diff --git a/ExFactor Ontology release notes.txt b/ExFactor Ontology release notes.txt index 5d526acd..6d846016 100644 --- a/ExFactor Ontology release notes.txt +++ b/ExFactor Ontology release notes.txt @@ -11,17 +11,17 @@ \/__/ \/__/ \/__/ EFO - Release Notes -Experimental Factor Ontology version 3.68.0 -Date Released: 15th July 2024 -Class Count: 55,318 +Experimental Factor Ontology version 3.69.0 +Date Released: 15th August 2024 +Class Count: 55,425 Summary: -EFO 3.68.0 includes further alignments between EFO and MONDO as well as terms required for Open Targets projects, HCA, Array Express/Expression Atlas and the GWAS Catalog. +EFO 3.69.0 includes further alignments between EFO and MONDO as well as terms required for Open Targets projects, HCA, Array Express/Expression Atlas and the GWAS Catalog. -Number of classes changed: 404 -Number of classes added: 3 -Number of classes deleted: 2 +Number of classes changed: 33 +Number of classes added: 106 +Number of classes deleted: 0 ---------------------------------- 1. Changes to URIs @@ -37,19 +37,450 @@ Number of classes deleted: 2 @Classes new to this version -Class: http://purl.obolibrary.org/obo/MONDO_1011828 -Label(s): cancer, non-human animal -+ 'cancer, non-human animal' SubClassOf 'neoplasm, non-human animal' +Class: http://purl.obolibrary.org/obo/MONDO_0007617 +Label(s): Coffin-Siris syndrome 1 ++ 'Coffin-Siris syndrome 1' SubClassOf 'autosomal dominant disease' ++ 'Coffin-Siris syndrome 1' SubClassOf 'Coffin-Siris syndrome' ++ 'Coffin-Siris syndrome 1' SubClassOf 'BAFopathy' -Class: http://purl.obolibrary.org/obo/MONDO_0018184 -Label(s): gastric linitis plastica -+ 'gastric linitis plastica' SubClassOf 'disease has location' some 'wall of stomach' -+ 'gastric linitis plastica' SubClassOf 'cancer-related condition' -+ 'gastric linitis plastica' SubClassOf 'diffuse gastric adenocarcinoma' +Class: http://purl.obolibrary.org/obo/MONDO_0859262 +Label(s): ACCES syndrome ++ 'ACCES syndrome' SubClassOf 'genetic disorder' -Class: http://purl.obolibrary.org/obo/MONDO_1030002 -Label(s): dysplasia of the proximal femoral epiphyses -+ 'dysplasia of the proximal femoral epiphyses' SubClassOf 'type 2 collagenopathy' +Class: http://purl.obolibrary.org/obo/MONDO_0859292 +Label(s): developmental delay, behavioral abnormalities, and neuropsychiatric disorders ++ 'developmental delay, behavioral abnormalities, and neuropsychiatric disorders' SubClassOf 'genetic disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0007335 +Label(s): orofacial cleft 1 ++ 'orofacial cleft 1' SubClassOf 'orofacial cleft' + +Class: http://purl.obolibrary.org/obo/MONDO_0958071 +Label(s): Hao-Fountain syndrome due to USP7 mutation ++ 'Hao-Fountain syndrome due to USP7 mutation' SubClassOf 'Mendelian neurodevelopmental disorder' ++ 'Hao-Fountain syndrome due to USP7 mutation' SubClassOf 'Hao-Fountain syndrome' + +Class: http://purl.obolibrary.org/obo/HP_0025569 +Label(s): Polypoidal choroidal vasculopathy ++ 'Polypoidal choroidal vasculopathy' SubClassOf 'Abnormal choroid morphology' + +Class: http://purl.obolibrary.org/obo/MONDO_0958204 +Label(s): intellectual developmental disorder, autosomal recessive 81 ++ 'intellectual developmental disorder, autosomal recessive 81' SubClassOf 'autosomal recessive non-syndromic intellectual disability' + +Class: http://purl.obolibrary.org/obo/MONDO_0957811 +Label(s): Alport syndrome 3b, autosomal recessive ++ 'Alport syndrome 3b, autosomal recessive' SubClassOf 'Alport syndrome' + +Class: http://purl.obolibrary.org/obo/MONDO_0968947 +Label(s): neurodevelopmental disorder plus optic atrophy ++ 'neurodevelopmental disorder plus optic atrophy' SubClassOf 'Mendelian neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0859230 +Label(s): Kury-Isidor syndrome ++ 'Kury-Isidor syndrome' SubClassOf 'genetic disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0859257 +Label(s): intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism ++ 'intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism' SubClassOf 'genetic disorder' + +Class: http://purl.obolibrary.org/obo/HP_0002197 +Label(s): Generalized-onset seizure ++ 'Generalized-onset seizure' SubClassOf 'Seizure' + +Class: http://purl.obolibrary.org/obo/HP_0002151 +Label(s): Increased circulating lactate concentration ++ 'Increased circulating lactate concentration' SubClassOf 'Acidosis' + +Class: http://purl.obolibrary.org/obo/MONDO_0859332 +Label(s): cortical dysplasia, complex, with other brain malformations 11 ++ 'cortical dysplasia, complex, with other brain malformations 11' SubClassOf 'complex cortical dysplasia with other brain malformations' + +Class: http://www.ebi.ac.uk/efo/EFO_0803692 +Label(s): anti-hepatitis B virus antibody measurement ++ 'anti-hepatitis B virus antibody measurement' SubClassOf 'antibody measurement' + +Class: http://www.ebi.ac.uk/efo/EFO_0803691 +Label(s): anti-TSST-1 antibody measurement ++ 'anti-TSST-1 antibody measurement' SubClassOf 'antibody measurement' + +Class: http://www.ebi.ac.uk/efo/EFO_0803690 +Label(s): anti-hepatitis E virus antibody measurement ++ 'anti-hepatitis E virus antibody measurement' SubClassOf 'antibody measurement' + +Class: http://purl.obolibrary.org/obo/MONDO_0957577 +Label(s): variegate porphyria, childhood-onset ++ 'variegate porphyria, childhood-onset' SubClassOf 'variegate porphyria' + +Class: http://purl.obolibrary.org/obo/HP_0002060 +Label(s): Abnormal cerebral morphology ++ 'Abnormal cerebral morphology' SubClassOf 'Abnormal brain morphology' + +Class: http://purl.obolibrary.org/obo/HP_0000105 +Label(s): Enlarged kidney ++ 'Enlarged kidney' SubClassOf 'Abnormal renal morphology' + +Class: http://purl.obolibrary.org/obo/MONDO_0957397 +Label(s): intellectual developmental disorder, autosomal dominant 72 ++ 'intellectual developmental disorder, autosomal dominant 72' SubClassOf 'intellectual disability, autosomal dominant' + +Class: http://purl.obolibrary.org/obo/MONDO_0957317 +Label(s): hematuria, benign familial ++ 'hematuria, benign familial' SubClassOf 'genetic disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0700271 +Label(s): CHEK2-related cancer predisposition ++ 'CHEK2-related cancer predisposition' SubClassOf 'hereditary neoplastic syndrome' + +Class: http://purl.obolibrary.org/obo/MONDO_0957284 +Label(s): nemaline myopathy 5C, autosomal dominant ++ 'nemaline myopathy 5C, autosomal dominant' SubClassOf 'nemaline myopathy' + +Class: http://purl.obolibrary.org/obo/MONDO_0957278 +Label(s): oocyte/zygote/embryo maturation arrest 20 ++ 'oocyte/zygote/embryo maturation arrest 20' SubClassOf 'inherited oocyte maturation defect' + +Class: http://purl.obolibrary.org/obo/MONDO_0957273 +Label(s): Charcot-Marie-Tooth disease, dominant intermediate A ++ 'Charcot-Marie-Tooth disease, dominant intermediate A' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' + +Class: http://purl.obolibrary.org/obo/MONDO_0957266 +Label(s): RECON progeroid syndrome ++ 'RECON progeroid syndrome' SubClassOf 'genetic disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0957215 +Label(s): congenital myopathy 20 ++ 'congenital myopathy 20' SubClassOf 'congenital myopathy' + +Class: http://purl.obolibrary.org/obo/MONDO_0957196 +Label(s): diffuse midline glioma, H3 K27M-mutant ++ 'diffuse midline glioma, H3 K27M-mutant' SubClassOf 'diffuse intrinsic pontine glioma' + +Class: http://purl.obolibrary.org/obo/MONDO_0009681 +Label(s): Ullrich congenital muscular dystrophy 1A ++ 'Ullrich congenital muscular dystrophy 1A' SubClassOf 'collagen 6-related myopathy' ++ 'Ullrich congenital muscular dystrophy 1A' SubClassOf 'Ullrich congenital muscular dystrophy' + +Class: http://purl.obolibrary.org/obo/MONDO_0030731 +Label(s): aortic aneurysm, familial thoracic 12 ++ 'aortic aneurysm, familial thoracic 12' SubClassOf 'familial thoracic aortic aneurysm and aortic dissection' + +Class: http://purl.obolibrary.org/obo/MONDO_0700248 +Label(s): epidermolytic hyperkeratosis 2A, autosomal dominant ++ 'epidermolytic hyperkeratosis 2A, autosomal dominant' SubClassOf 'autosomal dominant epidermolytic ichthyosis' ++ 'epidermolytic hyperkeratosis 2A, autosomal dominant' SubClassOf 'epidermolytic hyperkeratosis 2' + +Class: http://purl.obolibrary.org/obo/HP_0004935 +Label(s): Pulmonary artery atresia ++ 'Pulmonary artery atresia' SubClassOf 'Abnormal lung morphology' ++ 'Pulmonary artery atresia' SubClassOf 'Abnormal cardiovascular system morphology' ++ 'Pulmonary artery atresia' SubClassOf 'Abnormality of the vasculature' + +Class: http://purl.obolibrary.org/obo/MONDO_0009136 +Label(s): dyskeratosis congenita, autosomal recessive 1 ++ 'dyskeratosis congenita, autosomal recessive 1' SubClassOf 'dyskeratosis congenita' + +Class: http://purl.obolibrary.org/obo/MONDO_0007709 +Label(s): hematuria, benign familial, 1 ++ 'hematuria, benign familial, 1' SubClassOf 'hematuria, benign familial' + +Class: http://purl.obolibrary.org/obo/MONDO_0957252 +Label(s): ciliary dyskinesia, primary, 50 ++ 'ciliary dyskinesia, primary, 50' SubClassOf 'primary ciliary dyskinesia' + +Class: http://purl.obolibrary.org/obo/MONDO_0100465 +Label(s): complex neurodevelopmental disorder with or without congenital anomalies ++ 'complex neurodevelopmental disorder with or without congenital anomalies' SubClassOf 'complex neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0859168 +Label(s): myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy ++ 'myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy' SubClassOf 'myofibrillar myopathy' + +Class: http://purl.obolibrary.org/obo/HP_0032025 +Label(s): Reduced circulating alpha-1-antitrypsin concentration ++ 'Reduced circulating alpha-1-antitrypsin concentration' SubClassOf 'Abnormality of metabolism/homeostasis' + +Class: http://purl.obolibrary.org/obo/MONDO_0958323 +Label(s): neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities ++ 'neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0956989 +Label(s): CIC-rearranged sarcoma ++ 'CIC-rearranged sarcoma' SubClassOf 'EWSR1-negative small round cell tumor' + +Class: http://purl.obolibrary.org/obo/MONDO_0858921 +Label(s): EWSR1-negative small round cell tumor ++ 'EWSR1-negative small round cell tumor' SubClassOf 'small cell sarcoma' + +Class: http://purl.obolibrary.org/obo/MONDO_0859212 +Label(s): neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus ++ 'neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus' SubClassOf 'Neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0030674 +Label(s): Teebi hypertelorism syndrome 2 ++ 'Teebi hypertelorism syndrome 2' SubClassOf 'Teebi hypertelorism syndrome' + +Class: http://purl.obolibrary.org/obo/MONDO_0958332 +Label(s): neuromuscular disorder, congenital, with dysmorphic facies ++ 'neuromuscular disorder, congenital, with dysmorphic facies' SubClassOf 'hereditary neuromuscular disease' + +Class: http://purl.obolibrary.org/obo/MONDO_0013821 +Label(s): intellectual disability, autosomal dominant 16 ++ 'intellectual disability, autosomal dominant 16' SubClassOf 'autosomal dominant disease' ++ 'intellectual disability, autosomal dominant 16' SubClassOf 'Coffin-Siris syndrome' ++ 'intellectual disability, autosomal dominant 16' SubClassOf 'BAFopathy' + +Class: http://purl.obolibrary.org/obo/MONDO_0013819 +Label(s): intellectual disability, autosomal dominant 14 ++ 'intellectual disability, autosomal dominant 14' SubClassOf 'Coffin-Siris syndrome' ++ 'intellectual disability, autosomal dominant 14' SubClassOf 'BAFopathy' ++ 'intellectual disability, autosomal dominant 14' SubClassOf 'autosomal dominant disease' + +Class: http://www.ebi.ac.uk/efo/EFO_0022842 +Label(s): mosaic loss of chromosome X measurement ++ 'mosaic loss of chromosome X measurement' SubClassOf 'genomic measurement' + +Class: http://www.ebi.ac.uk/efo/EFO_0022841 +Label(s): Illumina NovaSeq X Plus ++ 'Illumina NovaSeq X Plus' SubClassOf 'high throughput sequencer' + +Class: http://www.ebi.ac.uk/efo/EFO_0022840 +Label(s): Illumina NovaSeq X ++ 'Illumina NovaSeq X' SubClassOf 'high throughput sequencer' + +Class: http://www.ebi.ac.uk/efo/EFO_0022837 +Label(s): congenital indifference to pain ++ 'congenital indifference to pain' SubClassOf 'congenital nervous system disorder' + +Class: http://purl.obolibrary.org/obo/HP_0003233 +Label(s): Decreased HDL cholesterol concentration ++ 'Decreased HDL cholesterol concentration' SubClassOf 'Abnormal circulating lipid concentration' + +Class: http://purl.obolibrary.org/obo/MONDO_0008233 +Label(s): pheochromocytoma ++ 'pheochromocytoma' SubClassOf 'benign neoplasm of adrenal gland' ++ 'pheochromocytoma' SubClassOf 'hereditary pheochromocytoma-paraganglioma' + +Class: http://purl.obolibrary.org/obo/HP_0009589 +Label(s): Bilateral vestibular schwannoma ++ 'Bilateral vestibular schwannoma' SubClassOf 'Vestibular schwannoma' + +Class: http://purl.obolibrary.org/obo/MONDO_0013266 +Label(s): intellectual disability, autosomal dominant 20 ++ 'intellectual disability, autosomal dominant 20' SubClassOf 'autosomal dominant non-syndromic intellectual disability' + +Class: http://purl.obolibrary.org/obo/MONDO_0013224 +Label(s): rhabdoid tumor predisposition syndrome 2 ++ 'rhabdoid tumor predisposition syndrome 2' SubClassOf 'familial rhabdoid tumor' ++ 'rhabdoid tumor predisposition syndrome 2' SubClassOf 'hereditary neurological disease' ++ 'rhabdoid tumor predisposition syndrome 2' SubClassOf 'atypical teratoid rhabdoid tumor' + +Class: http://purl.obolibrary.org/obo/MONDO_0859260 +Label(s): Dworschak-Punetha neurodevelopmental syndrome ++ 'Dworschak-Punetha neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0023664 +Label(s): spermatogenic failure 54 ++ 'spermatogenic failure 54' SubClassOf 'azoospermia' + +Class: http://purl.obolibrary.org/obo/MONDO_0859531 +Label(s): neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures ++ 'neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures' SubClassOf 'Neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0859523 +Label(s): congenital myopathy 2c, severe infantile, autosomal dominant ++ 'congenital myopathy 2c, severe infantile, autosomal dominant' SubClassOf 'congenital myopathy' + +Class: http://purl.obolibrary.org/obo/MONDO_0859521 +Label(s): oocyte maturation defect 14 ++ 'oocyte maturation defect 14' SubClassOf 'inherited oocyte maturation defect' + +Class: http://purl.obolibrary.org/obo/MONDO_0859516 +Label(s): neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum ++ 'neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum' SubClassOf 'Neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0021016 +Label(s): obsolete channelopathy ++ 'obsolete channelopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing + +Class: http://purl.obolibrary.org/obo/MONDO_0859339 +Label(s): tooth agenesis, selective, 10 ++ 'tooth agenesis, selective, 10' SubClassOf 'tooth agenesis' + +Class: http://purl.obolibrary.org/obo/MONDO_0859333 +Label(s): intellectual developmental disorder, autosomal dominant 70 ++ 'intellectual developmental disorder, autosomal dominant 70' SubClassOf 'SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth' ++ 'intellectual developmental disorder, autosomal dominant 70' SubClassOf 'intellectual disability, autosomal dominant' + +Class: http://purl.obolibrary.org/obo/MONDO_0859286 +Label(s): neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures ++ 'neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures' SubClassOf 'Neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0024530 +Label(s): Bethlem myopathy 1A ++ 'Bethlem myopathy 1A' SubClassOf 'collagen 6-related myopathy' ++ 'Bethlem myopathy 1A' SubClassOf 'Bethlem myopathy' + +Class: http://purl.obolibrary.org/obo/MONDO_0859243 +Label(s): neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities ++ 'neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities' SubClassOf 'Neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0859235 +Label(s): auditory neuropathy, autosomal dominant 3 ++ 'auditory neuropathy, autosomal dominant 3' SubClassOf 'auditory neuropathy' + +Class: http://purl.obolibrary.org/obo/MONDO_0859225 +Label(s): neurodevelopmental disorder with or without variable movement or behavioral abnormalities ++ 'neurodevelopmental disorder with or without variable movement or behavioral abnormalities' SubClassOf 'Neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0859224 +Label(s): intellectual disability and myopathy syndrome ++ 'intellectual disability and myopathy syndrome' SubClassOf 'genetic disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0859206 +Label(s): neurodevelopmental disorder with hearing loss and spasticity ++ 'neurodevelopmental disorder with hearing loss and spasticity' SubClassOf 'Neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0859201 +Label(s): neurodevelopmental disorder with impaired language and ataxia and with or without seizures ++ 'neurodevelopmental disorder with impaired language and ataxia and with or without seizures' SubClassOf 'Neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0958329 +Label(s): Jeffries-Lakhani neurodevelopmental syndrome ++ 'Jeffries-Lakhani neurodevelopmental syndrome' SubClassOf 'Mendelian neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0958326 +Label(s): macular dystrophy with or without cone dysfunction ++ 'macular dystrophy with or without cone dysfunction' SubClassOf 'hereditary macular dystrophy' + +Class: http://purl.obolibrary.org/obo/MONDO_0800447 +Label(s): bleeding disorder, platelet-type, 13, susceptibility to ++ 'bleeding disorder, platelet-type, 13, susceptibility to' SubClassOf 'inherited disease susceptibility' ++ 'bleeding disorder, platelet-type, 13, susceptibility to' SubClassOf 'predisposes towards' some 'bleeding diathesis due to thromboxane synthesis deficiency' + +Class: http://purl.obolibrary.org/obo/MONDO_0859193 +Label(s): neuroocular syndrome ++ 'neuroocular syndrome' SubClassOf 'hereditary neurological disease' ++ 'neuroocular syndrome' SubClassOf 'eye disease' + +Class: http://purl.obolibrary.org/obo/MONDO_0859186 +Label(s): Chopra-Amiel-Gordon syndrome ++ 'Chopra-Amiel-Gordon syndrome' SubClassOf 'genetic disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0859179 +Label(s): neurodevelopmental disorder with dysmorphic facies and thin corpus callosum ++ 'neurodevelopmental disorder with dysmorphic facies and thin corpus callosum' SubClassOf 'Neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0859178 +Label(s): developmental delay, impaired speech, and behavioral abnormalities ++ 'developmental delay, impaired speech, and behavioral abnormalities' SubClassOf 'genetic disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0859165 +Label(s): neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities ++ 'neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities' SubClassOf 'Neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0958185 +Label(s): mitochondrial trifunctional protein deficiency 2 ++ 'mitochondrial trifunctional protein deficiency 2' SubClassOf 'mitochondrial trifunctional protein deficiency' + +Class: http://purl.obolibrary.org/obo/MONDO_0859148 +Label(s): neurodevelopmental disorder with seizures and gingival overgrowth ++ 'neurodevelopmental disorder with seizures and gingival overgrowth' SubClassOf 'Neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0968945 +Label(s): neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder ++ 'neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder' SubClassOf 'Mendelian neurodevelopmental disorder' + +Class: http://www.ebi.ac.uk/efo/EFO_0022836 +Label(s): osteogenesis imperfecta, recessive ++ 'osteogenesis imperfecta, recessive' SubClassOf 'osteogenesis imperfecta' + +Class: http://www.ebi.ac.uk/efo/EFO_0022838 +Label(s): HUDEP-2 ++ 'HUDEP-2' SubClassOf 'iPSC derived cell line' + +Class: http://www.ebi.ac.uk/efo/EFO_0022839 +Label(s): STORM-seq ++ 'STORM-seq' SubClassOf 'RNA assay' ++ 'STORM-seq' SubClassOf 'Smart-like' + +Class: http://purl.obolibrary.org/obo/MONDO_0958009 +Label(s): spastic ataxia 10, autosomal recessive ++ 'spastic ataxia 10, autosomal recessive' SubClassOf 'spastic ataxia' + +Class: http://purl.obolibrary.org/obo/HP_0040298 +Label(s): Hyperplasia of the endometrium ++ 'Hyperplasia of the endometrium' SubClassOf 'Abnormality of the uterus' + +Class: http://purl.obolibrary.org/obo/HP_0011163 +Label(s): Focal sensory seizure with somatosensory features ++ 'Focal sensory seizure with somatosensory features' SubClassOf 'Focal-onset seizure' + +Class: http://purl.obolibrary.org/obo/MONDO_0859232 +Label(s): neurodevelopmental disorder with central hypotonia and dysmorphic facies ++ 'neurodevelopmental disorder with central hypotonia and dysmorphic facies' SubClassOf 'Neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0030891 +Label(s): intellectual developmental disorder, autosomal dominant 66 ++ 'intellectual developmental disorder, autosomal dominant 66' SubClassOf 'intellectual disability, autosomal dominant' + +Class: http://purl.obolibrary.org/obo/MONDO_0859082 +Label(s): thrombophilia, X-linked, due to factor 8 defect ++ 'thrombophilia, X-linked, due to factor 8 defect' SubClassOf 'inherited thrombophilia' + +Class: http://purl.obolibrary.org/obo/MONDO_0030770 +Label(s): congenital disorder of deglycosylation 2 ++ 'congenital disorder of deglycosylation 2' SubClassOf 'congenital disorder of deglycosylation' + +Class: http://purl.obolibrary.org/obo/MONDO_0859152 +Label(s): neurodevelopmental disorder with cerebellar atrophy and motor dysfunction ++ 'neurodevelopmental disorder with cerebellar atrophy and motor dysfunction' SubClassOf 'Neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0030463 +Label(s): spermatogenic failure 58 ++ 'spermatogenic failure 58' SubClassOf 'azoospermia' + +Class: http://purl.obolibrary.org/obo/MONDO_0030455 +Label(s): dystonia 31 ++ 'dystonia 31' SubClassOf 'inherited dystonia' + +Class: http://purl.obolibrary.org/obo/MONDO_0030453 +Label(s): developmental and epileptic encephalopathy 97 ++ 'developmental and epileptic encephalopathy 97' SubClassOf 'developmental and epileptic encephalopathy' + +Class: http://purl.obolibrary.org/obo/MONDO_0030438 +Label(s): pontocerebellar hypoplasia, type 16 ++ 'pontocerebellar hypoplasia, type 16' SubClassOf 'pontocerebellar hypoplasia' + +Class: http://purl.obolibrary.org/obo/MONDO_0800477 +Label(s): SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth ++ 'SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth' SubClassOf 'hereditary neurological disease' ++ 'SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth' SubClassOf 'developmental disorder of mental health' + +Class: http://purl.obolibrary.org/obo/MONDO_0100519 +Label(s): epilepsy, idiopathic generalized, susceptibility to, 17 ++ 'epilepsy, idiopathic generalized, susceptibility to, 17' SubClassOf 'inherited disease susceptibility' ++ 'epilepsy, idiopathic generalized, susceptibility to, 17' SubClassOf 'predisposes towards' some 'generalised epilepsy' + +Class: http://purl.obolibrary.org/obo/MONDO_0958237 +Label(s): isolated hyperferritinemia ++ 'isolated hyperferritinemia' SubClassOf 'genetic disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0030323 +Label(s): spinocerebellar ataxia, autosomal recessive 31 ++ 'spinocerebellar ataxia, autosomal recessive 31' SubClassOf 'autosomal recessive cerebellar ataxia' + +Class: http://purl.obolibrary.org/obo/MONDO_0030317 +Label(s): cardiomyopathy, familial hypertrophic, 28 ++ 'cardiomyopathy, familial hypertrophic, 28' SubClassOf 'familial hypertrophic cardiomyopathy' + +Class: http://purl.obolibrary.org/obo/MONDO_0030314 +Label(s): inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive ++ 'inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive' SubClassOf 'inflammatory bowel disease' + +Class: http://purl.obolibrary.org/obo/MONDO_0958240 +Label(s): neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities ++ 'neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities' SubClassOf 'Neurodevelopmental disorder' ---------------------------------- @@ -57,2198 +488,158 @@ Label(s): dysplasia of the proximal femoral epiphyses @Classes modified from previous -Class: http://purl.obolibrary.org/obo/MONDO_0012756 -Label(s): proximal 16p11.2 microdeletion syndrome -- 'proximal 16p11.2 microdeletion syndrome' SubClassOf 'predisposes towards' some 'autism' -+ 'proximal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism' - -Class: http://purl.obolibrary.org/obo/MONDO_0012720 -Label(s): Krabbe disease due to saposin A deficiency -- 'Krabbe disease due to saposin A deficiency' SubClassOf 'disease shares features of' some 'Krabbe disease' -+ 'Krabbe disease due to saposin A deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Krabbe disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0002017 -Label(s): olivopontocerebellar atrophy -- 'olivopontocerebellar atrophy' SubClassOf 'disease shares features of' some 'cerebellar ataxia' -+ 'olivopontocerebellar atrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012648 -Label(s): isobutyryl-CoA dehydrogenase deficiency -- 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' -+ 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0019852 -Label(s): inherited primary ovarian failure -+ 'inherited primary ovarian failure' SubClassOf 'female infertility' - -Class: http://purl.obolibrary.org/obo/MONDO_0007573 -Label(s): erythroleukemia, familial, susceptibility to -- 'erythroleukemia, familial, susceptibility to' SubClassOf 'predisposes towards' some 'acute erythroleukemia' -+ 'erythroleukemia, familial, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'acute erythroleukemia' - -Class: http://www.ebi.ac.uk/efo/EFO_0006751 -Label(s): SIG-M5 -- 'SIG-M5' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0012585 -Label(s): coronary heart disease, susceptibility to, 7 -- 'coronary heart disease, susceptibility to, 7' SubClassOf 'predisposes towards' some 'coronary artery disease' -+ 'coronary heart disease, susceptibility to, 7' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012584 -Label(s): systemic lupus erythematosus, susceptibility to, 9 -- 'systemic lupus erythematosus, susceptibility to, 9' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus' -+ 'systemic lupus erythematosus, susceptibility to, 9' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'systemic lupus erythematosus' - -Class: http://purl.obolibrary.org/obo/MONDO_0012570 -Label(s): body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency -- 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'disease shares features of' some 'pseudoxanthoma elasticum (inherited or acquired)' -+ 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'pseudoxanthoma elasticum (inherited or acquired)' - -Class: http://purl.obolibrary.org/obo/MONDO_0007495 -Label(s): dystonia 5 -- 'dystonia 5' SubClassOf 'disease responds to' some 'L-dopa' -+ 'dystonia 5' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'L-dopa' - -Class: http://purl.obolibrary.org/obo/MONDO_0007462 -Label(s): multiple sclerosis, susceptibility to -- 'multiple sclerosis, susceptibility to' SubClassOf 'predisposes towards' some 'multiple sclerosis' -- 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'multiple sclerosis') -+ 'multiple sclerosis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'multiple sclerosis' -+ 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'multiple sclerosis') - -Class: http://purl.obolibrary.org/obo/MONDO_0007401 -Label(s): craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome -- 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0012488 -Label(s): hepatitis B virus, susceptibility to -- 'hepatitis B virus, susceptibility to' SubClassOf 'predisposes towards' some 'genetic disorder' -+ 'hepatitis B virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'genetic disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0012482 -Label(s): West Nile virus, susceptibility to -- 'West Nile virus, susceptibility to' SubClassOf 'predisposes towards' some 'West Nile encephalitis' -+ 'West Nile virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'West Nile encephalitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0012466 -Label(s): Parkinson disease 13, autosomal dominant, susceptibility to -- 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'Parkinson disease' -+ 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Parkinson disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012456 -Label(s): congenital primary aphakia -- 'congenital primary aphakia' SubClassOf 'disease has major feature' some 'Congenital aphakia' -+ 'congenital primary aphakia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Congenital aphakia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009335 -Label(s): hemolytic uremic syndrome, atypical, susceptibility to, 1 -- 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf 'predisposes towards' some 'atypical hemolytic-uremic syndrome' -+ 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'atypical hemolytic-uremic syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0012435 -Label(s): 3-methylglutaconic aciduria type 5 -- '3-methylglutaconic aciduria type 5' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' -+ '3-methylglutaconic aciduria type 5' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0012407 -Label(s): pyridoxal phosphate-responsive seizures -- 'pyridoxal phosphate-responsive seizures' SubClassOf 'disease responds to' some 'pyridoxal 5'-phosphate' -- 'pyridoxal phosphate-responsive seizures' EquivalentTo 'metabolic epilepsy' and ('disease responds to' some 'pyridoxal 5'-phosphate') -+ 'pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'pyridoxal 5'-phosphate' -+ 'pyridoxal phosphate-responsive seizures' EquivalentTo 'metabolic epilepsy' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'pyridoxal 5'-phosphate') - -Class: http://purl.obolibrary.org/obo/MONDO_0012402 -Label(s): opioid dependence, susceptibility to, 1 -- 'opioid dependence, susceptibility to, 1' SubClassOf 'predisposes towards' some 'opioid dependence' -+ 'opioid dependence, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'opioid dependence' - -Class: http://www.ebi.ac.uk/efo/EFO_0005722 -Label(s): SJCRH30 -+ 'SJCRH30' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('musculature' and ('part_of' some 'Homo sapiens')))) - -Class: http://www.ebi.ac.uk/efo/EFO_0005772 -Label(s): neurodegenerative disease -- 'neurodegenerative disease' SubClassOf 'disease has major feature' some 'Cerebral degeneration' -+ 'neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cerebral degeneration' - -Class: http://purl.obolibrary.org/obo/MONDO_0017902 -Label(s): autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency -- 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'predisposes towards' some 'mycobacterial infectious disease' -+ 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'mycobacterial infectious disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0003778 -Label(s): psoriatic arthritis -- 'psoriatic arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some 'Autoimmunity') and ('disease has major feature' some 'psoriasis') -- 'psoriatic arthritis' SubClassOf 'disease has major feature' some 'psoriasis' -+ 'psoriatic arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some 'Autoimmunity') and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'psoriasis') -+ 'psoriatic arthritis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'psoriasis' - -Class: http://purl.obolibrary.org/obo/MONDO_0012192 -Label(s): permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome -- 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0012161 -Label(s): susceptibility to respiratory infections associated with CD8alpha chain mutation -- 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'predisposes towards' some 'respiratory tract infectious disorder' -+ 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'respiratory tract infectious disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0012141 -Label(s): orofacial cleft 6, susceptibility to -- 'orofacial cleft 6, susceptibility to' SubClassOf 'predisposes towards' some 'orofacial cleft' -+ 'orofacial cleft 6, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'orofacial cleft' - -Class: http://purl.obolibrary.org/obo/MONDO_0017746 -Label(s): atypical Rett syndrome -- 'atypical Rett syndrome' SubClassOf 'disease shares features of' some 'Rett syndrome' -+ 'atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Rett syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0012057 -Label(s): legionnaire disease, susceptibility to -- 'legionnaire disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Legionnaires' disease') -- 'legionnaire disease, susceptibility to' SubClassOf 'predisposes towards' some 'Legionnaires' disease' -+ 'legionnaire disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Legionnaires' disease') -+ 'legionnaire disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Legionnaires' disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012009 -Label(s): coronary heart disease, susceptibility to, 2 -- 'coronary heart disease, susceptibility to, 2' SubClassOf 'predisposes towards' some 'coronary artery disease' -+ 'coronary heart disease, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0017454 -Label(s): triphalangeal thumb-polysyndactyly syndrome -- 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf 'disease has major feature' some 'polydactyly of a triphalangeal thumb' -+ 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'polydactyly of a triphalangeal thumb' - -Class: http://www.ebi.ac.uk/efo/EFO_0002238 -Label(s): ML2 -- 'ML2' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0017389 -Label(s): tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria -- 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'disease responds to' some 'sapropterin' -+ 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'sapropterin' - -Class: http://purl.obolibrary.org/obo/BTO_0003264 -Label(s): HL-1 cell -- 'HL-1 cell' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -(('developmental stage' or 'organism part') and ('part_of' some 'Mus')))) -- 'HL-1 cell' SubClassOf 'mouse cell line' -+ 'HL-1 cell' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/MONDO_0027766 -Label(s): generalized lipodystrophy -- 'generalized lipodystrophy' EquivalentTo 'lipodystrophy' and ('disease has major feature' some 'Generalized lipodystrophy') -- 'generalized lipodystrophy' SubClassOf 'disease has major feature' some 'Generalized lipodystrophy' -+ 'generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Generalized lipodystrophy' -+ 'generalized lipodystrophy' EquivalentTo 'lipodystrophy' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Generalized lipodystrophy') - -Class: http://purl.obolibrary.org/obo/MONDO_0017054 -Label(s): thiamine-responsive maple syrup urine disease -- 'thiamine-responsive maple syrup urine disease' EquivalentTo 'maple syrup urine disease' and ('disease responds to' some 'vitamin B1') -- 'thiamine-responsive maple syrup urine disease' SubClassOf 'disease responds to' some 'vitamin B1' -+ 'thiamine-responsive maple syrup urine disease' EquivalentTo 'maple syrup urine disease' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'vitamin B1') -+ 'thiamine-responsive maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'vitamin B1' - -Class: http://www.ebi.ac.uk/efo/EFO_0008506 -Label(s): hyperparathyroidism -- 'hyperparathyroidism' SubClassOf 'disease has major feature' some 'Hyperparathyroidism' -+ 'hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperparathyroidism' - -Class: http://www.ebi.ac.uk/efo/EFO_0000699 -Label(s): Sjogren syndrome -- 'Sjogren syndrome' SubClassOf 'disease shares features of' some 'IgG4-related dacryoadenitis and sialadenitis' -+ 'Sjogren syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'IgG4-related dacryoadenitis and sialadenitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0017214 -Label(s): vitamin B12-responsive methylmalonic acidemia -- 'vitamin B12-responsive methylmalonic acidemia' EquivalentTo 'methylmalonic acidemia' and ('disease responds to' some 'cobalamin') -- 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'disease responds to' some 'cobalamin' -+ 'vitamin B12-responsive methylmalonic acidemia' EquivalentTo 'methylmalonic acidemia' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'cobalamin') -+ 'vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'cobalamin' - -Class: http://purl.obolibrary.org/obo/MONDO_0009966 -Label(s): NPHP3-related Meckel-like syndrome -- 'NPHP3-related Meckel-like syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'NPHP3-related Meckel-like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0009958 -Label(s): adult Refsum disease -- 'adult Refsum disease' SubClassOf 'disease has major feature' some 'Leukoencephalopathy' -+ 'adult Refsum disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Leukoencephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0011685 -Label(s): polysubstance abuse, susceptibility to -- 'polysubstance abuse, susceptibility to' SubClassOf 'predisposes towards' some 'drug dependence' -+ 'polysubstance abuse, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'drug dependence' - -Class: http://purl.obolibrary.org/obo/MONDO_0007839 -Label(s): Aase-Smith syndrome -- 'Aase-Smith syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0022394 -Label(s): cervical intraepithelial neoplasia -- 'cervical intraepithelial neoplasia' SubClassOf 'disease has major feature' some 'Cervical polyp' -+ 'cervical intraepithelial neoplasia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cervical polyp' - -Class: http://purl.obolibrary.org/obo/MONDO_0060627 -Label(s): glycosylphosphatidylinositol biosynthesis defect 15 -- 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_1030001 -Label(s): epilepsy, juvenile absence, susceptibility to -- 'epilepsy, juvenile absence, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'juvenile absence epilepsy') -- 'epilepsy, juvenile absence, susceptibility to' SubClassOf 'predisposes towards' some 'juvenile absence epilepsy' -+ 'epilepsy, juvenile absence, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'juvenile absence epilepsy' -+ 'epilepsy, juvenile absence, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'juvenile absence epilepsy') - -Class: http://purl.obolibrary.org/obo/MONDO_0700057 -Label(s): neurological pain disorder -- 'neurological pain disorder' EquivalentTo 'nervous system disease' and ('disease has major feature' some 'Pain') -- 'neurological pain disorder' SubClassOf 'disease has major feature' some 'Pain' -+ 'neurological pain disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Pain' -+ 'neurological pain disorder' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Pain') - -Class: http://purl.obolibrary.org/obo/MONDO_0700041 -Label(s): neuroblastoma, susceptibility to, 2 -- 'neuroblastoma, susceptibility to, 2' SubClassOf 'predisposes towards' some 'neuroblastoma' -+ 'neuroblastoma, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neuroblastoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0027353 -Label(s): autosomal recessive dyskeratosis congenita 4 -- 'autosomal recessive dyskeratosis congenita 4' SubClassOf 'disease shares features of' some 'dyskeratosis congenita, autosomal dominant 2' -+ 'autosomal recessive dyskeratosis congenita 4' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'dyskeratosis congenita, autosomal dominant 2' - -Class: http://purl.obolibrary.org/obo/MONDO_0009830 -Label(s): parkinsonian-pyramidal syndrome -- 'parkinsonian-pyramidal syndrome' SubClassOf 'predisposes towards' some 'young-onset Parkinson disease' -+ 'parkinsonian-pyramidal syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'young-onset Parkinson disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0000773 -Label(s): temporal lobe epilepsy -+ 'temporal lobe epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0000712 -Label(s): stroke -- 'stroke' SubClassOf 'disease has major feature' some 'Stroke' -+ 'stroke' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Stroke' - -Class: http://purl.obolibrary.org/obo/MONDO_0014809 -Label(s): DDX41-related hematologic malignancy predisposition syndrome -- 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf 'predisposes towards' some 'Myelodysplastic/Myeloproliferative Neoplasm' -+ 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Myelodysplastic/Myeloproliferative Neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0009741 -Label(s): neuroblastoma, susceptibility to, 1 -- 'neuroblastoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'neuroblastoma' -+ 'neuroblastoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neuroblastoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0000650 -Label(s): whooping cough -- 'whooping cough' SubClassOf 'disease has major feature' some 'Whooping cough' -+ 'whooping cough' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Whooping cough' - -Class: http://purl.obolibrary.org/obo/MONDO_0014795 -Label(s): exercise intolerance, riboflavin-responsive -- 'exercise intolerance, riboflavin-responsive' SubClassOf 'disease responds to' some 'riboflavin' -+ 'exercise intolerance, riboflavin-responsive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'riboflavin' - -Class: http://purl.obolibrary.org/obo/MONDO_0014787 -Label(s): severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome -- 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0014746 -Label(s): SLC39A8-CDG -- 'SLC39A8-CDG' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0037858 -Label(s): inherited fatty acid metabolism disorder -- 'inherited fatty acid metabolism disorder' SubClassOf 'inborn organic aciduria' - -Class: http://purl.obolibrary.org/obo/MONDO_0009618 -Label(s): microcephaly-cardiomyopathy syndrome -- 'microcephaly-cardiomyopathy syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' -+ 'microcephaly-cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0014601 -Label(s): autosomal recessive spinocerebellar ataxia 20 -- 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'autosomal recessive spinocerebellar ataxia 20' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0037748 -Label(s): hyperlipoproteinemia -- 'hyperlipoproteinemia' SubClassOf 'disease has major feature' some 'Hyperlipoproteinemia' -- 'hyperlipoproteinemia' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Hyperlipoproteinemia') -+ 'hyperlipoproteinemia' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipoproteinemia') -+ 'hyperlipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipoproteinemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009500 -Label(s): kuru, susceptibility to -- 'kuru, susceptibility to' SubClassOf 'predisposes towards' some 'kuru' -+ 'kuru, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'kuru' - -Class: http://purl.obolibrary.org/obo/MONDO_0014552 -Label(s): lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome -- 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0017901 -Label(s): autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency -- 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'predisposes towards' some 'mycobacterial infectious disease' -+ 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'mycobacterial infectious disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009499 -Label(s): Krabbe disease -- 'Krabbe disease' SubClassOf 'disease has basis in accumulation of' some 'psychosine' -+ 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_accumulation_of some 'psychosine' - -Class: http://purl.obolibrary.org/obo/MONDO_0009480 -Label(s): Joubert syndrome with oculorenal defect -- 'Joubert syndrome with oculorenal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0012308 -Label(s): Joubert syndrome with renal defect -- 'Joubert syndrome with renal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0012341 -Label(s): celiac disease, susceptibility to, 3 -- 'celiac disease, susceptibility to, 3' SubClassOf 'predisposes towards' some 'celiac disease' -+ 'celiac disease, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'celiac disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009405 -Label(s): cervical hypertrichosis-peripheral neuropathy syndrome -- 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0017571 -Label(s): Proteus-like syndrome -- 'Proteus-like syndrome' SubClassOf 'disease shares features of' some 'Proteus syndrome' -+ 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Proteus syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0000373 -Label(s): congestive heart failure -- 'congestive heart failure' SubClassOf 'disease has major feature' some 'Congestive heart failure' -+ 'congestive heart failure' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Congestive heart failure' - -Class: http://purl.obolibrary.org/obo/MONDO_0014419 -Label(s): ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome -- 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0001941 -Label(s): blindness (disorder) -- 'blindness (disorder)' SubClassOf 'disease has major feature' some 'Blindness' -- 'blindness (disorder)' EquivalentTo 'vision disorder' and ('disease has major feature' some 'Blindness') -+ 'blindness (disorder)' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Blindness' -+ 'blindness (disorder)' EquivalentTo 'vision disorder' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Blindness') - -Class: http://www.ebi.ac.uk/efo/EFO_0000206 -Label(s): stage II endometrioid carcinoma -- 'stage II endometrioid carcinoma' SubClassOf 'part of progression of disease' some 'endometrial carcinoma' -+ 'stage II endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease some 'endometrial carcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0000205 -Label(s): stage I endometrioid carcinoma -- 'stage I endometrioid carcinoma' SubClassOf 'part of progression of disease' some 'endometrial carcinoma' -+ 'stage I endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease some 'endometrial carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0014241 -Label(s): leukemia, acute lymphoblastic, susceptibility to, 3 -- 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf 'predisposes towards' some 'acute lymphoblastic leukemia' -+ 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'acute lymphoblastic leukemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0014232 -Label(s): craniosynostosis 5, susceptibility to -- 'craniosynostosis 5, susceptibility to' SubClassOf 'predisposes towards' some 'craniosynostosis' -+ 'craniosynostosis 5, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'craniosynostosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0004951 -Label(s): susceptibility to HIV infection -- 'susceptibility to HIV infection' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'HIV infection') -- 'susceptibility to HIV infection' SubClassOf 'predisposes towards' some 'HIV infection' -+ 'susceptibility to HIV infection' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'HIV infection') -+ 'susceptibility to HIV infection' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'HIV infection' - -Class: http://www.ebi.ac.uk/efo/EFO_0005730 -Label(s): endothelial cell derived cell line -- 'endothelial cell derived cell line' SubClassOf 'epithelial cell derived cell line' -+ 'endothelial cell derived cell line' SubClassOf 'cultured cell' - -Class: http://www.ebi.ac.uk/efo/EFO_0005724 -Label(s): MM.1S -- 'MM.1S' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0012081 -Label(s): 15q11q13 microduplication syndrome -- '15q11q13 microduplication syndrome' SubClassOf 'predisposes towards' some 'autism' -+ '15q11q13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism' - -Class: http://purl.obolibrary.org/obo/MONDO_0014189 -Label(s): age related macular degeneration 13 -- 'age related macular degeneration 13' SubClassOf 'predisposes towards' some 'age-related macular degeneration' -+ 'age related macular degeneration 13' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'age-related macular degeneration' - -Class: http://www.ebi.ac.uk/efo/EFO_0005694 -Label(s): KMS-11 -- 'KMS-11' SubClassOf 'cultured cell' -+ 'KMS-11' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0700101 -Label(s): carcinoma, non-human animal -- 'carcinoma, non-human animal' SubClassOf 'neoplasm, non-human animal' -+ 'carcinoma, non-human animal' SubClassOf http://purl.obolibrary.org/obo/MONDO_1011828 - -Class: http://purl.obolibrary.org/obo/MONDO_0009084 -Label(s): conductive deafness-ptosis-skeletal anomalies syndrome -- 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf 'disease has major feature' some 'Conductive hearing impairment' -+ 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Conductive hearing impairment' - -Class: http://purl.obolibrary.org/obo/MONDO_0009080 -Label(s): split hand-foot malformation 1 with sensorineural hearing loss -- 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'disease has major feature' some 'Ectrodactyly' -+ 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Ectrodactyly' - -Class: http://purl.obolibrary.org/obo/MONDO_0009075 -Label(s): Dandy-Walker malformation-postaxial polydactyly syndrome -- 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0009074 -Label(s): facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome -- 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0014038 -Label(s): colorectal cancer, susceptibility to, 12 -- 'colorectal cancer, susceptibility to, 12' SubClassOf 'predisposes towards' some 'colorectal cancer' -+ 'colorectal cancer, susceptibility to, 12' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'colorectal cancer' - -Class: http://purl.obolibrary.org/obo/BTO_0001205 -Label(s): RT4-D6P2T cell -- 'RT4-D6P2T cell' SubClassOf 'rat cell line' -- 'RT4-D6P2T cell' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -(('developmental stage' or 'organism part') and ('part_of' some 'Rattus')))) -+ 'RT4-D6P2T cell' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://www.ebi.ac.uk/efo/EFO_0005458 -Label(s): SK-MM-2 -- 'SK-MM-2' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0957560 -Label(s): hearing loss, noise-induced, susceptibility to -- 'hearing loss, noise-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'noise-induced hearing loss') -- 'hearing loss, noise-induced, susceptibility to' SubClassOf 'predisposes towards' some 'noise-induced hearing loss' -+ 'hearing loss, noise-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'noise-induced hearing loss') -+ 'hearing loss, noise-induced, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'noise-induced hearing loss' - -Class: http://purl.obolibrary.org/obo/BTO_0000007 -Label(s): HEK-293 cell -- 'HEK-293 cell' SubClassOf 'kidney derived cell line' -- 'HEK-293 cell' SubClassOf 'Homo sapiens cell line' -- 'HEK-293 cell' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('kidney' and ('part_of' some 'organism')))) -- 'HEK-293 cell' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -(('developmental stage' or 'organism part') and ('part_of' some 'Homo sapiens')))) -+ 'HEK-293 cell' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://www.ebi.ac.uk/efo/EFO_0003037 -Label(s): CMK -- 'CMK' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0024512 -Label(s): spondyloarthropathy, susceptibility to -- 'spondyloarthropathy, susceptibility to' SubClassOf 'predisposes towards' some 'spondyloarthropathy' -- 'spondyloarthropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'spondyloarthropathy') -+ 'spondyloarthropathy, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'spondyloarthropathy' -+ 'spondyloarthropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'spondyloarthropathy') - -Class: http://www.ebi.ac.uk/efo/EFO_0005395 -Label(s): MUTZ-3 -- 'MUTZ-3' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0005374 -Label(s): HCC227 -- 'HCC227' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('organism part' and ('part_of' some 'Homo sapiens')))) -- 'HCC227' SubClassOf 'Homo sapiens cell line' -- 'HCC227' SubClassOf 'bearer_of' some 'carcinoma' -- 'HCC227' SubClassOf 'has quality' some 'female' -- 'HCC227' SubClassOf 'cancer cell line' -+ 'HCC227' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/MONDO_0012292 -Label(s): hepatitis C virus, susceptibility to -- 'hepatitis C virus, susceptibility to' SubClassOf 'predisposes towards' some 'hepatitis C virus infection' -+ 'hepatitis C virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hepatitis C virus infection' - -Class: http://purl.obolibrary.org/obo/MONDO_0100488 -Label(s): CDH1-related diffuse gastric and lobular breast cancer syndrome -- 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf 'predisposes towards' some 'hereditary gastric cancer' -- 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf 'predisposes towards' some 'lobular breast carcinoma' -+ 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'lobular breast carcinoma' -+ 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hereditary gastric cancer' - -Class: http://www.ebi.ac.uk/efo/EFO_0005294 -Label(s): chronic myelogenous leukemia cell line -- 'chronic myelogenous leukemia cell line' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0100308 -Label(s): atactic disorder -- 'atactic disorder' SubClassOf 'disease has major feature' some 'Ataxia' -- 'atactic disorder' EquivalentTo 'nervous system disease' and ('disease has major feature' some 'Ataxia') -+ 'atactic disorder' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Ataxia') -+ 'atactic disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0019290 -Label(s): hypopigmentation of the skin -- 'hypopigmentation of the skin' EquivalentTo 'disease' and ('disease has major feature' some 'Hypopigmentation of the skin') -- 'hypopigmentation of the skin' SubClassOf 'disease has major feature' some 'Hypopigmentation of the skin' -+ 'hypopigmentation of the skin' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypopigmentation of the skin') -+ 'hypopigmentation of the skin' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypopigmentation of the skin' - -Class: http://purl.obolibrary.org/obo/MONDO_0019289 -Label(s): hyperpigmentation of the skin -- 'hyperpigmentation of the skin' EquivalentTo 'disease' and ('disease has major feature' some 'Hyperpigmentation of the skin') -- 'hyperpigmentation of the skin' SubClassOf 'disease has major feature' some 'Hyperpigmentation of the skin' -+ 'hyperpigmentation of the skin' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperpigmentation of the skin' -+ 'hyperpigmentation of the skin' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperpigmentation of the skin') - -Class: http://purl.obolibrary.org/obo/MONDO_0019287 -Label(s): ectodermal dysplasia syndrome -- 'ectodermal dysplasia syndrome' SubClassOf 'disease_has_basis_in_development_of' some 'ectoderm' -+ 'ectodermal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of some 'ectoderm' - -Class: http://purl.obolibrary.org/obo/MONDO_0011892 -Label(s): epilepsy, idiopathic generalized, susceptibility to, 9 -- 'epilepsy, idiopathic generalized, susceptibility to, 9' SubClassOf 'predisposes towards' some 'generalised epilepsy' -+ 'epilepsy, idiopathic generalized, susceptibility to, 9' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'generalised epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0011847 -Label(s): migraine without aura, susceptibility to, 4 -- 'migraine without aura, susceptibility to, 4' SubClassOf 'predisposes towards' some 'migraine without aura' -+ 'migraine without aura, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'migraine without aura' - -Class: http://purl.obolibrary.org/obo/MONDO_0011841 -Label(s): biotin-responsive basal ganglia disease -- 'biotin-responsive basal ganglia disease' SubClassOf 'disease responds to' some 'biotin' -- 'biotin-responsive basal ganglia disease' EquivalentTo 'basal ganglia disease' and ('disease responds to' some 'biotin') -+ 'biotin-responsive basal ganglia disease' EquivalentTo 'basal ganglia disease' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'biotin') -+ 'biotin-responsive basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'biotin' - -Class: http://purl.obolibrary.org/obo/MONDO_0011772 -Label(s): B4GALT1-congenital disorder of glycosylation -- 'B4GALT1-congenital disorder of glycosylation' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'B4GALT1-congenital disorder of glycosylation' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0019132 -Label(s): spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome -- 'spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0100195 -Label(s): X-linked intellectual disability with hypopituitarism -- 'X-linked intellectual disability with hypopituitarism' EquivalentTo 'syndromic intellectual disability' and ('disease has major feature' some 'hypopituitarism') -- 'X-linked intellectual disability with hypopituitarism' SubClassOf 'disease has major feature' some 'hypopituitarism' -+ 'X-linked intellectual disability with hypopituitarism' EquivalentTo 'syndromic intellectual disability' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'hypopituitarism') -+ 'X-linked intellectual disability with hypopituitarism' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'hypopituitarism' - -Class: http://purl.obolibrary.org/obo/MONDO_0100182 -Label(s): schizophrenia, susceptibility to -- 'schizophrenia, susceptibility to' SubClassOf 'predisposes towards' some 'schizophrenia' -- 'schizophrenia, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'schizophrenia') -+ 'schizophrenia, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'schizophrenia' -+ 'schizophrenia, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'schizophrenia') - -Class: http://purl.obolibrary.org/obo/MONDO_0100178 -Label(s): dermatitis, atopic, susceptibility to -- 'dermatitis, atopic, susceptibility to' SubClassOf 'predisposes towards' some 'dermatitis, atopic' -+ 'dermatitis, atopic, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'dermatitis, atopic' - -Class: http://purl.obolibrary.org/obo/MONDO_0100173 -Label(s): leukemia, acute myeloid, susceptibility to -- 'leukemia, acute myeloid, susceptibility to' SubClassOf 'predisposes towards' some 'acute myeloid leukemia' -+ 'leukemia, acute myeloid, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'acute myeloid leukemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0100167 -Label(s): pulmonary disease, chronic obstructive, susceptibility to -- 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf 'predisposes towards' some 'chronic obstructive pulmonary disease' -+ 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'chronic obstructive pulmonary disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0016120 -Label(s): myotonic syndrome -- 'myotonic syndrome' SubClassOf 'disease has major feature' some 'Myotonia' -- 'myotonic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'Myotonia') -+ 'myotonic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Myotonia') -+ 'myotonic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Myotonia' - -Class: http://purl.obolibrary.org/obo/MONDO_0100135 -Label(s): Dravet syndrome -- 'Dravet syndrome' SubClassOf 'disease shares features of' some 'developmental and epileptic encephalopathy, 6' -+ 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'developmental and epileptic encephalopathy, 6' - -Class: http://purl.obolibrary.org/obo/MONDO_0100121 -Label(s): SCN4A-related myopathy, autosomal recessive -- 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'Decreased fetal movement' -- 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'Skeletal muscle atrophy' -- 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'craniosynostosis' -+ 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Decreased fetal movement' -+ 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'craniosynostosis' -+ 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Skeletal muscle atrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0100110 -Label(s): adenovirus renal infection -- 'adenovirus renal infection' SubClassOf 'disease has major feature' some 'Severe adenovirus infection' -+ 'adenovirus renal infection' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Severe adenovirus infection' - -Class: http://purl.obolibrary.org/obo/MONDO_0019078 -Label(s): Ritscher-Schinzel syndrome -- 'Ritscher-Schinzel syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Ritscher-Schinzel syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0011684 -Label(s): vitiligo-associated multiple autoimmune disease susceptibility 1 -- 'vitiligo-associated multiple autoimmune disease susceptibility 1' SubClassOf 'predisposes towards' some 'type II hypersensitivity reaction disease' -+ 'vitiligo-associated multiple autoimmune disease susceptibility 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'type II hypersensitivity reaction disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0011676 -Label(s): PHACE syndrome -- 'PHACE syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0019046 -Label(s): leukodystrophy -- 'leukodystrophy' SubClassOf 'disease has major feature' some 'CNS hypomyelination' -+ 'leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'CNS hypomyelination' - -Class: http://purl.obolibrary.org/obo/MONDO_0011650 -Label(s): atrioventricular septal defect, susceptibility to, 2 -- 'atrioventricular septal defect, susceptibility to, 2' SubClassOf 'predisposes towards' some 'familial atrioventricular septal defect' -+ 'atrioventricular septal defect, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'familial atrioventricular septal defect' - -Class: http://purl.obolibrary.org/obo/BTO_0005136 -Label(s): ES-E14 cell -- 'ES-E14 cell' SubClassOf 'derives_from' some -('stem cell' and ('part_of' some -(('developmental stage' or 'organism part') and ('part_of' some 'organism')))) -- 'ES-E14 cell' SubClassOf 'stem cell derived cell line' -+ 'ES-E14 cell' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/MONDO_0012132 -Label(s): colorectal cancer, susceptibility to, 1 -- 'colorectal cancer, susceptibility to, 1' SubClassOf 'predisposes towards' some 'colorectal cancer' -+ 'colorectal cancer, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'colorectal cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0100079 -Label(s): developmental and epileptic encephalopathy, 6 -- 'developmental and epileptic encephalopathy, 6' SubClassOf 'disease shares features of' some 'Dravet syndrome' -+ 'developmental and epileptic encephalopathy, 6' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Dravet syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0100052 -Label(s): acetazolamide-responsive hereditary episodic ataxia -- 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf 'disease responds to' some 'acetazolamide' -- 'acetazolamide-responsive hereditary episodic ataxia' EquivalentTo 'hereditary episodic ataxia' and ('disease responds to' some 'acetazolamide') -+ 'acetazolamide-responsive hereditary episodic ataxia' EquivalentTo 'hereditary episodic ataxia' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide') -+ 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide' - -Class: http://purl.obolibrary.org/obo/MONDO_0100048 -Label(s): graft-versus-host disease, susceptibility to -- 'graft-versus-host disease, susceptibility to' SubClassOf 'predisposes towards' some 'graft versus host disease' -+ 'graft-versus-host disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'graft versus host disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0100046 -Label(s): exfoliation syndrome, susceptibility to -- 'exfoliation syndrome, susceptibility to' SubClassOf 'predisposes towards' some 'exfoliation syndrome' -+ 'exfoliation syndrome, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'exfoliation syndrome' - -Class: http://purl.obolibrary.org/obo/BTO_0002180 -Label(s): 184B5 cell -- '184B5 cell' SubClassOf 'mammary gland cell line' -- '184B5 cell' SubClassOf 'derives_from' some 'HMEpC cell' -+ '184B5 cell' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/MONDO_0011581 -Label(s): arrhythmogenic cardiomyopathy with wooly hair and keratoderma -- 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Woolly hair' -- 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' -- 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Palmoplantar keratoderma' -+ 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' -+ 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Woolly hair' -+ 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Palmoplantar keratoderma' - -Class: http://www.ebi.ac.uk/efo/EFO_0006713 -Label(s): OCI-M2 -- 'OCI-M2' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0011496 -Label(s): mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis -- 'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'type 2 collagenopathy' -+ 'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_1030002 - -Class: http://purl.obolibrary.org/obo/MONDO_0020460 -Label(s): acquired von willebrand syndrome -- 'acquired von willebrand syndrome' SubClassOf 'disease shares features of' some 'hereditary von Willebrand disease' -+ 'acquired von willebrand syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'hereditary von Willebrand disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0020485 -Label(s): King-Denborough syndrome -- 'King-Denborough syndrome' SubClassOf 'disease shares features of' some 'Noonan syndrome' -+ 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Noonan syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0018425 -Label(s): Huntington disease-like syndrome due to C9ORF72 expansions -- 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'disease has major feature' some 'dementia' -+ 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' - -Class: http://purl.obolibrary.org/obo/MONDO_0018430 -Label(s): partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome -- 'partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0016987 -Label(s): neuroacanthocytosis -- 'neuroacanthocytosis' SubClassOf 'disease has major feature' some 'dementia' -+ 'neuroacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' - -Class: http://www.ebi.ac.uk/efo/EFO_0002804 -Label(s): TH-2 -- 'TH-2' SubClassOf 'ENCODE cell line' -- 'TH-2' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('organism part' and ('part_of' some 'organism')))) -+ 'TH-2' SubClassOf 'primary cell' - -Class: http://www.ebi.ac.uk/efo/EFO_0002803 -Label(s): TH-1 -- 'TH-1' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('organism part' and ('part_of' some 'organism')))) -- 'TH-1' SubClassOf 'ENCODE cell line' -+ 'TH-1' SubClassOf 'primary cell' - -Class: http://purl.obolibrary.org/obo/MONDO_0015526 -Label(s): cold-induced sweating syndrome -- 'cold-induced sweating syndrome' SubClassOf 'disease has major feature' some 'Cold-induced sweating' -+ 'cold-induced sweating syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cold-induced sweating' - -Class: http://www.ebi.ac.uk/efo/EFO_0002798 -Label(s): NB4 -- 'NB4' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0002793 -Label(s): HL-60 -- 'HL-60' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0011163 -Label(s): malignant hyperthermia, susceptibility to, 5 -- 'malignant hyperthermia, susceptibility to, 5' SubClassOf 'predisposes towards' some 'malignant hyperthermia of anesthesia' -+ 'malignant hyperthermia, susceptibility to, 5' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malignant hyperthermia of anesthesia' - -Class: http://purl.obolibrary.org/obo/MONDO_0020722 -Label(s): nephrolithiasis susceptibility caused by SLC26A1 -- 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf 'predisposes towards' some 'nephrolithiasis' -+ 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'nephrolithiasis' - -Class: http://purl.obolibrary.org/obo/MONDO_0011157 -Label(s): Gomez-Lopez-Hernandez syndrome -- 'Gomez-Lopez-Hernandez syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Gomez-Lopez-Hernandez syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0011147 -Label(s): chromosome 18q deletion syndrome -- 'chromosome 18q deletion syndrome' SubClassOf 'disease has major feature' some 'cataract' -+ 'chromosome 18q deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'cataract' - -Class: http://purl.obolibrary.org/obo/MONDO_0011138 -Label(s): systemic lupus erythematosus, susceptibility to, 1 -- 'systemic lupus erythematosus, susceptibility to, 1' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus' -+ 'systemic lupus erythematosus, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'systemic lupus erythematosus' - -Class: http://www.ebi.ac.uk/efo/EFO_0006431 -Label(s): HCC2279 -+ 'HCC2279' SubClassOf 'bearer_of' some 'carcinoma' -+ 'HCC2279' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('organism part' and ('part_of' some 'Homo sapiens')))) -+ 'HCC2279' SubClassOf 'Homo sapiens cell line' - -Class: http://purl.obolibrary.org/obo/BTO_0000018 -Label(s): A-549 cell -- 'A-549 cell' SubClassOf 'cultured cell' and ('bearer_of' some 'lung carcinoma') -- 'A-549 cell' SubClassOf 'lung cancer cell line' -+ 'A-549 cell' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://www.ebi.ac.uk/efo/EFO_0001239 -Label(s): SUM1315MO2 -- 'SUM1315MO2' SubClassOf 'breast cancer cell line' -+ 'SUM1315MO2' SubClassOf 'Homo sapiens cell line' -+ 'SUM1315MO2' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('breast' and ('part_of' some 'Homo sapiens')))) -+ 'SUM1315MO2' SubClassOf 'bearer_of' some 'invasive breast ductal carcinoma' -+ 'SUM1315MO2' SubClassOf 'breast adenocarcinoma cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0016571 -Label(s): macrocephaly-short stature-paraplegia syndrome -- 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'macrocephaly-short stature-paraplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0044701 -Label(s): childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder -- 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0021569 -Label(s): Emery-Dreifuss muscular dystrophy 2, autosomal dominant -- 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf 'disease shares features of' some 'X-linked Emery-Dreifuss muscular dystrophy' -+ 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'X-linked Emery-Dreifuss muscular dystrophy' - -Class: http://www.ebi.ac.uk/efo/EFO_0002352 -Label(s): SR -+ 'SR' SubClassOf 'derives_from' some -('T cell' and ('part_of' some -('blood' and ('part_of' some 'Homo sapiens')))) -+ 'SR' SubClassOf 'has quality' some 'male' - -Class: http://www.ebi.ac.uk/efo/EFO_0002339 -Label(s): SKO007 -- 'SKO007' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0002329 -Label(s): SJRH30 -- 'SJRH30' SubClassOf 'bearer_of' some 'rhabdomyosarcoma' -- 'SJRH30' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('musculature' and ('part_of' some 'Homo sapiens')))) -- 'SJRH30' SubClassOf 'Homo sapiens cell line' -- 'SJRH30' SubClassOf 'cancer cell line' -+ 'SJRH30' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://www.ebi.ac.uk/efo/EFO_0002302 -Label(s): NCI-H720 -- 'NCI-H720' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('lung' and ('part_of' some 'Homo sapiens')))) -- 'NCI-H720' SubClassOf 'Homo sapiens cell line' -+ 'NCI-H720' SubClassOf 'H720' - -Class: http://www.ebi.ac.uk/efo/EFO_0001084 -Label(s): 3T3-L1 -+ '3T3-L1' SubClassOf 'derives_from' some -('fibroblast' and ('part_of' some -('organism part' and ('part_of' some 'Mus musculus')))) -+ '3T3-L1' SubClassOf 'derives_from' some 'NIH3T3' - -Class: http://purl.obolibrary.org/obo/MONDO_0002203 -Label(s): constipation disorder -- 'constipation disorder' SubClassOf 'disease has major feature' some 'Constipation' -- 'constipation disorder' EquivalentTo 'disease' and ('disease has major feature' some 'Constipation') -+ 'constipation disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Constipation' -+ 'constipation disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Constipation') - -Class: http://www.ebi.ac.uk/efo/EFO_0002242 -Label(s): MV4II -- 'MV4II' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0002225 -Label(s): L428 -+ 'L428' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('pleura' and ('part_of' some 'Homo sapiens')))) - -Class: http://purl.obolibrary.org/obo/MONDO_0016364 -Label(s): Joubert syndrome with ocular defect -- 'Joubert syndrome with ocular defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0016354 -Label(s): xeroderma pigmentosum-Cockayne syndrome complex -- 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease shares features of' some 'xeroderma pigmentosum' -- 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease shares features of' some 'Cockayne syndrome' -+ 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Cockayne syndrome' -+ 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'xeroderma pigmentosum' - -Class: http://www.ebi.ac.uk/efo/EFO_0006753 -Label(s): SKM-1 -- 'SKM-1' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0001191 -Label(s): HMT3522S1 -+ 'HMT3522S1' SubClassOf 'derives_from' some -('epithelial cell' and ('part_of' some -('mammary gland' and ('part_of' some 'Homo sapiens')))) -+ 'HMT3522S1' SubClassOf 'mammary gland cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0002194 -Label(s): HH -- 'HH' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0007752 -Label(s): VCaP -- 'VCaP' SubClassOf 'cancer cell line' -+ 'VCaP' SubClassOf 'prostate cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0001219 -Label(s): MM1 -- 'MM1' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0001247 -Label(s): T47D -- 'T47D' SubClassOf 'breast cancer cell line' -+ 'T47D' SubClassOf 'bearer_of' some 'breast ductal adenocarcinoma' -+ 'T47D' SubClassOf 'derives_from' some -('mammary gland epithelial cell' and ('part_of' some -('organism part' and ('part_of' some 'Homo sapiens')))) -+ 'T47D' SubClassOf 'breast adenocarcinoma cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0001254 -Label(s): U266 -- 'U266' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0018045 -Label(s): Hoyeraal-Hreidarsson syndrome -- 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0044315 -Label(s): craniosynostosis 7 -- 'craniosynostosis 7' SubClassOf 'predisposes towards' some 'craniosynostosis' -+ 'craniosynostosis 7' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'craniosynostosis' - -Class: http://www.ebi.ac.uk/efo/EFO_1001467 -Label(s): Hypereosinophilic syndrome -- 'Hypereosinophilic syndrome' SubClassOf 'disease has major feature' some 'Eosinophilia' -- 'Hypereosinophilic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'Eosinophilia') -+ 'Hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Eosinophilia' -+ 'Hypereosinophilic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Eosinophilia') - -Class: http://www.ebi.ac.uk/efo/EFO_1001402 -Label(s): postencephalitic Parkinson disease -- 'postencephalitic Parkinson disease' SubClassOf 'disease has major feature' some 'dementia' -+ 'postencephalitic Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' - -Class: http://purl.obolibrary.org/obo/MONDO_0000065 -Label(s): microvascular complications of diabetes, susceptibility -- 'microvascular complications of diabetes, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'diabetic retinopathy') -- 'microvascular complications of diabetes, susceptibility' SubClassOf 'predisposes towards' some 'diabetic retinopathy' -+ 'microvascular complications of diabetes, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'diabetic retinopathy') -+ 'microvascular complications of diabetes, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'diabetic retinopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0021187 -Label(s): hyperlipidemia -- 'hyperlipidemia' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Hyperlipidemia') -- 'hyperlipidemia' SubClassOf 'disease has major feature' some 'Hyperlipidemia' -+ 'hyperlipidemia' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipidemia') -+ 'hyperlipidemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipidemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0000152 -Label(s): thiamine-responsive dysfunction syndrome -- 'thiamine-responsive dysfunction syndrome' SubClassOf 'disease responds to' some 'vitamin B1' -+ 'thiamine-responsive dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'vitamin B1' - -Class: http://purl.obolibrary.org/obo/MONDO_0021058 -Label(s): neoplastic syndrome -- 'neoplastic syndrome' SubClassOf 'disease has major feature' some 'neoplasm' -- 'neoplastic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'neoplasm') -+ 'neoplastic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'neoplasm') -+ 'neoplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0021024 -Label(s): malaria, susceptibility to -- 'malaria, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'malaria') -- 'malaria, susceptibility to' SubClassOf 'predisposes towards' some 'malaria' -+ 'malaria, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malaria' -+ 'malaria, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malaria') - -Class: http://www.ebi.ac.uk/efo/EFO_0030017 -Label(s): RCH-ACV -- 'RCH-ACV' SubClassOf 'lymphoma or leukaemia cell line' -- 'RCH-ACV' SubClassOf 'derives_from' some -('bone marrow' and ('part_of' some 'Homo sapiens') and ('bearer_of' some 'acute lymphoblastic leukemia') and ('has quality' some 'female')) -+ 'RCH-ACV' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/BTO_0000797 -Label(s): colonic cancer cell line -- 'colonic cancer cell line' SubClassOf 'cultured cell' -+ 'colonic cancer cell line' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0002046 -Label(s): BC-3 -- 'BC-3' SubClassOf 'cultured cell' -+ 'BC-3' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0002059 -Label(s): HT1080 -+ 'HT1080' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('connective tissue' and ('part_of' some 'Homo sapiens')))) - -Class: http://purl.obolibrary.org/obo/MONDO_0010940 -Label(s): inherited susceptibility to asthma -- 'inherited susceptibility to asthma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'asthma') -- 'inherited susceptibility to asthma' SubClassOf 'predisposes towards' some 'asthma' -+ 'inherited susceptibility to asthma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'asthma') -+ 'inherited susceptibility to asthma' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'asthma' - -Class: http://purl.obolibrary.org/obo/MONDO_0054754 -Label(s): encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 -- 'encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy' -+ 'encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Mendelian encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0054750 -Label(s): amyotrophic lateral sclerosis, susceptibility to, 24 -- 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf 'predisposes towards' some 'familial amyotrophic lateral sclerosis' -+ 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'familial amyotrophic lateral sclerosis' - -Class: http://www.ebi.ac.uk/efo/EFO_1001175 -Label(s): secondary Parkinson disease -- 'secondary Parkinson disease' SubClassOf 'disease shares features of' some 'Parkinson disease' -+ 'secondary Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Parkinson disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0000365 -Label(s): primary congenital glaucoma -- 'primary congenital glaucoma' SubClassOf 'congenital glaucoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0008919 -Label(s): systemic primary carnitine deficiency disease -+ 'systemic primary carnitine deficiency disease' SubClassOf 'inborn disorder of amino acid metabolism' - -Class: http://www.ebi.ac.uk/efo/EFO_1001053 -Label(s): myoclonic cerebellar dyssynergia -- 'myoclonic cerebellar dyssynergia' SubClassOf 'disease shares features of' some 'myoclonic cerebellar dyssynergia' -+ 'myoclonic cerebellar dyssynergia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'myoclonic cerebellar dyssynergia' - -Class: http://purl.obolibrary.org/obo/MONDO_0013920 -Label(s): herpes simplex encephalitis, susceptibility to, 3 -- 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy' -+ 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Mendelian encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0008891 -Label(s): riboflavin transporter deficiency -- 'riboflavin transporter deficiency' SubClassOf 'disease has major feature' some 'Sensorineural hearing impairment' -- 'riboflavin transporter deficiency' SubClassOf 'disease has major feature' some 'bulbospinal muscular atrophy' -+ 'riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'bulbospinal muscular atrophy' -+ 'riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Sensorineural hearing impairment' - -Class: http://purl.obolibrary.org/obo/MONDO_0018591 -Label(s): ITM2B amyloidosis -- 'ITM2B amyloidosis' SubClassOf 'disease has major feature' some 'dementia' -+ 'ITM2B amyloidosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' - -Class: http://www.ebi.ac.uk/efo/EFO_0007136 -Label(s): agnosia -- 'agnosia' EquivalentTo 'perceptual disorders' and ('disease has major feature' some 'Disturbed sensory perception') -- 'agnosia' SubClassOf 'disease has major feature' some 'Disturbed sensory perception' -+ 'agnosia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Disturbed sensory perception' -+ 'agnosia' EquivalentTo 'perceptual disorders' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Disturbed sensory perception') - -Class: http://www.ebi.ac.uk/efo/EFO_0006579 -Label(s): HEL -- 'HEL' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0013876 -Label(s): basal cell carcinoma, susceptibility to, 7 -- 'basal cell carcinoma, susceptibility to, 7' SubClassOf 'predisposes towards' some 'skin basal cell carcinoma' -+ 'basal cell carcinoma, susceptibility to, 7' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'skin basal cell carcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0009266 -Label(s): refractory celiac disease -- 'refractory celiac disease' SubClassOf 'disease shares features of' some 'celiac disease' -+ 'refractory celiac disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'celiac disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0022818 -Label(s): NS-0 -- 'NS-0' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022817 -Label(s): PFHR 9 -+ 'PFHR 9' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0008763 -Label(s): Alstrom syndrome -- 'Alstrom syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' -+ 'Alstrom syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0008711 -Label(s): Goodman syndrome -- 'Goodman syndrome' SubClassOf 'disease shares features of' some 'Carpenter syndrome' -+ 'Goodman syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Carpenter syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0002205 -Label(s): Hep3B -+ 'Hep3B' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('liver' and ('part_of' some 'Homo sapiens')))) - -Class: http://www.ebi.ac.uk/efo/EFO_0002207 -Label(s): HuNS1 -- 'HuNS1' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022786 -Label(s): RT4 NF2.17 -+ 'RT4 NF2.17 ' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022785 -Label(s): RT4-67 -+ 'RT4-67' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022777 -Label(s): AtT-20 -+ 'AtT-20' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022774 -Label(s): P-19 -+ 'P-19' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022768 -Label(s): H-4-II-E -+ 'H-4-II-E' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022764 -Label(s): RIN-m -+ 'RIN-m' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022712 -Label(s): LN-428 -+ 'LN-428' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022706 -Label(s): U3082MG -+ 'U3082MG' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022705 -Label(s): U3118MG -+ 'U3118MG' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0013685 -Label(s): pancreatic cancer, susceptibility to, 4 -- 'pancreatic cancer, susceptibility to, 4' SubClassOf 'predisposes towards' some 'Malignant Pancreatic Neoplasm' -+ 'pancreatic cancer, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Malignant Pancreatic Neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_0022694 -Label(s): MOLM-13 -- 'MOLM-13' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022665 -Label(s): SF-188 -+ 'SF-188' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022643 -Label(s): BON-1 -+ 'BON-1 ' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022627 -Label(s): U-178MG -+ 'U-178MG' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0008570 -Label(s): thyrotoxic periodic paralysis, susceptibility to, 1 -- 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf 'predisposes towards' some 'thyrotoxic periodic paralysis' -+ 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'thyrotoxic periodic paralysis' - -Class: http://purl.obolibrary.org/obo/MONDO_0013568 -Label(s): sick sinus syndrome 3, susceptibility to -- 'sick sinus syndrome 3, susceptibility to' SubClassOf 'predisposes towards' some 'sick sinus syndrome' -+ 'sick sinus syndrome 3, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'sick sinus syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0022535 -Label(s): HAP1 -- 'HAP1' SubClassOf 'Homo sapiens cell line' -- 'HAP1' SubClassOf 'chronic myelogenous leukemia cell line' -- 'HAP1' SubClassOf 'bearer_of' some 'chronic myelogenous leukemia' -- 'HAP1' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('bone marrow' and ('part_of' some 'Homo sapiens')))) -+ 'HAP1' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://www.ebi.ac.uk/efo/EFO_0022532 -Label(s): NB4-MR2 -- 'NB4-MR2' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022523 -Label(s): KBM-3 -- 'KBM-3' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0013409 -Label(s): age related macular degeneration 5 -- 'age related macular degeneration 5' SubClassOf 'predisposes towards' some 'age-related macular degeneration' -+ 'age related macular degeneration 5' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'age-related macular degeneration' - -Class: http://www.ebi.ac.uk/efo/EFO_0022446 -Label(s): MOLM-14 cell -- 'MOLM-14 cell' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022439 -Label(s): ML-1 cell -- 'ML-1 cell' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022428 -Label(s): KOPN-8 cell -- 'KOPN-8 cell' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022426 -Label(s): M-07E cell -- 'M-07E cell' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0001166 -Label(s): H720 -+ 'H720' SubClassOf 'Homo sapiens cell line' -+ 'H720' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('lung' and ('part_of' some 'Homo sapiens')))) - -Class: http://purl.obolibrary.org/obo/MONDO_0008419 -Label(s): scoliosis, isolated, susceptibility to, 1 -- 'scoliosis, isolated, susceptibility to, 1' SubClassOf 'predisposes towards' some 'idiopathic scoliosis' -+ 'scoliosis, isolated, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'idiopathic scoliosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0013340 -Label(s): Parkinson disease 5, autosomal dominant, susceptibility to -- 'Parkinson disease 5, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'Parkinson disease' -+ 'Parkinson disease 5, autosomal dominant, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Parkinson disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0022399 -Label(s): AML-193 cell -- 'AML-193 cell' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022398 -Label(s): TF1 cell -- 'TF1 cell' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022388 -Label(s): T-47D cell -- 'T-47D cell' SubClassOf 'epithelial cell derived cell line' -- 'T-47D cell' SubClassOf 'bearer_of' some 'breast ductal adenocarcinoma' -- 'T-47D cell' SubClassOf 'breast adenocarcinoma cell line' -- 'T-47D cell' SubClassOf 'derives_from' some -('mammary gland epithelial cell' and ('part_of' some -('organism part' and ('part_of' some 'Homo sapiens')))) -- 'T-47D cell' SubClassOf 'Homo sapiens cell line' -+ 'T-47D cell' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://www.ebi.ac.uk/efo/EFO_0022386 -Label(s): HEP-3B cell -- 'HEP-3B cell' SubClassOf 'Homo sapiens cell line' -- 'HEP-3B cell' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('liver' and ('part_of' some 'Homo sapiens')))) -- 'HEP-3B cell' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' -- 'HEP-3B cell' SubClassOf 'hepatoma cell line' -+ 'HEP-3B cell' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://www.ebi.ac.uk/efo/EFO_0022380 -Label(s): L-428 cell -- 'L-428 cell' SubClassOf 'bearer_of' some 'Hodgkins lymphoma' -- 'L-428 cell' SubClassOf 'Homo sapiens cell line' -- 'L-428 cell' SubClassOf 'lymphoma or leukaemia cell line' -- 'L-428 cell' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('pleura' and ('part_of' some 'Homo sapiens')))) -+ 'L-428 cell' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/MONDO_0013311 -Label(s): ectodermal dysplasia-syndactyly syndrome -- 'ectodermal dysplasia-syndactyly syndrome' SubClassOf 'disease has major feature' some 'Syndactyly' -+ 'ectodermal dysplasia-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Syndactyly' - -Class: http://purl.obolibrary.org/obo/MONDO_0000836 -Label(s): disease of bone structure -- 'disease of bone structure' SubClassOf 'disease has major feature' some 'Abnormal skeletal morphology' -+ 'disease of bone structure' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal skeletal morphology' - -Class: http://purl.obolibrary.org/obo/MONDO_0019002 -Label(s): Lhermitte-Duclos disease -- 'Lhermitte-Duclos disease' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Lhermitte-Duclos disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0018861 -Label(s): Zellweger-like syndrome without peroxisomal anomalies -- 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'disease shares features of' some 'Zellweger spectrum disorders' -+ 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Zellweger spectrum disorders' - -Class: http://purl.obolibrary.org/obo/MONDO_0018838 -Label(s): lissencephaly spectrum disorders -- 'lissencephaly spectrum disorders' SubClassOf 'disease has major feature' some 'Lissencephaly' -+ 'lissencephaly spectrum disorders' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Lissencephaly' - -Class: http://purl.obolibrary.org/obo/MONDO_0018822 -Label(s): global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome -- 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0008162 -Label(s): otitis media, susceptibility to -- 'otitis media, susceptibility to' SubClassOf 'predisposes towards' some 'Otitis media' -- 'otitis media, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Otitis media') -+ 'otitis media, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Otitis media' -+ 'otitis media, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Otitis media') - -Class: http://purl.obolibrary.org/obo/MONDO_0007885 -Label(s): Legg-Calve-Perthes disease -- 'Legg-Calve-Perthes disease' SubClassOf 'type 2 collagenopathy' -+ 'Legg-Calve-Perthes disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_1030002 - -Class: http://purl.obolibrary.org/obo/MONDO_0018763 -Label(s): tubulinopathy-associated dysgyria -- 'tubulinopathy-associated dysgyria' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'tubulinopathy-associated dysgyria' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0000685 -Label(s): visual agnosia -- 'visual agnosia' SubClassOf 'disease has major feature' some 'Visual agnosia' -+ 'visual agnosia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Visual agnosia' - -Class: http://purl.obolibrary.org/obo/MONDO_0013713 -Label(s): dengue virus, susceptibility to -- 'dengue virus, susceptibility to' SubClassOf 'predisposes towards' some 'dengue disease' -- 'dengue virus, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'dengue disease') -+ 'dengue virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'dengue disease' -+ 'dengue virus, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'dengue disease') - -Class: http://purl.obolibrary.org/obo/MONDO_0013722 -Label(s): hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism -- 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/CL_0000115 -Label(s): endothelial cell -- 'endothelial cell' SubClassOf 'epithelial cell' -+ 'endothelial cell' SubClassOf 'cell' -+ 'endothelial cell' SubClassOf 'cell type' - -Class: http://purl.obolibrary.org/obo/MONDO_0013088 -Label(s): follicular lymphoma, susceptibility to, 1 -- 'follicular lymphoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'follicular lymphoma' -+ 'follicular lymphoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'follicular lymphoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0013083 -Label(s): neuroblastoma, susceptibility to, 3 -- 'neuroblastoma, susceptibility to, 3' SubClassOf 'predisposes towards' some 'neuroblastoma' -+ 'neuroblastoma, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neuroblastoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0008738 -Label(s): aganglionosis, total intestinal -- 'aganglionosis, total intestinal' SubClassOf 'disease shares features of' some 'Hirschsprung disease' -+ 'aganglionosis, total intestinal' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Hirschsprung disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0013562 -Label(s): aspergillosis, susceptibility to -- 'aspergillosis, susceptibility to' SubClassOf 'predisposes towards' some 'aspergillosis' -- 'aspergillosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'aspergillosis') -+ 'aspergillosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'aspergillosis') -+ 'aspergillosis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'aspergillosis' - -Class: http://purl.obolibrary.org/obo/CL_0000071 -Label(s): blood vessel endothelial cell -- 'blood vessel endothelial cell' SubClassOf 'squamous epithelial cell' - -Class: http://purl.obolibrary.org/obo/MONDO_0013855 -Label(s): influenza, severe, susceptibility to -- 'influenza, severe, susceptibility to' SubClassOf 'predisposes towards' some 'influenza' -+ 'influenza, severe, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'influenza' - -Class: http://www.ebi.ac.uk/efo/EFO_0006307 -Label(s): UKE1 -- 'UKE1' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022671 -Label(s): UWR2 -+ 'UWR2' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0013921 -Label(s): herpes simplex encephalitis, susceptibility to, 4 -- 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy' -+ 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Mendelian encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0008915 -Label(s): dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome -- 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'disease has major feature' some 'Hypergonadotropic hypogonadism' -- 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' -+ 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' -+ 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypergonadotropic hypogonadism' - -Class: http://purl.obolibrary.org/obo/MONDO_0018493 -Label(s): malignant hyperthermia of anesthesia -- 'malignant hyperthermia of anesthesia' SubClassOf 'disease has major feature' some 'Malignant hyperthermia' -+ 'malignant hyperthermia of anesthesia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Malignant hyperthermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0000358 -Label(s): orofacial cleft -- 'orofacial cleft' SubClassOf 'disease_has_basis_in_development_of' some 'embryonic facial prominence' -- 'orofacial cleft' SubClassOf 'disease has major feature' some 'Orofacial cleft' -+ 'orofacial cleft' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of some 'embryonic facial prominence' -+ 'orofacial cleft' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Orofacial cleft' - -Class: http://www.ebi.ac.uk/efo/EFO_0004280 -Label(s): movement disorder -- 'movement disorder' EquivalentTo 'disease' and ('disease has major feature' some 'Abnormality of movement') -- 'movement disorder' SubClassOf 'disease has major feature' some 'Abnormality of movement' -+ 'movement disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormality of movement' -+ 'movement disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormality of movement') - -Class: http://www.ebi.ac.uk/efo/EFO_0004152 -Label(s): chorea -- 'chorea' SubClassOf 'disease has major feature' some 'Chorea' -+ 'chorea' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Chorea' - -Class: http://purl.obolibrary.org/obo/MONDO_0018266 -Label(s): ataxia - telangiectasia variant -- 'ataxia - telangiectasia variant' SubClassOf 'disease shares features of' some 'ataxia telangiectasia' -+ 'ataxia - telangiectasia variant' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'ataxia telangiectasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0000162 -Label(s): autoimmune thyroid disease, susceptibility to -- 'autoimmune thyroid disease, susceptibility to' SubClassOf 'predisposes towards' some 'autoimmune thyroid disease' -- 'autoimmune thyroid disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'autoimmune thyroid disease') -+ 'autoimmune thyroid disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autoimmune thyroid disease' -+ 'autoimmune thyroid disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autoimmune thyroid disease') - -Class: http://purl.obolibrary.org/obo/MONDO_0000156 -Label(s): trigonocephaly -- 'trigonocephaly' SubClassOf 'disease has major feature' some 'Trigonocephaly' -+ 'trigonocephaly' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Trigonocephaly' - -Class: http://purl.obolibrary.org/obo/MONDO_0000108 -Label(s): bacteremia, susceptibility -- 'bacteremia, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'bacteriemia') -- 'bacteremia, susceptibility' SubClassOf 'predisposes towards' some 'bacteriemia' -+ 'bacteremia, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'bacteriemia') -+ 'bacteremia, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'bacteriemia' - -Class: http://www.ebi.ac.uk/efo/EFO_0022394 -Label(s): HT-1080 cell -- 'HT-1080 cell' SubClassOf 'cancer cell line' -- 'HT-1080 cell' SubClassOf 'bearer_of' some 'fibrosarcoma' -- 'HT-1080 cell' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('connective tissue' and ('part_of' some 'Homo sapiens')))) -- 'HT-1080 cell' SubClassOf 'Homo sapiens cell line' -+ 'HT-1080 cell' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/MONDO_0016033 -Label(s): Cornelia de Lange syndrome -- 'Cornelia de Lange syndrome' SubClassOf 'congenital limb malformation' -- 'Cornelia de Lange syndrome' SubClassOf 'dysostosis' -+ 'Cornelia de Lange syndrome' SubClassOf 'congenital limb malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0007681 -Label(s): goiter, multinodular 1, with or without Sertoli-Leydig cell tumors -+ 'goiter, multinodular 1, with or without Sertoli-Leydig cell tumors' SubClassOf 'DICER1-related tumor predisposition' - -Class: http://purl.obolibrary.org/obo/MONDO_0000070 -Label(s): Mycobacterium tuberculosis, susceptibility -- 'Mycobacterium tuberculosis, susceptibility' SubClassOf 'predisposes towards' some 'tuberculosis' -- 'Mycobacterium tuberculosis, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'tuberculosis') -+ 'Mycobacterium tuberculosis, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'tuberculosis') -+ 'Mycobacterium tuberculosis, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'tuberculosis' - -Class: http://www.ebi.ac.uk/efo/EFO_0022444 -Label(s): KP-L-RY -- 'KP-L-RY' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0022462 -Label(s): NOMO-1 cell -- 'NOMO-1 cell' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0002314 -Label(s): RCHACV -+ 'RCHACV' SubClassOf 'derives_from' some -('bone marrow' and ('part_of' some 'Homo sapiens') and ('bearer_of' some 'acute lymphoblastic leukemia') and ('has quality' some 'female')) - -Class: http://www.ebi.ac.uk/efo/EFO_0022513 -Label(s): UTMC-2 -- 'UTMC-2' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0009550 -Label(s): headache disorder -- 'headache disorder' SubClassOf 'disease has major feature' some 'Headache' -- 'headache disorder' EquivalentTo 'neurological pain disorder' and ('disease has major feature' some 'Headache') -+ 'headache disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Headache' -+ 'headache disorder' EquivalentTo 'neurological pain disorder' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Headache') - -Class: http://www.ebi.ac.uk/efo/EFO_0009532 -Label(s): autonomic nervous system disease -- 'autonomic nervous system disease' SubClassOf 'disease has major feature' some 'Abnormal autonomic nervous system physiology' -+ 'autonomic nervous system disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal autonomic nervous system physiology' - -Class: http://purl.obolibrary.org/obo/MONDO_0100440 -Label(s): Asperger syndrome, susceptibility to -- 'Asperger syndrome, susceptibility to' SubClassOf 'predisposes towards' some 'Asperger syndrome' -- 'Asperger syndrome, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Asperger syndrome') -+ 'Asperger syndrome, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Asperger syndrome') -+ 'Asperger syndrome, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Asperger syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0006611 -Label(s): KMM-1 -- 'KMM-1' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006612 -Label(s): KMS-12-BM -- 'KMS-12-BM' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006613 -Label(s): KMS-12-PE -- 'KMS-12-PE' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006614 -Label(s): KMS-21-BM -- 'KMS-21-BM' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0002937 -Label(s): lymphoma or leukaemia cell line -- 'lymphoma or leukaemia cell line' SubClassOf 'cultured cell' -+ 'lymphoma or leukaemia cell line' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006652 -Label(s): MOLM-16 -- 'MOLM-16' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0010574 -Label(s): syndromic X-linked intellectual disability 5 -- 'syndromic X-linked intellectual disability 5' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'syndromic X-linked intellectual disability 5' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0011775 -Label(s): nasopharyngeal carcinoma, susceptibility to, 1 -- 'nasopharyngeal carcinoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'nasopharyngeal carcinoma' -+ 'nasopharyngeal carcinoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'nasopharyngeal carcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0009430 -Label(s): neuralgia -- 'neuralgia' EquivalentTo 'peripheral neuropathy' and ('disease has major feature' some 'Pain') -+ 'neuralgia' EquivalentTo 'peripheral neuropathy' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Pain') - -Class: http://purl.obolibrary.org/obo/MONDO_0800453 -Label(s): juvenile absence epilepsy -- 'juvenile absence epilepsy' SubClassOf 'predisposes towards' some 'juvenile absence epilepsy' -+ 'juvenile absence epilepsy' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'juvenile absence epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0800425 -Label(s): coronary artery disease, severe, susceptibility to -- 'coronary artery disease, severe, susceptibility to' SubClassOf 'predisposes towards' some 'coronary artery disease' -+ 'coronary artery disease, severe, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0800421 -Label(s): cardiomyopathy, familial hypertrophic, 4, susceptibility to -- 'cardiomyopathy, familial hypertrophic, 4, susceptibility to' SubClassOf 'predisposes towards' some 'hypertrophic cardiomyopathy' -+ 'cardiomyopathy, familial hypertrophic, 4, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hypertrophic cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0800414 -Label(s): aplastic anemia, susceptibility to -- 'aplastic anemia, susceptibility to' SubClassOf 'predisposes towards' some 'aplastic anemia' -+ 'aplastic anemia, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'aplastic anemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0002527 -Label(s): keratoacanthoma -- 'keratoacanthoma' SubClassOf 'disease shares features of' some 'squamous cell carcinoma' -+ 'keratoacanthoma' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'squamous cell carcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0001253 -Label(s): THP-1 -- 'THP-1' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0010464 -Label(s): X-linked cerebral-cerebellar-coloboma syndrome syndrome -- 'X-linked cerebral-cerebellar-coloboma syndrome syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'X-linked cerebral-cerebellar-coloboma syndrome syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://www.ebi.ac.uk/efo/EFO_0022714 -Label(s): LN-308 -+ 'LN-308' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0010417 -Label(s): syndromic X-linked intellectual disability Najm type -- 'syndromic X-linked intellectual disability Najm type' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'syndromic X-linked intellectual disability Najm type' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://www.ebi.ac.uk/efo/EFO_0022778 -Label(s): RT4-D6P2T -+ 'RT4-D6P2T' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006712 -Label(s): OCI-M1 -- 'OCI-M1' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0010337 -Label(s): X-linked intellectual disability-cerebellar hypoplasia syndrome -- 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0001551 -Label(s): ulceration of vulva -- 'ulceration of vulva' SubClassOf 'disease has major feature' some 'Genital ulcers' -- 'ulceration of vulva' EquivalentTo 'disease' and ('disease has location' some 'mammalian vulva') and ('disease has major feature' some 'Genital ulcers') -+ 'ulceration of vulva' EquivalentTo 'disease' and ('disease has location' some 'mammalian vulva') and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Genital ulcers') -+ 'ulceration of vulva' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Genital ulcers' - -Class: http://purl.obolibrary.org/obo/CL_1000398 -Label(s): endothelial cell of hepatic sinusoid -- 'endothelial cell of hepatic sinusoid' SubClassOf 'endothelial cell' -+ 'endothelial cell of hepatic sinusoid' SubClassOf 'blood vessel endothelial cell' - -Class: http://purl.obolibrary.org/obo/MONDO_0016543 -Label(s): hyperphenylalaninemia due to tetrahydrobiopterin deficiency -- 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf 'disease shares features of' some 'phenylketonuria' -+ 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'phenylketonuria' - -Class: http://www.ebi.ac.uk/efo/EFO_0002248 -Label(s): NCI-H1048 -- 'NCI-H1048' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0010255 -Label(s): diabetes mellitus, insulin-dependent, X-linked, susceptibility to -- 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'type 1 diabetes mellitus') -- 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' SubClassOf 'predisposes towards' some 'type 1 diabetes mellitus' -+ 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'type 1 diabetes mellitus') -+ 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'type 1 diabetes mellitus' - -Class: http://purl.obolibrary.org/obo/MONDO_0800174 -Label(s): encephalitis, acute, infection-induced, susceptibility to -- 'encephalitis, acute, infection-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'encephalopathy, acute, infection-induced') -- 'encephalitis, acute, infection-induced, susceptibility to' SubClassOf 'predisposes towards' some 'encephalopathy, acute, infection-induced' -+ 'encephalitis, acute, infection-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'encephalopathy, acute, infection-induced') -+ 'encephalitis, acute, infection-induced, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'encephalopathy, acute, infection-induced' - -Class: http://purl.obolibrary.org/obo/MONDO_0800153 -Label(s): urea cycle disorder or inherited hyperammonemia -- 'urea cycle disorder or inherited hyperammonemia' SubClassOf 'disease has major feature' some 'Hyperammonemia' -+ 'urea cycle disorder or inherited hyperammonemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperammonemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0020836 -Label(s): autism, susceptiblity to -- 'autism, susceptiblity to' SubClassOf 'predisposes towards' some 'autism' -- 'autism, susceptiblity to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'autism') -+ 'autism, susceptiblity to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism') -+ 'autism, susceptiblity to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism' - -Class: http://purl.obolibrary.org/obo/MONDO_0010176 -Label(s): orofaciodigital syndrome type 6 -- 'orofaciodigital syndrome type 6' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'orofaciodigital syndrome type 6' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0010172 -Label(s): VACTERL with hydrocephalus -- 'VACTERL with hydrocephalus' SubClassOf 'disease shares features of' some 'VACTERL/vater association' -+ 'VACTERL with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'VACTERL/vater association' - -Class: http://www.ebi.ac.uk/efo/EFO_0009052 -Label(s): Pleuropulmonary blastoma -- 'Pleuropulmonary blastoma' SubClassOf 'genetic disorder' -+ 'Pleuropulmonary blastoma' SubClassOf 'DICER1-related tumor predisposition' - -Class: http://www.ebi.ac.uk/efo/EFO_0001223 -Label(s): NIH3T3-L1 -- 'NIH3T3-L1' SubClassOf 'embryonic cell line' -- 'NIH3T3-L1' SubClassOf 'derives_from' some 'NIH3T3' -- 'NIH3T3-L1' SubClassOf 'derives_from' some -('fibroblast' and ('part_of' some -('organism part' and ('part_of' some 'Mus musculus')))) -- 'NIH3T3-L1' SubClassOf 'mouse cell line' -- 'NIH3T3-L1' SubClassOf 'fibroblast derived cell line' -+ 'NIH3T3-L1' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/MONDO_0001673 -Label(s): diarrheal disease -- 'diarrheal disease' EquivalentTo 'disease' and ('disease has major feature' some 'Diarrhea') -- 'diarrheal disease' SubClassOf 'disease has major feature' some 'Diarrhea' -+ 'diarrheal disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Diarrhea') -+ 'diarrheal disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Diarrhea' - -Class: http://www.ebi.ac.uk/efo/EFO_0007319 -Label(s): hyperprolactinemia -- 'hyperprolactinemia' SubClassOf 'disease has major feature' some 'Increased circulating prolactin concentration' -+ 'hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Increased circulating prolactin concentration' - -Class: http://www.ebi.ac.uk/efo/EFO_0022374 -Label(s): sum1315 -- 'sum1315' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -('breast' and ('part_of' some 'Homo sapiens')))) -- 'sum1315' SubClassOf 'Homo sapiens cell line' -- 'sum1315' SubClassOf 'bearer_of' some 'invasive breast ductal carcinoma' -- 'sum1315' SubClassOf 'breast adenocarcinoma cell line' -+ 'sum1315' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/MONDO_0020752 -Label(s): myoclonic epilepsy, juvenile, susceptibility to, 1 -- 'myoclonic epilepsy, juvenile, susceptibility to, 1' SubClassOf 'predisposes towards' some 'juvenile myoclonic epilepsy' -+ 'myoclonic epilepsy, juvenile, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'juvenile myoclonic epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0020715 -Label(s): multiple system atrophy 1, susceptibility to -- 'multiple system atrophy 1, susceptibility to' SubClassOf 'predisposes towards' some 'multiple system atrophy' -+ 'multiple system atrophy 1, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'multiple system atrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0020705 -Label(s): neural tube defects, susceptibility to -- 'neural tube defects, susceptibility to' SubClassOf 'predisposes towards' some 'neural tube defect' -- 'neural tube defects, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'neural tube defect') -+ 'neural tube defects, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neural tube defect') -+ 'neural tube defects, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neural tube defect' - -Class: http://purl.obolibrary.org/obo/MONDO_0007845 -Label(s): Kaposi sarcoma, susceptibility to -- 'Kaposi sarcoma, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Kaposi's sarcoma') -- 'Kaposi sarcoma, susceptibility to' SubClassOf 'predisposes towards' some 'Kaposi's sarcoma' -+ 'Kaposi sarcoma, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Kaposi's sarcoma' -+ 'Kaposi sarcoma, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Kaposi's sarcoma') - -Class: http://purl.obolibrary.org/obo/MONDO_0015688 -Label(s): myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 -- 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf 'disease has major feature' some 'Eosinophilia' -+ 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Eosinophilia' - -Class: http://www.ebi.ac.uk/efo/EFO_1000968 -Label(s): hydrophthalmos -- 'hydrophthalmos' SubClassOf 'primary congenital glaucoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0030018 -Label(s): BLaER1 -- 'BLaER1' SubClassOf 'derives_from' some 'RCH-ACV' -+ 'BLaER1' SubClassOf 'derives_from' some 'RCHACV' -+ 'BLaER1' SubClassOf 'Homo sapiens cell line' - -Class: http://purl.obolibrary.org/obo/CL_0002633 -Label(s): respiratory basal cell -- 'respiratory basal cell' SubClassOf 'respiratory epithelial cell' - -Class: http://purl.obolibrary.org/obo/MONDO_0100216 -Label(s): DICER1-related tumor predisposition -- 'DICER1-related tumor predisposition' SubClassOf 'predisposes towards' some 'cancer' -+ 'DICER1-related tumor predisposition' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0015566 -Label(s): 2q24 microdeletion syndrome -- '2q24 microdeletion syndrome' SubClassOf 'disease has major feature' some 'cataract' -+ '2q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'cataract' - -Class: http://purl.obolibrary.org/obo/MONDO_0013032 -Label(s): epilepsy, idiopathic generalized, susceptibility to, 8 -- 'epilepsy, idiopathic generalized, susceptibility to, 8' SubClassOf 'predisposes towards' some 'generalised epilepsy' -+ 'epilepsy, idiopathic generalized, susceptibility to, 8' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'generalised epilepsy' - -Class: http://www.ebi.ac.uk/efo/EFO_1000800 -Label(s): alcohol withdrawal delirium -- 'alcohol withdrawal delirium' SubClassOf 'disease has major feature' some 'Delirium' -+ 'alcohol withdrawal delirium' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Delirium' - -Class: http://www.ebi.ac.uk/efo/EFO_1000727 -Label(s): lipodystrophy -- 'lipodystrophy' SubClassOf 'disease has major feature' some 'Lipodystrophy' -- 'lipodystrophy' EquivalentTo 'disease' and ('disease has major feature' some 'Lipodystrophy') -+ 'lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Lipodystrophy' -+ 'lipodystrophy' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Lipodystrophy') - -Class: http://purl.obolibrary.org/obo/BTO_0001516 -Label(s): BA/F3 cell -- 'BA/F3 cell' SubClassOf 'mouse cell line' -- 'BA/F3 cell' SubClassOf 'derives_from' some -('cell type' and ('part_of' some -(('developmental stage' or 'organism part') and ('part_of' some 'Mus')))) -- 'BA/F3 cell' SubClassOf 'derives_from' some 'BALB/c' -+ 'BA/F3 cell' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/MONDO_0020483 -Label(s): acetazolamide-responsive myotonia -- 'acetazolamide-responsive myotonia' EquivalentTo 'potassium-aggravated myotonia' and ('disease responds to' some 'acetazolamide') -- 'acetazolamide-responsive myotonia' SubClassOf 'disease responds to' some 'acetazolamide' -+ 'acetazolamide-responsive myotonia' EquivalentTo 'potassium-aggravated myotonia' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide') -+ 'acetazolamide-responsive myotonia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide' - -Class: http://purl.obolibrary.org/obo/MONDO_0011450 -Label(s): breast-ovarian cancer, familial, susceptibility to, 1 -- 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf 'predisposes towards' some 'hereditary breast ovarian cancer syndrome' -+ 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hereditary breast ovarian cancer syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0001221 -Label(s): NCI-H929 -- 'NCI-H929' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0015356 -Label(s): hereditary neoplastic syndrome -- 'hereditary neoplastic syndrome' SubClassOf 'predisposes towards' some 'neoplasm' -- 'hereditary neoplastic syndrome' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'neoplasm') -+ 'hereditary neoplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neoplasm' -+ 'hereditary neoplastic syndrome' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neoplasm') - -Class: http://www.ebi.ac.uk/efo/EFO_1000670 -Label(s): anhidrosis -- 'anhidrosis' SubClassOf 'disease has major feature' some 'Anhidrosis' -+ 'anhidrosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Anhidrosis' - -Class: http://www.ebi.ac.uk/efo/EFO_1000648 -Label(s): developmental dysplasia of the hip -- 'developmental dysplasia of the hip' SubClassOf 'disease has major feature' some 'Abnormal hip joint morphology' -+ 'developmental dysplasia of the hip' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal hip joint morphology' - -Class: http://www.ebi.ac.uk/efo/EFO_0002113 -Label(s): BDCM -- 'BDCM' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0002130 -Label(s): CESS -- 'CESS' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0020380 -Label(s): autosomal dominant cerebellar ataxia -- 'autosomal dominant cerebellar ataxia' SubClassOf 'disease has major feature' some 'dementia' -+ 'autosomal dominant cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' - -Class: http://purl.obolibrary.org/obo/CL_0002370 -Label(s): respiratory goblet cell -+ 'respiratory goblet cell' SubClassOf 'respiratory epithelial cell' - -Class: http://purl.obolibrary.org/obo/MONDO_0002839 -Label(s): leather-bottle stomach -- 'leather-bottle stomach' SubClassOf 'cancer-related condition' -- 'leather-bottle stomach' SubClassOf 'stomach disease' -- 'leather-bottle stomach' SubClassOf 'disease has location' some 'wall of stomach' - -Class: http://www.ebi.ac.uk/efo/EFO_0001189 -Label(s): HMEC S1 -- 'HMEC S1' SubClassOf 'Homo sapiens cell line' -- 'HMEC S1' SubClassOf 'mammary gland cell line' -- 'HMEC S1' SubClassOf 'bearer_of' some 'breast carcinoma' -- 'HMEC S1' SubClassOf 'epithelial cell derived cell line' -- 'HMEC S1' SubClassOf 'breast cancer cell line' -- 'HMEC S1' SubClassOf 'derives_from' some -('epithelial cell' and ('part_of' some -('mammary gland' and ('part_of' some 'Homo sapiens')))) -+ 'HMEC S1' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://www.ebi.ac.uk/efo/EFO_0001184 -Label(s): HEK293T -- 'HEK293T' SubClassOf 'kidney derived cell line' -- 'HEK293T' SubClassOf 'derives_from' some -('epithelial cell' and ('part_of' some -('kidney' and ('part_of' some 'organism')))) -- 'HEK293T' SubClassOf 'epithelial cell derived cell line' -+ 'HEK293T' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/MONDO_0014347 -Label(s): short stature with microcephaly and distinctive facies -+ 'short stature with microcephaly and distinctive facies' SubClassOf 'Rothmund-Thomson syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0015282 -Label(s): cardiomyopathy-cataract-hip spine disease syndrome -- 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'articular cartilage disorder' -- 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' -- 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'Cataract' -+ 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'articular cartilage disorder' -+ 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' -+ 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cataract' - -Class: http://www.ebi.ac.uk/efo/EFO_0006716 -Label(s): OPM-2 -- 'OPM-2' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006707 -Label(s): OCI-AML5 -- 'OCI-AML5' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006706 -Label(s): OCI-AML2 -- 'OCI-AML2' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0002218 -Label(s): KG1 -- 'KG1' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0002229 -Label(s): MCCAR -- 'MCCAR' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0020289 -Label(s): congenital tricuspid malformation -- 'congenital tricuspid malformation' SubClassOf 'disease has major feature' some 'Abnormal tricuspid valve morphology' -- 'congenital tricuspid malformation' EquivalentTo 'disease' and ('disease has major feature' some 'Abnormal tricuspid valve morphology') -+ 'congenital tricuspid malformation' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal tricuspid valve morphology' -+ 'congenital tricuspid malformation' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal tricuspid valve morphology') - -Class: http://purl.obolibrary.org/obo/MONDO_0020246 -Label(s): inherited vitreoretinopathy -- 'inherited vitreoretinopathy' EquivalentTo 'genetic disorder' and ('disease has major feature' some 'Vitreoretinopathy') -- 'inherited vitreoretinopathy' SubClassOf 'disease has major feature' some 'Vitreoretinopathy' -+ 'inherited vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Vitreoretinopathy' -+ 'inherited vitreoretinopathy' EquivalentTo 'genetic disorder' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Vitreoretinopathy') - -Class: http://purl.obolibrary.org/obo/MONDO_0020242 -Label(s): hereditary macular dystrophy -- 'hereditary macular dystrophy' SubClassOf 'disease has major feature' some 'Macular dystrophy' -- 'hereditary macular dystrophy' EquivalentTo 'inherited retinal dystrophy' and ('disease has major feature' some 'Macular dystrophy') -+ 'hereditary macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Macular dystrophy' -+ 'hereditary macular dystrophy' EquivalentTo 'inherited retinal dystrophy' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Macular dystrophy') - -Class: http://www.ebi.ac.uk/efo/EFO_0001082 -Label(s): 293T -+ '293T' SubClassOf 'epithelial cell derived cell line' -+ '293T' SubClassOf 'derives_from' some -('epithelial cell' and ('part_of' some -('kidney' and ('part_of' some 'organism')))) - -Class: http://purl.obolibrary.org/obo/MONDO_0015140 -Label(s): early-onset autosomal dominant Alzheimer disease -- 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'disease has major feature' some 'dementia' -+ 'early-onset autosomal dominant Alzheimer disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' - -Class: http://www.ebi.ac.uk/efo/EFO_0006654 -Label(s): MOLP-8 -- 'MOLP-8' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006653 -Label(s): MOLP-2 -- 'MOLP-2' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006645 -Label(s): ME-1 -- 'ME-1' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006619 -Label(s): KMS-34 -- 'KMS-34' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006618 -Label(s): KMS-28PE -- 'KMS-28PE' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006617 -Label(s): KMS-28BM -- 'KMS-28BM' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006616 -Label(s): KMS-27 -- 'KMS-27' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006609 -Label(s): KHM-1B -- 'KHM-1B' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006607 -Label(s): Kasumi-1 -- 'Kasumi-1' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0002313 -Label(s): PLB985 -- 'PLB985' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0002322 -Label(s): RPMI8226 -- 'RPMI8226' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_1000395 -Label(s): Nevus of Ito -- 'Nevus of Ito' SubClassOf 'disease shares features of' some 'Nevus of Ota' -+ 'Nevus of Ito' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Nevus of Ota' - -Class: http://www.ebi.ac.uk/efo/EFO_0006583 -Label(s): HNT-34 -- 'HNT-34' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006572 -Label(s): EJM -- 'EJM' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006530 -Label(s): 5T33MM -- '5T33MM' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0011817 -Label(s): coronary heart disease, susceptibility to, 1 -- 'coronary heart disease, susceptibility to, 1' SubClassOf 'predisposes towards' some 'coronary artery disease' -+ 'coronary heart disease, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0006615 -Label(s): KMS-26 -- 'KMS-26' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/CL_0002063 -Label(s): type II pneumocyte -- 'type II pneumocyte' SubClassOf 'epithelial cell' -+ 'type II pneumocyte' SubClassOf 'respiratory epithelial cell' - -Class: http://purl.obolibrary.org/obo/CL_0002062 -Label(s): type I pneumocyte -- 'type I pneumocyte' SubClassOf 'epithelial cell' -+ 'type I pneumocyte' SubClassOf 'respiratory epithelial cell' - -Class: http://purl.obolibrary.org/obo/MONDO_0011875 -Label(s): epilepsy, idiopathic generalized, susceptibility to, 11 -- 'epilepsy, idiopathic generalized, susceptibility to, 11' SubClassOf 'predisposes towards' some 'generalised epilepsy' -+ 'epilepsy, idiopathic generalized, susceptibility to, 11' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'generalised epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0043195 -Label(s): Rubinstein Taybi like syndrome -- 'Rubinstein Taybi like syndrome' SubClassOf 'disease shares features of' some 'Rubinstein-Taybi syndrome' -+ 'Rubinstein Taybi like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Rubinstein-Taybi syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0022372 -Label(s): ut7 cell -- 'ut7 cell' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006491 -Label(s): SR-786 -- 'SR-786' SubClassOf 'lymphoma or leukaemia cell line' -- 'SR-786' SubClassOf 'Homo sapiens cell line' -- 'SR-786' SubClassOf 'bearer_of' some 'lymphoma' -- 'SR-786' SubClassOf 'has quality' some 'male' -- 'SR-786' SubClassOf 'derives_from' some -('T cell' and ('part_of' some -('blood' and ('part_of' some 'Homo sapiens')))) -+ 'SR-786' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://www.ebi.ac.uk/efo/EFO_0006473 -Label(s): PL-21 -- 'PL-21' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0100232 -Label(s): psoriatic arthritis, susceptibility to -- 'psoriatic arthritis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'psoriatic arthritis') -- 'psoriatic arthritis, susceptibility to' SubClassOf 'predisposes towards' some 'psoriatic arthritis' -+ 'psoriatic arthritis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'psoriatic arthritis') -+ 'psoriatic arthritis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'psoriatic arthritis' - -Class: http://www.ebi.ac.uk/efo/EFO_0009071 -Label(s): malignant hyperthermia, susceptibility to, 1 -- 'malignant hyperthermia, susceptibility to, 1' SubClassOf 'predisposes towards' some 'malignant hyperthermia of anesthesia' -+ 'malignant hyperthermia, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malignant hyperthermia of anesthesia' - -Class: http://purl.obolibrary.org/obo/MONDO_0100242 -Label(s): glioma susceptibility -- 'glioma susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'malignant glioma') -- 'glioma susceptibility' SubClassOf 'predisposes towards' some 'malignant glioma' -+ 'glioma susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malignant glioma' -+ 'glioma susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malignant glioma') - -Class: http://purl.obolibrary.org/obo/MONDO_0010853 -Label(s): Helicobacter pylori infection, susceptibility to -- 'Helicobacter pylori infection, susceptibility to' SubClassOf 'predisposes towards' some 'Helicobacter pylori infectious disease' -+ 'Helicobacter pylori infection, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Helicobacter pylori infectious disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0024462 -Label(s): susceptibility to familial cutaneous melanoma -- 'susceptibility to familial cutaneous melanoma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'cutaneous melanoma') -- 'susceptibility to familial cutaneous melanoma' SubClassOf 'predisposes towards' some 'cutaneous melanoma' -+ 'susceptibility to familial cutaneous melanoma' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'cutaneous melanoma' -+ 'susceptibility to familial cutaneous melanoma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'cutaneous melanoma') - -Class: http://purl.obolibrary.org/obo/MONDO_0001328 -Label(s): thyroid hormone resistance syndrome -- 'thyroid hormone resistance syndrome' SubClassOf 'disease has major feature' some 'Abnormal thyroid-stimulating hormone level' -+ 'thyroid hormone resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal thyroid-stimulating hormone level' - -Class: http://purl.obolibrary.org/obo/MONDO_0007966 -Label(s): susceptibility to uveal melanoma -- 'susceptibility to uveal melanoma' SubClassOf 'predisposes towards' some 'Uveal Melanoma' -- 'susceptibility to uveal melanoma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Uveal Melanoma') -+ 'susceptibility to uveal melanoma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Uveal Melanoma') -+ 'susceptibility to uveal melanoma' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Uveal Melanoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0006293 -Label(s): SGC-7901 -- 'SGC-7901' SubClassOf 'cultured cell' -+ 'SGC-7901' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006289 -Label(s): OCI-AML3 -- 'OCI-AML3' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_0006287 -Label(s): Mono Mac 6 -- 'Mono Mac 6' SubClassOf 'cancer cell line' - -Class: http://www.ebi.ac.uk/efo/EFO_1000014 -Label(s): acidosis -- 'acidosis' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Acidosis') -- 'acidosis' SubClassOf 'disease has major feature' some 'Acidosis' -+ 'acidosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Acidosis' -+ 'acidosis' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Acidosis') - -Class: http://purl.obolibrary.org/obo/MONDO_0001437 -Label(s): pulmonary alveolar proteinosis -- 'pulmonary alveolar proteinosis' SubClassOf 'disease has major feature' some 'Intraalveolar phospholipid accumulation' -+ 'pulmonary alveolar proteinosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Intraalveolar phospholipid accumulation' - -Class: http://purl.obolibrary.org/obo/MONDO_0012953 -Label(s): colorectal cancer, susceptibility to, 10 -- 'colorectal cancer, susceptibility to, 10' SubClassOf 'predisposes towards' some 'colorectal cancer' -+ 'colorectal cancer, susceptibility to, 10' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'colorectal cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0012933 -Label(s): breast-ovarian cancer, familial, susceptibility to, 2 -- 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf 'predisposes towards' some 'hereditary breast ovarian cancer syndrome' -+ 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hereditary breast ovarian cancer syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0030434 -Label(s): epilepsy, idiopathic generalized, susceptibility to, 18 -- 'epilepsy, idiopathic generalized, susceptibility to, 18' SubClassOf 'predisposes towards' some 'generalised epilepsy' -+ 'epilepsy, idiopathic generalized, susceptibility to, 18' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'generalised epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0018307 -Label(s): neurodegeneration with brain iron accumulation -- 'neurodegeneration with brain iron accumulation' SubClassOf 'disease has major feature' some 'dementia' -+ 'neurodegeneration with brain iron accumulation' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' - -Class: http://www.ebi.ac.uk/efo/EFO_0006552 -Label(s): CMA-03 -- 'CMA-03' SubClassOf 'cancer cell line' - -Class: http://purl.obolibrary.org/obo/MONDO_0012893 -Label(s): osteoarthritis susceptibility 5 -- 'osteoarthritis susceptibility 5' SubClassOf 'predisposes towards' some 'osteoarthritis' -+ 'osteoarthritis susceptibility 5' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'osteoarthritis' - -Class: http://purl.obolibrary.org/obo/MONDO_0012843 -Label(s): epilepsy, childhood absence, susceptibility to, 5 -- 'epilepsy, childhood absence, susceptibility to, 5' SubClassOf 'predisposes towards' some 'childhood absence epilepsy' -+ 'epilepsy, childhood absence, susceptibility to, 5' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'childhood absence epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0100555 -Label(s): IgA nephropathy, susceptibility to -- 'IgA nephropathy, susceptibility to' SubClassOf 'predisposes towards' some 'IGA glomerulonephritis' -- 'IgA nephropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'IGA glomerulonephritis') -+ 'IgA nephropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'IGA glomerulonephritis') -+ 'IgA nephropathy, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'IGA glomerulonephritis' - -Class: http://purl.obolibrary.org/obo/MONDO_0001566 -Label(s): hypercalcemia disease -- 'hypercalcemia disease' SubClassOf 'disease has major feature' some 'Hypercalcemia' -+ 'hypercalcemia disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypercalcemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012820 -Label(s): colorectal cancer, susceptibility to, 3 -- 'colorectal cancer, susceptibility to, 3' SubClassOf 'predisposes towards' some 'colorectal cancer' -+ 'colorectal cancer, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'colorectal cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0958238 -Label(s): hyperemesis gravidarum, susceptibility to -- 'hyperemesis gravidarum, susceptibility to' SubClassOf 'predisposes towards' some 'hyperemesis gravidarum' -+ 'hyperemesis gravidarum, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hyperemesis gravidarum' - -Class: http://purl.obolibrary.org/obo/MONDO_0007704 -Label(s): osteoarthritis susceptibility 2 -- 'osteoarthritis susceptibility 2' SubClassOf 'predisposes towards' some 'osteoarthritis' -+ 'osteoarthritis susceptibility 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'osteoarthritis' - -Class: http://purl.obolibrary.org/obo/MONDO_0001627 -Label(s): dementia -- 'dementia' EquivalentTo 'cognitive disorder' and ('disease has major feature' some 'Dementia') -- 'dementia' SubClassOf 'disease has major feature' some 'Dementia' -+ 'dementia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dementia' -+ 'dementia' EquivalentTo 'cognitive disorder' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dementia') +Class: http://purl.obolibrary.org/obo/MONDO_0002009 +Label(s): major depressive disorder +- 'major depressive disorder' SubClassOf 'depressive disorder' ++ 'major depressive disorder' SubClassOf 'depressive disorder' + +Class: http://www.ebi.ac.uk/efo/EFO_0003761 +Label(s): unipolar depression +- 'unipolar depression' SubClassOf 'depressive disorder' ++ 'unipolar depression' SubClassOf http://www.w3.org/2002/07/owl#Thing + +Class: http://purl.obolibrary.org/obo/HP_0002514 +Label(s): Cerebral calcification +- 'Cerebral calcification' SubClassOf 'Abnormal brain morphology' ++ 'Cerebral calcification' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 + +Class: http://purl.obolibrary.org/obo/HP_0002500 +Label(s): Abnormal cerebral white matter morphology +- 'Abnormal cerebral white matter morphology' SubClassOf 'Abnormal brain morphology' ++ 'Abnormal cerebral white matter morphology' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 + +Class: http://purl.obolibrary.org/obo/HP_0002185 +Label(s): Neurofibrillary tangles +- 'Neurofibrillary tangles' SubClassOf 'Abnormal brain morphology' ++ 'Neurofibrillary tangles' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 + +Class: http://purl.obolibrary.org/obo/HP_0002140 +Label(s): Ischemic stroke ++ 'Ischemic stroke' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 + +Class: http://purl.obolibrary.org/obo/HP_0002134 +Label(s): Abnormal basal ganglia morphology +- 'Abnormal basal ganglia morphology' SubClassOf 'Abnormal brain morphology' ++ 'Abnormal basal ganglia morphology' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 + +Class: http://purl.obolibrary.org/obo/HP_0002123 +Label(s): Generalized myoclonic seizure +- 'Generalized myoclonic seizure' SubClassOf 'Seizure' ++ 'Generalized myoclonic seizure' SubClassOf http://purl.obolibrary.org/obo/HP_0002197 + +Class: http://purl.obolibrary.org/obo/HP_0002121 +Label(s): Generalized non-motor (absence) seizure +- 'Generalized non-motor (absence) seizure' SubClassOf 'Seizure' ++ 'Generalized non-motor (absence) seizure' SubClassOf http://purl.obolibrary.org/obo/HP_0002197 + +Class: http://purl.obolibrary.org/obo/HP_0002059 +Label(s): Cerebral atrophy ++ 'Cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 + +Class: http://purl.obolibrary.org/obo/HP_0007313 +Label(s): Cerebral degeneration ++ 'Cerebral degeneration' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 + +Class: http://purl.obolibrary.org/obo/MONDO_0009459 +Label(s): channelopathy-associated congenital insensitivity to pain, autosomal recessive ++ 'channelopathy-associated congenital insensitivity to pain, autosomal recessive' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022837 + +Class: http://purl.obolibrary.org/obo/HP_0000252 +Label(s): Microcephaly +- 'Microcephaly' SubClassOf 'Abnormal brain morphology' ++ 'Microcephaly' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 + +Class: http://purl.obolibrary.org/obo/HP_0009717 +Label(s): Cortical tubers +- 'Cortical tubers' SubClassOf 'Abnormal brain morphology' ++ 'Cortical tubers' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 + +Class: http://purl.obolibrary.org/obo/HP_0032059 +Label(s): Mild malformation of cortical development +- 'Mild malformation of cortical development' SubClassOf 'Abnormal brain morphology' ++ 'Mild malformation of cortical development' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 + +Class: http://www.ebi.ac.uk/efo/EFO_0006340 +Label(s): mean arterial pressure ++ 'mean arterial pressure' SubClassOf 'cardiovascular measurement' + +Class: http://purl.obolibrary.org/obo/HP_0006872 +Label(s): Cerebral hypoplasia +- 'Cerebral hypoplasia' SubClassOf 'Abnormal brain morphology' ++ 'Cerebral hypoplasia' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 + +Class: http://www.ebi.ac.uk/efo/EFO_0007453 +Label(s): postpartum depression +- 'postpartum depression' SubClassOf 'unipolar depression' ++ 'postpartum depression' SubClassOf 'major depressive disorder' + +Class: http://purl.obolibrary.org/obo/HP_0001331 +Label(s): Absent septum pellucidum +- 'Absent septum pellucidum' SubClassOf 'Abnormal brain morphology' ++ 'Absent septum pellucidum' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 + +Class: http://purl.obolibrary.org/obo/HP_0011170 +Label(s): Generalized myoclonic-atonic seizure +- 'Generalized myoclonic-atonic seizure' SubClassOf 'Seizure' ++ 'Generalized myoclonic-atonic seizure' SubClassOf http://purl.obolibrary.org/obo/HP_0002197 + +Class: http://purl.obolibrary.org/obo/MONDO_0013459 +Label(s): osteogenesis imperfecta type 10 ++ 'osteogenesis imperfecta type 10' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022836 + +Class: http://purl.obolibrary.org/obo/MONDO_0030714 +Label(s): osteogenesis imperfecta, IIA 22 ++ 'osteogenesis imperfecta, IIA 22' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022836 + +Class: http://www.ebi.ac.uk/efo/EFO_0009854 +Label(s): treatment resistant depression +- 'treatment resistant depression' SubClassOf 'unipolar depression' ++ 'treatment resistant depression' SubClassOf 'major depressive disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0013051 +Label(s): autosomal recessive cutis laxa type 2B ++ 'autosomal recessive cutis laxa type 2B' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022836 + +Class: http://purl.obolibrary.org/obo/MONDO_0018163 +Label(s): autosomal recessive cutis laxa type 2A ++ 'autosomal recessive cutis laxa type 2A' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022836 + +Class: http://www.ebi.ac.uk/efo/EFO_0009332 +Label(s): executive function measurement +- 'executive function measurement' SubClassOf 'is_about' some 'unipolar depression' ++ 'executive function measurement' SubClassOf 'is_about' some 'major depressive disorder' + +Class: http://www.ebi.ac.uk/efo/EFO_0700023 +Label(s): bleeding diathesis due to thromboxane synthesis deficiency +- 'bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited bleeding disorder, platelet-type' ++ 'bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited bleeding disorder, platelet-type' + +Class: http://purl.obolibrary.org/obo/HP_0007236 +Label(s): Recurrent subcortical infarcts +- 'Recurrent subcortical infarcts' SubClassOf 'Abnormal brain morphology' ++ 'Recurrent subcortical infarcts' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 + +Class: http://purl.obolibrary.org/obo/MONDO_0030861 +Label(s): osteogenesis imperfecta, type 21 ++ 'osteogenesis imperfecta, type 21' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022836 + +Class: http://purl.obolibrary.org/obo/HP_0002352 +Label(s): Leukoencephalopathy +- 'Leukoencephalopathy' SubClassOf 'Abnormal brain morphology' ++ 'Leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 + +Class: http://www.ebi.ac.uk/efo/EFO_0006335 +Label(s): systolic blood pressure ++ 'systolic blood pressure' SubClassOf 'cardiovascular measurement' + +Class: http://www.ebi.ac.uk/efo/EFO_0006336 +Label(s): diastolic blood pressure ++ 'diastolic blood pressure' SubClassOf 'cardiovascular measurement' + +Class: http://purl.obolibrary.org/obo/HP_0002536 +Label(s): Abnormal cortical gyration +- 'Abnormal cortical gyration' SubClassOf 'Abnormal brain morphology' ++ 'Abnormal cortical gyration' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 ---------------------------------- @@ -2256,15 +647,7 @@ Label(s): dementia @Classes deleted from this version -Class: http://purl.obolibrary.org/obo/MONDO_0000365 -Label(s): primary congenital glaucoma -+ 'primary congenital glaucoma' SubClassOf 'congenital glaucoma' -Class: http://purl.obolibrary.org/obo/MONDO_0002839 -Label(s): leather-bottle stomach -+ 'leather-bottle stomach' SubClassOf 'cancer-related condition' -+ 'leather-bottle stomach' SubClassOf 'stomach disease' -+ 'leather-bottle stomach' SubClassOf 'disease has location' some 'wall of stomach' ---------------------------------- 4. Scope of the Ontology diff --git a/efo-base.owl b/efo-base.owl index a554dda0..8af09f75 100644 --- a/efo-base.owl +++ b/efo-base.owl @@ -27,7 +27,7 @@ xmlns:patterns="http://www.co-ode.org/patterns#" xmlns:ncbitaxon="http://purl.obolibrary.org/obo/ncbitaxon#"> - + 1.4 Catherine Leroy Dani Welter @@ -52,8 +52,8 @@ Licensed under the Apache License, Version 2.0 (the "License"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an "AS IS" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. www.apache.org/licenses/LICENSE-2.0 - 2024-08-14 - 3.68.0 + 2024-08-15 + 3.69.0 diff --git a/src/ontology/reports/basic-report.tsv b/src/ontology/reports/basic-report.tsv index a507f6d3..98f67601 100644 --- a/src/ontology/reports/basic-report.tsv +++ b/src/ontology/reports/basic-report.tsv @@ -570,7 +570,7 @@ "A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." "ICD10:C16.1 ICD10:C16.4 DOID:5516 Orphanet:418959 GARD:21743 ICD10:C16.0 NCIT:C5475 UMLS:CN237470 ICD10:C16.5 ICD10:C16.8 MONDO:0006230 MEDGEN:234302 EFO:1000278 SCTID:766980008 ICD10:C16.3 UMLS:C1333789 ICD10:C16.2" "Sepsis associated with organ dysfunction distant from the site of infection." "ICD9:995.91 SNOMEDCT:91302008 NCIt:C3364 NCIt:C111915 MeSH:D018805" "MeSH:D046970 NCIt:C86271 SNOMEDCT:9766004" - "Cranial neural crest which gives rise to the trigeminal ganglion." "VHOG:0000269 EMAPA:16170 ZFA:0000080 EHDAA:667 TAO:0000080 EHDAA2:0002083 EFO:0003484" + "Cranial neural crest which gives rise to the trigeminal ganglion." "EFO:0003484 VHOG:0000269 EMAPA:16170 ZFA:0000080 EHDAA:667 TAO:0000080 EHDAA2:0002083" "The amount of a VIP36-like protein when measured in blood serum." "SNOMEDCT:61302002 NCIt:C77176" "Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid." "UMLS:C4023155" @@ -949,7 +949,7 @@ "Quantification of the amount of 11beta-hydroxyandrosterone glucuronide in a sample." "PMID:35347128" "A neoplasm (disease) that involves the ear." "UMLS:C0013449 MEDGEN:4431 NCIT:C3000" "SNOMEDCT:22937005 MeSH:D047010" - "A thienopyridine that is 4,5,6,7-tetrahydrothieno[3,2-c]pyridine in which the hydrogen attached to the nitrogen is replaced by an o-chlorobenzyl group." "SNOMEDCT:386950000 Patent:DE2404308 DrugBank:DB00208 ChemIDplus:55142-85-3 CAS:55142-85-3 PMID:19180126 KEGG:D08594 KEGG:C07140 NCIt:C61972 Drug_Central:2657 KEGG COMPOUND:C07140 MeSH:D013988 Patent:US4051141 SNOMEDCT:108971003 Reaxys:1216802 Wikipedia:Ticlopidine LINCS:LSM-1986 Patent:US4127580" + "A thienopyridine that is 4,5,6,7-tetrahydrothieno[3,2-c]pyridine in which the hydrogen attached to the nitrogen is replaced by an o-chlorobenzyl group." "Patent:US4127580 SNOMEDCT:386950000 Patent:DE2404308 DrugBank:DB00208 ChemIDplus:55142-85-3 CAS:55142-85-3 PMID:19180126 KEGG:D08594 KEGG:C07140 NCIt:C61972 Drug_Central:2657 KEGG COMPOUND:C07140 MeSH:D013988 Patent:US4051141 SNOMEDCT:108971003 Reaxys:1216802 Wikipedia:Ticlopidine LINCS:LSM-1986" "The amount of a large ribosomal subunit protein uL2m when measured in blood serum." "Quantification of the amount of X-17685 in a sample." "PMID:35347128" "The amount of a S-arrestin when measured in blood serum." @@ -1303,7 +1303,7 @@ "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." "NANDO:1201036 MESH:C537699 UMLS:C1855681 NANDO:2200140 DOID:0111112 NCIT:C74998 OMIM:256100 Orphanet:93592 MEDGEN:343406 SCTID:444830001 GARD:18645" "The determination of the amount of complement component C9 in a sample" "PMID:28240269" "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." "DOID:0060376 SCTID:721873007 MESH:C536531 Orphanet:2754 MEDGEN:411200 NCIT:C124841 GARD:4412 UMLS:C2745997 OMIM:277170" - "Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." "DOID:0050855 SNOMEDCT:197660000 MONDO:0000494 HP:0030760 SCTID:197660000 MEDGEN:508798 MP:0003985 PMID:16408108 UMLS:C0151650" + "Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." "DOID:0050855 SNOMEDCT:197660000 HP:0030760 MONDO:0000494 SCTID:197660000 MEDGEN:508798 MP:0003985 PMID:16408108 UMLS:C0151650" "Quantification of the amount of amphoterin-induced protein 2 measurement in a sample." "PMID:36168886" "quantification of the amount of [Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial in a sample" "A tuberculosis that involves the ureter." "ICD9:016.20 DOID:827 SCTID:81359005 UMLS:C0152800 ICD9:016.2 MEDGEN:509076" @@ -1360,7 +1360,7 @@ "MEDGEN:1842485 UMLS:C5679781 GARD:21046 Orphanet:276212" "CS57655 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158679&type=germplasm" "Quantification of the amount of 13-HODE + 9-HODE in a sample." "PMID:35347128" - "Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated as AS." "MeSH:D001024 DOID:1712 SNOMEDCT:420503003 NCIt:C64938 OMIM:109730 MedDRA:10002906 SNOMEDCT:60573004 NCIt:C50462" + "Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated as AS." "MeSH:D001024 SNOMEDCT:420503003 DOID:1712 NCIt:C64938 OMIM:109730 MedDRA:10002906 SNOMEDCT:60573004 NCIt:C50462" "Quantification of glycodeoxycholate levels in a sample." "PMID:23823483" "Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas." "MONDO:0006677 MEDGEN:2243 UMLS:C0005403 MeSH:D001655 MESH:D001655 DOID:12237" "The amount of a calcyphosin when measured in blood serum." @@ -2064,7 +2064,7 @@ "Quantification of arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 in a sample." "PMID:29875488" "Tracheal primordium that develops into the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut." "FBbt:00017003" - "The subthalamic nucleus is the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function[GO]." "MA:0000877 CALOHA:TS-1154 FMA:62035 EV:0100224 BAMS:SUB EMAPA:35839 HBA:4518 NCIT:C12454 GAID:655 UMLS:C0152355 Wikipedia:Subthalamic_nucleus NLXANAT:1010002 EFO:0001392 BM:Die-Sb BAMS:STh SCTID:361575000 neuronames:435 BAMS:STN BTO:0002252 MBA:470 DHBA:10466 MESH:D020531" + "The subthalamic nucleus is the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function[GO]." "CALOHA:TS-1154 MA:0000877 FMA:62035 EV:0100224 BAMS:SUB EMAPA:35839 HBA:4518 NCIT:C12454 GAID:655 UMLS:C0152355 Wikipedia:Subthalamic_nucleus NLXANAT:1010002 EFO:0001392 BM:Die-Sb BAMS:STh SCTID:361575000 neuronames:435 BAMS:STN BTO:0002252 MBA:470 DHBA:10466 MESH:D020531" "Quantification of the amount of valylphenylalanine in a sample." "PMID:35347128" "A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas." "ICD9:202.80 MEDGEN:44223 ICD10:C85.9 ONCOTREE:MLYM GARD:0011955 EFO:0000574 UMLS:C0024299 SCTID:118600007 MESH:D008223 Orphanet:223735 ICDO:9590/3 ICD9:200.0 SCTID:373168002 COHD:432571 NANDO:2100004 OMIM:605027 DOID:0060058 ICD9:200.1 MONDO:0005062 MedDRA:10025310 NCIT:C3208" @@ -2539,7 +2539,7 @@ "Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids." "GTR:AN0200342 SCTID:236381000 GTR:AN0096391 GTR:AN0255485 GTR:AN0096395 NCIT:C122798 MEDGEN:588369 UMLS:C0403397" "The amount of a oxysterol-binding protein-related protein 9 when measured in blood serum." "A steroid sulfate that is 17alpha-hydroxypregnenolone in which the hydroxy hydrogen at position 3 has been replaced by a sulfo group." "PMID:14264252 PMID:4054406 FooDB:FDB022032 PMID:17298837 PMID:26239050 PMID:34324429 PMID:14163950 PMID:12642469 PMID:12829005 PMID:4076471 PMID:3208699 LIPID_MAPS_instance:LMST05020021 Reaxys:5774387 HMDB:HMDB0000416 PMID:28472487 PMID:3260857 PMID:14625002 CAS:28901-70-4" - "a serious, potentially life-threatening cellulitis,or connective tissue infection, of the floor of the mouth, usually occurring in adults with concomitant dental infections and if left untreated, may obstruct the airways, necessitating tracheotomy." "MONDO:0006576 MEDGEN:44205 MESH:D008158 ICD9:528.3 DOID:4558 Wikipedia:Ludwig's_angina UMLS:C0024081 SCTID:196542004" + "a serious, potentially life-threatening cellulitis,or connective tissue infection, of the floor of the mouth, usually occurring in adults with concomitant dental infections and if left untreated, may obstruct the airways, necessitating tracheotomy." "MEDGEN:44205 MESH:D008158 ICD9:528.3 DOID:4558 Wikipedia:Ludwig's_angina UMLS:C0024081 SCTID:196542004 MONDO:0006576" "An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus." "MEDGEN:275556 DOID:5916 UMLS:C1519855 NCIT:C40170 DOID:5917" "A site from which a sample, i.e. a statistically representative of the whole, is extracted from the whole. e.g. a liver sample" @@ -3498,7 +3498,7 @@ "OMIM:310440 ICD10:G71.8" - "Initial section of the oviduct through which the ova pass from the ovary to the uterus." "CALOHA:TS-0732 EMAPA:35660 Wikipedia:Fallopian_tube EV:0100112 NCIT:C12403 MESH:D005187 MA:0000385 GAID:365 galen:FallopianTube SCTID:181463001 EHDAA2:0000504 UMLS:C0015560 FMA:18245" + "Initial section of the oviduct through which the ova pass from the ovary to the uterus." "CALOHA:TS-0732 FMA:18245 EMAPA:35660 Wikipedia:Fallopian_tube EV:0100112 NCIT:C12403 MESH:D005187 MA:0000385 GAID:365 galen:FallopianTube SCTID:181463001 EHDAA2:0000504 UMLS:C0015560" "A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." @@ -4017,7 +4017,7 @@ "An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei." "MEDGEN:688039 NCIT:C127907 ONCOTREE:ECAD UMLS:C1263762 SCTID:123842006 DOID:0050940" "OMIM:304400 ICD10:H90.8" - "The head of pancreas is a portion of the pancreas that is lodged within the curve of the duodenum, and is flattened anteriorly (from before). The other parts of the pancreas are the body and the tail. Its upper border is overlapped by the superior part of the duodenum and its lower overlaps the horizontal part; its right and left borders overlap in front, and insinuate themselves behind, the descending and ascending parts of the duodenum respectively. [WP,unvetted]." "FMA:10468 MA:0000122 SCTID:362201006 EMAPA:17507 VHOG:0000448 NCIT:C12269 UMLS:C0227579 EHDAA2:0001374 Wikipedia:Head_of_pancreas" + "The head of pancreas is a portion of the pancreas that is lodged within the curve of the duodenum, and is flattened anteriorly (from before). The other parts of the pancreas are the body and the tail. Its upper border is overlapped by the superior part of the duodenum and its lower overlaps the horizontal part; its right and left borders overlap in front, and insinuate themselves behind, the descending and ascending parts of the duodenum respectively. [WP,unvetted]." "FMA:10468 MA:0000122 SCTID:362201006 EMAPA:17507 NCIT:C12269 VHOG:0000448 UMLS:C0227579 EHDAA2:0001374 Wikipedia:Head_of_pancreas" "The amount of a transmembrane protein 59-like when measured in blood serum." "This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life." @@ -4758,7 +4758,7 @@ "Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration." "UMLS:C4025298" "Subdivision of the midbrain anterior to the midbrain tegmentum which contains darkly pigmented neurons." "BTO:0000143 MAT:0000504 EV:0100247 MA:0000210 FMA:67947" - "A 3-hydroxy steroid that is 17beta-estradiol in which the 7alpha hydrogen has been replaced by a nonyl group in which one of the hydrogens of the terminal methyl has been replaced by a (4,4,5,5,5-pentafluoropentyl)sulfinyl group. An estrogen receptor antagonist, it is used in the treatment of breast cancer." "Wikipedia:Fulvestrant KEGG:D01161 NCIt:C1379 PMID:18683044 MeSH:C070081 PMID:21699443 SNOMEDCT:404845006 CAS:129453-61-8 PMID:25720568 PMID:19369092 SNOMEDCT:385519002 LINCS:LSM-6504 PMID:21319872 Drug_Central:1255 DrugBank:DB00947" + "A 3-hydroxy steroid that is 17beta-estradiol in which the 7alpha hydrogen has been replaced by a nonyl group in which one of the hydrogens of the terminal methyl has been replaced by a (4,4,5,5,5-pentafluoropentyl)sulfinyl group. An estrogen receptor antagonist, it is used in the treatment of breast cancer." "Wikipedia:Fulvestrant KEGG:D01161 NCIt:C1379 PMID:18683044 MeSH:C070081 PMID:21699443 SNOMEDCT:404845006 SNOMEDCT:385519002 CAS:129453-61-8 PMID:25720568 PMID:19369092 LINCS:LSM-6504 PMID:21319872 Drug_Central:1255 DrugBank:DB00947" "Quantification of the amount of oxaloacetic acid in a sample." "PMID:35995766" "Familial esophageal achalasia is an inherited form of primary achalasia (see this term), a disorder of esophageal mobility, and is characterized by dysphagia due to the inability of the lower esophageal sphincter to relax." @@ -5804,7 +5804,7 @@ "GARD:18297 SCTID:720576001 Orphanet:178506 UMLS:C5436276 OMIM:618007 OMIM:613658 MEDGEN:1750003" "The amount of a smad5 when measured in blood serum." "Quantification of p53 and DNA damage-regulated protein 1 in a sample." "PMID:29875488" - "A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis." "DOID:0050855 SNOMEDCT:197660000 MONDO:0000494 HP:0030760 SCTID:197660000 MEDGEN:508798 MP:0003985 PMID:16408108 UMLS:C0151650" + "A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis." "DOID:0050855 SNOMEDCT:197660000 HP:0030760 MONDO:0000494 SCTID:197660000 MEDGEN:508798 MP:0003985 PMID:16408108 UMLS:C0151650" "The amount of a CDGSH iron-sulfur domain-containing protein 1 when measured in blood serum." "The amount of a plastin-1 when measured in blood serum." @@ -6003,7 +6003,7 @@ "ICD10:Q87.5 MeSH:C537493 UMLS:C1858084 OMIM:604841" - "A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene." "MedDRA:10024394 UMLS:C0022782 ICD10:N48.0 ICD9:607.0 MeSH:D052798 SCTID:3323003 MONDO:0006830 DOID:8738 MEDGEN:44036 SNOMEDCT:3323003 NCIT:C3151" + "A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene." "UMLS:C0022782 MedDRA:10024394 ICD10:N48.0 ICD9:607.0 MeSH:D052798 SCTID:3323003 MONDO:0006830 DOID:8738 MEDGEN:44036 SNOMEDCT:3323003 NCIT:C3151" "DOID:0070066 MEDGEN:899880 UMLS:C4225352 Orphanet:457284 OMIM:616362 GARD:17803" @@ -6572,7 +6572,7 @@ "X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." "ICD10:D64.0 OMIM:300751 MeSH:C536761" "UMLS:C5543538 MEDGEN:1781627 OMIM:619373" "Quantification of the amount of 11(12)-EET in a sample." "PMID:35995766" - "GARD:20372 MEDGEN:107510 MESH:D020967 MedDRA:10028658 UMLS:C0553604 Orphanet:206970" + "Orphanet:206970 GARD:20372 MEDGEN:107510 MESH:D020967 MedDRA:10028658 UMLS:C0553604" "A measure of the thickness of the ganglion cell inner plexiform layer (GCIPL). It is typically measured using optical imaging methods such as optical coherence tomography (OCT). The thickness of the ganglion cell complex (GCC), the collective name for the retinal nerve fibre layer and the ganglion cell inner plexiform layer, is one of the biomarkers used in the diagnosis of primary open angle glaucoma (POAG)." "PMID:33979322" "Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies." "DOID:10034 ICD9:367.5 UMLS:C0152198 SCTID:54552008 MEDGEN:508925" "ICD10:Q82.8" @@ -7543,7 +7543,7 @@ "OMIM:613076 ICD10:G71.3" "Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." "MEDGEN:66315 Orphanet:93296 UMLS:C0220685 GARD:8713 MESH:C536017 OMIM:200610 DOID:0080056 NANDO:2201345" "A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs." "GARD:17105 OMIM:612237 ONCOTREE:EMCHS NCIT:C27502 SCTID:404079008 MESH:C563195 MEDGEN:220892 DOID:6496 ICD9:171.9 UMLS:C1275278 Orphanet:209916" - "That portion of the spine comprising the cervical vertebrae. The neck area of the spine." "FMA:24138 EHDAA2:0000238 EMAPA:17215 BTO:0004148 MA:0003154 EHDAA:5051 NCIT:C69313 AAO:0000092 SCTID:260488005 UMLS:C0728985" + "That portion of the spine comprising the cervical vertebrae. The neck area of the spine." "EHDAA2:0000238 EMAPA:17215 BTO:0004148 MA:0003154 EHDAA:5051 NCIT:C69313 AAO:0000092 SCTID:260488005 UMLS:C0728985 FMA:24138" "Peripheral neuropathy affecting the sensory nerves." "UMLS:C0151313 SNOMEDCT_US:95662005" "Human acute myelomonocytic leukemia cell line with FLT3 ITD" "PMID:1568450 RRID:CVCL_A425" @@ -7990,7 +7990,7 @@ "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males." "UMLS:C0342474 SCTID:44231009 OMIM:201710 GARD:1465 Orphanet:90790 MEDGEN:83341" "Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen." "NANDO:2200672 MEDGEN:749036 OMIM:202400 UMLS:C2584774 GARD:5761 NORD:739 DOID:2236 SCTID:154818001 Orphanet:98880 NCIT:C98130 MESH:D000347" - "A diether consisting of pentane-1,5-diol in which both hydroxyl hydrogens have been replaced by 4-amidinophenyl groups. A trypanocidal drug that is used for treatment of cutaneous leishmaniasis and Chagas disease." "PMID:7690919 PMID:26903605 PMID:27600039 CiteXplore:15711592 PMID:28263303 PMID:27164533 PMID:10415905 PMID:27214074 Beilstein:3159790 PMID:26824946 ChEMBL:103965 SNOMEDCT:372699006 Patent:US2008214569 PDBeChem:PNT PMID:20144237 ChemIDplus:100-33-4 PMID:26648589 DrugBank:DB00738 PMID:11438428 PMID:26344166 CiteXplore:19966562 SNOMEDCT:31692006 PMID:26418240 CiteXplore:22327112 CiteXplore:14603035 PMID:26117647 PMID:27135970 Drug_Central:2090 PMID:26052915 NCIt:C731 PMID:15711592 PMID:27729250 PMID:26734860 PMID:22093811 PMID:27353022 Wikipedia:Pentamidine PMID:10917591 PMID:22046004 Patent:US7115665 CiteXplore:18971316 PMID:26938448 PMID:26606757 PMID:11584934 PMID:22327112 Patent:US2006235001 PMID:26882015 PMID:27297108 PMID:28074607 HMDB:HMDB0014876 KEGG COMPOUND:100-33-4 PMID:26431253 CiteXplore:22093811 PMID:28167598 KEGG:C07420 KEGG COMPOUND:C07420 PMID:22200378 PMID:27357655 PMID:26295040 Reaxys:3159790 KEGG:D08333 Patent:US2008167296 PMID:19966562 PMID:18346045 CiteXplore:22200378 Patent:EP975608 Patent:GB507565 PMID:26828608 PMID:26515653 CiteXplore:22046004 KEGG DRUG:D08333 PMID:7542607 PMID:20599360 ChemIDplus:3159790 PMID:8841838 PMID:27011917 PMID:14603035 Patent:US2394003 MeSH:D010419 CiteXplore:11438428 PMID:18971316 LINCS:LSM-4540 CAS:100-33-4" + "A diether consisting of pentane-1,5-diol in which both hydroxyl hydrogens have been replaced by 4-amidinophenyl groups. A trypanocidal drug that is used for treatment of cutaneous leishmaniasis and Chagas disease." "PMID:7690919 PMID:26903605 PMID:27600039 CiteXplore:15711592 PMID:28263303 PMID:27164533 PMID:10415905 PMID:27214074 Beilstein:3159790 PMID:26824946 ChEMBL:103965 SNOMEDCT:372699006 Patent:US2008214569 PDBeChem:PNT PMID:20144237 ChemIDplus:100-33-4 PMID:26648589 DrugBank:DB00738 PMID:11438428 PMID:26344166 CiteXplore:19966562 SNOMEDCT:31692006 PMID:26418240 CiteXplore:22327112 CiteXplore:14603035 PMID:26117647 PMID:27135970 Drug_Central:2090 PMID:26052915 NCIt:C731 PMID:15711592 PMID:27729250 PMID:26734860 PMID:22093811 PMID:27353022 Wikipedia:Pentamidine PMID:10917591 PMID:22046004 Patent:US7115665 CiteXplore:18971316 PMID:26938448 PMID:26606757 PMID:11584934 Patent:US2006235001 PMID:22327112 PMID:26882015 PMID:27297108 PMID:28074607 HMDB:HMDB0014876 KEGG COMPOUND:100-33-4 PMID:26431253 CiteXplore:22093811 PMID:28167598 KEGG:C07420 KEGG COMPOUND:C07420 PMID:22200378 PMID:27357655 PMID:26295040 Reaxys:3159790 KEGG:D08333 Patent:US2008167296 PMID:19966562 PMID:18346045 CiteXplore:22200378 Patent:EP975608 Patent:GB507565 PMID:26828608 PMID:26515653 CiteXplore:22046004 KEGG DRUG:D08333 PMID:7542607 PMID:20599360 ChemIDplus:3159790 PMID:8841838 PMID:27011917 PMID:14603035 Patent:US2394003 MeSH:D010419 CiteXplore:11438428 PMID:18971316 LINCS:LSM-4540 CAS:100-33-4" "The amount of a coxsackievirus and adenovirus receptor when measured in blood serum." "Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells." "EFO:1000953 UMLS:C0206722 MONDO:0006773 MESH:D018309 MEDGEN:104925" @@ -8193,7 +8193,7 @@ "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." "MEDGEN:337518 Orphanet:3322 MESH:C536068 UMLS:C1846142 SCTID:707276009 GARD:346" "A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex." "UMLS:C4020838 UMLS:C3150077" "Speech development, referring to the process of making sounds, that is absent or significantly behind developmental milestones." - "Any of the smallest blood vessels connecting arterioles with venules." "CALOHA:TS-2006 EV:0100035 EMAPA:35198 UMLS:C0935624 MA:0000065 BTO:0002045 FMA:63194 NCIT:C12685 MESH:D002196 AAO:0010252 XAO:0000116 EFO:0001906 Wikipedia:Capillary VHOG:0001253 NLXANAT:090902 TAO:0005250 ZFA:0005250" + "Any of the smallest blood vessels connecting arterioles with venules." "CALOHA:TS-2006 EV:0100035 EMAPA:35198 UMLS:C0935624 MA:0000065 BTO:0002045 NCIT:C12685 FMA:63194 MESH:D002196 AAO:0010252 XAO:0000116 EFO:0001906 Wikipedia:Capillary VHOG:0001253 NLXANAT:090902 TAO:0005250 ZFA:0005250" "A monocyte that responds rapidly to microbial stimuli by secreting cytokines and antimicrobial factors and which is characterized by high expression of CCR2 in both rodents and humans, negative for the lineage markers CD3, CD19, and CD20, and of larger size than non-classical monocytes." "The smallest division of the artery located between the muscular arteries and the capillaries[GO]." "FMA:63182 MESH:D001160 MA:0000063 ZFA:0005255 VHOG:0001763 TAO:0002138 UMLS:C0003847 Wikipedia:Arteriole NCIT:C12672 EMAPA:35146 SCTID:337724002 BTO:0001997 AAO:0010253" @@ -8944,7 +8944,7 @@ "Quantification of receptor-type tyrosine-protein phosphatase R in a sample." "PMID:29875488" "NCIt:C33346 FMA:61896" "Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal." "OMIM:269860 GARD:4832 Orphanet:93268 MESH:C537599 DOID:9249 SCTID:254052001 MEDGEN:96578 ICD9:756.9 UMLS:C0432198" - "A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." "MONDO:0006256 NCIT:C9245 UMLS:C0853879 ONCOTREE:BRCA EFO:1000307 MEDGEN:163435 SCTID:713609000" + "A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." "SCTID:713609000 MONDO:0006256 NCIT:C9245 UMLS:C0853879 ONCOTREE:BRCA EFO:1000307 MEDGEN:163435" "An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." "DOID:3605 MONDO:0002702 NCIT:C5228 UMLS:C1096638 MEDGEN:242756 EFO:1001962 SCTID:314191009" "CS57752 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158776&type=germplasm" "The amount of a dialkylglycerol when measured in blood serum." @@ -9453,7 +9453,7 @@ "Quantification of the amount of 1-palmitoyl-2-docosahexaenoyl-GPE (16:0/22:6) in a sample." "PMID:35347128" "The amount of a PTB-containing, cubilin and LRP1-interacting protein when measured in blood serum." "Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977." "GARD:18773 MESH:C535640 Orphanet:2487 MEDGEN:418952 UMLS:C2930962" - "A calcheamicin in which contains 3-O-methyl-alpha-L-rhamnosyl, 2,6-dideoxy-4-thio-beta-D-ribo-hexopyranosyl, and 4-amino-4,6-dideoxy-2-O-[2,4-dideoxy-4-(ethylamino)-3-O-methyl-alpha-L-threo-pentopyranosyl]-alpha-L-idopyranose units and in which the aromatic ring contains an iodo substituent." "CiteXplore:12606118 PMID:1584797 Reaxys:9894883 KEGG COMPOUND:108212-75-5 PMID:15099529 PMID:12606118 CiteXplore:2753814 MeSH:C055955 CAS:108212-75-5 CiteXplore:1584797 PMID:2753814 KEGG COMPOUND:C11469 ChemIDplus:108212-75-5 CiteXplore:15099529 KEGG:C11469" + "A calcheamicin in which contains 3-O-methyl-alpha-L-rhamnosyl, 2,6-dideoxy-4-thio-beta-D-ribo-hexopyranosyl, and 4-amino-4,6-dideoxy-2-O-[2,4-dideoxy-4-(ethylamino)-3-O-methyl-alpha-L-threo-pentopyranosyl]-alpha-L-idopyranose units and in which the aromatic ring contains an iodo substituent." "CiteXplore:12606118 PMID:1584797 Reaxys:9894883 KEGG COMPOUND:108212-75-5 PMID:15099529 CiteXplore:2753814 MeSH:C055955 PMID:12606118 CAS:108212-75-5 CiteXplore:1584797 PMID:2753814 KEGG COMPOUND:C11469 ChemIDplus:108212-75-5 CiteXplore:15099529 KEGG:C11469" "HpaII tiny fragment enrichment by ligation-mediated PCR (HELP-Seq)" "PMID:19386619" "A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)" "NCIT:C5649 UMLS:C1332137 MEDGEN:233130 DOID:6482" "The amount of a dual specificity tyrosine-phosphorylation-regulated kinase 1A when measured in blood serum." @@ -9585,7 +9585,7 @@ "Any measurable or observable characteristic related to the shape and structure of the crus helix, the continuation of the anteroinferior ascending helix, which extends in a posteroinferior direction into the cavity of the concha above the external auditory meatus. The average crus helix extends about one half to two thirds the distance across the concha. " "OMIM:612956 OMIM:603829 ICD10:I49.0" - "XPCS2BA; also has features of Cockayne syndrome; no evidence of malignancy; bilateral sensorineural hearing loss; dry skin; numerous freckles; hyperpigmented macules; broad-based choreoathetotic gait; brother of GM13025; donor subject is homozygous for a T>C transversion in the ERCC3 gene which results in a phenylalanine-99-to-serine missense mutation [PHE99SER (F99S)]." "RRID:CVCL_V272 CLO:0013998" + "XPCS2BA; also has features of Cockayne syndrome; no evidence of malignancy; bilateral sensorineural hearing loss; dry skin; numerous freckles; hyperpigmented macules; broad-based choreoathetotic gait; brother of GM13025; donor subject is homozygous for a T>C transversion in the ERCC3 gene which results in a phenylalanine-99-to-serine missense mutation [PHE99SER (F99S)]." "CLO:0013998 RRID:CVCL_V272" "Quantification of azothoate in blood plasma." "KEGG COMPOUND:C19020" "Quantification of the amount of 1-palmitoyl-2-alpha-linolenoyl-GPC (16:0/18:3n3) in a sample." "PMID:35347128" @@ -9658,7 +9658,7 @@ "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." "DOID:0060006 DOID:0090012 Orphanet:275 GARD:9987 UMLS:C1865370 OMIM:602450 MEDGEN:355454 SCTID:715982006" "Quantification of phosphatidylcholine diacyl C42:1 measurement in a sample." "PMID:26068415" - "The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient." "EV:0100391 CALOHA:TS-0860 ZFA:0005294 GAID:434 TAO:0005294 FMA:15628 BTO:0000761 Wikipedia:Collecting_tubule MESH:D007685 MA:0000371 SCTID:28202009 EMAPA:28407" + "The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient." "CALOHA:TS-0860 ZFA:0005294 GAID:434 TAO:0005294 FMA:15628 BTO:0000761 Wikipedia:Collecting_tubule MESH:D007685 MA:0000371 SCTID:28202009 EMAPA:28407 EV:0100391" "A benign or malignant neoplasm arising from the sweat glands." "MeSH:D013544 ICD9:239.2 MESH:D013544 ICDO:8400/1 DOID:2664 UMLS:C0038987 SCTID:126490003 MONDO:0002381 MEDGEN:21039 NCIT:C3398 NCIt:C3398 SNOMEDCT:126490003" "Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have a large spleen, and small kidneys. They have whitish skin. Like So-Eum, many of this type are skinny." "Wikipedia:Sasang_typology PMID:25888059" @@ -9808,7 +9808,7 @@ "Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "OMIM:609055 Orphanet:228357 MESH:C537953 GARD:6618 UMLS:C1836841 DOID:0110733 MEDGEN:332304" "Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream." "MedDRA:10066899 NCIt:C99537 NCIT:C99537 MEDGEN:348285 MONDO:0005399 ICD10:I74 ICD10:I82 UMLS:C1861172 MESH:D054556 MeSH:D054556" - "BTO:0003761 NCIt:C117176 RRID:CVCL_0535 CLO:0009093 MCC:0000434" + "BTO:0003761 RRID:CVCL_0535 CLO:0009093 MCC:0000434 NCIt:C117176" "An adenoid cystic carcinoma that affects the ethmoid sinus." "NCIT:C6238 MONDO:0006201 UMLS:C1333473 EFO:1000246 DOID:2764 MEDGEN:232471" "A triglyceride in which the three acyl groups contain a total of 50 carbons and 4 double bonds." "A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency." "MedDRA:10008927 DOID:1678 ICD9:595.1 MeSH:D018856 SNOMEDCT:197834003" @@ -10007,7 +10007,7 @@ "Frequency of chromatid-type chromosomal aberrations in human peripheral blood (typically resulting in damage to a single chromatid)." "PMID:30368896" "An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning." "MeSH:D001010 Wikipedia:Separation_anxiety_disorder MONDO:0001098 SCTID:11806006 MedDRA:10040045 MESH:D001010 UMLS:C1527281 NCIt:C35014 DOID:10685 UMLS:C0003477 MEDGEN:1999 NCIT:C35014" "An adenomyoma characterized by the presence of marked glandular architectural complexity." "MEDGEN:266248 NCIT:C6895 UMLS:C1300347 DOID:4993" - "Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS." "MeSH:D001024 DOID:1712 SNOMEDCT:420503003 NCIt:C64938 OMIM:109730 MedDRA:10002906 SNOMEDCT:60573004 NCIt:C50462" + "Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS." "MeSH:D001024 SNOMEDCT:420503003 DOID:1712 NCIt:C64938 OMIM:109730 MedDRA:10002906 SNOMEDCT:60573004 NCIt:C50462" "The amount of a fatty-acid amide hydrolase 2 when measured in blood serum." "Human fibroblast cell line" "RRID:CVCL_RW39" @@ -10433,7 +10433,7 @@ "An epithelium that is part of a nasopharynx [Automatically generated definition]." "VHOG:0001038 CALOHA:TS-0662 EMAPA:17672 BTO:0004480 MA:0001865 EHDAA2:0001241 NCIT:C49263 UMLS:C1179157 FMA:62452 EHDAA:7090" "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." "OMIM:300448 ICD10:D46.7 ICD10:D56.0" - "A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction." "UMLS:C0280328 SCTID:707427000 NCIT:C8188 DOID:3752 MEDGEN:76097" + "A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction." "MEDGEN:76097 UMLS:C0280328 SCTID:707427000 NCIT:C8188 DOID:3752" "quantification of the volume of white matter in an infant's brain" "PMID:28763065" "The amount of a protein FAM3C when measured in blood serum." @@ -12369,7 +12369,7 @@ "EV:0300051 MAT:0000402 XAO:1000010" "A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." "MEDGEN:233228 EFO:1000393 MONDO:0006316 NCIT:C6963 UMLS:C1334953" - "A subdivision of the pectoral complex consisting of the structures in the region of the shoulder joint (which connects the humerus, scapula and clavicle)." "EHDAA2:0001834 SCTID:361103004 EMAPA:17421 GAID:60 MA:0000038 NCIT:C25203 UMLS:C0037004 CALOHA:TS-2229 galen:Shoulder Wikipedia:Shoulder EHDAA:4180 FMA:25202 VHOG:0000342 MESH:D012782 EFO:0003068 EHDAA:6228" + "A subdivision of the pectoral complex consisting of the structures in the region of the shoulder joint (which connects the humerus, scapula and clavicle)." "SCTID:361103004 EMAPA:17421 GAID:60 MA:0000038 NCIT:C25203 UMLS:C0037004 CALOHA:TS-2229 galen:Shoulder Wikipedia:Shoulder EHDAA:4180 FMA:25202 VHOG:0000342 MESH:D012782 EFO:0003068 EHDAA:6228 EHDAA2:0001834" "UMLS:C3806467" "Inflammation of the DENTAL PULP, usually due to bacterial infection in dental caries, tooth fracture, or other conditions causing exposure of the pulp to bacterial invasion. Chemical irritants, thermal factors, hyperemic changes, and other factors may also cause pulpitis." "MESH:D011671 UMLS:C0034103 SNOMEDCT:32620007 ICD10CM:K04.0 MONDO:0006937 MEDGEN:19580 NCIt:C52595 MedDRA:10037463 ICD10:K04.0 SCTID:32620007 ICD9:522.0 MeSH:D011671 DOID:11121" "A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." "MONDO:0006401 UMLS:C1335894 MEDGEN:277627 NCIT:C35737 EFO:1000514" @@ -12476,7 +12476,7 @@ "Wikipedia:Aluminum_Hydroxide CAS:21645-51-2 Drug_Central:4250 Gmelin:22216 KEGG:C13391 KEGG:D02859" - "A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome." "SNOMEDCT:430725003 MONDO:0006894 UMLS:C0877149 MEDGEN:164080 SCTID:430725003 MESH:D046788 MeSH:D046788 MedDRA:10049143 DOID:14284" + "A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome." "SNOMEDCT:430725003 MONDO:0006894 UMLS:C0877149 MEDGEN:164080 SCTID:430725003 MeSH:D046788 MESH:D046788 MedDRA:10049143 DOID:14284" "A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies)." "GARD:4991 UMLS:C0432221 SCTID:254078005 MESH:C535793 DOID:0112297 Orphanet:93315 MEDGEN:98146 OMIM:184255" "The amount of a trinucleotide repeat-containing gene 6B protein when measured in blood serum." @@ -12664,7 +12664,7 @@ "Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain." "MeSH:D058256" "D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." "OMIMPS:600721 Orphanet:79315 UMLS:C1833429 SCTID:237960000 GARD:5661 DOID:0050575 MEDGEN:322192" "Nuclear complex containing subnuclei that give rise to the axons of the occulomotor nerve, both motor and parasympathetic fibers, situated at the midline at the level of the superior colliculus in the midbrain tegmentum (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533-534)." "EFO:0002468 MA:0001073 TAO:0000553 BM:MB-III EMAPA:35605 UMLS:C0228686 neuronames:492 EV:0100250 NCIT:C12897 MESH:D065838 SCTID:362457000 HBA:9030 MBA:35 DHBA:12198 Wikipedia:Nucleus_of_oculomotor_nerve BIRNLEX:1240 VHOG:0001389 ZFA:0000553 FMA:54510 XAO:0004389 BAMS:3 EHDAA2:0004211 BAMS:III" - "Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY." "MESH:D006962 MEDGEN:9368 NCIT:C113335 UMLS:C0020503 NCIt:C113335 SNOMEDCT:91478007 SCTID:91478007 MONDO:0006964 DOID:12466 HP:0000867 MedDRA:10020708 MeSH:D006962" + "Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY." "MESH:D006962 MEDGEN:9368 MedDRA:10020708 NCIT:C113335 UMLS:C0020503 NCIt:C113335 SNOMEDCT:91478007 SCTID:91478007 MONDO:0006964 DOID:12466 HP:0000867 MeSH:D006962" "Quantification of the volume of the frontal lobe of the brain." "PMID:31396565" "Infection of the larynx by Corynebacterium diphtheriae." "MEDGEN:4336 NCIT:C34546 ICD9:032.3 SCTID:50215002 UMLS:C0012557" @@ -13762,7 +13762,7 @@ "Quantification of the amount of X-12524 in a sample." "PMID:24816252" "UMLS:C3150412 MEDGEN:461762 DOID:0112378 OMIM:613151 GARD:18455" "A zone of skin that is part of a eyelid [Automatically generated definition]." "MA:0001256 FMA:24760 NCIT:C52718 UMLS:C0222088 SCTID:245947005 EMAPA:37536" - "A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO]." "BTO:0000752 MAT:0000443 CALOHA:TS-2102 VHOG:0001249 EFO:0000873 MA:0000138 SCTID:279089004 EMAPA:35532 XAO:0000375 FMA:30315 Wikipedia:Lymphatic_vessel AAO:0011005 MESH:D042601 UMLS:C0229889 NCIT:C33038" + "A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO]." "NCIT:C33038 BTO:0000752 MAT:0000443 CALOHA:TS-2102 VHOG:0001249 EFO:0000873 MA:0000138 SCTID:279089004 EMAPA:35532 XAO:0000375 FMA:30315 Wikipedia:Lymphatic_vessel AAO:0011005 MESH:D042601 UMLS:C0229889" "Quantification of the amount of P-selectin glycoprotein ligand 1 in a sample" "PMID:33067605" "Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations." "NANDO:1200812 DOID:3890 UMLS:C0162565 MESH:D017118 NORD:729 NANDO:2201263 SCTID:234422006 OMIM:176000 NCIT:C84536 Orphanet:79276 MEDGEN:56452 GARD:5732" "Quantification of carboxylic acid levels in a sample." "PMID:23823483" @@ -14725,7 +14725,7 @@ "Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal" "MONDO:0005471" "An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair." "OMIM:278720 SCTID:25784009 UMLS:C2752147 MEDGEN:416702 Orphanet:276255 GARD:5626 DOID:0110844 MESH:C567886 NCIT:C114770" - "Vein that carries blood away from the liver[ZFA]." "FMA:14337 galen:HepaticVein TAO:0000670 UMLS:C0019155 MA:0003015 Wikipedia:Hepatic_vein ZFA:0000670 EMAPA:19221 AAO:0010216 GAID:534 XAO:0000387 NCIT:C32736 MESH:D006503 SCTID:278191001" + "Vein that carries blood away from the liver[ZFA]." "FMA:14337 galen:HepaticVein UMLS:C0019155 TAO:0000670 MA:0003015 Wikipedia:Hepatic_vein ZFA:0000670 EMAPA:19221 AAO:0010216 GAID:534 XAO:0000387 NCIT:C32736 MESH:D006503 SCTID:278191001" "Quantification of dibromobisphenol A in blood plasma." "KEGG COMPOUND:C13622" "Any organ that is the primary organ of vocalization behavior. Examples: The laryngeal vocal cord (humans), the syrinx (birds)." "SNOMEDCT:272784002 SNOMEDCT:46293006 KEGG:D00780 NCIt:C317 Beilstein:6048116 NCIt:C51181 CAS:22260-51-1" @@ -14957,7 +14957,7 @@ "The amount of a far upstream element-binding protein 3 when measured in blood serum." "An inheritable form of hyperlipidemia, in which there are excess lipids in the blood." "OMIM:143890 SNOMEDCT:398036000 UMLS:C0020445 NANDO:2200602 MedDRA:10054380 MEDGEN:5688 MONDO:0005439 OMIM:144010 SCTID:190773008 NCIT:C34704 MeSH:D006938 DOID:13810 OMIM:603776 OMIMPS:143890 ICD9:V19.8" "OMIM:614199 ICD10:N04" - "The lobar bronchus is the major airway within the respiratory tree that starts by division of the principal bronchi on both sides and ends at the point of its own subdivision into tertiary or segmental bronchi[GO]." "SCTID:245509008 Wikipedia:Secondary_bronchus MA:0000437 EHDAA:8213 NCIT:C32998 EHDAA:8187 EMAPA:32696 UMLS:C0225653 EHDAA:8203 EHDAA:4993 FMA:7406 EHDAA:4985 EHDAA:4977 EHDAA:4955 EHDAA:4963 EHDAA:8175 EHDAA:8225" + "The lobar bronchus is the major airway within the respiratory tree that starts by division of the principal bronchi on both sides and ends at the point of its own subdivision into tertiary or segmental bronchi[GO]." "SCTID:245509008 Wikipedia:Secondary_bronchus MA:0000437 EHDAA:8213 NCIT:C32998 EHDAA:8187 EMAPA:32696 UMLS:C0225653 EHDAA:8203 EHDAA:4993 FMA:7406 EHDAA:4977 EHDAA:4985 EHDAA:4955 EHDAA:4963 EHDAA:8175 EHDAA:8225" "The result of a measurement of circulating antibodies specific to a hepatitis A virus antigen." "PMID:37164013" "GARD:11009 Orphanet:280586 OMIM:614078 MEDGEN:481387 DOID:0112224 UMLS:C3279757" "UMLS:C0596227" @@ -15623,7 +15623,7 @@ "MEDGEN:1673640 UMLS:C5193037 OMIM:618339" "Quantification of retinoblastoma-like protein 1 in a sample." "PMID:29875488" "MEDGEN:1673021 UMLS:C5191008 GARD:20947 Orphanet:268261" - "local accumulation of fluid, plasma proteins, and leukocytes in the vagina" "SNOMEDCT:30800001 ICD10:N76 MedDRA:10046916 NCIt:C26911 MP:0003541 MedDRA:10046950 MeSH:D014627 DOID:2170" + "local accumulation of fluid, plasma proteins, and leukocytes in the vagina" "SNOMEDCT:30800001 ICD10:N76 MedDRA:10046916 NCIt:C26911 MP:0003541 MedDRA:10046950 DOID:2170 MeSH:D014627" "Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." @@ -16259,7 +16259,7 @@ "quantification of some aspect of sleep quality, such as number of awakenings during a sleep interval or time taken to get to sleep. Sleep quality can be evaluated either through self-reporting, observation in a sleep lab or using a sleep monitoring device" "NCIt:C121705" "The amount of a membrane-associated progesterone receptor component 1 when measured in blood serum." "OMIM:173650" - "A malignant neoplasm involving the pancreas." "NCIT:C9005 OMIM:618680 ICD9:157.2 ICD9:157.0 ICD9:157.8 MONDO:0009831 ICD9:157.1 DOID:1793 NCIt:C9005" + "A malignant neoplasm involving the pancreas." "NCIT:C9005 OMIM:618680 ICD9:157.2 ICD9:157.0 ICD9:157.8 ICD9:157.1 MONDO:0009831 DOID:1793 NCIt:C9005" "Quantification of protocadherin beta-4 in a sample." "PMID:29875488" "An event that has caused the permanent cessation of all vital functions; the end of life. Can be applied to a whole organism or to a part of an organism." @@ -16372,7 +16372,7 @@ "The amount of a deubiquitinase MYSM1 when measured in blood serum." "The South Texas Assessment of Neurocognition (STAN) is a 90-min primarily computerized battery of standard and experimental neuropsychological tests. The STAN combines software developed for psychological experimentation (E-Prime) and database software (Microsoft ACCESS) with a user interface developed in visual basic to provide a fully automated testing environment which logs subject information, administers tests in a pre-defined order and databases subject performance at the completion of each test." "ICD10:D55.1" - "A cranial placode which, once specified, invaginates to form an otic cup, which eventually separates from the surface ectoderm to form the otic vesicle or otocyst, a rounded structure without appar- ent polarity. As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII[NBK]." "EHDAA2:0001339 TAO:0000138 AAO:0011079 ZFA:0000138 Wikipedia:Otic_placode FMA:293973 EMAPA:16195 NCIT:C34239 VHOG:0000235 XAO:0000223 EHDAA:506 EFO:0003429 UMLS:C1518677" + "A cranial placode which, once specified, invaginates to form an otic cup, which eventually separates from the surface ectoderm to form the otic vesicle or otocyst, a rounded structure without appar- ent polarity. As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII[NBK]." "EHDAA2:0001339 TAO:0000138 AAO:0011079 ZFA:0000138 Wikipedia:Otic_placode FMA:293973 EMAPA:16195 VHOG:0000235 NCIT:C34239 XAO:0000223 EHDAA:506 EFO:0003429 UMLS:C1518677" "A circulating gamma-delta T cell that expresses RORgamma(t), is CD27-negative and is capable of IL-17 secretion." "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" "An increased concentration of ammonia in the blood." "UMLS:C0220994 SNOMEDCT_US:9360008" @@ -17538,7 +17538,7 @@ "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." "OMIM:603511 ICD10:G71.0" "Quantification of cholesterol in small VLDL." "The amount of a serine/threonine-protein kinase N1 when measured in blood serum." - "A muscle in the forelimb stylopod which in humans has several functions, the most important being to rotate the forearm and to flex the elbow. [WP,unvetted]." "EHDAA:8279 Wikipedia:Biceps_brachii_muscle UMLS:C0559499 NCIT:C32200 EHDAA2:0000167 MA:0002269 EMAPA:19108 VHOG:0000861 FMA:37670 SCTID:265802004 BTO:0003419" + "A muscle in the forelimb stylopod which in humans has several functions, the most important being to rotate the forearm and to flex the elbow. [WP,unvetted]." "EHDAA:8279 Wikipedia:Biceps_brachii_muscle UMLS:C0559499 NCIT:C32200 MA:0002269 EHDAA2:0000167 EMAPA:19108 VHOG:0000861 FMA:37670 SCTID:265802004 BTO:0003419" "Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior." "UMLS:C4022592" "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene." "DOID:0111515 UMLS:C4225312 MEDGEN:901897 OMIM:616479 GARD:18450" "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12." "NCIT:C36410 Orphanet:316244 UMLS:C0795844 MESH:C538302 MESH:C538301 MEDGEN:208640 GARD:21404" @@ -19110,7 +19110,7 @@ "The amount of a protein FAM3A when measured in blood serum." "The amount of a E3 ubiquitin-protein ligase RNF146 when measured in blood serum." - "The thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone." "MA:0000118 Wikipedia:Adrenal_cortex VHOG:0001481 XAO:0000165 CALOHA:TS-0015 BTO:0000045 MESH:D000302 MAT:0000494 UMLS:C0001613 AAO:0011009 EV:0100136 SCTID:362584002 EMAPA:18427 NCIT:C12396 EFO:0000237 GAID:447 FMA:15632" + "The thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone." "MA:0000118 Wikipedia:Adrenal_cortex VHOG:0001481 XAO:0000165 CALOHA:TS-0015 BTO:0000045 MESH:D000302 MAT:0000494 UMLS:C0001613 AAO:0011009 EV:0100136 SCTID:362584002 EMAPA:18427 NCIT:C12396 EFO:0000237 FMA:15632 GAID:447" "Quantification of antibodies to the Epstein-Barr virus viral capsid antigen, typically in serum." "PMID:29868224" "A pervasive developmental disorder that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities." "OMIM:312750 MeSH:D015518 NIFSTD:birnlex_12770 DOID:1206 SNOMEDCT:68618008" @@ -19706,7 +19706,7 @@ "OMIM:618662" "Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." "OMIM:601472 ICD10:G60.0" - "A mucosa that is part of a tongue [Automatically generated definition]." "SCTID:362092002 EFO:0002553 FMA:54807" + "A mucosa that is part of a tongue [Automatically generated definition]." "EFO:0002553 SCTID:362092002 FMA:54807" "Quantification of succinate in a sample." "PMID:33283231" "Quantification of out at first protein homolog in a sample." "PMID:29875488" "A C4-dicarboxylate that is the E-isomer of but-2-enedioate(2-)" "PDBeChem:FUM DrugBank:DB01677 PMID:17190852 CAS:142-42-7 PMID:22052553 KEGG:C00122 PMID:22405071 Reaxys:1861276 PMID:16857679 PMID:15618158 UM-BBD_compID:c0111 MetaCyc:FUM Beilstein:1861276 Gmelin:325288" @@ -19972,7 +19972,7 @@ "An abnormality of the neck." "UMLS:C0266623 SNOMEDCT_US:298390003 UMLS:C4280628 SNOMEDCT_US:40052002 UMLS:C0575167" - "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma." "MONDO:0005087 ICD9:508.8 ICD9:508 ICD10:J98 ICD9:460-519.99 UMLS:C0035204 ICD9:519.1 ICD9:517 NCIt:C26871 ICD10:J99 ICD9:516.8 ICD10:J06 DOID:1579 ICD9:519.3 ICD9:510-519.99 SNOMEDCT:50043002 ICD9:V12.60 SCTID:50043002 ICD9:508.1 ICD10CM:J00-J99 MEDGEN:48421 ICD9:516.9 ICD10:J39 ICD9:517.8 NANDO:1100010 ICD10:J63 ICD9:519 NCIT:C26871 ICD9:519.8 MESH:D012140 ICD9:519.9 ICD9:503 ICD9:516 ICD9:V47.2 ICD9:508.9 ICD9:500-508.99 ICD10:J34" + "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma." "MONDO:0005087 ICD9:508.8 ICD9:508 ICD10:J98 ICD9:460-519.99 UMLS:C0035204 ICD9:519.1 ICD9:517 NCIt:C26871 ICD10:J99 ICD10:J06 ICD9:516.8 DOID:1579 ICD9:519.3 ICD9:510-519.99 SNOMEDCT:50043002 ICD9:V12.60 SCTID:50043002 ICD10CM:J00-J99 ICD9:508.1 MEDGEN:48421 ICD9:516.9 ICD10:J39 ICD9:517.8 NANDO:1100010 ICD10:J63 ICD9:519 NCIT:C26871 ICD9:519.8 MESH:D012140 ICD9:519.9 ICD9:503 ICD9:516 ICD9:V47.2 ICD9:508.9 ICD9:500-508.99 ICD10:J34" "Autosomal recessive form of spastic ataxia." "UMLS:C5679900 MEDGEN:1826141 GARD:21403 Orphanet:316240" "Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy." "CS57876 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158900&type=germplasm" @@ -20621,7 +20621,7 @@ "OBSOLETE. A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700)." "MeSH:D000375 OMIM:502000 SNOMEDCT:248280005 NCIt:C16269" "GARD:18402 OMIM:617576 MEDGEN:1617309 DOID:0070165 UMLS:C4539783" "Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved." "MESH:D015864 SNOMEDCT:75614007 Orphanet:280898 MeSH:D015864 MONDO:0017255 ICD9:360.12 HP:0012121 NCIt:C84989 DOID:12030 icd11.foundation:1125547814 MedDRA:10033687 MEDGEN:45303 SCTID:75614007 GARD:8577 NCIT:C84989 UMLS:C0030343" - "A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition." "SCTID:84209002 UMLS:C0236795 ICD10CM:F44.0 MEDGEN:66743 ICD9:300.12 DOID:11037 NCIT:C94328" + "A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition." "SCTID:84209002 ICD10CM:F44.0 UMLS:C0236795 MEDGEN:66743 ICD9:300.12 DOID:11037 NCIT:C94328" "A monocarboxylic acid amide consisting of L-valine in which the amino hydrogens have been replaced by a pentanoyl and a [2'-(1H-tetrazol-5-yl)biphenyl]-4-yl]methyl group. It exhibits antihypertensive activity." "DrugBank:DB00177 KEGG:D00400 CAS:137862-53-4 Wikipedia:Valsartan Patent:US5399578 LINCS:LSM-2993 Drug_Central:2806 Beilstein:7754038 HMDB:HMDB0014323 Reaxys:7754038 Patent:EP443983" "The outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells." "Wikipedia:Stratum_corneum NCIT:C33625 UMLS:C0221921 MA:0000804 FMA:67545 CALOHA:TS-0981 EMAPA:32787 SCTID:361695002 BTO:0000344 AAO:0010597" "quantification of the amount of granulins in a sample" @@ -21294,7 +21294,7 @@ "The amount of a phosphatidylcholine 14:0_16:0 when measured in blood serum." "OMIM:619736 MEDGEN:1809276 UMLS:C5676911 DOID:0081074" - "Inflammation of the myocardium in acute rheumatic heart disease." "NCIT:C35202 MEDGEN:56370 UMLS:C0155557 ICD9:391.9 SCTID:195136004 ICD9:398.0 DOID:8481" + "Inflammation of the myocardium in acute rheumatic heart disease." "DOID:8481 NCIT:C35202 MEDGEN:56370 UMLS:C0155557 ICD9:391.9 SCTID:195136004 ICD9:398.0" "Reduced likelihood of being infected by the hepatitis C virus despite exposure." "A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP)." "ICD9:275.49 MESH:D011556 Orphanet:79445 NCIT:C129722 Orphanet:665 SCTID:237659007 GARD:7860 OMIM:612463 DOID:4183 MEDGEN:10995 NANDO:2200348 UMLS:C0033835" "The amount of a SH3KBP1-binding protein 1 when measured in blood serum." @@ -21756,7 +21756,7 @@ "PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." "GARD:20649 MEDGEN:1842806 Orphanet:240112 UMLS:C5679850" "A bronchiolo-alveolar adenocarcinoma that is characterized by a tumor cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion." "MEDGEN:1627584 DOID:0080185 UMLS:C2200125" - "A system of fluid passages in the inner ear, including both the cochlea, which is part of the auditory system, and the vestibular system, which provides the sense of balance. The bony labyrinth, or osseous labyrinth, is the network of passages with bony walls lined with periosteum. The bony labyrinth is lined with the membranous labyrinth. There is a layer of perilymph between them. The three parts of the bony labyrinth are the vestibule of the ear, the semicircular canals, and the cochlea. The vestibular system is the region of the inner ear where the semicircular canals converge, close to the cochlea (the hearing organ). The vestibular system works with the visual system to keep objects in focus when the head is moving. Joint and muscle receptors also are important in maintaining balance. The brain receives, interprets, and processes the information from these systems that control our balance. [WP,unvetted]." "CALOHA:TS-2080 BTO:0004685 AAO:0011078 SCTID:279727008 VHOG:0001219 XAO:0000193 Wikipedia:Bony_labyrinth NCIT:C33227 EMAPA:36580 MA:0000238 EV:0100362 UMLS:C0458699 FMA:60179" + "A system of fluid passages in the inner ear, including both the cochlea, which is part of the auditory system, and the vestibular system, which provides the sense of balance. The bony labyrinth, or osseous labyrinth, is the network of passages with bony walls lined with periosteum. The bony labyrinth is lined with the membranous labyrinth. There is a layer of perilymph between them. The three parts of the bony labyrinth are the vestibule of the ear, the semicircular canals, and the cochlea. The vestibular system is the region of the inner ear where the semicircular canals converge, close to the cochlea (the hearing organ). The vestibular system works with the visual system to keep objects in focus when the head is moving. Joint and muscle receptors also are important in maintaining balance. The brain receives, interprets, and processes the information from these systems that control our balance. [WP,unvetted]." "CALOHA:TS-2080 BTO:0004685 AAO:0011078 SCTID:279727008 XAO:0000193 VHOG:0001219 Wikipedia:Bony_labyrinth NCIT:C33227 EMAPA:36580 MA:0000238 EV:0100362 UMLS:C0458699 FMA:60179" "A droplet-based microfluidic library construction platform based on inDrop that incorporates dual-indexing to detect index-hopping and standard Illumina sequencing primers for high-throughput sequencing." "The amount of a RWD domain-containing protein 1 when measured in blood serum." "An artemisinin derivative that is the hemisuccinate ester of the lactol resulting from the reduction of the lactone carbonyl group of artemisinin. It is used, generally as the sodium salt, for the treatment of malaria." "PMID:33792170 PMID:33814617 Wikipedia:Artesunate Chemspider:5293084 KEGG DRUG:D02482 PMID:33652561 Reaxys:6003212 HMDB:HMDB0240267 NCIt:C73005 KEGG DRUG:88495-63-0 PMID:30704910 KEGG:D02482 Drug_Central:247 PDBeChem:D95 ChemIDplus:182824-33-5 SNOMEDCT:432410005 NIST Chemistry WebBook:88495-63-0 CAS:88495-63-0 CAS:182824-33-5 MeSH:C039726 ChemIDplus:88495-63-0 DrugBank:DB09274 SNOMEDCT:432555000 PMID:26097885 PMID:33920029" @@ -21802,7 +21802,7 @@ "UMLS:C3553929 NCIT:C155752 OMIM:614859 DOID:0080478 GARD:15858 MEDGEN:766843 MESH:C566633" "Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy." "UMLS:C4518345 SCTID:734031008 ICD10CM:H47.4 MEDGEN:1392790 Orphanet:324353 GARD:21438" "A congenital malformation with a cleft (gap or opening) in the midline of the face." "UMLS:C4022007" - "A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" "NCIT:C9005 OMIM:618680 ICD9:157.2 ICD9:157.0 ICD9:157.8 MONDO:0009831 ICD9:157.1 DOID:1793 NCIt:C9005" + "A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" "NCIT:C9005 OMIM:618680 ICD9:157.2 ICD9:157.0 ICD9:157.8 ICD9:157.1 MONDO:0009831 DOID:1793 NCIt:C9005" "A wart in the plantar surface of the foot. It is caused by human papillomavirus." "SCTID:63440008 ICD10:B07.0 EFO:1002023 NCIT:C26913 ICD9:078.12 MONDO:0001795 DOID:13775 UMLS:C0042548 ICD10CM:B07.0 MEDGEN:53003 COHD:137785" "A carcinoma that arises from epithelial cells of the penis" "MEDGEN:208877 UMLS:C0853105 DOID:3449 EFO:1000465 NCIT:C9061 SCTID:372106005 GARD:0009366 MONDO:0006360" "An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease." "ICD9:569.49 MeSH:D011349 SNOMEDCT:3951002 NCIt:C38011 SCTID:3951002 MEDGEN:46113 DOID:3127 NCIT:C38011 MedDRA:10036774 UMLS:C0033246 MESH:D011349 MONDO:0005538" @@ -22235,7 +22235,7 @@ "A neuroblastoma arising from the retina." "NCIT:C6956 UMLS:C5779888 MEDGEN:1830429" "quantification of the amount of calcium/calmodulin-dependent protein kinase type 1D in a sample" - "Inflammation of renal tissue." "MedDRA:10029117 MESH:D009393 ICD9:583.7 NCIT:C26833 SCTID:52845002 MONDO:0001166 MEDGEN:14328 ICD9:583.9 UMLS:C0027697 DOID:10952 ICD10:N10 ICD10:N05 ICD9:583.89 ICD10:N12" + "Inflammation of renal tissue." "MedDRA:10029117 MESH:D009393 ICD9:583.7 SCTID:52845002 NCIT:C26833 MONDO:0001166 MEDGEN:14328 ICD9:583.9 UMLS:C0027697 DOID:10952 ICD10:N10 ICD10:N05 ICD9:583.89 ICD10:N12" "Clinically unaffected;has two FRDA alleles in the normal range of GAA trinucleotide repeats;brother of an affected individual (GM15850)." "https://catalog.coriell.org" @@ -23471,7 +23471,7 @@ "OBSOLETE. Autosomal recessive form of isolated diffuse palmoplantar keratoderma." "GARD:19450 Orphanet:98356" "Quantification of triglycerides in small HDL." - "The respiratory muscles that arise from the lower border of one rib and insert into the upper border of the adjoining rib." "MA:0003165 SCTID:181746004 BTO:0005281 MESH:D007366 Wikipedia:Intercostal_muscle FMA:13354 UMLS:C0021724 EFO:0001368 VHOG:0000903 EMAPA:18521 GAID:159 MA:0002324 EHDAA2:0000841 NCIT:C32824 EHDAA:5988" + "The respiratory muscles that arise from the lower border of one rib and insert into the upper border of the adjoining rib." "MA:0003165 SCTID:181746004 MESH:D007366 BTO:0005281 Wikipedia:Intercostal_muscle FMA:13354 EFO:0001368 UMLS:C0021724 VHOG:0000903 EMAPA:18521 GAID:159 MA:0002324 EHDAA2:0000841 NCIT:C32824 EHDAA:5988" "The amount of a (R)-oleoylcarnitine when measured in blood." "PMID:37253714" "The amount of a annexin A11 when measured in blood serum." @@ -23561,7 +23561,7 @@ "Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported." "Orphanet:96069 MEDGEN:1646544 GARD:19303 UMLS:C4707665 SCTID:766053003" "A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 2." "NCIt:C80509 SNOMEDCT:387050005 Wikipedia:Prostaglandin-endoperoxide_synthase_2 SNOMEDCT:123954005" - "A bone in the skull that separates the nasal cavity from the brain. As such, it is located at the roof of the nose, between the two orbits. The cubical bone is lightweight due to a spongy construction. The ethmoid bone is one of the bones that makes up the orbit of the eye[WP]." "UMLS:C0015027 NCIT:C12711 Wikipedia:Ethmoid_bone VHOG:0001317 MESH:D005004 FMA:52740 EMAPA:19018 SCTID:272674006 BTO:0004140 MA:0001483 GAID:212" + "A bone in the skull that separates the nasal cavity from the brain. As such, it is located at the roof of the nose, between the two orbits. The cubical bone is lightweight due to a spongy construction. The ethmoid bone is one of the bones that makes up the orbit of the eye[WP]." "NCIT:C12711 Wikipedia:Ethmoid_bone VHOG:0001317 MESH:D005004 FMA:52740 EMAPA:19018 SCTID:272674006 BTO:0004140 MA:0001483 GAID:212 UMLS:C0015027" "The determination of the amount of epiregulin in a sample" "PMID:28240269" @@ -23826,7 +23826,7 @@ "Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." "OMIM:617121 ICD10:H35.5 ICD10:Q04.3 OMIM:608629 OMIM:614424 OMIM:614464 OMIM:614970 OMIM:617562" "The amount of a ATP-binding cassette sub-family C member 6 when measured in blood serum." "ZFS:0000012" - "A sulfur-containing amino acid that is butyric acid bearing an amino substituent at position 2 and a methylthio substituent at position 4." "PMID:2543976 Beilstein:636185 CAS:59-51-8 SNOMEDCT:70288006 UM-BBD:c0094 NIST Chemistry WebBook:59-51-8 MeSH:D008715 KEGG DRUG:D04983 KEGG COMPOUND:C01733 KEGG:C01733 PMID:22264337 ChemIDplus:59-51-8 CiteXplore:16702333 Wikipedia:Methionine Gmelin:3117 UM-BBD_compID:c0094 Reaxys:636185 KEGG:D04983 PMID:16702333 NCIt:C29600" + "A sulfur-containing amino acid that is butyric acid bearing an amino substituent at position 2 and a methylthio substituent at position 4." "PMID:2543976 Beilstein:636185 CAS:59-51-8 UM-BBD:c0094 SNOMEDCT:70288006 NIST Chemistry WebBook:59-51-8 MeSH:D008715 KEGG DRUG:D04983 KEGG COMPOUND:C01733 KEGG:C01733 PMID:22264337 ChemIDplus:59-51-8 CiteXplore:16702333 Wikipedia:Methionine Gmelin:3117 UM-BBD_compID:c0094 Reaxys:636185 KEGG:D04983 PMID:16702333 NCIt:C29600" "Quantification of membrane protein FAM174A in a sample." "PMID:29875488" "UMLS:C1857333 OMIM:221740 MeSH:C538049" "NCIt:C72401" @@ -25842,7 +25842,7 @@ "McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." "OMIM:300842 MedDRA:10081507" "UMLS:C2874202 MEDGEN:1789612 OMIM:619613" "GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied." - "A disorder involving the attachment of a tendon or ligament to a bone [database_cross_reference: https://en.wikipedia.org/wiki/Enthesopathy]" "MEDGEN:66909 ICD10:M76 MONDO:0002183 ICD9:726.90 ICD10:M77 MedDRA:10014910 MESH:D012216 MESH:D000070676 UMLS:C0242490 DOID:204 ICD9:726.9 SCTID:23680005" + "A disorder involving the attachment of a tendon or ligament to a bone [database_cross_reference: https://en.wikipedia.org/wiki/Enthesopathy]" "ICD10:M76 MEDGEN:66909 MONDO:0002183 ICD9:726.90 ICD10:M77 MedDRA:10014910 MESH:D012216 MESH:D000070676 UMLS:C0242490 DOID:204 ICD9:726.9 SCTID:23680005" "Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." "OMIM:192315" "DOID:0112006 UMLS:C5436498 OMIM:618963 MEDGEN:1735911" "Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." "UMLS:C1867801 MEDGEN:401304 MESH:C538278 Orphanet:2957 SCTID:722452004 OMIM:176305 GARD:4470 DOID:0111544" @@ -26217,7 +26217,7 @@ "An organismal quality inhering in a bearer by virtue of the bearer's ability to undergo sexual reproduction in order to differentiate the individuals or types involved. [ MGED:MGED ]" "Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." "OMIM:271530 ICD10:Q76.3" "A neuron that is capable of some hormone secretion in response to neuronal signals." "NCIt:C12485 FMA:83810 BTO:0002691 ZFA:0009098 FBbt:00005130" - "Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM." "ICD9:093.1 MeSH:D013589 SNOMEDCT:20735004 MEDGEN:364 SCTID:20735004 ICD10CM:A52.02 MedDRA:10042900 DOID:11582 ICD10:A52.02 MONDO:0006992 UMLS:C0003511" + "Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM." "ICD9:093.1 MeSH:D013589 SNOMEDCT:20735004 MEDGEN:364 SCTID:20735004 ICD10CM:A52.02 MedDRA:10042900 DOID:11582 MONDO:0006992 ICD10:A52.02 UMLS:C0003511" "A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors." "MEDGEN:231438 NCIT:C5196 icd11.foundation:827143668 DOID:1631 ONCOTREE:BPT SCTID:720344007 Orphanet:180261 UMLS:C1332533 MedDRA:10011813" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of Par-4 dependent chemotherapy stimulus." "PMID:35322040" "Dental caries involving the tooth root, cementum, or cervical area of the tooth." "MEDGEN:57954 MONDO:0006957 MESH:D017213 SCTID:30512007 UMLS:C0162644 ICD9:521.08 MeSH:D017213 DOID:14089" @@ -26821,7 +26821,7 @@ "A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes." "SCTID:254693008 UMLS:C0346005 MONDO:0006907 EFO:1001107 DOID:4322 MedDRA:10059394 MEDGEN:83398 NCIT:C4468" "An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells." "NCIT:C6497 MONDO:0006480 UMLS:C1334180 DOID:6192 EFO:1000608 MEDGEN:235211" - "One of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord, that like it are derived from the medullary canal of the embryo, that are lined with an epithelial ependyma, and that contain a serous fluid." "neuronames:2497 HBA:9418 EFO:0001914 MESH:D002552 SCTID:180929003 MA:0000818 UMLS:C0007799 EMAPA:32674 BIRNLEX:1356 FMA:78447 BTO:0001442 NCIT:C12356" + "One of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord, that like it are derived from the medullary canal of the embryo, that are lined with an epithelial ependyma, and that contain a serous fluid." "neuronames:2497 HBA:9418 MESH:D002552 EFO:0001914 SCTID:180929003 MA:0000818 UMLS:C0007799 EMAPA:32674 BIRNLEX:1356 FMA:78447 BTO:0001442 NCIT:C12356" "An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." "ICD10:D01.4 Orphanet:104075 icd11.foundation:1369513329 SCTID:424440001 UMLS:C0278803 DOID:4906 MEDGEN:82984 GARD:19851 NCIT:C7888 GARD:0013090 EFO:1000532 MONDO:0003198" @@ -27198,7 +27198,7 @@ "A sarcoidosis that involves the nervous system." "UMLS:C0393485 MEDGEN:97948 MESH:C535814 SCTID:230193008" "This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." "MEDGEN:394424 GARD:10295 SCTID:723581006 UMLS:C2678045 MESH:C567475 DOID:0111931 OMIM:300707 Orphanet:140952" "A lesion in the skin and subcutaneous tissues due to infections by MYCOBACTERIUM ULCERANS. It was first reported in Uganda, Africa." "SNOMEDCT:15845006 MedDRA:10066290 NCIt:C84604 OMIM:610446 MeSH:D054312 DOID:0050456 ICD10:A31.1" - "A hemangioma arising from the subcutaneous soft tissues." "UMLS:C0685200 DOID:13081 MEDGEN:146343 http://www.uphs.upenn.edu/surgery/clinical/Plastic/hemangioma.html SCTID:93473009 EFO:1000707 NCIT:C8540 MONDO:0006557" + "A hemangioma arising from the subcutaneous soft tissues." "UMLS:C0685200 DOID:13081 MEDGEN:146343 http://www.uphs.upenn.edu/surgery/clinical/Plastic/hemangioma.html EFO:1000707 SCTID:93473009 NCIT:C8540 MONDO:0006557" "Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." "MONDO:0005175" "The amount of a guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 when measured in blood serum." @@ -28055,7 +28055,7 @@ "Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." "BTO:0000738 RRID:CVCL_0002 NCIt:C19433 CLO:0003775" "GARD:19606 DOID:0111720 UMLS:C0152454 MEDGEN:509041 Orphanet:98948" "A parasympathetic ganglion located in the posterior orbit that contains preganglionic nerves and postganglionic neurons of the oculomotor nerve, connects to the Edinger-Westphal nucleus via the oculomotor nerve and the eye muscles via the short ciliary nerve." "BAMS:GcIII VHOG:0000805 EHDAA2:0000251 Wikipedia:Ciliary_ganglion NLXANAT:100304 EMAPA:18222 EFO:0002559 EHDAA:5623 MA:0001136 SCTID:279281007 FMA:6964" - "A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome." "SNOMEDCT:430725003 MONDO:0006894 UMLS:C0877149 MEDGEN:164080 SCTID:430725003 MESH:D046788 MeSH:D046788 MedDRA:10049143 DOID:14284" + "A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome." "SNOMEDCT:430725003 MONDO:0006894 UMLS:C0877149 MEDGEN:164080 SCTID:430725003 MeSH:D046788 MESH:D046788 MedDRA:10049143 DOID:14284" "The amount of a EH domain-containing protein 3 when measured in blood serum." @@ -28552,7 +28552,7 @@ "Sense organ embedded in the integument and consisting of one or a cluster of sensory neurons and associated sensory structures, support cells and glial cells forming a single organised unit with a largely bona-fide boundary.[FBbt]." "TGMA:0000540 HAO:0000933 MIAA:0000163 Wikipedia:Sensillum BTO:0001237 MAT:0000163 FBbt:00007152 EFO:0000939" "The ability of a pathogen to produce an infectious disease or disorder in an organism." "MeSH:Q000472" - "A member of the class of amphetamines in which the amino group of (S)-amphetamine carries a methyl substituent." "PMID:11406298 PMID:26541330 PMID:18991860 Reaxys:2207147 PMID:18521756 PMID:25724762 PMID:19384581 KEGG COMPOUND:C07164 PMID:15542724 PMID:26775284 PMID:27232669 KEGG COMPOUND:537-46-2 PMID:15808793 ChemIDplus:537-46-2 PMID:26992824 PMID:19576287 CAS:537-46-2 PMID:11831503 NIST Chemistry WebBook:537-46-2 PMID:11711870 PMID:11717374 DrugBank:DB01577 PMID:11221576 PMID:18991862 PMID:11984857 PMID:11829406 MeSH:D008694 PMID:14645148 PMID:26568405 PMID:18509037 NCIt:C61840 KEGG:D08187 PMID:26302754 PMID:26683901 PMID:24349338 KEGG:C07164 PDBeChem:B40 PMID:15380623 PMID:11896153 PMID:15542728 PMID:19732271 SNOMEDCT:8692006 Beilstein:2207147 HMDB:HMDB0015517 SNOMEDCT:387499002 Drug_Central:1732 PMID:18279499 PMID:19269222 ChEMBL:775152 PMID:11847428 Wikipedia:Methamphetamine PMID:14769818" + "A member of the class of amphetamines in which the amino group of (S)-amphetamine carries a methyl substituent." "PMID:11406298 PMID:26541330 PMID:18991860 Reaxys:2207147 PMID:18521756 PMID:25724762 PMID:19384581 KEGG COMPOUND:C07164 PMID:15542724 PMID:26775284 PMID:27232669 KEGG COMPOUND:537-46-2 PMID:15808793 ChemIDplus:537-46-2 PMID:26992824 PMID:19576287 CAS:537-46-2 PMID:11831503 NIST Chemistry WebBook:537-46-2 PMID:11711870 PMID:11717374 PMID:11221576 DrugBank:DB01577 PMID:18991862 PMID:11984857 PMID:11829406 MeSH:D008694 PMID:14645148 PMID:26568405 PMID:18509037 NCIt:C61840 KEGG:D08187 PMID:26302754 PMID:26683901 PMID:24349338 KEGG:C07164 PDBeChem:B40 PMID:15380623 PMID:11896153 PMID:15542728 PMID:19732271 SNOMEDCT:8692006 Beilstein:2207147 HMDB:HMDB0015517 SNOMEDCT:387499002 Drug_Central:1732 PMID:18279499 PMID:19269222 ChEMBL:775152 PMID:11847428 Wikipedia:Methamphetamine PMID:14769818" "Pancolitis is a severe form of ulcerative colitis." "MEDGEN:1720692 UMLS:C0868908 MONDO:0005536 NANDO:1200450 MedDRA:10033573" "The amount of a synaptic vesicle glycoprotein 2A when measured in blood serum." "Narrowing of the urethra associated with inflammation or scar tissue." "UMLS:C0041974 SNOMEDCT_US:236647003 SNOMEDCT_US:76618002" @@ -29742,7 +29742,7 @@ "A glycerophosphocholine that is an alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 38 carbons and 2 double bonds." "DOID:0111343 Orphanet:2789 MEDGEN:342070 UMLS:C1851710 MESH:C537878 GARD:9873 OMIM:130720" "Quantification of translocon-associated protein subunit alpha in a sample." "PMID:29875488" - "An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." "EFO:1000578 DOID:7142 NCIT:C6460 MEDGEN:234784 MONDO:0004122 UMLS:C1335980" + "An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." "EFO:1000578 DOID:7142 NCIT:C6460 MEDGEN:234784 UMLS:C1335980 MONDO:0004122" "MEDGEN:462419 UMLS:C3151069 OMIM:613776 DOID:0060402" "The amount of a hematopoietically-expressed homeobox protein HHEX when measured in blood serum." "A ploidy quality inhering in a bearer by virtue of the bearer's containing more than two homologous sets of chromosomes." @@ -30037,7 +30037,7 @@ "A cyclic nonapeptide hormone with amino acid sequence CYIQNCPLG that also acts as a neurotransmitter in the brain; the principal uterine-contracting and milk-ejecting hormone of the posterior pituitary. Together with the neuropeptide vasopressin, it is believed to influence social cognition and behaviour." "PMID:11134819 PMID:19369205 DrugBank:DB00107 PMID:10027619 PMID:19104313 KEGG:D00089 Wikipedia:Oxytocin HMDB:HMDB0002865 Patent:US2938891 PMID:25209411 PMID:24706799 PMID:13305558 PMID:18593851 PMID:10949083 PMID:10949750 KEGG:C00746 Beilstein:3586108 Drug_Central:2042 CAS:50-56-6 Patent:US3076797 PMID:32509991 PMID:19482229 PMID:32683141 PMID:15815422 PMID:32979349 PMID:18988842 PMID:33192340 PMID:10834934 PMID:10983343" "NCIt:C117206" - "A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." "MONDO:0005087 ICD9:508.8 ICD9:508 ICD10:J98 ICD9:460-519.99 UMLS:C0035204 ICD9:519.1 ICD9:517 NCIt:C26871 ICD10:J99 ICD9:516.8 ICD10:J06 DOID:1579 ICD9:519.3 ICD9:510-519.99 SNOMEDCT:50043002 ICD9:V12.60 SCTID:50043002 ICD9:508.1 ICD10CM:J00-J99 MEDGEN:48421 ICD9:516.9 ICD10:J39 ICD9:517.8 NANDO:1100010 ICD10:J63 ICD9:519 NCIT:C26871 ICD9:519.8 MESH:D012140 ICD9:519.9 ICD9:503 ICD9:516 ICD9:V47.2 ICD9:508.9 ICD9:500-508.99 ICD10:J34" + "A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." "MONDO:0005087 ICD9:508.8 ICD9:508 ICD10:J98 ICD9:460-519.99 UMLS:C0035204 ICD9:519.1 ICD9:517 NCIt:C26871 ICD10:J99 ICD10:J06 ICD9:516.8 DOID:1579 ICD9:519.3 ICD9:510-519.99 SNOMEDCT:50043002 ICD9:V12.60 SCTID:50043002 ICD10CM:J00-J99 ICD9:508.1 MEDGEN:48421 ICD9:516.9 ICD10:J39 ICD9:517.8 NANDO:1100010 ICD10:J63 ICD9:519 NCIT:C26871 ICD9:519.8 MESH:D012140 ICD9:519.9 ICD9:503 ICD9:516 ICD9:V47.2 ICD9:508.9 ICD9:500-508.99 ICD10:J34" "UMLS:C0751490 OMIM:268800 ICD10:E75.0" "quantification of the amount of dihomo-gamma-linoleic acid in a sample" "Deficiency of the aminoacylase-1 enzyme" "SCTID:709282004 MESH:C538246 OMIM:609924 Orphanet:137754 MEDGEN:324393 UMLS:C1835922 GARD:9741 MeSH:C538246 MONDO:0012368 ICD9:270.8" @@ -30467,7 +30467,7 @@ "A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions." "MEDGEN:341729 GARD:3401 MESH:C565619 OMIM:223330 Orphanet:2464 UMLS:C1857227" "The amount of a osteocrin when measured in blood serum." "A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections." "NCIT:C4173 DOID:5446 MEDGEN:137747 UMLS:C0334350 SCTID:253021007 ICDO:8408/0" - "A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." "SCTID:62557001 Orphanet:71274 GARD:0012843 EFO:1000220 UMLS:C0267785 NCIT:C3958 GARD:12843 MEDGEN:78634 MONDO:0006183 DOID:5728 ICD10:D20.1" + "A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." "SCTID:62557001 Orphanet:71274 GARD:0012843 EFO:1000220 NCIT:C3958 UMLS:C0267785 GARD:12843 MEDGEN:78634 MONDO:0006183 DOID:5728 ICD10:D20.1" "OMIM:615327 MedDRA:10068651 OMIM:179850 OMIM:615696 OMIM:615674 ICD10:L81.8" "OMIM:610379 UMLS:C1835867 MEDGEN:372145" @@ -31019,7 +31019,7 @@ "The amount of a peptidyl-prolyl cis-trans isomerase FKBP3 when measured in blood serum." "Gaucher's disease" "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." "ICD10:M93.2 OMIM:165700" - "The major postaxial endochondral bone in the anterior zeugopod[Phenoscape]." "FMA:23466 SCTID:181948009 VSAO:0005013 UMLS:C0041600 GAID:188 AAO:0000789 EMAPA:19104 MESH:D014457 Wikipedia:Ulna MA:0001358 galen:Ulna NCIT:C12809" + "The major postaxial endochondral bone in the anterior zeugopod[Phenoscape]." "SCTID:181948009 FMA:23466 VSAO:0005013 UMLS:C0041600 GAID:188 AAO:0000789 EMAPA:19104 MESH:D014457 Wikipedia:Ulna MA:0001358 galen:Ulna NCIT:C12809" "A neoplasm (disease) that involves the gall bladder." "MONDO:0021253 MeSH:D005706 MESH:D005706 NCIT:C3048 MEDGEN:42134 UMLS:C0016978" @@ -31044,7 +31044,7 @@ "MESH:C565029 HP:0002219 OMIM:134000" "FMA:25202" "quantification of some aspect of cognitive decline such as the rate at which it occurs or its severity, for example in patients with dementia or Alzheimer's disease. Cognitive decline is ususally assessed using a structured-interview protocol covering a number of standardised areas." - "The inner layer of the trophoblast, interior to the syncytiotrophoblast in an embryo. It serves to anchor the embryonic chorion to the maternal endometrium. Cytotrophoblasts are stem cells in the chorionic villi. During differentiation, mononuclear cytotrophoblast fuse together into the multinucleated syncytiotrophoblasts. The primary villi has only the cytotrophoblast as an axe. [WP,unvetted]." "EHDAA:152 EHDAA:127 VHOG:0000683 EMAPA:16067 NCIT:C33919 EHDAA:89 UMLS:C0230960 Wikipedia:Cytotrophoblast SCTID:308841008 FMA:83039 BTO:0000322" + "The inner layer of the trophoblast, interior to the syncytiotrophoblast in an embryo. It serves to anchor the embryonic chorion to the maternal endometrium. Cytotrophoblasts are stem cells in the chorionic villi. During differentiation, mononuclear cytotrophoblast fuse together into the multinucleated syncytiotrophoblasts. The primary villi has only the cytotrophoblast as an axe. [WP,unvetted]." "EHDAA:127 EHDAA:152 VHOG:0000683 EMAPA:16067 NCIT:C33919 EHDAA:89 UMLS:C0230960 Wikipedia:Cytotrophoblast SCTID:308841008 FMA:83039 BTO:0000322" "Opportunistic fungal infection by a member of ALTERNARIA genus." "MeSH:D060487 SNOMEDCT:238426005" "An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium." "NCIT:C5462 UMLS:C1334238 DOID:7903 MEDGEN:232660" "A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable." "MEDGEN:232941 UMLS:C1321220 DOID:2996 NCIT:C5241" @@ -31082,7 +31082,7 @@ "Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene." "OMIM:616216 MEDGEN:863974 UMLS:C4015537" "Inflammation of the vulva. It is characterized by pruritus and painful urination." "DOID:3901 MONDO:0007018 MeSH:D014847 MEDGEN:22690 UMLS:C0042996 MESH:D014847 SCTID:63144007 MedDRA:10047780 SNOMEDCT:63144007" "A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma." "MEDGEN:140779 NCIT:C35442 UMLS:C0400923 DOID:272 ICD9:573.8 SCTID:235878005" - "A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder." "MEDGEN:46202 MONDO:0005085 ICD10:H11.009 ICD9:372.40 EFO:0000678 SCTID:77489003 DOID:0002116 MESH:D011625 ICD9:372.4 COHD:375552 UMLS:C0033999 ICD10:H11.00 NCIT:C133744 ICD10:H11.0 ICD10CM:H11.0" + "A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder." "MEDGEN:46202 MONDO:0005085 ICD10:H11.009 ICD9:372.40 EFO:0000678 SCTID:77489003 DOID:0002116 MESH:D011625 ICD9:372.4 UMLS:C0033999 COHD:375552 ICD10:H11.00 NCIT:C133744 ICD10:H11.0 ICD10CM:H11.0" "OMIM:302802 ICD10:G60.0" @@ -31531,7 +31531,7 @@ "ICD10:E88.1" "GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms." "Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported." "UMLS:C4706935 SCTID:764500002 Orphanet:96107 GARD:19321 MEDGEN:1636588" - "INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." "UMLS:C0030305 NCIT:C3306 SNOMEDCT:75694006 MONDO:0004982 MeSH:D010195 DOID:4989 SCTID:75694006 MEDGEN:14586 NCIt:C3306 MedDRA:10033645 MESH:D010195" + "INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." "UMLS:C0030305 NCIT:C3306 SNOMEDCT:75694006 MONDO:0004982 MeSH:D010195 DOID:4989 MEDGEN:14586 NCIt:C3306 MedDRA:10033645 SCTID:75694006 MESH:D010195" "Virus diseases caused by coronaviridae." "UMLS:C0010078 MEDGEN:40491 MeSH:D003333 DOID:2948 MONDO:0005718" "CLO:0009902 NCIt:C117169 BTO:0003772 RRID:CVCL_1689" "Quantification of killer cell immunoglobulin-like receptor 2DL5A in a sample." "PMID:29875488" @@ -31567,7 +31567,7 @@ "Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner." "UMLS:C1836474 Orphanet:284324 MEDGEN:324520 DOID:0080059 OMIM:609270 MESH:C563753 GARD:12232" "DOID:6582 NCIt:C6939 NCIt:C7689 NCIt:C5160 SNOMEDCT:35232005 NCIt:C7690" "Aplastic anemia without a known cause." "NCIT:C61230 SCTID:191256002 MESH:C538494 NANDO:1200296 NANDO:2201276 OMIM:609135 icd11.foundation:1615519452 UMLS:C0348890 MEDGEN:87595 ICD10CM:D61.3 Orphanet:88 GARD:5836 ICD10CM:D61.0" - "KEGG:D07967 PDBeChem:ZK5 Patent:GB792224 MeSH:D005438 Wikipedia:Fludrocortisone KEGG:C07004 SNOMEDCT:116586002 LIPID_MAPS_instance:LMST02030103 Beilstein:3014278 NCIt:C71629 CAS:127-31-1 DrugBank:DB00687 Patent:US2852511" + "KEGG:D07967 PDBeChem:ZK5 Patent:GB792224 MeSH:D005438 Wikipedia:Fludrocortisone KEGG:C07004 LIPID_MAPS_instance:LMST02030103 SNOMEDCT:116586002 Beilstein:3014278 NCIt:C71629 CAS:127-31-1 DrugBank:DB00687 Patent:US2852511" "An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs." "ICD9:270.2 SCTID:190694001 DOID:9275 UMLS:C0268483 MEDGEN:78682 NCIT:C98640 MESH:D020176 ICD10CM:E70.21 OMIMPS:276700" "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females." "UMLS:C0431648 Orphanet:247775 OMIM:277000 GARD:4737 MEDGEN:140915 ICD9:752.49 DOID:0112178" @@ -33022,7 +33022,7 @@ "The amount of a cathelicidin antimicrobial peptide when measured in blood serum." "The amount of a Fc receptor-like A when measured in blood serum." "A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia)" "MESH:D004314 NANDO:2200965 SNOMEDCT:41040004 UMLS:C0013080 DOID:14250 NCIt:C2993 MedDRA:10044688 NIFSTD:nlx_dys_20090502 MEDGEN:4385 OMIM:190685 MeSH:D004314 MONDO:0008608 NCIT:C2993 ICD9:758.0 SCTID:41040004 icd11.foundation:1624623908 Orphanet:870" - "A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]." "EFO:0003494 Wikipedia:Lens_placode UMLS:C1517770 EMAPA:16672 NCIT:C34202 XAO:0000240 FMA:296767 EHDAA:2908 AAO:0011055 EHDAA2:0000982 ZFA:0000122 VHOG:0000166 TAO:0000122" + "A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]." "Wikipedia:Lens_placode EFO:0003494 UMLS:C1517770 EMAPA:16672 NCIT:C34202 XAO:0000240 FMA:296767 EHDAA:2908 AAO:0011055 EHDAA2:0000982 ZFA:0000122 VHOG:0000166 TAO:0000122" "Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported." "DOID:0060817 MEDGEN:902184 GARD:17832 UMLS:C4225417 OMIM:300967 Orphanet:466791" "Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "MeSH:D014897 NCIt:C118847 OMIM:253400 ICD10:G12.1 SNOMEDCT:54280009 DOID:12376" "describes the procedure for dissection." @@ -33099,7 +33099,7 @@ "Quantification of the amount of X-24728 in a sample." "PMID:35347128" "A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement." - "Human T cell leukemia cell line, expresses relatively high levels of the larger PTPRC/CD45 isoforms relative to isoform CD45R0" "RRID:CVCL_XF44 PMID:10594010" + "Human T cell leukemia cell line, expresses relatively high levels of the larger PTPRC/CD45 isoforms relative to isoform CD45R0" "PMID:10594010 RRID:CVCL_XF44" "CS57549 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158573&type=germplasm" "A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)" "SNOMEDCT:87364003 MedDRA:10029260 NANDO:2200040 Orphanet:635 ONCOTREE:NBL NCIT:C3270 ICDO:9500/3 NCIt:C3270 OMIM:613014 MONDO:0005072 OMIM:613013 NIFSTD:birnlex_12631 MESH:D009447 UMLS:C0027819 MeSH:D009447 MEDGEN:18012 OMIM:256700 SCTID:432328008 GARD:7185 DOID:769 SNOMEDCT:432328008" "The determination of the number of eosinophilic myelocytes in a blood sample. [ NCI ]" "UMLS:C2827510 NCIt:C84821" @@ -33211,7 +33211,7 @@ "The post-cranial structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins." "TAO:0000317 EHDAA:5049 MA:0000308 NCIt:C32172 NCIt:C12998 SAEL:121 NIFSTD:sao1145756102 FMA:13478 AAO:0000034 MeSH:D013131 EMAPA:17214 ZFA:0000317" "The amount of a latexin when measured in blood serum." "Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation." "SCTID:765197008 Orphanet:206546 UMLS:C4707359 GARD:20350 MEDGEN:1631985" - "Overproduction of parathyroid hormone in response to influence external to the parathyroid glands." "MESH:D006962 MEDGEN:9368 NCIT:C113335 UMLS:C0020503 NCIt:C113335 SNOMEDCT:91478007 SCTID:91478007 MONDO:0006964 DOID:12466 HP:0000867 MedDRA:10020708 MeSH:D006962" + "Overproduction of parathyroid hormone in response to influence external to the parathyroid glands." "MESH:D006962 MEDGEN:9368 MedDRA:10020708 NCIT:C113335 UMLS:C0020503 NCIt:C113335 SNOMEDCT:91478007 SCTID:91478007 MONDO:0006964 DOID:12466 HP:0000867 MeSH:D006962" "A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface." "NCIT:C101201 Orphanet:268744 NANDO:2200814 NANDO:2100215 NANDO:1200509 GARD:20958 icd11.foundation:979482551 UMLS:C0037917 MEDGEN:21277 MESH:D016137 MedDRA:10071011" "SNOMEDCT:33436009 MeSH:D060054 NCIt:C86011" "Lateral line sensory nucleus located in the cerebellum that processes sensory input from the lateral line." "ZFA:0000291" @@ -33364,7 +33364,7 @@ "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center." "MedDRA:10027807 MONDO:0005855 DOID:8867 SCTID:40070004 MeSH:D008976 ICD9:078.0 MEDGEN:10081 UMLS:C0026393 MESH:D008976 ICD10CM:B08.1" "ZFA:0001214" "X-linked Mental retardation Cantagrel type is characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism." "DOID:0112044 Orphanet:85277 SCTID:719016007 UMLS:C3806730 OMIM:300912 MEDGEN:813060 GARD:16743" - "A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." "MONDO:0003264 SCTID:254702000 DOID:5063 NCIT:C2922 ICDO:8094/3 MESH:D002281 UMLS:C0007118 MEDGEN:2841 EFO:1000529" + "A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." "MONDO:0003264 SCTID:254702000 NCIT:C2922 DOID:5063 ICDO:8094/3 MESH:D002281 UMLS:C0007118 MEDGEN:2841 EFO:1000529" "A small, pear-shaped muscular sac, located under the right lobe of the liver, in which bile secreted by the liver is stored until needed by the body for digestion." "EHDAA:8062 ZFA:0000208 SAEL:44 EMAPA:17202 MFO:0003020 FMA:7202 TAO:0000208 BTO:0000493 MAT:0000072 MA:000356 XAO:0000135 EV:0100090" "The probe which is used in an assay such as an array for detecting sequence or gene expression levels." "Increased count of eosinophils in the blood." "UMLS:C0014457" @@ -33559,7 +33559,7 @@ "An unusual form of phenotypic type 1 diabetes with almost complete insulin deficiency, a strong hereditary component, and no evidence of autoimmunity." "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45." "UMLS:C1867743" "Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A." "GARD:10430 SCTID:230437002 NCIT:C116573 MEDGEN:148243 NANDO:2200877 NANDO:1200587 DOID:0080422 NORD:1061 UMLS:C0751122 ICD9:345.10 DOID:0060171" - "The monohydrate of (+)-catechin." "Chemspider:97077 PMID:24048981 PMID:32613640 PMID:10651166 PMID:29458270 CiteXplore:10651166 \"PubMed citation\" PMID:19501612 CAS:88191-48-4 PMID:25218093 ChemIDplus:88191-48-4 \"CAS Registry Number\" PMID:29604256 PMID:24825545 PMID:26653744 PMID:24266106" + "The monohydrate of (+)-catechin." "Chemspider:97077 PMID:24048981 PMID:32613640 PMID:10651166 PMID:29458270 CiteXplore:10651166 \"PubMed citation\" PMID:19501612 CAS:88191-48-4 PMID:25218093 ChemIDplus:88191-48-4 \"CAS Registry Number\" PMID:29604256 PMID:24825545 PMID:24266106 PMID:26653744" "Primordium of a single tracheal metamere of the embryonic/larval tracheal system from its appearance as a placode during stage 11 to the completion of fusion with adjacent tracheal metameres in stage 15/16. There are 10 pairs of tracheal primordia - one pair in each segment from T2 to A8. Each tracheal primordium originates as a slight depression in the lateral ectoderm during stage 10 known as a tracheal placode. During stage 11, these placodes invaginate to form tracheal pits that elongate and branch. These pits close over during stage 13. Fusion of tracheal primordia begins at stage 14 with fusion of the dorsal trunk primordia and is complete by early stage 16." "FBbt:00005037" "Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." "MeSH:C536605 ICD10:Q84.2 OMIM:145701" "A hydroxycoumarin that is coumarin in which the hydrogen at position 4 is replaced by a hydroxy group." "Reaxys:129768 PMID:18007464 CAS:1076-38-6 PDBeChem:4HC MetaCyc:CPD-12111 PMID:19757094" @@ -33606,7 +33606,7 @@ "The result of a measurement of circulating antibodies specific to a respiratory syncytial virus antigen." "PMID:37164013" "An artery of the systemic circulation, which is the part of the cardiovascular system which carries oxygenated blood away from the heart, to the body, and returns deoxygenated blood back to the heart." "Wikipedia:Artery#Systemic_arteries FMA:66464 EMAPA:37126" "Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." "SCTID:724070005 UMLS:C4510306 Orphanet:261304 GARD:20777 MEDGEN:1390091" - "A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid." "MEDGEN:869 MedDRA:10027134 ICD10CM:H00.1 MONDO:0005844 ICD9:373.2 SCTID:1482004 UMLS:C0007933 NCIT:C26717 MeSH:D017043 MESH:D017043 DOID:9903" + "A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid." "MedDRA:10027134 ICD10CM:H00.1 MONDO:0005844 ICD9:373.2 SCTID:1482004 UMLS:C0007933 NCIT:C26717 MeSH:D017043 MESH:D017043 DOID:9903 MEDGEN:869" "ICD10:N46" "A sphingomyelin d18:1 in which the fatty acyl group contains 16 carbons and 1 double bond" @@ -33757,7 +33757,7 @@ "The chemical reactions and pathways involving a protein. Includes protein modification." "Wikipedia:Protein_metabolism" - "A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy." "MeSH:C565768 MONDO:0013681 UMLS:C3280428 GARD:15787 SCTID:700463002 NCIT:C119677 MESH:C565768 DOID:0060602 MEDGEN:482058 NCIt:C119677 NANDO:1200768 OMIM:614307" + "A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy." "MeSH:C565768 MONDO:0013681 UMLS:C3280428 GARD:15787 SCTID:700463002 NCIT:C119677 DOID:0060602 MESH:C565768 MEDGEN:482058 NCIt:C119677 NANDO:1200768 OMIM:614307" "OMIM:613328 ICD10:Q87.8" "The determination of the amount of 4-oxo-retinoic acid in a blood sample" "PubChem:6437063 CAS:38030-57-8" "UMLS:C1850778 MEDGEN:342587" @@ -33817,7 +33817,7 @@ "3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria." "Orphanet:67047 OMIM:258501 DOID:0110004 UMLS:C0574084 NANDO:1200992 SCTID:297232009 MESH:C535311 MEDGEN:108273 GARD:5663" - "A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." "EFO:1000471 MONDO:0006366 UMLS:C1335398 MEDGEN:233323 NCIT:C36205" + "A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." "EFO:1000471 MONDO:0006366 UMLS:C1335398 NCIT:C36205 MEDGEN:233323" "Quantification of the amount of X-17361 in a sample." "PMID:35347128" "Any process that modulates the frequency, rate or extent of a muscle system process, a multicellular organismal process carried out by any of the organs or tissues in a muscle system." "A dipeptide formed from L-leucine and L-serine residues." "HMDB:HMDB0028938 Reaxys:1727668" @@ -33919,7 +33919,7 @@ "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis." "DC:0000445 ICD10:M11.2 GARD:0010877 MedDRA:10059364 Orphanet:53715" "Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles." "SNOMEDCT_US:270492004 UMLS:C0085614" "An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." "SCTID:31712002 NANDO:1200439 ICD9:571.6 NCIT:C27167 MEDGEN:3035 UMLS:C0008312 GARD:7459 Orphanet:186 DOID:12236 SNOMEDCT:31712002 MedDRA:10019137 ICD10:K74.3 OMIMPS:109720 NCIt:C27167 MESH:D008105 MONDO:0005388 NORD:1604 MedDRA:10004661 icd11.foundation:649193479 MedDRA:10036680" - "An epithelial tube that is part of the nephron, the functional part of the kidney." "NCIT:C49274 CALOHA:TS-1262 FMA:15627 TAO:0001287 EMAPA:27782 UMLS:C0022674 EV:0100387 MA:0000377 MESH:D007684 GAID:433 ZFA:0001287 BTO:0000343 Wikipedia:Renal_tubule SCTID:361332007 EFO:0003666" + "An epithelial tube that is part of the nephron, the functional part of the kidney." "NCIT:C49274 CALOHA:TS-1262 FMA:15627 TAO:0001287 EMAPA:27782 UMLS:C0022674 EV:0100387 MESH:D007684 MA:0000377 GAID:433 ZFA:0001287 BTO:0000343 Wikipedia:Renal_tubule SCTID:361332007 EFO:0003666" "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA48 is an autosomal dominant neurodegenerative disease characterized by onset in mid-adulthood of progressive cognitive decline and gait ataxia, and vermian and hemispheric cerebellar atrophy." "OMIM:618093" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a combination of chemotherapeutic agents. Chemotherapeutic drugs are often administered in combination in order to maximise treatment effect." @@ -34167,7 +34167,7 @@ "Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease." "MEDGEN:3622 DOID:3362 MONDO:0006714 HP:0030882 SCTID:50570003 ICD9:414.11 MedDRA:10002348 MeSH:D003323 ICD10:I25.4 SNOMEDCT:50570003 MESH:D003323 UMLS:C0010051" "Orphanet:447977 OMIM:616852 GARD:17779 MEDGEN:905125 UMLS:C4225181" - "Orphanet:500180 DOID:0070474 OMIM:617672 MEDGEN:1626007 UMLS:C4540086 GARD:13658" + "Orphanet:500180 DOID:0070474 OMIM:617672 MEDGEN:1626007 GARD:13658 UMLS:C4540086" "Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys." "GARD:1163 MESH:C537713 Orphanet:1123 UMLS:C2931593 SCTID:726621009 MEDGEN:419843" "OMIM:607831 OMIM:607706 ICD10:G60.0" "genome-wide profiling of gene expression in situ in fixed cells and tissues, in which RNA is converted into cross-linked cDNA amplicons and sequenced manually on a confocal microscope" "PMID:25675209" @@ -34196,7 +34196,7 @@ "H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." "ICD10:D76.3 OMIM:602782" "Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia." "UMLS:C1866656 OMIM:184460 MEDGEN:357104 GARD:12631 Orphanet:140917 SCTID:719305006" "UMLS:C1854467 OMIM:605280 MeSH:C537485 ICD10:G11.4" - "ChemIDplus:67227-56-9 \"CAS Registry Number\" DrugBank:DB00800 KEGG:D07946 Patent:DE2751258 Patent:DE2751258 \"Patent\" DrugBank:DB00800 \"DrugBank\" Wikipedia:Fenoldopam Patent:US4197297 Patent:US4197297 \"Patent\" Drug_Central:1153 SNOMEDCT:409138007 KEGG COMPOUND:C07693 \"KEGG COMPOUND\" Wikipedia:Fenoldopam \"Wikipedia\" LINCS:LSM-1609 KEGG:C07693 MeSH:D018818 SNOMEDCT:108590002 NCIt:C61759 CAS:67227-56-9" + "DrugBank:DB00800 KEGG:D07946 Patent:DE2751258 Patent:DE2751258 \"Patent\" DrugBank:DB00800 \"DrugBank\" Wikipedia:Fenoldopam Patent:US4197297 Patent:US4197297 \"Patent\" Drug_Central:1153 SNOMEDCT:409138007 KEGG COMPOUND:C07693 \"KEGG COMPOUND\" Wikipedia:Fenoldopam \"Wikipedia\" LINCS:LSM-1609 KEGG:C07693 MeSH:D018818 SNOMEDCT:108590002 NCIt:C61759 CAS:67227-56-9 ChemIDplus:67227-56-9 \"CAS Registry Number\"" "MeSH:D017902" "Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal." "UMLS:C1833676 GARD:4189 Orphanet:1952 MEDGEN:331566 SCTID:722127006 OMIM:167220 MESH:C538095" @@ -34381,7 +34381,7 @@ "Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus." "MESH:D002418" "Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients." "UMLS:C0796081 GARD:2572 NCIT:C123815 SCTID:699316006 ICD9:759.89 NORD:1481 Orphanet:2588 OMIM:139210 MEDGEN:167103 MESH:C537620" - "quantification of the ratio of the protein albumin to globulin in the blood serum" "http://www.ebi.ac.uk/efo/EFO_0005128 PMID:29403010" + "quantification of the ratio of the protein albumin to globulin in the blood serum" "PMID:29403010 http://www.ebi.ac.uk/efo/EFO_0005128" "The amount of a RNA-binding Raly-like protein when measured in blood serum." "A collagenous layer of the skin subjacent to the epidermis and covering the hypodermis. It contains various types of cells (e.g. fibroblasts, pigment cells, nerve, blood vessels and scales." "MA:0000152 AAO:0000128 BTO:0000294 ZFA:0001119 FMA:70323 MAT:0000153 EMAPA:17527 EV:0100154 XAO:0000217 SAEL:27" "An HODE (hydroxyoctadecadienoic acid) in which the double bonds are at positions 9 and 11 (E and Z geometry, respectively) and the hydroxy group is at position 13 (with S-configuration)." "PMID:26331820 Reaxys:3549663 KEGG:C14762 PDBeChem:243 PMID:25786212 LIPID_MAPS_instance:LMFA02000228 PMID:16997127 CAS:29623-28-7 KNApSAcK:C00000403" @@ -36424,7 +36424,7 @@ "UMLS:C3275446 MEDGEN:477077 GARD:18445 OMIM:300854" - "A disease involving the cardial valve." "MESH:D006349 NCIT:C45525 NCIt:C45525 NANDO:2100105 UMLS:C0018824 MONDO:0002869 SCTID:368009 MedDRA:10061406 MEDGEN:5463 ICD10:I08 ICD9:424.99 DOID:4079 MeSH:D006349" + "A disease involving the cardial valve." "MESH:D006349 NCIT:C45525 NCIt:C45525 NANDO:2100105 UMLS:C0018824 SCTID:368009 MONDO:0002869 MedDRA:10061406 MEDGEN:5463 ICD10:I08 ICD9:424.99 DOID:4079 MeSH:D006349" "Absence of the crystalline lens of the eye as a result of a developmental defect." "UMLS:C1853230" "Quantification of leucine-rich repeat-containing protein 74A in a sample." "PMID:29875488" @@ -36725,11 +36725,11 @@ "Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular etiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities." "MEDGEN:220981 Orphanet:542 UMLS:C1302772 NCIT:C7162 MedDRA:10051708 GARD:18698 SCTID:400001003" "GARD:17115 NANDO:1200536 Orphanet:216873 MEDGEN:1800044 UMLS:C5568621" - "A disease involving the basal ganglia." "CSP:2057-3403 SCTID:70835005 UMLS:C4520981 UMLS:C0004782 ICD10:G23 DOID:679 MESH:D001480 ICD9:333.0 MONDO:0003996 MEDGEN:1619147 MeSH:D001480" + "A disease involving the basal ganglia." "CSP:2057-3403 SCTID:70835005 UMLS:C4520981 UMLS:C0004782 ICD10:G23 DOID:679 MESH:D001480 MONDO:0003996 ICD9:333.0 MEDGEN:1619147 MeSH:D001480" "Quantification of uridine diphosphate glucose levels in a sample." "PMID:23823483" "The amount of a glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 when measured in blood serum." - "Inflammation of the pancreas." "UMLS:C0030305 NCIT:C3306 SNOMEDCT:75694006 MONDO:0004982 MeSH:D010195 DOID:4989 SCTID:75694006 MEDGEN:14586 NCIt:C3306 MedDRA:10033645 MESH:D010195" + "Inflammation of the pancreas." "UMLS:C0030305 NCIT:C3306 SNOMEDCT:75694006 MONDO:0004982 MeSH:D010195 DOID:4989 MEDGEN:14586 NCIt:C3306 MedDRA:10033645 SCTID:75694006 MESH:D010195" "A disease involving the pituitary gland." "MONDO:0003381 ICD9:253.8 ICD9:253.1 ICD9:253.9 MESH:D010900 NCIT:C26854 MEDGEN:45934 UMLS:C0032002 DOID:53 SCTID:399244003 ICD10:E23" "The amount of a carbohydrate sulfotransferase 10 when measured in blood serum." @@ -38268,7 +38268,7 @@ "Quantification of the amount of Dopamine sulfate (2) in a sample." "PMID:35050183" "An encounter with members of a health service related to socioeconomic and psychosocial circumstances." "ICD10:Z60" "Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan." "UMLS:C0025309 MeSH:D008590 MedDRA:10027282 MESH:D008590 SCTID:7125002 DOID:10554 MEDGEN:6301 ICD10:G04 NCIT:C34813 MONDO:0005845" - "An atrophic and sclerotic condition of the head of the PENIS, glans penis. Sometimes it leads to stenosis and occasionally obliteration of the external meatal orifice." "MedDRA:10024394 UMLS:C0022782 ICD10:N48.0 ICD9:607.0 MeSH:D052798 SCTID:3323003 MONDO:0006830 DOID:8738 MEDGEN:44036 SNOMEDCT:3323003 NCIT:C3151" + "An atrophic and sclerotic condition of the head of the PENIS, glans penis. Sometimes it leads to stenosis and occasionally obliteration of the external meatal orifice." "UMLS:C0022782 MedDRA:10024394 ICD10:N48.0 ICD9:607.0 MeSH:D052798 SCTID:3323003 MONDO:0006830 DOID:8738 MEDGEN:44036 SNOMEDCT:3323003 NCIT:C3151" "The amount of a mitotic spindle assembly checkpoint protein MAD2A when measured in blood serum." "A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. There is no cure for this condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a result of complications from atherosclerosis." "SNOMEDCT:238870004 NCIt:C34951 OMIM:176670 MeSH:D011371 DOID:3911" "CS57905 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158929&type=germplasm" @@ -38394,7 +38394,7 @@ "Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes." "UMLS:C3537440 NANDO:2201234 NANDO:1200162 Orphanet:411629 MEDGEN:760976 GARD:9755 ICD10EXP:E72.0+ ICD10EXP:N16.3*" "A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)" "MESH:D000405 SCTID:53333005 DOID:4267 MEDGEN:7942 MeSH:D000405 MedDRA:10001542 UMLS:C0001889 MONDO:0005640" "The amount of a neuromedin-U when measured in blood serum." - "Anatomical structure that is part of the head consisting entirely of cranium and mandible[WP]." "WikipediaCategory:Skull CALOHA:TS-2344 MESH:D012886 SCTID:110530005 NCIT:C12789 EHDAA2:0000325 GAID:82 Wikipedia:Skull FMA:46565 UMLS:C0037303 BTO:0001295 EMAPA:17680 galen:Skull" + "Anatomical structure that is part of the head consisting entirely of cranium and mandible[WP]." "WikipediaCategory:Skull CALOHA:TS-2344 MESH:D012886 SCTID:110530005 EHDAA2:0000325 NCIT:C12789 GAID:82 Wikipedia:Skull FMA:46565 UMLS:C0037303 BTO:0001295 EMAPA:17680 galen:Skull" "The amount of a Ran GTPase-activating protein 1 when measured in blood serum." "6-Deoxoteasterone in which the hydroxy group at position 3 has been oxidised to the corresponding ketone." "LIPID_MAPS_instance:LMST01030125 KNApSAcK:C00007274 KEGG:C15800 PMID:17138693 Beilstein:7387822" "The amount of a interleukin-31 when measured in blood serum." @@ -39110,7 +39110,7 @@ "OMIM:616280 ICD10:G60.0" "The amount of a transmembrane protein 132A when measured in blood serum." "Orphanet:140456 GARD:19924" - "A squamous cell carcinoma arising from the mucosa of the anal canal." "Orphanet:424019 UMLS:C1332262 GARD:21774 NCIT:C7469 DOID:7177 icd11.foundation:585238371 MEDGEN:233979" + "A squamous cell carcinoma arising from the mucosa of the anal canal." "Orphanet:424019 UMLS:C1332262 GARD:21774 NCIT:C7469 DOID:7177 MEDGEN:233979 icd11.foundation:585238371" "OMIM:617661 OMIM:618845 OMIM:617660" "human multiple myeloma cell line from a 77 year old female" @@ -39757,7 +39757,7 @@ "A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood." "NCIT:C131632 UMLS:C0015519 SCTID:76642003 MESH:D005171 NANDO:2200678 MEDGEN:4635" "A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "UMLS:C1335994 DOID:6880 MEDGEN:234788 NCIT:C5336" "The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes." "UMLS:C0011603 SNOMEDCT_US:703938007 MP:0004947 UMLS:C3875321" - "Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form." "ZFA:0000279 TAO:0000279 VHOG:0000559 XAO:0000057 EMAPA:16752 AAO:0011086 EMAPA:16189 EFO:0001982" + "Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form." "ZFA:0000279 TAO:0000279 VHOG:0000559 XAO:0000057 AAO:0011086 EMAPA:16752 EMAPA:16189 EFO:0001982" "A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." "NCIT:C5554 Orphanet:424002 GARD:21770 SCTID:766979005 UMLS:C1335690 DOID:5528 MEDGEN:235534" "Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia." "MEDGEN:336493 OMIM:271320 MESH:C536989 GARD:3795 Orphanet:2572 SCTID:715465001 UMLS:C1849085" "Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." "GARD:17171 DOID:0111502 OMIM:300816 SCTID:722212004 UMLS:C3151753 MEDGEN:463103 Orphanet:238329" @@ -39935,7 +39935,7 @@ "OMIM:619176 GARD:18500 MEDGEN:1766720 UMLS:C5436938" "Quantification of YTH domain-containing protein 1 in a sample." "PMID:29875488" "Quantification of the amount of guanosine in a sample." "PMID:24816252" - "Orphanet:79224 MEDGEN:48263 DOID:653 MedDRA:10037546 ICD9:277.2 MESH:D011686 UMLS:C0034139 GARD:18980" + "MEDGEN:48263 Orphanet:79224 DOID:653 MedDRA:10037546 ICD9:277.2 MESH:D011686 UMLS:C0034139 GARD:18980" "Quantification of chromodomain-helicase-DNA-binding protein 7 in a sample." "PMID:29875488" "The amount of a RNA-binding motif, single-stranded-interacting protein 1 when measured in blood serum." "Congenital ptosis is characterized by superior eyelid drop present at birth." "Orphanet:91411 OMIM:178300 MedDRA:10015996 ICD9:743.61 NCIT:C27049 DOID:0060261 MESH:C566737 HP:0007970 GARD:16798 MEDGEN:357987 UMLS:C1867438 SCTID:268163008" @@ -40089,7 +40089,7 @@ "A hydrochloride composed of equimolar amounts of cyclazosin and hydrogen chloride." "Reaxys:10227786" "A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor." "NORD:1258 NCIT:C98949 DOID:4626 UMLS:C0020225 HP:0002324 Orphanet:2177 MEDGEN:6937 MESH:D006832 GARD:6681 icd11.foundation:1963574608 SCTID:30023002" "A focal dystonia characterized by predominately cervical dystonia that has material basis in variation in the chromosome region 18p." "UMLS:C1865818 MEDGEN:355560 Orphanet:93963 DOID:0090040 NANDO:1200518 GARD:7782 OMIM:602124 MESH:C566572" - "The parathyroid gland is an endocrine gland for secretion of parathyroid hormone, usually found as a pair, embedded in the connective tissue capsule on the posterior surface of the thyroid gland. Parathyroid regulates calcium and phosphorous metabolism." "UMLS:C0030518 XAO:0000167 Wikipedia:Parathyroid_gland VHOG:0001188 SCTID:181121007 MESH:D010280 BTO:0000997 EFO:0000862 GAID:452 AAO:0010545 MA:0000128 MIAA:0000082 NCIT:C12765 EV:0100134 FMA:13890 MAT:0000082 EMAPA:32812 CALOHA:TS-0745" + "The parathyroid gland is an endocrine gland for secretion of parathyroid hormone, usually found as a pair, embedded in the connective tissue capsule on the posterior surface of the thyroid gland. Parathyroid regulates calcium and phosphorous metabolism." "UMLS:C0030518 XAO:0000167 Wikipedia:Parathyroid_gland VHOG:0001188 SCTID:181121007 MESH:D010280 BTO:0000997 EFO:0000862 GAID:452 AAO:0010545 MA:0000128 MIAA:0000082 NCIT:C12765 EV:0100134 FMA:13890 EMAPA:32812 CALOHA:TS-0745 MAT:0000082" "CAROLI was derived from wild mice trapped in Thailand and is from the species Mus caroli, which is distantly related to laboratory mice and does not breed with laboratory mice. These mice are characterized by black feet. This wild derived mouse strain is genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and is a valuable tool for sequence comparison, evolution and systematics research. " "JAX:000926" @@ -40149,7 +40149,7 @@ "Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." "MEDGEN:78790 ICD10CM:D56.2 ICD9:282.49 GARD:17165 NCIT:C172823 Orphanet:231237 UMLS:C0271985 SCTID:16360009 DOID:0080773 MESH:C562716 MedDRA:10012236" "OMIM:221995" "A border associated macrophage found at the interface between the blood and the cerebrospinal fluid in the brain. This central nervous system macrophage has a star-like shaped body and expresses scavenger receptors." - "A neoplasm (disease) that involves the parathyroid gland." "UMLS:C0030521 SCTID:127020005 NCIT:C3313 ICD9:239.7 MEDGEN:10586" + "A neoplasm (disease) that involves the parathyroid gland." "UMLS:C0030521 SCTID:127020005 NCIT:C3313 MEDGEN:10586 ICD9:239.7" "Muscle tissue that lacks cross striations, that is made up of elongated spindle-shaped cells having a central nucleus, and that is found in vertebrate visceral structures (as the stomach and bladder) as thin sheets performing functions not subject to conscious control by the mind and in all or most of the musculature of invertebrates other than arthropods." "XAO:0000175 EV:0100378 BTO:0001260 SAEL:97 FBbt:00003525 MAT:0000303" "A myeloid progenitor cell committed to the monocyte lineage. This cell is CD11b-positive, has basophilic cytoplasm, euchromatin, and the presence of a nucleolus." "ZFA:0009017 NCIt:C13014 CALOHA:TS-1195 SNOMEDCT:53945006 FMA:83553" "Inward advance of skin over the nail plate." "UMLS:C0406438 SNOMEDCT_US:110987009" @@ -40308,7 +40308,7 @@ "a specimen which is the output of some freeze drying process applied with the aim of perserving the specimen" "Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone)." "Orphanet:427 SCTID:715343000 UMLS:C4275180 MEDGEN:899592 GARD:16532" "Quantification of the amount of leukocyte surface antigen CD47 measurement in a sample." "PMID:36168886" - "Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)" "MONDO:0006576 MEDGEN:44205 MESH:D008158 ICD9:528.3 DOID:4558 Wikipedia:Ludwig's_angina UMLS:C0024081 SCTID:196542004" + "Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)" "MEDGEN:44205 MESH:D008158 ICD9:528.3 DOID:4558 Wikipedia:Ludwig's_angina UMLS:C0024081 SCTID:196542004 MONDO:0006576" "The amount of a UDP-glucuronosyltransferase 2B15 when measured in blood serum." "The determination of the amount of CD226 antigen in a sample" "PMID:28240269" "Split DamID (SpDamID)," "PMID:26257285" @@ -40739,7 +40739,7 @@ "A traumatic break in one or more of the bones in the foot. [ NCI ]" "NCIt:C28236 MedDRA:10016970" "Quantification of potassium-transporting ATPase subunit beta in a sample." "PMID:29875488" "Formation of stones in the URETER." "NCIT:C114696 NCIt:C114696 MeSH:D053039 MedDRA:10077989 MONDO:0007009 MEDGEN:21775 UMLS:C0041952 ICD9:592.1 MESH:D053039 SNOMEDCT:31054009 SCTID:31054009 ICD10:N21 DOID:14146" - "An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma." "NCIT:C39291 MedDRA:10066435 MONDO:0005187 UMLS:C1512508 NCIt:C39291 MEDGEN:268211" + "An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma." "MedDRA:10066435 NCIT:C39291 MONDO:0005187 UMLS:C1512508 NCIt:C39291 MEDGEN:268211" "A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of 3-methyladipic acid." "PMID:24023812" "A benign or malignant neoplasm that affects the supraglottic area of the larynx." "SCTID:126697005 UMLS:C0345726 DOID:8002 NCIT:C6793 MEDGEN:87512" "Lissencephaly with an autosomal recessive inheritance pattern." "MedGen:893379" @@ -40777,7 +40777,7 @@ "Quantification of BRICHOS domain-containing protein 5 in a sample." "PMID:29875488" "quantification of the amount of MHC class I polypeptide-related sequence B in a sample" "The treatment using UV-B light either exclusively or as part of a supplemental light involving electromagnetic radiation in the wavelength range of 315-10nm." - "Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction." "DOID:9779 UMLS:C2004461 ICD9:564.9 MEDGEN:384468 SCTID:235594008" + "Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction." "UMLS:C2004461 DOID:9779 ICD9:564.9 MEDGEN:384468 SCTID:235594008" "An acinous gland that is about the size and shape of an almond, secretes tears, and is situated laterally and superiorly to the bulb of the eye in a shallow depression on the inner surface of the frontal bone." "NCIt:C12346 BTO:0000044" "ZFA:0005093" "The amount of a cyclin-dependent kinase inhibitor 3 when measured in blood serum." @@ -41120,7 +41120,7 @@ "MEDGEN:324953 OMIM:600419 UMLS:C1838141 MESH:C563940" "Quantification of glycerol-3-phosphate levels in a sample." "PMID:23823483" - "A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis." "MONDO:0006042 MedDRA:10027190 Orphanet:499004 NORD:1437 NCIt:C84888 SCTID:58437007 MEDGEN:21725 GARD:7828 NCIT:C84888 UMLS:C0041318 MESH:D014390" + "A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis." "MONDO:0006042 MedDRA:10027190 Orphanet:499004 NORD:1437 NCIt:C84888 SCTID:58437007 MEDGEN:21725 NCIT:C84888 GARD:7828 UMLS:C0041318 MESH:D014390" "A rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency)." "OMIM:614868 Orphanet:314689 GARD:17430 MEDGEN:766857 UMLS:C3553943" "Inflammation of the eyelids near the eyelashes." "SCTID:41446000 MedDRA:10005148 MeSH:D001762 HP:0000498 ICD9:373.4 MEDGEN:598 ICD9:373.0 ICD10CM:H01.0 MESH:D001762 MONDO:0004785 MedDRA:10005150 UMLS:C0005741 ICD9:373.00 NCIt:C112183 NCIT:C112183 ICD10:H01 ICD9:373.8 ICD9:373.9 ICD10:H01.9 DOID:9423" "Primordium of the ear epithelium before it hollows into the otic vesicle, present beside the hindbrain rudiment in the mid-segmentation period. (Also see Anatomical Atlas entry for ear by T. Whitfield.)" "ZFA:0000138" @@ -42336,7 +42336,7 @@ "The amount of a checkpoint protein HUS1 when measured in blood serum." "A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential." "UMLS:C0079218 DOID:0080366 Orphanet:873 NCIT:C9182 UMLS:C1851124 OMIM:135290 GARD:1820 MONDO:0007608 ONCOTREE:DES ICDO:8821/1 MEDGEN:38187 UMLS:CN072436 ICD10:D48.1 NORD:1049 GARD:0001820" - "A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy." "MeSH:C565768 MONDO:0013681 UMLS:C3280428 GARD:15787 SCTID:700463002 NCIT:C119677 MESH:C565768 DOID:0060602 MEDGEN:482058 NCIt:C119677 NANDO:1200768 OMIM:614307" + "A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy." "MeSH:C565768 MONDO:0013681 UMLS:C3280428 GARD:15787 SCTID:700463002 NCIT:C119677 DOID:0060602 MESH:C565768 MEDGEN:482058 NCIt:C119677 NANDO:1200768 OMIM:614307" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene." "energy expenditure is generally considered to be the sum of internal heat produced and external work through physical activity" "SNOMEDCT:251833007" "Quantification of the amount of pregnanolone sulfate in a sample." "PMID:35347128" @@ -42822,7 +42822,7 @@ "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." "NCIT:C75469 OMIM:182290 MEDGEN:162881 DECIPHER:8 ICD9:758.33 GARD:8197 NANDO:2200954 NANDO:1200687 DOID:0060768 MESH:D058496 UMLS:C0795864 NORD:1725 SCTID:401315004 Orphanet:819" "Diamond–Blackfan anemia (DBA), is a congenital erythroid aplasia that usually presents in infancy and results in low red blood cell counts (anemia)." "MeSH:D029503 OMIM:105650" "The amount of a SH3 domain-containing kinase-binding protein 1 when measured in blood serum." - "Major subdivision of an organism that protrudes from the body[DOS, CARO]." "BTO:0001492 VSAO:0000075 FBbt:00007000 EHDAA2:0003193 EMAPA:37283 UMLS:C0598782 NCIT:C61460 MESH:D005121 XAO:0000218 Wikipedia:Appendage EV:0100155 HAO:0000144 AEO:0000193 MIAA:0000023 BILA:0000018 MAT:0000023 CARO:0010003 EFO:0000799" + "Major subdivision of an organism that protrudes from the body[DOS, CARO]." "EFO:0000799 BTO:0001492 VSAO:0000075 FBbt:00007000 EHDAA2:0003193 EMAPA:37283 UMLS:C0598782 NCIT:C61460 MESH:D005121 XAO:0000218 Wikipedia:Appendage EV:0100155 HAO:0000144 AEO:0000193 MIAA:0000023 BILA:0000018 MAT:0000023 CARO:0010003" "A monocarboxylic acid that is propanoic acid in which one of the hydrogens at position 3 has been replaced by a 4-hydroxy-3-methoxyphenyl group." "PMID:27102241 FooDB:FDB029987 PMID:26899568 PMID:11693915 PMID:23904092 PMID:25644343 PMID:26471074 PMID:19157126 PMID:21676405 PMID:24947504 AGR:IND601125916 PMID:24949277 PMID:27689343 Reaxys:2110370 PMID:23982107 PMID:25809126 KNApSAcK:C00040946 PMID:17469871 PMID:25261518 PMID:11368919 CAS:1135-23-5" "A chronic inflammatory process that affects the tissues that surround and support the teeth." "MedDRA:10009102 MONDO:0005593 ICD9:523.40 SCTID:5689008 ICD9:523.4 OMIM:260950 ICD10CM:K05.3 NCIt:C35326 OMIM:170650 MeSH:D055113 MESH:D055113 SNOMEDCT:5689008 NCIT:C35326" @@ -43116,7 +43116,7 @@ "NCIt:C86544 MeSH:D009166 SNOMEDCT:58242002" "A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma." "ONCOTREE:UEC NCIT:C6287 MONDO:0006192 EFO:1000233 MEDGEN:234467 UMLS:C1336905" "A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults." "ICDO:9424/3 GARD:10631 Orphanet:251607 MEDGEN:137786 UMLS:C0334586 ONCOTREE:PXA DOID:4852 NCIT:C4323" - "The hip region is located lateral to the gluteal region (i.e. the buttock), inferior to the iliac crest, and overlying the greater trochanter of the thigh bone. In adults, three of the bones of the pelvis have fused into the hip bone which forms part of the hip region. The hip joint, scientifically referred to as the acetabulofemoral joint (art. coxae), is the joint between the femur and acetabulum of the pelvis and its primary function is to support the weight of the body in both static (e.g. standing) and dynamic (e.g. walking or running) postures. [WP,modified]." "NCIT:C64193 UMLS:C0019552 EHDAA2:0000783 VHOG:0000346 EMAPA:17490 EHDAA:5153 BTO:0001457 MA:0000045 galen:Hip EFO:0001929 SCTID:302543008 EHDAA:6178 FMA:24964 MESH:D006615 CALOHA:TS-2226 Wikipedia:Hip GAID:47" + "The hip region is located lateral to the gluteal region (i.e. the buttock), inferior to the iliac crest, and overlying the greater trochanter of the thigh bone. In adults, three of the bones of the pelvis have fused into the hip bone which forms part of the hip region. The hip joint, scientifically referred to as the acetabulofemoral joint (art. coxae), is the joint between the femur and acetabulum of the pelvis and its primary function is to support the weight of the body in both static (e.g. standing) and dynamic (e.g. walking or running) postures. [WP,modified]." "NCIT:C64193 UMLS:C0019552 EHDAA2:0000783 VHOG:0000346 EHDAA:5153 BTO:0001457 EMAPA:17490 MA:0000045 galen:Hip EFO:0001929 SCTID:302543008 EHDAA:6178 FMA:24964 MESH:D006615 CALOHA:TS-2226 Wikipedia:Hip GAID:47" "An octadecatetraenoic acid having four double bonds located at positions 6, 9, 12 and 15 (the all-cis-isomer). It has been isolated from Lithospermum officinale and fish oils." "HMDB:HMDB0006547 Beilstein:1712973 Reaxys:1712973 KEGG:C16300 LIPID_MAPS_instance:LMFA01030357 Wikipedia:Stearidonic_acid PMID:23932357 MetaCyc:CPD-12653 KNApSAcK:C00000405 CAS:20290-75-9 Patent:CA2827585 PMID:24553695 Patent:KR20130045846" "The amount of a TraB domain-containing protein when measured in blood serum." @@ -43794,7 +43794,7 @@ "circumferential measurement of the largest part of the hip" "NCIt:C100947 SNOMEDCT:284472007" "Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." "ICD10:Q87.0 UMLS:C2931889 UMLS:C0026363 MeSH:C538585 OMIM:252100" "The amount of a probable aminopeptidase NPEPL1 when measured in blood serum." - "A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." "DOID:4147 MEDGEN:184920 MONDO:0006180 NCIT:C36207 UMLS:C0948101 EFO:1000217" + "A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." "MEDGEN:184920 MONDO:0006180 NCIT:C36207 UMLS:C0948101 EFO:1000217 DOID:4147" "Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." "MeSH:D055496 ICD9:564.81 UMLS:C0695242 MONDO:0006868 MEDGEN:151969 ICD10:K59.2 SNOMEDCT:425671009 MedDRA:10048657 MESH:D055496 DOID:13419 SCTID:425671009" "A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system." "DOID:0080684" @@ -43963,7 +43963,7 @@ "Quantification of the amount of dehydroepiandrosterone (DHEA) in a sample." "PMID:23696881" "Quantification of phosphoglycerides." - "A subdivision of the head that has as parts the layers deep to the surface of the anterior surface, including the mouth, eyes, and nose (when present). In vertebrates, this includes the facial skeleton and structures superficial to the facial skeleton (cheeks, mouth, eyeballs, skin of face, etc)." "MESH:D005145 UMLS:C0015450 EMAPA:32763 SCTID:302549007 NCIT:C13071 MA:0002473 HAO:0000316 CALOHA:TS-2216 Wikipedia:Face galen:Face GAID:64 BTO:0003369 FMA:24728" + "A subdivision of the head that has as parts the layers deep to the surface of the anterior surface, including the mouth, eyes, and nose (when present). In vertebrates, this includes the facial skeleton and structures superficial to the facial skeleton (cheeks, mouth, eyeballs, skin of face, etc)." "MESH:D005145 UMLS:C0015450 EMAPA:32763 SCTID:302549007 NCIT:C13071 MA:0002473 HAO:0000316 CALOHA:TS-2216 Wikipedia:Face GAID:64 galen:Face BTO:0003369 FMA:24728" "The amount of a early endosome antigen 1 when measured in blood serum." "SNOMEDCT:440806006" @@ -44395,7 +44395,7 @@ "A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug." "Abnormal flatness (decreased height) of epiphyses." "UMLS:C1857527" "Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape." "NANDO:1200874 DOID:13481 UMLS:C0039743 MESH:D013796 icd11.foundation:1668919215 MEDGEN:21124 NCIT:C85187 MedDRA:10049808 Orphanet:2655 SCTID:29352008 GARD:85 ICD9:259.4" - "An organ that is capable of transducing sensory stimulus to the nervous system." "UMLS:C0935626 AEO:0000094 BSA:0000121 EHDAA:500 VHOG:0001407 BTO:0000202 NCIT:C33224 EMAPA:35955 CALOHA:TS-2043 MESH:D012679 GAID:63 EHDAA2:0001824 WBbt:0006929 FBbt:00005155 HAO:0000930 SCTID:244485009 MA:0000017" + "An organ that is capable of transducing sensory stimulus to the nervous system." "UMLS:C0935626 AEO:0000094 BSA:0000121 EHDAA:500 VHOG:0001407 BTO:0000202 NCIT:C33224 EMAPA:35955 MESH:D012679 CALOHA:TS-2043 GAID:63 EHDAA2:0001824 WBbt:0006929 FBbt:00005155 HAO:0000930 SCTID:244485009 MA:0000017" "GARD:6226 MEDGEN:36336 UMLS:C0079773 MedDRA:10011677 MESH:D016410 Orphanet:171901" @@ -44488,7 +44488,7 @@ "A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3’ end are purified." "The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid)." - "A paired organ of the urinary tract that produces urine and maintains bodily fluid homeostasis, blood pressure, pH levels, red blood cell production and skeleton mineralization." "BTO:0000671 UMLS:C0022646 MIAA:0000119 galen:Kidney XAO:0003267 MESH:D007668 CALOHA:TS-0510 Wikipedia:Kidney GAID:423 MAT:0000119 AAO:0000250" + "A paired organ of the urinary tract that produces urine and maintains bodily fluid homeostasis, blood pressure, pH levels, red blood cell production and skeleton mineralization." "BTO:0000671 UMLS:C0022646 MIAA:0000119 galen:Kidney XAO:0003267 MESH:D007668 CALOHA:TS-0510 Wikipedia:Kidney MAT:0000119 GAID:423 AAO:0000250" "A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas)." "UMLS:C1333799 MESH:C535650 MEDGEN:232237 Orphanet:100092 NCIT:C27721 GARD:2437" "An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." "SCTID:6655004 ICD9:464.0 ICD10CM:J04.0 DOID:9396 MEDGEN:1317 NCIT:C26688 ICD9:464.01 UMLS:C0001327 ICD9:464.00" @@ -44583,7 +44583,7 @@ "Sex reversal in an individual associated with a 9p24.3 deletion." "NCIT:C132270 MESH:C567887 MEDGEN:416704 OMIM:154230 GARD:15083 UMLS:C2752149 DOID:0111771" "A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." "MONDO:0019496 NCIT:C3809 ICD9:209-209.99 Orphanet:877 MESH:D018358 DOID:169 MEDGEN:64652 ICD9:209 ICD9:239.7 MeSH:D018358 UMLS:C0206754 GARD:9316 SCTID:255046005" "The chemical reactions and pathways involving any ribonucleoside, a nucleoside in which purine base is linked to a ribose (beta-D-ribofuranose) molecule." - "The tertiary bronchi (also known as the segmental bronchi) arise from the secondary bronchi. The respiratory epithelium lining their lumen is surrounded by a layer of smooth muscle. This layer is composed of two ribbons of smooth muscle that spiral in opposite directions. The smooth muscle layer is surrounded by irregular plates of hyaline cartilage which help maintain the patency of the airway. Each of the tertiary bronchi serves a specific bronchopulmonary segment. There are 10 tertiary bronchi in the right lung, and eight in the left. The tertiary bronchi get smaller and divide into primary bronchioles. [WP,unvetted]." "NCIT:C33526 MA:0000439 EMAPA:37739 Wikipedia:Segmental_bronchus VHOG:0001446 UMLS:C0444439 FMA:7407 EHDAA:7064 EHDAA:7043 EHDAA:7058 SCTID:245513001 EHDAA:7049 EHDAA:7070" + "The tertiary bronchi (also known as the segmental bronchi) arise from the secondary bronchi. The respiratory epithelium lining their lumen is surrounded by a layer of smooth muscle. This layer is composed of two ribbons of smooth muscle that spiral in opposite directions. The smooth muscle layer is surrounded by irregular plates of hyaline cartilage which help maintain the patency of the airway. Each of the tertiary bronchi serves a specific bronchopulmonary segment. There are 10 tertiary bronchi in the right lung, and eight in the left. The tertiary bronchi get smaller and divide into primary bronchioles. [WP,unvetted]." "NCIT:C33526 MA:0000439 EMAPA:37739 Wikipedia:Segmental_bronchus UMLS:C0444439 VHOG:0001446 FMA:7407 EHDAA:7064 EHDAA:7043 EHDAA:7058 SCTID:245513001 EHDAA:7049 EHDAA:7070" "Non-transformed BJ cells expressing hTERT and SV40 early region." "An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported." "MEDGEN:1806624 DOID:0081142 UMLS:C5676900 OMIM:619707" "A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative." "UMLS:C4551515 Orphanet:90280 MedDRA:10025141 MEDGEN:1632142 GARD:19130 DOID:0060386" @@ -45004,7 +45004,7 @@ "The amount of a sentrin-specific protease 8 when measured in blood serum." - "The section of the pharynx that lies above the soft palate." "Wikipedia:Nasopharynx NCIT:C12423 EMAPA:17670 MAT:0000447 MA:0000443 EHDAA:7086 EV:0100066 VHOG:0000375 EHDAA2:0001239 CALOHA:TS-0663 SCTID:181200003 BTO:0000662 GAID:339 UMLS:C0027442 MESH:D009305 FMA:54878" + "The section of the pharynx that lies above the soft palate." "Wikipedia:Nasopharynx NCIT:C12423 EMAPA:17670 MAT:0000447 MA:0000443 EHDAA:7086 EV:0100066 VHOG:0000375 EHDAA2:0001239 CALOHA:TS-0663 BTO:0000662 GAID:339 SCTID:181200003 UMLS:C0027442 MESH:D009305 FMA:54878" "Panc 08.13 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2551)" "Reduced distance from the anterior border of the naris to the subnasale." "UMLS:C1857479 UMLS:C4280585" "Quantification of lysozyme-like protein 2 in a sample." "PMID:29875488" @@ -45212,7 +45212,7 @@ "Any member of a family of organelles found in the cytoplasm of plants and some protists, which are membrane-bounded and contain DNA. Plant plastids develop from a common type, the proplastid." "Wikipedia:Plastid SNOMEDCT:68008002" "The amount of a annexin A3 when measured in blood serum." "Quantification of the amount of Indole-5-carboxylic acid in a sample." "PMID:33634981" - "Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS)." "DOID:864 SNOMEDCT:61599003 NCIT:C38003 MESH:D010689 UMLS:C0031542 MedDRA:10034879 MONDO:0004625 MEDGEN:18425 ICD10:I80 MeSH:D010689 SCTID:61599003 NCIt:C38003" + "Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS)." "NCIt:C38003 DOID:864 SNOMEDCT:61599003 NCIT:C38003 MESH:D010689 UMLS:C0031542 MedDRA:10034879 MONDO:0004625 MEDGEN:18425 ICD10:I80 MeSH:D010689 SCTID:61599003" "CXXC affinity purification plus deep sequencing (CAP-seq)" "PMID:20885785" "The amount of a short/branched chain specific acyl-CoA dehydrogenase, mitochondrial when measured in blood serum." "OMIMPS:256550" @@ -46987,7 +46987,7 @@ "The amount of a Phosphatidylcholine (18:1_18:2) when measured in blood serum." "Quantification of the amount of N-acetylkynurenine (2) in a sample." "PMID:35347128" - "An ether compound having fluoromethyl and 1,1,1,3,3,3-hexafluoroisopropyl as the two alkyl groups." "KEGG:D00547 DrugBank:DB01236 Wikipedia:Sevoflurane SNOMEDCT:108395008 NCIt:C47717 Patent:DE1954268 CAS:28523-86-6 MeSH:C009250 Beilstein:2041023 Patent:US3689571 KEGG:C07520 Drug_Central:2439 SNOMEDCT:386842005" + "An ether compound having fluoromethyl and 1,1,1,3,3,3-hexafluoroisopropyl as the two alkyl groups." "KEGG:D00547 DrugBank:DB01236 Wikipedia:Sevoflurane SNOMEDCT:108395008 NCIt:C47717 Patent:DE1954268 MeSH:C009250 CAS:28523-86-6 Beilstein:2041023 Patent:US3689571 KEGG:C07520 Drug_Central:2439 SNOMEDCT:386842005" "Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)" "DOID:8619 SCTID:426451004 MEDGEN:155520 ICD9:327.13 ICD10CM:G47.13 UMLS:C0751226" "Quantification of neuropeptide W in a sample." "PMID:29875488" "The amount of a growth/differentiation factor 3 when measured in blood serum." @@ -47186,7 +47186,7 @@ "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." "MEDGEN:331297 DOID:0110543 OMIM:601317 GARD:18104 MESH:C563353 UMLS:C1832475" "A lysophosphatidylcholine 18:1 in which the acyl group is specified as oleoyl and is located at position 2." "Reaxys:9025730 HMDB:HMDB0061701 LIPID_MAPS_instance:LMGP01050082" - "Section of colon which is distal to the cecum and proximal to the transversecolon.[FMA,modified]." "MESH:D044682 FMA:14545 galen:AscendingColon EMAPA:35151 CALOHA:TS-0057 MA:0001541 EFO:0000843 MAT:0000311 MIAA:0000311 SCTID:362162009 Wikipedia:Ascending_colon BTO:0000270 NCIT:C12265 UMLS:C0227375" + "Section of colon which is distal to the cecum and proximal to the transversecolon.[FMA,modified]." "MESH:D044682 FMA:14545 galen:AscendingColon CALOHA:TS-0057 EMAPA:35151 MA:0001541 EFO:0000843 MAT:0000311 MIAA:0000311 SCTID:362162009 Wikipedia:Ascending_colon BTO:0000270 NCIT:C12265 UMLS:C0227375" "An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1)." "MedDRA:10026667 ONCOTREE:MPNST NCIt:C3798 MONDO:0017827 ICDO:9540/3 MeSH:D018317 icd11.foundation:71413945 DOID:5940 MEDGEN:155614 MedDRA:10029236 GARD:10872 SNOMEDCT:19897006 ICD9:171.9 MeSH:D018319 SNOMEDCT:404037002 NCIT:C3798 NANDO:2200102 ICDO:9560/3 UMLS:C0751690 Orphanet:3148 SCTID:404037002" "Quantification of tropomodulin-1 in a sample." "PMID:29875488" @@ -47487,7 +47487,7 @@ "The amount of a TOM1-like protein 2 when measured in blood serum." "CAS:41205-06-5 KEGG:C14308 MeSH:D008726 NCIt:C50378 Beilstein:1913191 VSDB:1457 PPDB:1457 KEGG:D08200 CAS:40596-69-8" "A disease that has its basis in the disruption of intestinal motility." "MEDGEN:586448 UMLS:C0400865" - "A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]." "EV:0100161 NCIT:C33519 Wikipedia:Sebaceous_gland BTO:0001980 CALOHA:TS-2384 VHOG:0001468 UMLS:C0036505 MESH:D012627 MA:0002565 GAID:900 FMA:59160 SCTID:361697005 EMAPA:35754" + "A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]." "EV:0100161 NCIT:C33519 Wikipedia:Sebaceous_gland BTO:0001980 CALOHA:TS-2384 VHOG:0001468 UMLS:C0036505 MESH:D012627 MA:0002565 GAID:900 FMA:59160 EMAPA:35754 SCTID:361697005" "The rostral extensions of the ventricular system of the brain consisting of two cavities, one on each side of the brain within the central regions of each cerebral hemisphere. Cerebrospinal fluid flows from the lateral ventricles into the centrally third ventricle via the foramen of Monroe." "MeSH:D020547 NIFSTD:birnlex_1263 BTO:0000879 NCIt:C12834" "A neuroepithelial cells that occurs singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid. Expresses a form of the neural cell adhesion molecule (N-CAM) on their surface. Secretes calcitonin, 5-hydroxytryptamine and dopamine." "SCTID:176770005 ZFA:0009260 FMA:68653" "Gonochoristic organism that can produce female gametes." "TAO:0000303 CARO:0000028 AAO:0010030 BILA:0000028 XAO:0003005 TGMA:0001839 SCTID:362608006 HAO:0000028 FBbt:00007011 FMA:67812 ZFA:0000303" @@ -49024,7 +49024,7 @@ "MEDGEN:301437 UMLS:C1619700 OMIM:191830" "TAO:0001334 AAO:0000472 ZFA:0001334 EFO:0003462" "SNOMEDCT:243242006" - "A primary or metastatic malignant neoplasm involving the bladder." "ICD9:188.9 ICD9:188.8 DOID:11054 NCIT:C9334 MEDGEN:14150 Orphanet:157980 OMIM:109800 SCTID:399326009 ICD9:188 UMLS:C0005684" + "A primary or metastatic malignant neoplasm involving the bladder." "UMLS:C0005684 ICD9:188.9 ICD9:188.8 DOID:11054 NCIT:C9334 MEDGEN:14150 Orphanet:157980 OMIM:109800 SCTID:399326009 ICD9:188" "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix." "NCIT:C3267 GARD:0007892 MESH:D009396 EFO:1000056 MedDRA:10047985 UMLS:CN244940 MedDRA:10047987" "Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)" "NCIT:C131502" @@ -49378,7 +49378,7 @@ "Quantification of 1-amino-24-dibromoanthraquinone in blood plasma." "KEGG COMPOUND:C19211" "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." "NANDO:2201206 Orphanet:77292 NANDO:1200061 UMLS:C0268242 GARD:7206 SCTID:52165006 NCIT:C126561 DOID:0070111 MEDGEN:78650 OMIM:257200 MESH:D052536" - "A brain ventricle that is part of a telencephalon. In mammals and species with an evaginated telencephalon, this is one of a pair of lateral structures, one in each hemisphere." "GAID:611 HBA:9419 VHOG:0000643 BIRNLEX:1263 SCTID:180930008 EHDAA:3502 DHBA:10596 Wikipedia:Lateral_ventricle CALOHA:TS-1230 BTO:0000879 EFO:0001961 BAMS:LV FMA:78448 NCIT:C12834 EHDAA2:0001984 BM:Tel-LV ZFA:0000696 BAMS:Tel-V MBA:81 UMLS:C0152279 DMBA:126651562 EHDAA:6576 EV:0100307 MA:0000192 TAO:0000696 MESH:D020547 neuronames:209" + "A brain ventricle that is part of a telencephalon. In mammals and species with an evaginated telencephalon, this is one of a pair of lateral structures, one in each hemisphere." "GAID:611 VHOG:0000643 HBA:9419 BIRNLEX:1263 SCTID:180930008 EHDAA:3502 DHBA:10596 Wikipedia:Lateral_ventricle CALOHA:TS-1230 BTO:0000879 EFO:0001961 BAMS:LV FMA:78448 NCIT:C12834 EHDAA2:0001984 ZFA:0000696 BM:Tel-LV BAMS:Tel-V MBA:81 UMLS:C0152279 DMBA:126651562 EHDAA:6576 EV:0100307 MA:0000192 TAO:0000696 MESH:D020547 neuronames:209" "The amount of a receptor-type tyrosine-protein phosphatase H when measured in blood serum." "A Herpesviridae infectious disease that results_in infection, has_agent Human herpesvirus 4, which is transmitted_by contact with the saliva." "MedDRA:10015108 UMLS:C0149678 MESH:D020031 NCIt:C38759 MeSH:D020031 MEDGEN:57439 NCIT:C38759 DOID:2938 MONDO:0005111" "Any measurable or observable characteristic related to the size of the tragus, a small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the meatus" @@ -50127,7 +50127,7 @@ "Quantification of histone deacetylase complex subunit SAP30 in a sample." "PMID:29875488" "A tissue-resident macrophage found in the mucosa associated lymphoid tissue." "Quantification of the amount of interleukin 1-alpha protein in a sample." "PMID:30134952" - "A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." "MeSH:D001024 DOID:1712 SNOMEDCT:420503003 NCIt:C64938 OMIM:109730 MedDRA:10002906 SNOMEDCT:60573004 NCIt:C50462" + "A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." "MeSH:D001024 SNOMEDCT:420503003 DOID:1712 NCIt:C64938 OMIM:109730 MedDRA:10002906 SNOMEDCT:60573004 NCIt:C50462" "A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders." "MEDGEN:181871 UMLS:C0949628 MESH:D024182 NCIT:C85215" "Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss." "UMLS:C0521694 UMLS:C0035304 SNOMEDCT_US:95695004 SNOMEDCT_US:405722004" @@ -50215,7 +50215,7 @@ "The amount of a mucosa-associated lymphoid tissue lymphoma translocation protein 1 when measured in blood serum." "UMLS:C5231404 MEDGEN:1684774 OMIM:618547" - "A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative." "ICD9:709.8 MONDO:0006787 UMLS:C0206672 DOID:3893 EFO:1000967 NCIT:C3760 MESH:D018251 MEDGEN:61656 MedDRA:10059019 SCTID:254725004 ICDO:8404/0" + "A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative." "ICD9:709.8 MONDO:0006787 UMLS:C0206672 DOID:3893 EFO:1000967 MESH:D018251 NCIT:C3760 MEDGEN:61656 MedDRA:10059019 SCTID:254725004 ICDO:8404/0" "Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated." "icd11.foundation:20223105 Orphanet:98942 MEDGEN:1643994 UMLS:C4708599 GARD:16875 SCTID:39302008" "A measurement of the number of children born" "Epithelial tube with excretory and osmoregulatory roles connected, via a ureter, to the alimentary canal at the junction of the hindgut and midgut. There are two pairs of Malpighian tubules, the right pair lie at the anterior end of the abdomen, and the left pair at the posterior. Each tubule unites with its partner to form a common ureter which enters the alimentary canal at the junction of the hindgut and midgut (Wessing and Eichelberg, 1978)." "MAT:0000123 BTO:0000810 TGMA:0001038 FBbt:00005786 TADS:0000163 FBbt:00005725" @@ -50419,7 +50419,7 @@ "UMLS:C1845245" "quantification of some aspect of the deposition of amyloid proteins in an organ" - "A disorder involving the attachment of a tendon or ligament to a bone" "MEDGEN:66909 ICD10:M76 MONDO:0002183 ICD9:726.90 ICD10:M77 MedDRA:10014910 MESH:D012216 MESH:D000070676 UMLS:C0242490 DOID:204 ICD9:726.9 SCTID:23680005" + "A disorder involving the attachment of a tendon or ligament to a bone" "ICD10:M76 MEDGEN:66909 MONDO:0002183 ICD9:726.90 ICD10:M77 MedDRA:10014910 MESH:D012216 MESH:D000070676 UMLS:C0242490 DOID:204 ICD9:726.9 SCTID:23680005" "OMIM:103470" "Quantification of the amount of O-methylcatechol sulfate in a sample." "PMID:35050183" @@ -50507,7 +50507,7 @@ "A disease involving the spleen." "MeSH:D013158 ICD9:289.50 MONDO:0002332 ICD10:D73 DOID:2529 MEDGEN:21291 ICD10CM:D73 SCTID:51244008 MESH:D013158 UMLS:C0037997 NCIT:C35823" "A quality inhering in a bearer by virtue of the bearer's deviation from normal or average." "NCIt:C25401 SNOMEDCT:263654008" - "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." "DOID:7133 NCIT:C6763 MEDGEN:232229 UMLS:C1333759 MONDO:0006219 EFO:1000266" + "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." "EFO:1000266 DOID:7133 NCIT:C6763 MEDGEN:232229 UMLS:C1333759 MONDO:0006219" "A malignant neoplasm involving the respiratory system" "ICD9:165.9 SCTID:449096009 MEDGEN:756863 ICD9:165.8 DOID:0050615 UMLS:C3164456" "The amount of a autophagy protein 5 when measured in blood serum." @@ -51199,7 +51199,7 @@ "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral." "NANDO:2100204 SCTID:234532001 MEDGEN:7034 UMLS:C0021051 ICD9:279.3 NCIT:C3131 OMIMPS:300755" "MEDGEN:1750805 OMIM:619121 UMLS:C5436848 DOID:0070543" "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus." "MEDGEN:813072 OMIM:300915 DOID:0111811 GARD:17709 Orphanet:431140 UMLS:C3806742" - "A disease that involves the superficial vasculature." "MESH:D017445 DOID:9540 MEDGEN:102473 UMLS:C0162819 NCIT:C35254 SCTID:11263005 ICD9:709.1 MedDRA:10062171 Orphanet:79379" + "A disease that involves the superficial vasculature." "Orphanet:79379 MESH:D017445 DOID:9540 MEDGEN:102473 UMLS:C0162819 NCIT:C35254 SCTID:11263005 ICD9:709.1 MedDRA:10062171" "A volume unit which is equal to one tenth of a liter or 10^[-1] L." "MO:624 SNOMEDCT:258771000 NCIt:C64697" "Quantification of 2-hydroxyisobutyrate in a sample." "PMID:33283231" @@ -51314,7 +51314,7 @@ "Quantification of tubulin-specific chaperone A in a sample." "PMID:29875488" "Bologna is an Arabidopsis ecotype." "Quantification of the amount of 1-stearoyl-2-docosahexaenoyl-GPE (18:0/22:6) in a sample." "PMID:35347128" - "A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology." "MeSH:D046728 DOID:60182 Orphanet:58220 MedDRA:10056979 UMLS:C0400821 SNOMEDCT:235753003 SCTID:235753003 MONDO:0000702 NCIT:C38504 DOID:0060182 NCIt:C38504 MEDGEN:98005 ICD9:558.9 ORDO:Orphanet_58220 MESH:D046728" + "A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology." "MeSH:D046728 DOID:60182 Orphanet:58220 MedDRA:10056979 UMLS:C0400821 SCTID:235753003 SNOMEDCT:235753003 MONDO:0000702 NCIT:C38504 DOID:0060182 NCIt:C38504 MEDGEN:98005 ICD9:558.9 ORDO:Orphanet_58220 MESH:D046728" "Quantification of the amount of X-10810 in a sample." "PMID:24816252" "Quantification of some aspect of thigh muscle volume." "Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells)." "DOID:8541 ICD9:202.2 EFO:1000785 Orphanet:3162 GARD:7629 MEDGEN:19959 NCIT:C3366 MedDRA:10040500 GARD:0007629 MedDRA:10040493 ICD10:C84.1 UMLS:C0036920 SCTID:118611004 NORD:1707 MONDO:0017844 ICDO:9701/3 icd11.foundation:1358020385 ONCOTREE:SS MESH:D012751 ICD10:C84.10" @@ -52384,7 +52384,7 @@ "Quantification of the amount of 3-hydroxyhexanoate in a sample." "PMID:35347128" "Any member of the group of 1,3-thiazolium cations that exhibit biological activity against vitamin B1 deficiency in animals. Symptoms of vitamin B1 deficiency include constipation, loss of apetite, fatigue, nausea, delirium, blurry vision and muscle weakness. Severe vitamin B1 deficiency can also lead to a disease known as beriberi. Vitamin B1 consists of the vitamer thiamin and its acid, aldehyde and phosphorylated derivatives (and their corresponding ionized, salt and hydrate forms)." "PMID:32554808 PMID:28859374" "A lysophosphatidylethanolamine in which the acyl group has a fully saturated C18 chain and is attached to the glycero moiety at either position 1 or 2." "PMID:19347970" - "Inflammation of a vein." "DOID:864 SNOMEDCT:61599003 NCIT:C38003 MESH:D010689 UMLS:C0031542 MedDRA:10034879 MONDO:0004625 MEDGEN:18425 ICD10:I80 MeSH:D010689 SCTID:61599003 NCIt:C38003" + "Inflammation of a vein." "NCIt:C38003 DOID:864 SNOMEDCT:61599003 NCIT:C38003 MESH:D010689 UMLS:C0031542 MedDRA:10034879 MONDO:0004625 MEDGEN:18425 ICD10:I80 MeSH:D010689 SCTID:61599003" "The amount of a leucine-rich repeat-containing protein 3 when measured in blood serum." "CS57750 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158774&type=germplasm" "The amount of a smad1 when measured in blood serum." @@ -52972,7 +52972,7 @@ "A butyrylcholinesterase measurement is a quanitification of butyrylcholinesterase a non-specific cholinesterase enzyme that hydrolyses many different choline esters. It is found in liver in humans." "NCIt:C111142" "The amount of a serum response factor-binding protein 1 when measured in blood serum." - "Inflammation of renal tissue. [ NCIt:P378 ]" "MedDRA:10029117 MESH:D009393 ICD9:583.7 NCIT:C26833 SCTID:52845002 MONDO:0001166 MEDGEN:14328 ICD9:583.9 UMLS:C0027697 DOID:10952 ICD10:N10 ICD10:N05 ICD9:583.89 ICD10:N12" + "Inflammation of renal tissue. [ NCIt:P378 ]" "MedDRA:10029117 MESH:D009393 ICD9:583.7 SCTID:52845002 NCIT:C26833 MONDO:0001166 MEDGEN:14328 ICD9:583.9 UMLS:C0027697 DOID:10952 ICD10:N10 ICD10:N05 ICD9:583.89 ICD10:N12" "Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." "UMLS:C0796139 OMIM:225000" "A trait that affects the response to a stimulus with irinotecan." "The amount of a POTE ankyrin domain family member G when measured in blood serum." @@ -54544,7 +54544,7 @@ "Quantification of disintegrin and metalloproteinase domain-containing protein 11 in a sample." "PMID:29875488" "OMIM:262700" "Quantification of an individual's susceptibility to infactions of the urinary tract, typically caused by Escherichia coli, Staphylococcus saprophyticus, or other fecal flora." "PMID:28928442" - "The fundus is the portion of the stomach that lies above the cardiac notch, and contains the fundic glands[GO, Kardong]." "EFO:0002554 VHOG:0000421 NCIT:C12257 EMAPA:17886 GAID:320 EHDAA2:0001919 SCTID:362139007 Wikipedia:Fundus_(stomach) MESH:D005748 EHDAA:4844 MA:0001612 BTO:0000502 FMA:14559 galen:GastricFundus UMLS:C0017129" + "The fundus is the portion of the stomach that lies above the cardiac notch, and contains the fundic glands[GO, Kardong]." "EFO:0002554 VHOG:0000421 NCIT:C12257 EMAPA:17886 GAID:320 EHDAA2:0001919 SCTID:362139007 MESH:D005748 Wikipedia:Fundus_(stomach) EHDAA:4844 MA:0001612 BTO:0000502 FMA:14559 galen:GastricFundus UMLS:C0017129" "MEDGEN:462056 GARD:12640 UMLS:C3150706 OMIM:613456 DOID:0081047 Orphanet:306542" @@ -54759,7 +54759,7 @@ "Myopathy due to calsequestrin and SERCA1 protein overload is characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms." "OMIM:616231 Orphanet:88635 MEDGEN:864061 SCTID:724095006 UMLS:C4015624 GARD:16770" "GARD:17746 Orphanet:440427 UMLS:C4225400 MEDGEN:895551 OMIM:615486" "OMIM:300858" - "A gammaherpesvirus that contributes to the development of Kaposi sarcoma." "NCIT:C39291 MedDRA:10066435 MONDO:0005187 UMLS:C1512508 NCIt:C39291 MEDGEN:268211" + "A gammaherpesvirus that contributes to the development of Kaposi sarcoma." "MedDRA:10066435 NCIT:C39291 MONDO:0005187 UMLS:C1512508 NCIt:C39291 MEDGEN:268211" "An instance of deficiency anemia that is acquired during the lifetime of the individual." "Orphanet:248302 UMLS:C5680693 MEDGEN:1842907" "Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" "OMIM:193510 OMIM:611584 ICD10:E70.3 MeSH:C536463 OMIM:608890 UMLS:C2700265 OMIM:606662 OMIM:600193" "A long bone is a bone that has a shaft and 2 ends and is longer than it is wide. Long bones have a thick outside layer of compact bone and an inner medullary cavity containing bone marrow. The ends of a long bone contain spongy bone and an epiphyseal plate or line depending on the stage of development. The epiphyseal plate is a hyaline cartilage, where new bone growth takes place, lengthening the bone prior to adulthood. Bone lengthening ceases when this cartilage is lost, leaving a remnant referred to as an epiphyseal line." "Wikipedia:Long_bone NCIT:C33003 galen:LongBone SCTID:332709000 BTO:0004256 MA:0002802 UMLS:C0222647 FMA:7474 EMAPA:35503" @@ -55601,7 +55601,7 @@ "Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions." "UMLS:C0206614 DOID:3533 MESH:D018185 MeSH:D018185 MONDO:0005857 MEDGEN:61642" - "A parasitic helminthiasis infectious disease that involves the intestine." "MESH:C531698 SCTID:26249004 MEDGEN:87591 UMLS:C0348287" + "A parasitic helminthiasis infectious disease that involves the intestine." "MESH:C531698 MEDGEN:87591 SCTID:26249004 UMLS:C0348287" "X-linked mental retardation, Schimke type, is characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked." "OMIM:312840 UMLS:C1839320 GARD:9288 MEDGEN:374193 MESH:C536630 Orphanet:85285 SCTID:719010001" "Orphanet:73271 GARD:16691" "Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border." "SCTID:80432009 ICD9:757.39 UMLS:C0949506 GARD:4438 Orphanet:735 MEDGEN:181842" @@ -55801,7 +55801,7 @@ "Quantification of the ratio of cholesterol to total lipids in a sample." "PMID:35213538" "The part of the axis of a plant embryo or seedling below the cotyledon." "MeSH:D018546 BTO:0000613 PO:0020100" "Stanescu type dysostosis is a rare form of osteosclerosis." "GARD:2016 OMIM:122900 Orphanet:1798 UMLS:C0432263 SCTID:254124008 MESH:C562974 MEDGEN:140931" - "An internal pocketing of pharyngeal endoderm that contacts a region of ectoderm (a pharyngeal cleft) and interdigitates in the anterior and posterior directions with the pharyngeal arches." "EMAPA:32752 EHDAA:617 EHDAA:1669 Wikipedia:Pharyngeal_pouch_(embryology) SCTID:34674002 ZFA:0001106 VHOG:0001203 EFO:0003627 XAO:0000282 NCIT:C34252 TAO:0001106 AAO:0011113 EHDAA:579 UMLS:C0231067 FMA:293063 EHDAA:1086" + "An internal pocketing of pharyngeal endoderm that contacts a region of ectoderm (a pharyngeal cleft) and interdigitates in the anterior and posterior directions with the pharyngeal arches." "EHDAA:1086 EMAPA:32752 EHDAA:617 EHDAA:1669 Wikipedia:Pharyngeal_pouch_(embryology) SCTID:34674002 ZFA:0001106 VHOG:0001203 EFO:0003627 XAO:0000282 NCIT:C34252 TAO:0001106 AAO:0011113 EHDAA:579 UMLS:C0231067 FMA:293063" "UMLS:C0339186 MedDRA:10080291" "A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus." "UMLS:C1456781 NCIT:C7571 MEDGEN:264151" @@ -56025,7 +56025,7 @@ "The determination of the amount of complement C3D fragment in a sample" "PMID:28240269" "The amount of a heparan sulfate glucosamine 3-O-sulfotransferase 5 when measured in blood serum." "Any of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Eosinophils are CD9-positive, CD191-positive, and CD193-positive." "NCIt:C12532 CALOHA:TS-0279 FMA:62861 SNOMEDCT:14793004 MeSH:D004804 BTO:0000399 MESH:D004804" - "Quantification of the amount of cholestryl ester transfer protein in a sample, typically serum." "PMID:29728394 https://en.wikipedia.org/wiki/Cholesterylester_transfer_protein" + "Quantification of the amount of cholestryl ester transfer protein in a sample, typically serum." "https://en.wikipedia.org/wiki/Cholesterylester_transfer_protein PMID:29728394" "quantification of some aspect of facial width, such a the cranial base width" "PMID:27560520" "OMIM:614171 ICD10:E70.3" @@ -56080,7 +56080,7 @@ "Quantification of the amount of 2-aminooctanoate in a sample." "PMID:35347128" "The portion of the primary root including the meristem and root cap." - "A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis" "MONDO:0006042 MedDRA:10027190 Orphanet:499004 NORD:1437 NCIt:C84888 SCTID:58437007 MEDGEN:21725 GARD:7828 NCIT:C84888 UMLS:C0041318 MESH:D014390" + "A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis" "MONDO:0006042 MedDRA:10027190 Orphanet:499004 NORD:1437 NCIt:C84888 SCTID:58437007 MEDGEN:21725 NCIT:C84888 GARD:7828 UMLS:C0041318 MESH:D014390" "ICD10:E77.1 OMIM:256550 OMIM:256150" "A CD38-positive IgG-negative memory B cell is an IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD38-positive and IgG-negative." @@ -56534,7 +56534,7 @@ "An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells." "DOID:5280 SCTID:447785000 NCIT:C27200 UMLS:C0744295 HP:0031025 MEDGEN:196652" "The amount of a zinc fingers and homeoboxes protein 1 when measured in blood serum." "The amount of a butyrophilin subfamily 3 member A2 when measured in blood serum." - "Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm." "ICD9:093.1 MeSH:D013589 SNOMEDCT:20735004 MEDGEN:364 SCTID:20735004 ICD10CM:A52.02 MedDRA:10042900 DOID:11582 ICD10:A52.02 MONDO:0006992 UMLS:C0003511" + "Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm." "ICD9:093.1 MeSH:D013589 SNOMEDCT:20735004 MEDGEN:364 SCTID:20735004 ICD10CM:A52.02 MedDRA:10042900 DOID:11582 MONDO:0006992 ICD10:A52.02 UMLS:C0003511" "Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium." "SNOMEDCT_US:111287006 Fyler:1161 UMLS:C0040961" "Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare." "MONDO:0005819 NCIT:C26895 ICD9:012.31 MeSH:D014387 SCTID:70341005 ICD9:012.3 ICD9:012.32 MEDGEN:11945 MESH:D014387 ICD9:012.30 DOID:1583 UMLS:C0041315" "An aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group." "Beilstein:1910407 PMID:22264337 Reaxys:1910407 MeSH:D010649 Wikipedia:Phenylalanine SNOMEDCT:63004003 CAS:150-30-1 SNOMEDCT:421626005 KEGG COMPOUND:C02057 ChemIDplus:150-30-1 NCIt:C29601 PMID:17439666 NIST Chemistry WebBook:150-30-1 KEGG:C02057 Gmelin:50836" @@ -56676,7 +56676,7 @@ "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vincristine stimulus." "Quantification of podocalyxin in a sample." "PMID:29875488" "The amount of a Ras-related protein Rab-3A when measured in blood serum." - "A nerve that supplies the upper limb, including the triceps brachii muscle of the arm, as well as all 12 muscles in the posterior osteofascial compartment of the forearm, as well as the associated joints and overlying skin." "MA:0001171 VHOG:0000896 EMAPA:17278 MESH:D011826 UMLS:C0034518 EHDAA:5650 NCIT:C52812 EHDAA2:0001584 FMA:37069 SCTID:181011002 GAID:845 Wikipedia:Radial_nerve" + "A nerve that supplies the upper limb, including the triceps brachii muscle of the arm, as well as all 12 muscles in the posterior osteofascial compartment of the forearm, as well as the associated joints and overlying skin." "Wikipedia:Radial_nerve MA:0001171 VHOG:0000896 EMAPA:17278 MESH:D011826 UMLS:C0034518 EHDAA:5650 NCIT:C52812 EHDAA2:0001584 FMA:37069 SCTID:181011002 GAID:845" "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13." "DOID:0110003" "The determination of the amount of protein set in a sample" "PMID:28240269" @@ -57539,7 +57539,7 @@ "The amount of a Schlafen-like protein 1 when measured in blood serum." "The amount of a phospholipase A and acyltransferase 3 when measured in blood serum." "SNOMEDCT:414831009" - "An eyelid cyst caused by the blockage of a meibomian gland." "MEDGEN:869 MedDRA:10027134 ICD10CM:H00.1 MONDO:0005844 ICD9:373.2 SCTID:1482004 UMLS:C0007933 NCIT:C26717 MeSH:D017043 MESH:D017043 DOID:9903" + "An eyelid cyst caused by the blockage of a meibomian gland." "MedDRA:10027134 ICD10CM:H00.1 MONDO:0005844 ICD9:373.2 SCTID:1482004 UMLS:C0007933 NCIT:C26717 MeSH:D017043 MESH:D017043 DOID:9903 MEDGEN:869" "Neuromast that is part of the infraorbital lateral line. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)." "ZFA:0000813" "The determination of the amount of protein amnionless in a sample" "PMID:28240269" "A neoplasm (disease) that involves the adipose tissue." "MEDGEN:61646 ICD9:239.2 SCTID:254831005 UMLS:C0206631 NCIT:C4248" @@ -57590,7 +57590,7 @@ "Quantification of phospholipase D3 in a sample." "PMID:29875488" "C57BL/6J is a mouse strain as described in Jackson Laboratory http://phenome.jax.org/db/q?rtn=strains/details&strainid=7" "NIFSTD:birnlex_393" "A doubly-charged N-acyl-L-alpha-amino acid anion resulting from deprotonation of both carboxy groups of N-acetyl-L-aspartic acid." "PMID:12718449 PMID:16524379 MetaCyc:CPD-420 PMID:18835755 PMID:19531109 PMID:20421982 PMID:19091459 PMID:4377221 PMID:19850131 PMID:18002959 PMID:18355643 Gmelin:2250815 PMID:17190852 PMID:15836629 PMID:20398713 PMID:18293939 KEGG:C01042 PMID:14645985" - "Inflammation of the colon that is only apparent by microscopic examination." "MeSH:D046728 DOID:60182 Orphanet:58220 MedDRA:10056979 UMLS:C0400821 SNOMEDCT:235753003 SCTID:235753003 MONDO:0000702 NCIT:C38504 DOID:0060182 NCIt:C38504 MEDGEN:98005 ICD9:558.9 ORDO:Orphanet_58220 MESH:D046728" + "Inflammation of the colon that is only apparent by microscopic examination." "MeSH:D046728 DOID:60182 Orphanet:58220 MedDRA:10056979 UMLS:C0400821 SCTID:235753003 SNOMEDCT:235753003 MONDO:0000702 NCIT:C38504 DOID:0060182 NCIt:C38504 MEDGEN:98005 ICD9:558.9 ORDO:Orphanet_58220 MESH:D046728" "OMIM:300886" diff --git a/src/ontology/reports/edges.tsv b/src/ontology/reports/edges.tsv index b8c167a2..74ae4583 100644 --- a/src/ontology/reports/edges.tsv +++ b/src/ontology/reports/edges.tsv @@ -1,12568 +1,12568 @@ ?x ?p ?y - - - - - - - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid298488 - - - - - - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid271027 - - - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid272435 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid298208 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid293219 - - - - - - - - - - - - - - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid275594 - - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid274747 - - - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid278570 - - - - - 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@@ -74148,13 +74139,12 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid307549 - + @@ -74209,8 +74199,8 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -74257,7 +74247,6 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid31357 @@ -74266,6 +74255,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid353878 @@ -74294,6 +74284,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid293556 @@ -74348,6 +74339,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid322912 @@ -74384,7 +74376,6 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid320020 @@ -74420,8 +74411,8 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -74440,8 +74431,8 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -74458,6 +74449,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid318696 @@ -74504,8 +74496,8 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -74576,7 +74568,6 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid319452 @@ -74630,8 +74621,9 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid13316 @@ -74704,10 +74696,10 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - - + + @@ -74857,7 +74849,6 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid318748 @@ -74873,6 +74864,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid290465 @@ -74966,8 +74958,8 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -74995,7 +74987,6 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid318596 @@ -75007,8 +74998,8 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -75034,6 +75025,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid319652 @@ -75041,8 +75033,8 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -75058,6 +75050,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid319980 @@ -75093,13 +75086,13 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid319100 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid320684 @@ -75145,7 +75138,6 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid319928 @@ -75286,15 +75278,16 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid286979 - + @@ -75336,6 +75329,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid285724 @@ -75392,6 +75386,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid25306 @@ -75427,7 +75422,6 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid319796 @@ -75572,6 +75566,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid285844 @@ -75634,6 +75629,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid319956 @@ -75684,8 +75680,8 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -75767,11 +75763,10 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid319280 @@ -75845,7 +75840,6 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid320352 @@ -75861,9 +75855,9 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -75941,7 +75935,6 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid319968 @@ -75979,13 +75972,14 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid318804 @@ -76010,8 +76004,8 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -76087,8 +76081,8 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -76160,11 +76154,12 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid318600 - + @@ -76226,6 +76221,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid319596 @@ -76266,6 +76262,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid320400 @@ -76455,6 +76452,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid286225 @@ -76463,6 +76461,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid319496 @@ -76621,9 +76620,9 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + - @@ -76671,6 +76670,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid320504 @@ -76774,8 +76774,8 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -76834,8 +76834,8 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -76853,7 +76853,6 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid25306 @@ -76933,13 +76932,12 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid320660 @@ -76996,6 +76994,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid320980 @@ -77066,6 +77065,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid320636 @@ -77078,11 +77078,11 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + - - + @@ -77163,7 +77163,6 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid318872 @@ -77178,8 +77177,8 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -77214,9 +77213,9 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid319240 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid319428 @@ -77272,7 +77271,6 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid287306 @@ -77366,7 +77364,6 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid320612 @@ -77392,7 +77389,6 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid297703 @@ -77487,13 +77483,13 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid319328 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid318544 @@ -77527,6 +77523,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid318472 @@ -77674,6 +77671,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid319480 @@ -77752,8 +77750,8 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -77868,7 +77866,6 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid287480 @@ -77888,8 +77885,8 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -78036,6 +78033,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid26307 @@ -78224,8 +78222,8 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -78245,6 +78243,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid318940 @@ -78275,8 +78274,8 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - + @@ -78297,6 +78296,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid318508 @@ -78322,6 +78322,7 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 + _:B8575e544X2D2d62X2D4b91X2D9383X2D6840076de0f2genid319268 @@ -78342,7 +78343,6 @@ _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid354250 - _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid9576 diff --git a/src/ontology/reports/synonyms.tsv b/src/ontology/reports/synonyms.tsv index bfd0ca75..5eee4a8d 100644 --- a/src/ontology/reports/synonyms.tsv +++ b/src/ontology/reports/synonyms.tsv @@ -5,9 +5,9 @@ "obsolete_neurometabolic disorder due to serine deficiency" "small integral membrane protein 9 measurement" "HEC1A" - "rho-associated protein kinase 2 measurement" - "obsolete_Pilotto syndrome" "obsolete_zygodactyly type 2" + "obsolete_Pilotto syndrome" + "rho-associated protein kinase 2 measurement" "Nestor-Guillermo progeria syndrome" "vitamin measurement" "KYSE-520" @@ -32,10 +32,10 @@ "T2" "cadherin-2 measurement" "level of importin subunit alpha-6 in blood serum" + "obsolete_osteomesopyknosis" "Autosomal dominant spastic paraplegia type 3" "radiation pneumonitis" "metabolic syndrome X" - "obsolete_osteomesopyknosis" "level of nucleosome-remodeling factor subunit BPTF in blood serum" "pancreas lymphoma" "sorting nexin-8" @@ -92,8 +92,8 @@ "Basal epidermolysis bullosa simplex" "non-acquired combined pituitary hormone deficiency" "nemaline myopathy 9" - "level of chitinase-3-like protein 1 in blood serum" "obsolete_pharynx" + "level of chitinase-3-like protein 1 in blood serum" "Congenital disorder of glycosylation with developmental anomaly" "Carcinus maenas" "splicing factor ESS-2 homolog" @@ -202,8 +202,8 @@ "level of endophilin-B2 in blood serum" "desmoid tumor caused by somatic mutation" "protocadherin-9 measurement" - "Hyperconvex toenail" "temporal lobe volume measurement" + "Hyperconvex toenail" "level of V-set and immunoglobulin domain-containing protein 8 in blood serum" "euploid" "mitotic-spindle organizing protein 1 measurement" @@ -225,8 +225,8 @@ "placode" "CEL-seq" "tumor necrosis factor beta measurement" - "retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies" "obsolete_ADULT syndrome" + "retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies" "obsolete_Renpenning syndrome" "CS57660" "temporal pole volume measurement"@en @@ -357,11 +357,11 @@ "external ear basal cell carcinoma" "Saccharomyces cerevisiae" "proteostasis deficiencies" + "Autosomal dominant spastic paraplegia type 12" "1-linoleoylglycerophosphocholine measurement" "level of keratin, type I cuticular Ha4 in blood serum" "platelet activation" "limited iron regimen" - "Autosomal dominant spastic paraplegia type 12" "congenital fibrosarcoma" "complement component C1s deficiency" "accelerated phase myeloid leukemia" @@ -381,8 +381,8 @@ "arterial disorder" "cerebral cortical dysplasia" "Pigmentation disorder with eye involvement, excluding albinism" - "beta-defensin 116 measurement" "Abnormal mitochondria in muscle tissue" + "beta-defensin 116 measurement" "dysmorphism-cleft palate-loose skin syndrome" "Geospiza scandens" "cystathioninuria" @@ -410,8 +410,8 @@ "adenoid cystic carcinoma of oropharynx" "obsolete_KID syndrome" "obsolete_Wilms tumor (bis)" - "cadherin-related family member 5 measurement" "CCL11 measurement" + "cadherin-related family member 5 measurement" "CS57751" "dermatitis, atopic, 2" "retinal dystrophy with or without macular staphyloma" @@ -444,9 +444,9 @@ "regulator of G-protein signaling 5" "Granular Cell Tumor" "obsolete_autosomal recessive ataxia, Beauce type" - "obsolete_congenital deformities of limbs" "obsolete_Ectodermal dysplasia, Berlin type" "level of TBC1 domain family member 25 in blood serum" + "obsolete_congenital deformities of limbs" "uveal cancer" "hexose measurement" "Ichthyophthirius multifiliis" @@ -502,19 +502,19 @@ "orofaciodigital syndrome type 13" "6q terminal deletion syndrome" "albinism" - "bronchioloalveolar carcinoma" "level of cell adhesion molecule DSCAML1 in blood serum" + "bronchioloalveolar carcinoma" "ganglioneuroblastoma" "synthetic construct" "level of methylmalonyl-CoA epimerase, mitochondrial in blood serum" "camptobrachydactyly" "X-linked dominant chondrodysplasia punctata" "cyclin-dependent kinase 2-associated protein 1 measurement" + "baculoviral IAP repeat-containing protein 5 measurement" "halothane" "6p22 microdeletion syndrome" "echovirus infectious disease" "vacuolar protein sorting-associated protein 29" - "baculoviral IAP repeat-containing protein 5 measurement" "level of 40S ribosomal protein S4, X isoform in blood serum" "Hemoglobin C to Total Hemoglobin Ratio Measurement" "Abnormal gastrointestinal vascular morphology" @@ -557,8 +557,8 @@ "obsolete_Charcot-Marie-Tooth disease type 1" "Familial hypocalciuric hypercalcemia type 2" "R1" - "Dental ankylosis" "glandular cell neoplasm" + "Dental ankylosis" "gram per kilogram per day" "level of GrpE protein homolog 1, mitochondrial in blood serum" "vulvar alveolar soft part sarcoma" @@ -734,9 +734,9 @@ "poliovirus receptor" "nervous system injury" "Brunet-Wagner neurodevelopmental syndrome" + "ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder" "sample collection protocol" "cyclic AMP-dependent transcription factor ATF-6 alpha measurement" - "ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder" "obsolete_amyloidosis cutis dyschromia" "familial intrahepatic cholestasis" "cadherin-3 measurement" @@ -774,9 +774,9 @@ "vagal ganglion 4" "craniometadiaphyseal osteosclerosis with hip dysplasia" "obsolete_cardiac atrium" - "Ptosis - strabismus - ectopic pupils" "nuclear receptor coactivator 2 measurement" "deformed epidermal autoregulatory factor 1" + "Ptosis - strabismus - ectopic pupils" "migraine, familial hemiplegic, 1" "phenacetin" "Aplasia cutis congenita - intestinal lymphangiectasia" @@ -816,8 +816,8 @@ "hereditary vs non-hereditary etiology" "HepG3" "obsolete_PHACE syndrome" - "Foveal hypoplasia - presenile cataract" "NCI-H157" + "Foveal hypoplasia - presenile cataract" "Quartz-seq" "suicide behaviour" "basic leucine zipper transcriptional factor ATF-like 3" @@ -840,8 +840,8 @@ "poliovirus seropositivity" "phosphatidylcholine diacyl C34:1 measurement" "dirofilariasis" - "CBA/CaJ" "level of Phosphatidylethanolamine (18:0_0:0) in blood serum" + "CBA/CaJ" "Crane-Heise syndrome" "CD8_alpha-positive plasmacytoid dendritic cell" "antenatal Bartter syndrome"@en @@ -854,8 +854,8 @@ "SIM1-related Prader-Willi-like syndrome" "isolated focal cortical dysplasia type IIa" "Skin Sarcoma" - "ER membrane protein complex subunit 4" "anosmin-1 measurement" + "ER membrane protein complex subunit 4" "appendix carcinoma" "response to belimumab" "cognition" @@ -912,8 +912,8 @@ "X-17010 measurement" "level of Gly-Pro in blood" "myoblast" - "obsolete_Pendred syndrome" "obsolete_iminoglycinuria" + "obsolete_Pendred syndrome" "Kc" "obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess" "EEG with abnormally slow frequencies" @@ -953,8 +953,8 @@ "amphiregulin measurement" "digit length ratio" "mean reticulocyte volume"@en - "amelocerebrohypohidrotic syndrome" "Val cell" + "amelocerebrohypohidrotic syndrome" "NADH-cytochrome b5 reductase 2" "level of beta-defensin 129 in blood serum" "otospondylomegaepiphyseal dysplasia, autosomal recessive" @@ -1008,8 +1008,8 @@ "popliteal artery" "homeobox protein HMX3" "multiple epiphyseal dysplasia, Beighton type" - "level of ribosome-binding protein 1 in blood serum" "external ear carcinoma" + "level of ribosome-binding protein 1 in blood serum" "level of N-acetylgalactosamine kinase in blood serum" "dihomo-linoleoylcarnitine (C20:2) measurement" "GDNF family receptor alpha-like measurement" @@ -1042,13 +1042,13 @@ "level of long-chain fatty acid transport protein 2 in blood serum" "age of onset of allergic disease" "body proper" - "bone morphogenetic protein 3B" "Ectodermal malformation syndrome associated with ocular features" + "bone morphogenetic protein 3B" "Pinctada maxima" "obsolete_morning glory syndrome" "developmental delay with dysmorphic facies and dental anomalies" - "Troyer syndrome" "transmembrane protease serine 5 measurement" + "Troyer syndrome" "C3-DC-CH3 carnitine measurement" "lanthionine measurement" "obsolete_oxoglutaricaciduria" @@ -1060,9 +1060,9 @@ "level of clusterin-like protein 1 in blood serum" "arterial embolism" "Zaki syndrome" - "obsolete_Progressive epilepsy and/or ataxia with myoclonus as a major feature" "Bowing of the legs" "level of keratin, type II cytoskeletal 5 in blood serum" + "obsolete_Progressive epilepsy and/or ataxia with myoclonus as a major feature" "Cataract - ataxia - deafness" "Acrodynia" "level of DnaJ homolog subfamily B member 2 in blood serum" @@ -1072,15 +1072,15 @@ "macrophage activation" "pro-neuregulin-1, membrane-bound isoform" "GM12872" + "obsolete_Kallmann syndrome" "MESSA" "respiratory quotient" - "obsolete_Kallmann syndrome" "interleukin (Homo sapiens)" + "sialidosis type II" "obsolete_congenital genu recurvatum" "GM17116" - "aceruloplasminemia" "SPLiT-seq" - "sialidosis type II" + "aceruloplasminemia" "chilblain lupus 1" "ichthyosis-cheek-eyebrow syndrome" "lacrimal gland" @@ -1135,9 +1135,9 @@ "bromobenzene" "uveitis" "postprandial hyperlipidemia" - "2-methoxyhydroquinone glucuronide (2) measurement" "lavage"@en "lavage" + "2-methoxyhydroquinone glucuronide (2) measurement" "Seckel syndrome" "calsyntenin-3" "PRO-seq" @@ -1261,9 +1261,9 @@ "NCI-H1703" "temporal arteritis" "protein deglycase DJ-1 measurement" + "Ile-Val" "immunodeficiency 69" "cellular component organization" - "Ile-Val" "Primary Melanocytic Lesion of Meninges" "Breast Mucosa-Associated Lymphoid Tissue Lymphoma" "achondrogenesis" @@ -1280,8 +1280,8 @@ "Hypoammonemia" "transmembrane protein 132B" "atypical choroid plexus papilloma" - "transcription elongation factor A protein-like 5" "epigenetic status" + "transcription elongation factor A protein-like 5" "Methylobacterium extorquens" "Pyloric Gland Adenoma" "obsolete_Cockayne syndrome type 3" @@ -1326,11 +1326,11 @@ "latissimus dorsi" "cryopyrin-associated periodic syndrome" "heterotaxy, visceral, 5, autosomal" + "obsolete_non-distal trisomy 13q" "patched domain-containing protein 3" "potassium voltage-gated channel subfamily F member 1 measurement" "X-11374 measurement" "cholesterol esters in large HDL measurement" - "obsolete_non-distal trisomy 13q" "HT144" "level of beta-galactoside alpha-2,6-sialyltransferase 1 in blood serum" "DnaJ homolog subfamily C member 12" @@ -1390,8 +1390,8 @@ "dimethylglycine measurement"@en "ventricular septal defect 1" "late embryonic stage" - "Cone rod dystrophy" "1-carboxyethylleucine measurement" + "Cone rod dystrophy" "myoepithelial tumor" "tibial aplasia-ectrodactyly syndrome" "familial hemolytic anemia" @@ -1431,13 +1431,13 @@ "endometrial glandular epithelial cell"@en "epithelial tumor of colon" "Olmsted syndrome 1" + "obsolete_spinocerebellar ataxia type 25" "rat cell line" "vulvovaginitis" - "obsolete_spinocerebellar ataxia type 25" "putative caspase recruitment domain-containing protein 17P" "HBL-1 cell" - "fear of pain measurement" "HMEC1" + "fear of pain measurement" "blepharophimosis-ptosis-epicanthus inversus syndrome type 2" "restriction-site associated DNA sequencing" "suicide" @@ -1460,10 +1460,10 @@ "benign epithelial skin neoplasm" "protein unc-119 homolog B" "tolloid-like protein 1" - "obsolete_hereditary mixed polyposis syndrome" "peptidyl-prolyl cis-trans isomerase B measurement" - "methionine measurement" + "obsolete_hereditary mixed polyposis syndrome" "familial dilated cardiomyopathy" + "methionine measurement" "ADP-ribosylation factor 1" "level of glycine N-acyltransferase in blood serum" "obsolete_childhood-onset nemaline myopathy" @@ -1481,8 +1481,8 @@ "Renal juxtaglomerular cell hypertrophy/hyperplasia" "positive regulation of platelet aggregation" "Macropus eugenii" - "benign neoplasm of cerebrum" "small intestinal adenocarcinoma" + "benign neoplasm of cerebrum" "NCI-H1648" "antigen-presenting glycoprotein CD1d measurement" "peridontal microbiome" @@ -1507,14 +1507,14 @@ "core-binding factor subunit beta measurement" "intestinal pseudo-obstruction" "solute carrier family 41 member 2" - "level of interferon omega-1 in blood serum" "adult acute myeloid leukemia" + "level of interferon omega-1 in blood serum" + "respiratory syncytial virus seropositivity" "liver failure" - "GM14503" "Metabolic acidosis" + "GM14503" "S-sulfo-L-cysteine" "butyrophilin subfamily 3 member A3" - "respiratory syncytial virus seropositivity" "flavin adenine dinucleotide" "autosomal recessive axonal hereditary motor and sensory neuropathy"@en "multiple epiphyseal dysplasia" @@ -1599,11 +1599,11 @@ "mean platelet volume" "Gadus morhua" "endogenous retrovirus group V member 1 Env polyprotein" + "obsolete_spinocerebellar ataxia type 5" "microliter per liter" "obsolete_autosomal recessive Alport syndrome" - "obsolete_spinocerebellar ataxia type 5" - "obsolete_response to bleomycin" "obsolete_choroideremia" + "obsolete_response to bleomycin" "combined oxidative phosphorylation deficiency 45" "ribose phosphate biosynthetic process" "achalasia microcephaly syndrome" @@ -1620,10 +1620,10 @@ "obsolete_20p13 microdeletion syndrome" "NOF151" "endocarditis" - "obsolete_hippocampus CA2" - "Neurodegeneration" "free cholesterol in very large VLDL measurement " "organic cation measurement"@en + "obsolete_hippocampus CA2" + "Neurodegeneration" "HEY" "allergic rhinitis" "transmembrane protein 106A" @@ -1638,8 +1638,8 @@ "HUES65" "alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase measurement" "macular dystrophy with central cone involvement" - "obsolete_pontocerebellar hypoplasia type 1" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2J" + "obsolete_pontocerebellar hypoplasia type 1" "Bifid ribs" "interleukin 17 measurement" "biopsy" @@ -1713,9 +1713,9 @@ "mal de Meleda" "autosomal dominant hypocalcemia" "MYH7-related skeletal myopathy" + "GDP-fucose protein O-fucosyltransferase 1 measurement" "dihomo-linolenoylcarnitine (C20:3n3 or 6) measurement" "von Hippel-Lindau-like protein" - "GDP-fucose protein O-fucosyltransferase 1 measurement" "atypical hemolytic-uremic syndrome with thrombomodulin anomaly" "Monoamine oxidase A deficiency" "protein enabled" @@ -1758,8 +1758,8 @@ "N-methyltaurine measurement" "level of vesicle-associated membrane protein 7 in blood serum" "stearoyl-arachidonoyl-glycerophosphocholine (2) measurement" - "placental retention" "uterine disorder" + "placental retention" "NIH3T3" "disorder of lectin complement activation pathway" "level of aldo-keto reductase family 1 member C3 in blood serum" @@ -1886,9 +1886,9 @@ "GM17194" "mycosis fungoides and variants" "BPH-1" - "Autosomal recessive spastic paraplegia type 14" "gram per meter squared" "level of keratin, type II cytoskeletal 6A in blood serum" + "Autosomal recessive spastic paraplegia type 14" "dysplasia of cervix" "obsolete_congenital factor XI deficiency" "Cyanobacteria" @@ -1983,10 +1983,10 @@ "generalised epilepsy" "KP-2" "chromodomain Y-like protein 2" + "obsolete_septopreoptic holoprosencephaly" "Peripheral demyelination" "obsolete chronic acquired demyelinating polyneuropathy" "myoseptum" - "obsolete_septopreoptic holoprosencephaly" "obsolete_gastrocutaneous syndrome" "acute pyelonephritis" "Rectal Hyperplastic Polyp" @@ -2054,9 +2054,9 @@ "fructose measurement"@en "level of Sterol ester (27:1/18:0) in blood serum" "level of glutathione S-transferase mu 5 in blood serum" + "Lyme disease" "Delayed eruption of primary teeth" "level of IQ domain-containing protein F3 in blood serum" - "Lyme disease" "maturity-onset diabetes of the young type 10" "cytochrome P450" "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency" @@ -2156,8 +2156,8 @@ "Male infertility due to sperm motility disorder" "Periapical Periodontitis" "reading" - "GUIDE-seq" "obsolete_late-infantile/juvenile Krabbe disease" + "GUIDE-seq" "obsolete_shoulder" "heat shock 70 kDa protein 13" "X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature" @@ -2222,19 +2222,19 @@ "complement C1r subcomponent measurement" "level of myosin-binding protein C, slow-type in blood serum" "level of ubiquinone biosynthesis protein COQ7 in blood serum" - "trait in response to silicon dioxide" "26S proteasome non-ATPase regulatory subunit 6" - "ventricular septal defect 3" + "trait in response to silicon dioxide" "histone deacetylase 4" + "ventricular septal defect 3" "Charcot-Marie-Tooth disease" "breast-ovarian cancer, familial, susceptibility to, 5" "retrocochlear disease" "dentinogenesis imperfecta" "level of SH3 and multiple ankyrin repeat domains protein 1 in blood serum" "vasoconstrictor agent" + "obsolete_pityriasis rubra pilaris" "level of putative uncharacterized protein TXNRD3NB in blood serum" "X-12040 measurement" - "obsolete_pityriasis rubra pilaris" "L-Glutamine measurement" "nonanoylcarnitine (C9) measurement" "autosomal recessive hypophosphatemic rickets" @@ -2244,12 +2244,12 @@ "OUMS-23" "leukocyte cell-derived chemotaxin 1 measurement" "obsolete_AICA-ribosiduria" + "TruDrop" "illuminance unit" "level of protein canopy homolog 4 in blood serum" "differential expression analysis data transformation"@en "differential expression analysis data transformation" "level of enoyl-CoA hydratase, mitochondrial in blood serum" - "TruDrop" "cardiac arrest" "Rauch-Steindl syndrome" "Disorder of phenylalanin or tyrosine metabolism" @@ -2295,8 +2295,8 @@ "epilepsy, idiopathic generalized, susceptibility to, 6" "level of protein Frey in blood serum" "Rat-1" - "Wernicke encephalopathy" "lymphoma or leukaemia cell line" + "Wernicke encephalopathy" "2-nitrotoluene" "UPF0561 protein C2orf68" "Paramecium bursaria Chlorella virus 1" @@ -2308,8 +2308,8 @@ "azoospermia" "congenital hydronephrosis" "hi-CLIP" - "naphthyl-keratin adduct measurement" "pyruvate dehydrogenase complex" + "naphthyl-keratin adduct measurement" "GM2-ganglioside accumulation" "Fibular aplasia - ectrodactyly" "chromatid break measurement" @@ -2415,9 +2415,9 @@ "Indian hedgehog protein" "STATseq" "mitochondrial dna depletion syndrome 16B (neuroophthalmic type)" + "malate dehydrogenase, cytoplasmic measurement" "tubular aggregate myopathy" "level of syntaxin-2 in blood serum" - "malate dehydrogenase, cytoplasmic measurement" "Megalocornea" "epidermal growth factor-like protein 6" "villin-1" @@ -2440,8 +2440,8 @@ "RELT-like protein 1 measurement" "omega-6 polyunsaturated fatty acid change measurement" "FL.02 1/2 of flowers open stage" - "endometrium neoplasm" "48,XXYY syndrome" + "endometrium neoplasm" "systemic mastocytosis" "histone H2A type 3 measurement" "superficial epidermolytic ichthyosis" @@ -2459,8 +2459,8 @@ "level of histidyl-tRNA synthetase, cytoplasmic in blood serum" "level of ADP-ribosylation factor-like protein 4D in blood serum" "penis" - "cutaneous Paget disease" "Disorder of ornithine metabolism" + "cutaneous Paget disease" "obsolete_NIH3T3-L1" "aneuploidy" "obsolete_posterior lateral line ganglion" @@ -2469,8 +2469,8 @@ "obsolete_congenital hereditary endothelial dystrophy type I" "nicotinic acid mononucleotide measurement" "oculocutaneous albinism" - "pulmonary alveolar microlithiasis" "natural T-regulatory cell" + "pulmonary alveolar microlithiasis" "level of glycogen phosphorylase, liver form in blood serum" "obsolete_hippocampus CA3" "orotic acid measurement"@en @@ -2480,8 +2480,8 @@ "obsolete_Mobius syndrome" "Leber congenital amaurosis 10" "Immunodeficiency due to absence of thymus" - "calcyclin-binding protein measurement" "blood cell (sensu Nematoda and Protostomia)" + "calcyclin-binding protein measurement" "Mitchell syndrome" "level of heparan sulfate glucosamine 3-O-sulfotransferase 1 in blood serum" "interleukin 17 receptor A measurement" @@ -2566,8 +2566,8 @@ "obsolete_somatosensory cortex" "Hand-Arm Vibration Syndrome" "level of visinin-like protein 1 in blood serum" - "tapasin-related protein measurement" "decenoylcarnitine measurement"@en + "tapasin-related protein measurement" "obsolete_gastrointestinal stromal tumor" "Malformation syndrome with connective tissue involvement" "G-protein coupled receptor 26" @@ -2634,8 +2634,8 @@ "obsolete_congenital deformities of fingers" "Entamoeba histolytica" "extensor tendons of finger anomalies" - "obsolete_metachromatic leukodystrophy, adult form" "natural killer cell activation" + "obsolete_metachromatic leukodystrophy, adult form" "myristoyl dihydrosphingomyelin (d18:0/14:0) measurement" "anterior lateral line placode" "melanoma, cutaneous malignant, susceptibility to, 9" @@ -2645,13 +2645,13 @@ "level of protein GUCD1 in blood serum" "phosphatidylinositol transfer protein beta isoform measurement" "partial androgen insensitivity syndrome" - "obsolete_paroxysmal dyskinesia" "obsolete_pure or complex X-linked spastic paraplegia" + "obsolete_paroxysmal dyskinesia" + "Primary Pulmonary Diffuse Large B-Cell Lymphoma" "cone-rod synaptic disorder syndrome, congenital nonprogressive" "[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1; mitochondrial measurement" "lung volume" "erythrocyte galactose epimerase deficiency" - "Primary Pulmonary Diffuse Large B-Cell Lymphoma" "Calcifying Fibrous Tumor" "adult pineal parenchymal tumor" "interferon alpha-14 measurement" @@ -2688,9 +2688,9 @@ "lethal recessive chondrodysplasia" "obsolete_synovial membrane" "obsolete synapse part" + "childhood acute monocytic leukemia" "tonsillar ring" "Venous thrombosis" - "childhood acute monocytic leukemia" "level of immunoglobulin heavy constant gamma 4 in blood serum" "level of Axin-2 in blood serum" "functional laterality" @@ -2843,8 +2843,8 @@ "obsolete_Usher syndrome" "obsolete_mucopolysaccharidosis type 4A" "autoimmune encephalitis" - "Distal hereditary motor neuropathy type 5" "corneal hysteresis" + "Distal hereditary motor neuropathy type 5" "leukocyte cell-derived chemotaxin-2" "bird disease" "level of SUN domain-containing protein 3 in blood serum" @@ -2853,8 +2853,8 @@ "obsolete_Laryngeal dyskinesia" "COLO 699" "orbital plasma cell granuloma" - "obsolete_potassium-aggravated myotonia" "hypodermyiasis" + "obsolete_potassium-aggravated myotonia" "ADP-ribosylation factor 4" "level of cytohesin-3 in blood serum" "obsolete_pseudohypoparathyroidism type 1C" @@ -2874,21 +2874,21 @@ "microtubule-associated protein RP/EB family member 3" "Perimeningeal Infections" "Ataxia - hypogonadism - choroidal dystrophy" - "2-linoleoylglycerophosphocholine measurement" "hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome" + "2-linoleoylglycerophosphocholine measurement" "Abnormal skin morphology" "HELP-Seq" "obsolete_elbow" "CD34-positive, GlyA-negative erythroid progenitor cell" + "obsolete_Wilson disease" "obsolete_ALG1-CDG" "POU domain, class 2, transcription factor 1 measurement" "SNP array" "pemphigus herpetiformis" "protein kish-B" "chromosome 19p13.13 deletion syndrome" - "obsolete_Wilson disease" - "forkhead box protein C2" "huH-1" + "forkhead box protein C2" "ubiquitin carboxyl-terminal hydrolase 2" "level of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 in blood serum" "vasoactive intestinal peptide measurement" @@ -3051,8 +3051,8 @@ "adult T acute lymphoblastic leukemia" "classic lissencephaly" "ceramide synthase 5" - "general transcription factor II-I measurement" "Strabismus" + "general transcription factor II-I measurement" "IgG disialylation measurement" "level of cytochrome c oxidase assembly protein COX19 in blood serum" "glycogen storage disease due to muscle beta-enolase deficiency" @@ -3060,8 +3060,8 @@ "Abnormal caudate nucleus morphology" "level of SH3 and multiple ankyrin repeat domains protein 3 in blood serum" "Streptomyces clavuligerus" - "putative apolipoprotein(a)-like protein 2 measurement" "level of Gamma-glutamyl-Lysine in blood" + "putative apolipoprotein(a)-like protein 2 measurement" "lower urinary tract symptom" "level of E3 ubiquitin-protein ligase HECTD3 in blood serum" "level of NKG2-A/NKG2-B type II integral membrane protein in blood serum" @@ -3078,9 +3078,9 @@ "obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease" "cyproheptadine hydrochloride (anhydrous)" "renal efferent arteriole" - "Disorder of purine metabolism" "necrotizing enterocolitis" "Trialeurodes vaporariorum" + "Disorder of purine metabolism" "dorsal root ganglion" "obsolete_isolated oxidative phosphorylation complex disorder" "proline-rich protein 15" @@ -3116,8 +3116,8 @@ "CEL-seq2" "oxaloacetic acid" "obsolete_syndromic microphthalmia" - "Penile Carcinoma" "immune deficiency, familial variable" + "Penile Carcinoma" "Respiratory insufficiency due to muscle weakness" "neurodevelopmental disorder with visual defects and brain anomalies" "complete blood cell count" @@ -3134,10 +3134,10 @@ "very low-density lipoprotein receptor" "coiled-coil domain-containing protein 90B, mitochondrial" "butyrophilin subfamily 2 member A2" - "thymus hyperplasia" "GATA2 deficiency with susceptibility to MDS/AML" "dyskeratosis congenita and related telomere biology disorder" "level of defensin beta 136 in blood serum" + "thymus hyperplasia" "(R)-2-hydroxyoctadecanoate" "coagulation factor XI" "trisomy" @@ -3148,11 +3148,11 @@ "skin carcinoma in situ" "ephrin type-b receptor 6 measurement" "obsolete_hippocampus CA4" + "obsolete_partial deletion of the long arm of chromosome 2" "oxalate measurement"@en "neuropathy, hereditary sensory and autonomic, type IId" "Delayed closure of the anterior fontanelle" "obsolete_ventral midline glia" - "obsolete_partial deletion of the long arm of chromosome 2" "intrahepatic bile duct adenoma" "cytosolic phospholipase A2" "mean fractional anisotropy measurement" @@ -3203,9 +3203,9 @@ "squamous cell breast carcinoma" "3-carboxy-4-methyl-5-propyl-2-furanpropanoate" "RWD domain-containing protein 4" + "dodecanoylcarnitine measurement"@en "ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome" "Oryza sativa Japonica Group" - "dodecanoylcarnitine measurement"@en "Ras-related protein Rab-26" "Micrognathia" "Genetic syndrome with limb malformations as a major feature" @@ -3242,8 +3242,8 @@ "Dermatochalasis" "1-oleoylglycerophosphoethanolamine measurement" "obsolete_motor stereotypies" - "X-linked spastic paraplegia type 16" "level of cadherin-4 in blood serum" + "X-linked spastic paraplegia type 16" "level of EF-hand domain-containing protein D1 in blood serum" "beta-hexosaminidase subunit beta" "X-25802 measurement" @@ -3271,8 +3271,8 @@ "mismatch repair cancer syndrome 1" "four and a half LIM domains protein 1" "6-oxopiperidine-2-carboxylate measurement" - "iminoglycinuria" "Methylmalonic acidemia" + "iminoglycinuria" "phospholipase DDHD2" "PAC2" "1-stearoyl-2-dihomo-linolenoyl-GPC (18:0/20:3n3 or 6) measurement" @@ -3480,10 +3480,10 @@ "epithelial neoplasm" "CBL-related disorder" "methylmalonic acidemia" - "Tolchin-Le Caignec syndrome" "dual 3';5'-cyclic-AMP and -GMP phosphodiesterase 11A measurement" - "Familial esophageal achalasia" + "Tolchin-Le Caignec syndrome" "generalized galactose epimerase deficiency" + "Familial esophageal achalasia" "Calcifying Nested Epithelial Stromal Tumor of the Liver" "nucleoside diphosphate kinase B measurement" "level of ubiquitin-conjugating enzyme E2 R2 in blood serum" @@ -3497,9 +3497,9 @@ "fundus pulverulentus" "probable ATP-dependent RNA helicase DHX58 measurement" "Achenbach syndrome" + "benign neoplasm of ciliary body" "obsolete_epithelial cell of lung" "leptomeningeal melanoma" - "benign neoplasm of ciliary body" "obsolete_total spina bifida cystica" "obsolete_persistent hyperplastic primary vitreous" "obsolete_lateral cord glia" @@ -3623,19 +3623,19 @@ "adrenergic antagonist" "Cranial meningocele" "obsolete_brachyolmia-amelogenesis imperfecta syndrome" - "pityriasis rosea" "deoxycholic acid 3-sulfate measurement" + "pityriasis rosea" "Usher syndrome type 1" "Arabidopsis suecica" "Bile acid synthesis defect with cholestasis and malabsorption" "Macroptilium atropurpureum" "dematin" - "obsolete_isolated congenital ectropion" "carboxypeptidase D" - "Anonychia - onychodystrophy" + "obsolete_isolated congenital ectropion" "S2" "agnosia" "level of triglyceride in blood serum" + "Anonychia - onychodystrophy" "diacylglycerol 36:4 measurement" "TAmC-Seq" "inferior colliculus" @@ -3844,13 +3844,13 @@ "Listeria monocytogenes serotype 4b str. F2365" "tuberculoid leprosy" "trans-2-hexenoylglycine measurement" + "MERRF" "uterine corpus adenosarcoma" "Isolated cytochrome C oxidase deficiency" "abnormal paneth cell measurement" "mucin-16" "Rho-related GTP-binding protein RhoQ" "contracture" - "MERRF" "hereditary kidney oncocytoma" "myosin regulatory light chain 11" "vimentin-type intermediate filament-associated coiled-coil protein" @@ -3858,8 +3858,8 @@ "arhinia, choanal atresia, and microphthalmia" "angiopoietin-related protein 3 measurement" "magnesium measurement" - "184A1 cell" "neurocutaneous syndrome" + "184A1 cell" "level of density-regulated protein in blood serum" "obsolete_paternal uniparental disomy of chromosome 7" "protein phosphatase methylesterase 1" @@ -3997,9 +3997,9 @@ "obsolete_Ruvalcaba syndrome" "facial dysmorphism-immunodeficiency-livedo-short stature syndrome" "oxoadipic acid measurement" + "Bell's palsy" "cyclin-H" "hypervalinemia and hyperleucine-isoleucinemia" - "Bell's palsy" "Anterior synechiae of the anterior chamber" "phospholipase A and acyltransferase 3" "phospholipase B-like 1 measurement" @@ -4019,9 +4019,9 @@ "testican-2 measurement" "intestinal cancer" "peptidyl-prolyl cis-trans isomerase-like 1 measurement" + "Thiamine deficiency" "adenosine 5'-monophosphate" "monocyte-derived osteoclast" - "Thiamine deficiency" "level of dihydropyrimidinase-related protein 2 in blood serum" "chromosome 6q11-q14 deletion syndrome" "Pulmonic stenosis" @@ -4145,21 +4145,21 @@ "level of TNF receptor-associated factor 4 in blood serum" "ankrd1-related dilated cardiomyopathy"@en "lysosome membrane protein 2 measurement" - "neurodevelopmental disorder with microcephaly, seizures, and brain atrophy" "urinary system disease" + "neurodevelopmental disorder with microcephaly, seizures, and brain atrophy" "X-linked intellectual disability, Sutherland-Haan type" "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" "obsolete_snowflake vitreoretinal degeneration" - "ferulylglycine (2) measurement" "Dyspareunia" + "ferulylglycine (2) measurement" "RNA-binding protein 24" "posterior thigh muscle volume"@en "Sheldon-hall syndrome" "oxylipin" "striatonigral degeneration" - "progeroid features-hepatocellular carcinoma predisposition syndrome" "4-(4-Hydroxyphenyl)-2-butanol" "carpal tunnel syndrome" + "progeroid features-hepatocellular carcinoma predisposition syndrome" "MKN28" "glycine betaine" "spermatogenic failure 64" @@ -4167,9 +4167,9 @@ "level of U6 snRNA phosphodiesterase in blood serum" "level of insulin-induced gene 1 protein in blood serum" "dehydroepiandrosterone" + "obsolete rare genetic disorder with obstructive azoospermia" "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2" "lymphangioma" - "obsolete rare genetic disorder with obstructive azoospermia" "Choroidal atrophy - alopecia" "mitochondrial DNA depletion syndrome 19" "tryptophan metabolic process" @@ -4243,9 +4243,9 @@ "myopathy" "obsolete_ascending colon" "growth condition design" + "obsolete_familial isolated arrhythmogenic ventricular dysplasia, left dominant form" "microcephaly with lissencephaly and/or hydranencephaly" "bathing suit ichthyosis" - "obsolete_familial isolated arrhythmogenic ventricular dysplasia, left dominant form" "metastatic malignant neoplasm in the eye" "malignant cardiac germ cell tumor" "pre-mRNA-processing factor 6 measurement" @@ -4325,9 +4325,9 @@ "diacylglycerol 36:5 measurement" "beta-thalassemia HBB/LCRB" "free cholesterol in HDL measurement " - "Niemann-Pick disease type E" "umbilical vein" "Hyperphosphatemia" + "Niemann-Pick disease type E" "2,4-D" "Meckel syndrome" "level of Rho-related GTP-binding protein RhoC in blood serum" @@ -4347,7 +4347,6 @@ "extranodal nasal NK/T cell lymphoma" "Toll-like receptor 10" "COLO 800" - "pregnenediol disulfate (C21H34O8S2) measurement" "citalopram" "sperm motility measurement" "inclusion conjunctivitis" @@ -4355,6 +4354,7 @@ "diffuse type adenocarcinoma" "hemolytic anemia due to diphosphoglycerate mutase deficiency" "level of protein FAM171A2 in blood serum" + "pregnenediol disulfate (C21H34O8S2) measurement" "intercellular adhesion molecule 3 measurement" "Wheat streak mosaic virus" "CACNA1A-related complex neurodevelopmental disorder" @@ -4378,8 +4378,8 @@ "obsolete_X-linked syndromic intellectual disability" "facial attractiveness measurement" "ovarian cystic teratoma" - "phosphatidylinositol transfer protein beta isoform" "level of transcription factor HES-3 in blood serum" + "phosphatidylinositol transfer protein beta isoform" "hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2" "uterine corpus epithelioid leiomyoma" "leucine-rich repeat transmembrane protein FLRT2 measurement" @@ -4412,8 +4412,8 @@ "central retinal vein" "non-typhoidal Salmonella bacteremia" "blastic plasmacytoid dendritic cell neoplasm" - "developmental and epileptic encephalopathy 97" "obsolete_lethal occipital encephalocele-skeletal dysplasia syndrome" + "developmental and epileptic encephalopathy 97" "gliosarcoma" "Cutaneous Follicular Lymphoma" "non-syndromic limb reduction defect" @@ -4422,13 +4422,13 @@ "obsolete_hereditary sclerosing poikiloderma, Weary type" "GM17196" "obsolete_microform holoprosencephaly" - "Small Intestinal Intraepithelial Neoplasia" "alpha-mannosidosis, infantile form" + "Small Intestinal Intraepithelial Neoplasia" "combined low LDL and fibrinogen" "Aspergillus fumigatus" "obsolete_pectoral fin skeleton" - "2-palmitoylglycerophosphocholine measurement" "level of coiled-coil domain-containing protein 90B, mitochondrial in blood serum" + "2-palmitoylglycerophosphocholine measurement" "myopathy, distal, 7, adult-onset, X-linked" "heat shock-related 70 kDa protein 2" "syndromic X-linked intellectual disability Siderius type" @@ -4628,8 +4628,8 @@ "X-25937 measurement" "Edema of the dorsum of feet" "Choristoneura fumiferana" - "floor plate of midbrain" "low-density lipoprotein receptor-related protein 1; soluble measurement" + "floor plate of midbrain" "level of antigen-presenting glycoprotein CD1d in blood serum" "mediastinal schwannoma" "hMeDIP-seq" @@ -4661,9 +4661,9 @@ "autosomal dominant nonsyndromic hearing loss 3A" "OE21" "obsolete_Axenfeld anomaly" - "p-coumaroyl vitisin A measurement" - "rostral blood island" "epidermal growth factor receptor" + "rostral blood island" + "p-coumaroyl vitisin A measurement" "Arthroderma cajetani" "activated CD8-positive, alpha-beta T cell" "bone morphogenetic protein 15" @@ -4763,9 +4763,9 @@ "Immunodeficiency syndrome with hypopigmentation" "HCC0033" "obsolete_flag leaf" + "Medullary Cystic Kidney Disease Type I" "CME-W1-Cl.8+" "mimecan" - "Medullary Cystic Kidney Disease Type I" "level of a disintegrin and metalloproteinase with thrombospondin motifs 6 in blood serum" "psychosexual disorder" "ileum" @@ -4818,14 +4818,14 @@ "Illumina Genome Analyzer IIx standard manufacturer's protocol" "Cleft mandible" "Autosomal dominant spastic paraplegia type 19" + "empty sella syndrome" "cocaine" "level of cyclin-dependent kinase 2 in blood serum" - "empty sella syndrome" "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome" "protein HEXIM2" "Echinochloa glabrescens" - "docosapentaenoate (n6 DPA; 22:5n6) measurement" "BTB/POZ domain-containing protein KCTD6" + "docosapentaenoate (n6 DPA; 22:5n6) measurement" "phosphatidylcholine 38:7 measurement" "obsolete_neurofibromatosis" "T1 (174 x CEM.T1) cell" @@ -4837,14 +4837,14 @@ "frontotemporal dementia and/or amyotrophic lateral sclerosis" "Malignant hyperthermia" "obsolete_autosomal recessive cutis laxa type 2A" + "L-Saccharopine measurement" "vestibular disease" "cardiac valve" "vasculature of liver" "obsolete Impaired social interactions" "iPS-27e" - "L-Saccharopine measurement" - "Abnormal circulating thyroid hormone concentration" "WNT1-inducible-signaling pathway protein 1 measurement" + "Abnormal circulating thyroid hormone concentration" "obsolete fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency" "vasodilator agent" "pelvis-shoulder dysplasia" @@ -4928,8 +4928,8 @@ "obsolete_familial atrial myxoma" "level of palmitoyl-protein thioesterase 1 in blood serum" "obsolete_monocytopenia with susceptibility to infections" - "level of trans-3-hydroxy-L-proline dehydratase in blood serum" "optic cup area measurement" + "level of trans-3-hydroxy-L-proline dehydratase in blood serum" "galactosylceramidase activity" "Zymoseptoria tritici" "SDS-PAGE" @@ -4973,13 +4973,13 @@ "synaptic vesicle glycoprotein 2A" "alpha-1B-glycoprotein" "CDGSH iron-sulfur domain-containing protein 1" + "rheumatic fever" "multiple congenital anomalies-neurodevelopmental syndrome, X-linked" "dermatoosteolysis, Kirghizian type" - "rheumatic fever" "idiopathic acute transverse myelitis" "ribosome maturation protein sbds measurement" - "Vocal cord dysfunction" "Parkinson disease 13, autosomal dominant, susceptibility to" + "Vocal cord dysfunction" "energy intake" "obsolete_lethal infantile mitochondrial myopathy" "oxidized purine nucleoside triphosphate hydrolase" @@ -5020,9 +5020,9 @@ "reduced glutathione measurement" "interferon alpha-2 measurement" "level of thiopurine S-methyltransferase in blood serum" + "obsolete_Darier disease" "Small scrotum" "N2-acetyl,N6-methyllysine measurement" - "obsolete_Darier disease" "ribonuclease P protein subunit p25" "autosomal recessive Ehlers-Danlos syndrome, vascular type" "sodium ion homeostasis" @@ -5078,8 +5078,8 @@ "inclusion body myopathy with Paget disease of bone and frontotemporal dementia" "response to lapatinib" "leucine-rich repeat transmembrane protein FLRT3 measurement" - "cystitis" "5,6-dihydroxyindole-2-carboxylic acid oxidase" + "cystitis" "facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome" "tumor necrosis factor receptor superfamily member 3" "age of onset of refractive error" @@ -5154,9 +5154,9 @@ "abdomen" "obsolete_FGFR2-related bent bone dysplasia" "obsolete_split foot, bilateral" + "obsolete_bilateral generalized polymicrogyria" "complement component C8 measurement" "level of cytochrome c oxidase subunit 5A, mitochondrial in blood serum" - "obsolete_bilateral generalized polymicrogyria" "level of NAD-capped RNA hydrolase NUDT12 in blood serum" "hemolytic anemia due to erythrocyte adenosine deaminase overproduction" "multi fate stem cell" @@ -5208,8 +5208,8 @@ "ubiquitin-conjugating enzyme E2 variant 1 measurement" "blepharocheilodontic syndrome 1" "secreted frizzled-related protein 2" - "Yersinia infectious disease" "Hs 675.T" + "Yersinia infectious disease" "thrombomodulin measurement" "Vero" "floor plate of neural tube" @@ -5250,9 +5250,9 @@ "Double outlet right ventricle with doubly committed ventricular septal defect" "level of methionine-R-sulfoxide reductase B3, mitochondrial in blood serum" "acquired carbohydrate metabolism disease" + "glutathione S-transferase theta-2B measurement" "10x feature profiling" "multiminicore myopathy" - "glutathione S-transferase theta-2B measurement" "rectosigmoid carcinoma" "obsolete_abdominal cavity" "stem node" @@ -5273,10 +5273,10 @@ "C-type lectin domain family 4 member E measurement" "Escherichia coli UTI89" "level of intersectin-1 in blood serum" + "folliculitis" "oxaloacetic acid measurement" "level of acrosomal protein SP-10 in blood serum" "level of acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase in blood serum" - "folliculitis" "mitral annular calcification" "menopause" "Grayson-Wilbrandt corneal dystrophy" @@ -5316,8 +5316,8 @@ "epidural neoplasm" "obsolete_hereditary hemorrhagic telangiectasia" "obsolete_cortex" - "Lethal hemolytic anemia - genital anomalies" "SIR2-like protein 2 measurement" + "Lethal hemolytic anemia - genital anomalies" "health study participation" "unswitched memory B cell" "akkermansia seropositivity" @@ -5369,8 +5369,8 @@ "benign neoplasm of penis" "obsolete_Chandler syndrome" "obsolete_anomaly of the secretory and excretory apparatus of the lacrimal system" - "biliary dyskinesia" "pentasine measurement" + "biliary dyskinesia" "sarcoplasmic reticulum histidine-rich calcium-binding protein" "central memory CD8-positive, alpha-beta T cell" "IgLON family member 5" @@ -5425,9 +5425,9 @@ "Muscular dystrophy" "multiple epiphyseal dysplasia, with miniepiphyses" "acquired primary ovarian failure" + "Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ" "borderline personality disorder symptom" "obsolete_corneal epithelium" - "Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ" "RNA-binding protein 40 measurement" "WAP four-disulfide core domain protein 8" "hereditary Wilms tumor" @@ -5485,8 +5485,8 @@ "pulsed doppler echocardiography" "lower epidermis" "cholesterol to total lipids in large LDL percentage " - "urine protein measurement" "level of RELT-like protein 2 in blood serum" + "urine protein measurement" "gonad primordium" "3-methyl-2-oxobutyrate measurement" "mitochondrial pyruvate carrier deficiency" @@ -5508,17 +5508,17 @@ "apocrine sweat gland" "hTERT-RPE1"@en "obsolete homozygous 2p21 microdeletion syndrome" - "14q22q23 microdeletion syndrome" "zardaverine" "Bacteroides vulgatus" "erythrocytosis, familial, 4" + "14q22q23 microdeletion syndrome" "pregnancy" "phosphatidylcholine 39:5 measurement" - "obsolete_Rh deficiency syndrome" "Eca-109 cell" "substance unit" - "obsolete_Klippel-Trenaunay syndrome" + "obsolete_Rh deficiency syndrome" "collagen 6-related myopathy" + "obsolete_Klippel-Trenaunay syndrome" "level of leucine-rich repeat-containing protein 3 in blood serum" "level of methanethiol oxidase in blood serum" "Microcephaly - seizures - intellectual disability - heart disease" @@ -5528,8 +5528,8 @@ "autosomal recessive hereditary sensory and autonomic neuropathy" "flagellin seropositivity" "proteasome-associated autoinflammatory syndrome 5" - "oleoyl-arachidonoyl-glycerol (18:1/20:4) [2] measurement" "Kilquist syndrome" + "oleoyl-arachidonoyl-glycerol (18:1/20:4) [2] measurement" "aorta" "developmental and epileptic encephalopathy, 45" "sterol biosynthesis disorder" @@ -5553,9 +5553,9 @@ "phosphopantothenoylcysteine decarboxylase measurement" "mutARS-Seq" "level of acyl-coenzyme A thioesterase THEM4 in blood serum" + "Gyrate atrophy of choroid and retina" "Choroideremia - deafness - obesity" "UDP-glucuronosyltransferase 1-6" - "Gyrate atrophy of choroid and retina" "GM17145" "glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form" "level of protein N-terminal glutamine amidohydrolase in blood serum" @@ -5571,8 +5571,8 @@ "rG4-seq" "Rap1 GTPase-activating protein 1" "coiled-coil domain-containing protein 103" - "peroxisomal NADH pyrophosphatase NUDT12 measurement" "obsolete_osteochondrosis of genetic origin" + "peroxisomal NADH pyrophosphatase NUDT12 measurement" "N(2),N(2)-dimethylguanosine" "level of lengsin in blood serum" "Dilated cardiomyopathy" @@ -5706,8 +5706,8 @@ "free cholesterol in LDL measurement " "Microscopic hematuria" "22q11.2 deletion syndrome" - "obsolete_Monosomy 18q" "dendritic epidermal T cell" + "obsolete_Monosomy 18q" "level of RING-type E3 ubiquitin-protein ligase PPIL2 in blood serum" "VIP36-like protein measurement" "Bacillus cereus G9842" @@ -5731,8 +5731,8 @@ "obsolete_partial deletion of the short arm of chromosome 5" "6-phosphogluconate dehydrogenase deficiency" "clostridium phage virus seropositivity" - "mucin-like protein 1" "level of RNA-binding protein 3 in blood serum" + "mucin-like protein 1" "level of ubiquitin-conjugating enzyme E2 variant 2 in blood serum" "gastric cardia adenocarcinoma" "obsolete_pancreatic beta cell agenesis with neonatal diabetes mellitus" @@ -5791,20 +5791,20 @@ "obsolete_Sotos syndrome" "obsolete PIK3CA-related overgrowth syndrome" "adrenomyodystrophy" - "obsolete_cerebrotendinous xanthomatosis" + "1-oleoylglycerol (18:1) measurement" "Gossypium hirsutum" "NT-1" "embryonic labial sensory complex" - "1-oleoylglycerol (18:1) measurement" - "HSD10 disease" "insulin gene enhancer protein ISL-1" - "obsolete_Barth syndrome" + "obsolete_cerebrotendinous xanthomatosis" + "HSD10 disease" "KARPAS-620" "level of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 in blood serum" "level of actin-related protein 2/3 complex subunit 3 in blood serum" "level of Phosphatidylinositol (18:0_18:1) in blood serum" "trichostrongylosis" "Oncorhynchus kisutch" + "obsolete_Barth syndrome" "CDGSH iron-sulfur domain-containing protein 2" "Theiler stage 14" "level of chymotrypsin-C in blood serum" @@ -5844,9 +5844,9 @@ "Microcebus murinus" "copy number loss" "obsolete_Moynahan syndrome" + "triacylglycerol 56:9 measurement"@en "whole plant fruit formation stage 70% to final size" "fetal hemoglobin measurement" - "triacylglycerol 56:9 measurement"@en "HOSE cell" "imaginal disc" "parathyroid hormone measurement" @@ -5912,15 +5912,15 @@ "level of calcyclin-binding protein in blood serum" "obsolete_ovarian hyperstimulation syndrome" "transcription regulator protein BACH1" - "distal myopathy" "gamma-aminobutyric acid receptor-associated protein-like 1 measurement" "X-22520 measurement" + "distal myopathy" "thrombin-antithrombin complex measurement" "obsolete_abdominal skin" "syndromic intellectual disability" "Boudin-Mortier syndrome" - "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial" "betaine-to-pyroglutamine ratio" + "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial" "alpha/beta hydrolase domain-containing protein 14A measurement" "esterified campesterol measurement"@en "cell concentration unit" @@ -5970,9 +5970,9 @@ "Pallister-Hall syndrome" "stationary phase culture" "level of medium-chain acyl-CoA ligase ACSF2, mitochondrial in blood serum" + "obsolete_hereditary thermosensitive neuropathy" "TOV-112D" "obsolete_glial cell (sensu Vertebrata)" - "obsolete_hereditary thermosensitive neuropathy" "Pustule" "transcription factor MafG" "ventral horn of spinal cord" @@ -6077,8 +6077,8 @@ "obsolete_EEC syndrome and related syndrome" "mucopolysaccharidosis type 6, rapidly progressing" "Edema" - "annexin A9" "obsolete_Rosselli-Gulienetti syndrome" + "annexin A9" "muscular dystrophy" "docosahexaenoate" "glucuronide of C19H28O4 (1) measurement" @@ -6215,12 +6215,12 @@ "level of reelin in blood serum" "urine glucose measurement" "ribonucleoside metabolic process" - "3-methyl-2-oxovalerate measurement" + "obsolete_microcephalic osteodysplastic primordial dwarfism type II" "torsion dystonia 4" + "3-methyl-2-oxovalerate measurement" "thioredoxin" "Abnormality of chromosome segregation" "fetal akinesia deformation sequence" - "obsolete_microcephalic osteodysplastic primordial dwarfism type II" "R43" "palmitoyl-linoleoyl-glycerol (16:0/18:2) [2] measurement" "zinc finger protein 175 measurement" @@ -6240,8 +6240,8 @@ "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2" "electroclinical syndrome" "myocarditis" - "Kluver-Bucy syndrome" "luminous intensity unit" + "Kluver-Bucy syndrome" "level of intelectin-1 in blood serum" "level of selenoprotein H in blood serum" "childhood central nervous system embryonal carcinoma" @@ -6312,8 +6312,8 @@ "stage II endometrioid carcinoma" "posterior endoderm anlage" "obsolete_AXIN2-related attenuated familial adenomatous polyposis" - "presbyopia" "obsolete_dermatoosteolysis, Kirghizian type" + "presbyopia" "autosomal recessive osteopetrosis 3" "senile cataract" "trichostatin A" @@ -6321,15 +6321,15 @@ "macular corneal dystrophy" "level of leucine-rich repeat-containing protein 20 in blood serum" "facial pigmentation measurement" - "heat shock protein beta-6" "obsolete_Congenital primary lymphedema" + "heat shock protein beta-6" "testicular carcinoma" "FG syndrome 2" "level of cyclin-dependent kinase-like 2 in blood serum" "fGS/OSS" "conjunctival degeneration" - "obsolete_lower limb hypertrophy" "Penicillium fellutanum" + "obsolete_lower limb hypertrophy" "calpastatin measurement" "Arteritis" "alopecia-epilepsy-pyorrhea-intellectual disability syndrome" @@ -6347,8 +6347,8 @@ "medulloblastoma with extensive nodularity" "obsolete_sigmoid colon" "CB189" - "Amelo-onycho-hypohidrotic syndrome" "early-onset anterior polar cataract" + "Amelo-onycho-hypohidrotic syndrome" "obsolete_familial isolated hypoparathyroidism due to agenesis of parathyroid gland" "freckles" "intellectual disability-balding-patella luxation-acromicria syndrome" @@ -6414,9 +6414,9 @@ "intellectual disability, autosomal dominant 2" "obsolete_caudal tuberal nucleus" "conducting system of heart" - "Rare genetic deafness" "external ear cancer" "glomerular endothelium" + "Rare genetic deafness" "glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form" "serotonin" "osteomodulin measurement" @@ -6494,13 +6494,13 @@ "eye neoplasm" "obsolete_hereditary site-specific ovarian cancer syndrome" "muscular dystrophy, limb-girdle, autosomal recessive 27" - "mantle cell" "Genetic 46,XY disorder of sex development of endocrine origin" + "mantle cell" "divergent protein kinase domain 1C" + "level of protein Muted in blood serum" "specific developmental disorder" "HCC78" "SW403" - "level of protein Muted in blood serum" "level of guanine deaminase in blood serum" "Congenital ichthyosis - microcephalus - tetraplegia" "Ciliophora infectious disease" @@ -6555,11 +6555,12 @@ "erucic acid" "pulmonary aspergillosis" "ephrin type-B receptor 3 measurement" + "Autosomal recessive cerebellar ataxia - blindness - deafness" "MAX gene-associated protein" "childhood medulloblastoma" - "Autosomal recessive cerebellar ataxia - blindness - deafness" - "GM12760" "diacylglycerol 38:5 measurement" + "GM12760" + "TCC" "CPT-seq" "angiographic measurement" "SKGT4" @@ -6568,7 +6569,6 @@ "HUVEC cell line" "myopathy, congenital proximal, with minicore lesions" "Caenorhabditis briggsae" - "TCC" "free cholesterol in medium HDL measurement " "hereditary nonpolyposis colorectal carcinoma" "EH domain-containing protein 3" @@ -6622,8 +6622,8 @@ "vestibular gland benign neoplasm" "level of NEDD8-conjugating enzyme UBE2F in blood serum" "humero-radio-ulnar synostosis, unilateral" - "Glaucoma associated with neural crest cell migration anomaly" "Fusarium avenaceum" + "Glaucoma associated with neural crest cell migration anomaly" "transcription factor IIIb 90 kda subunit measurement" "Tented upper lip vermilion" "sorting nexin-17 measurement" @@ -6814,8 +6814,8 @@ "biliverdin" "C1GALT1-specific chaperone 1 measurement" "X-linked intellectual disability-epilepsy syndrome" - "coiled-coil domain-containing protein 167 measurement" "Autosomal recessive spastic paraplegia type 18" + "coiled-coil domain-containing protein 167 measurement" "Genetic keratinization disorder associated with ocular features" "tremor-ataxia-central hypomyelination syndrome" "concentration of very small VLDL particles" @@ -6842,8 +6842,8 @@ "Hordeum vulgare subsp. spontaneum" "fatal infantile encephalocardiomyopathy" "intraductal cribriform breast adenocarcinoma" - "Central polydactyly of toes, unilateral" "nasopharyngeal squamous cell carcinoma" + "Central polydactyly of toes, unilateral" "pseudotumor cerebri" "vascular cancer" "Pseudomonas fluorescens Pf0-1" @@ -6874,9 +6874,9 @@ "bladder urachal adenocarcinoma" "level of CDK5 regulatory subunit-associated protein 3 in blood serum" "3-(5-fluorouracil-1-yl)-L-alanine" - "level of inositol oxygenase in blood serum" "Blood Cell Count Ratio Measurement" "glucagon measurement" + "level of inositol oxygenase in blood serum" "intellectual disability-seizures-macrocephaly-obesity syndrome" "Ovarian Microcystic Stromal Tumor" "phosphatidylcholine 40:8 measurement" @@ -6976,11 +6976,11 @@ "KYSE-180" "Neurothekeoma" "level of Rab GTPase-binding effector protein 1 in blood serum" + "Duodenal Adenocarcinoma" "hereditary spastic paraplegia 28" "oxidative stress biomarker measurement"@en "level of glioma pathogenesis-related protein 1 in blood serum" "obsolete_dorsal raphe nucleus" - "Duodenal Adenocarcinoma" "Commotio Cordis" "Ippy virus" "GM11839" @@ -6994,8 +6994,8 @@ "Absence of fingerprints - congenital milia" "obsolete_Hunter-McAlpine craniosynostosis" "obsolete_Wolf-Hirschhorn syndrome" - "homocitrate(1-)" "level of protein regulator of cytokinesis 1 in blood serum" + "homocitrate(1-)" "Insulin resistance" "Toriello-Carey syndrome" "Cutaneous abscess" @@ -7050,8 +7050,8 @@ "root caries" "microsatellite instability measurement" "LOXIMVI" - "cyclosporiasis" "obsolete_severe X-linked mitochondrial encephalomyopathy" + "cyclosporiasis" "14 kDa phosphohistidine phosphatase" "myocardial infarction" "transmembrane gamma-carboxyglutamic acid protein 4" @@ -7129,8 +7129,8 @@ "neoplasm of thorax" "Abseq" "obsolete_partial duplication of chromosome 7" - "APOBEC1 complementation factor measurement" "obsolete_Sandhoff disease, juvenile form" + "APOBEC1 complementation factor measurement" "cryptophthalmia" "campesterol" "lamina-associated polypeptide 2, isoforms beta/gamma measurement" @@ -7196,9 +7196,9 @@ "paracetamol" "Autosomal recessive cerebellar ataxia - saccadic intrusion" "thymocyte nuclear protein 1 measurement" - "Tibial Adamantinoma" "CS57790" "nucleolar protein 16" + "Tibial Adamantinoma" "hereditary hemochromatosis type 1" "basal ganglia calcification, idiopathic, 8, autosomal recessive" "progressive muscular dystrophy" @@ -7217,8 +7217,8 @@ "obsolete_mulibrey nanism" "Salmonella enterica subsp. enterica serovar Muenchen" "Ovarian Steroid Cell Tumor" - "Sensorimotor neuropathy" "obsolete_disorder of sialic acid metabolism" + "Sensorimotor neuropathy" "osteopetrosis-associated transmembrane protein 1" "infant" "whole plant fruit formation stage 30 to 50%" @@ -7226,8 +7226,8 @@ "triacylglycerol 58:11 measurement"@en "rhophilin-2 measurement" "1-eicosatrienoylglycerophosphoethanolamine measurement" - "transcription factor Sp6" "obsolete_leukodystrophy" + "transcription factor Sp6" "complement factor H measurement" "sickle cell anemia" "Theiler stage 28" @@ -7396,8 +7396,8 @@ "caudal duplication" "protein jagged-2 measurement" "platelet glycoprotein 4 measurement" - "Ankyloblepharon - ectodermal defects - cleft lip/palate" "hereditary poikiloderma" + "Ankyloblepharon - ectodermal defects - cleft lip/palate" "PDZ domain-containing protein 7" "diplegia of upper limb" "Abnormality of the anus" @@ -7469,13 +7469,13 @@ "level of calcium-dependent secretion activator 2 in blood serum" "G protein-coupled receptor kinase 5" "metabolic myopathy" + "kynurenate measurement" "BAG family molecular chaperone regulator 1" "level of uncharacterized protein C2orf66 (human) in blood serum" - "kynurenate measurement" "n-methyl-2-pyridone-5-carboxamide measurement" "base metabolic rate measurement" - "cerebellar disorder" "level of Phosphatidylcholine (18:1_18:3) in blood serum" + "cerebellar disorder" "acinar cell carcinoma" "fast muscle tissue" "appendiceal neoplasm" @@ -7531,10 +7531,10 @@ "GTP-binding protein Di-Ras3" "low-density lipoprotein receptor class A domain-containing protein 4" "heart cancer" - "integral membrane protein 2C measurement" "skin disorder caused by infection" "urethral syndrome" "transcription factor HES-3" + "integral membrane protein 2C measurement" "level of von Willebrand factor A domain-containing protein 2 in blood serum" "syncytiotrophoblast" "level of 40S ribosomal protein S12 in blood serum" @@ -7563,9 +7563,9 @@ "level of 13-hydroxyoctadecadienoic acid in blood plasma" "level of EH domain-binding protein 1 in blood serum" "hereditary sensory and autonomic neuropathy with spastic paraplegia" - "obsolete_congenital unilateral hypoplasia of depressor anguli oris" "V-type proton ATPase subunit C 1" "level of spermatogenesis-associated protein 24 in blood serum" + "obsolete_congenital unilateral hypoplasia of depressor anguli oris" "level of prominin-1 in blood serum" "soluble transferrin receptor measurement" "all-trans-retinol dehydrogenase [NAD(+)] ADH1B" @@ -7573,8 +7573,8 @@ "X-12822 measurement" "spermatogenic failure 43" "Beta-thalassemia" - "Ullrich congenital muscular dystrophy 1C" "brother of CDO measurement" + "Ullrich congenital muscular dystrophy 1C" "Childhood onset sensorineural hearing impairment" "N,N-dimethylglycine" "congenital sucrase-isomaltase deficiency with starch and lactose intolerance" @@ -7616,11 +7616,11 @@ "Ovarian Mixed Epithelial Tumor" "Blood Cell Count with Differential" "hereditary spastic paraplegia 11" + "glucose-dependent insulinotropic peptide measurement" "level of MIT domain-containing protein 1 in blood serum" "Crassostrea virginica" - "glucose-dependent insulinotropic peptide measurement" - "finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome" "S-adenosyl-L-homocysteine" + "finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome" "autosomal recessive spinocerebellar ataxia 11" "tumor necrosis factor alpha-induced protein 3" "kilogram" @@ -7643,8 +7643,8 @@ "X-11485 measurement" "Accelerated skeletal maturation" "level of NHL repeat-containing protein 3 in blood serum" - "neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia" "level of serine protease inhibitor Kazal-type 8 in blood serum" + "neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia" "glutamine-to-histidine ratio" "post-thrombotic syndrome" "sinoatrial node dysfunction and deafness" @@ -7722,8 +7722,8 @@ "gastrula 90%-epiboly" "8-hydroxydeoxyguanosine measurement"@en "classic medulloblastoma" - "CB306" "GM11881" + "CB306" "corneal topography" "obsolete coralliform cataract" "leucine-rich repeat and fibronectin type-III domain-containing protein 3" @@ -7761,8 +7761,8 @@ "obsolete_congenital brain dysgenesis due to glutamine synthetase deficiency" "LAMA2-related muscular dystrophy" "myofibrillar myopathy 11" - "neurodevelopmental disorder with hyperkinetic movements and dyskinesia" "chronic hepatitis" + "neurodevelopmental disorder with hyperkinetic movements and dyskinesia" "cefuroxime" "partial deletion of the short arm of chromosome 1" "Anxiety" @@ -7906,8 +7906,8 @@ "level of Phosphatidylinositol (18:0_20:4) in blood serum" "trombiculiasis" "SUDHL1" - "radical prostatectomy"@en "level of thymocyte nuclear protein 1 in blood serum" + "radical prostatectomy"@en "type 2 collagenopathy" "SAPHO syndrome" "spondyloepiphyseal dysplasia congenita" @@ -7945,8 +7945,8 @@ "ETS homologous factor" "orofacial cleft 5" "CD8-positive, CD25-positive, alpha-beta regulatory T cell" - "obsolete_severe early-childhood-onset retinal dystrophy" "optic nerve disorder" + "obsolete_severe early-childhood-onset retinal dystrophy" "childhood gonadal germ cell tumor" "SET-binding protein" "postburn hypertrophic scarring severity measurement" @@ -8034,8 +8034,8 @@ "reciprocal translocation" "Abnormal retinal morphology" "gamma-glutamyl hydrolase measurement" - "ribonucleoside-diphosphate reductase subunit M2" "X-23157 measurement" + "ribonucleoside-diphosphate reductase subunit M2" "Reduced left ventricular ejection fraction" "level of probable inactive serine protease 37 in blood serum" "mite infestation" @@ -8083,8 +8083,8 @@ "level of carcinoembryonic antigen-related cell adhesion molecule 20 in blood serum" "level of talin rod domain-containing protein 1 in blood serum" "level of phospholipase A and acyltransferase 2 in blood serum" - "hyperopia" "3-hydroxydecanoate measurement" + "hyperopia" "obsolete_progressive retinal dystrophy due to retinol transport defect" "phosphatidylcholine diacyl C40:4 measurement" "osteocrin" @@ -8099,8 +8099,8 @@ "Theiler stage 18" "obsolete_cryptogenic late-onset epileptic spasms" "eicosenoyl sphingomyelin measurement" - "2-stearoyl-GPE (18:0) measurement" "Premature eruption of permanent teeth" + "2-stearoyl-GPE (18:0) measurement" "combined carcinoid and adenocarcinoma" "kynureninase measurement" "3-hydroxysebacate" @@ -8156,10 +8156,10 @@ "Streptococcus mutans" "citrus intake measurement"@en "Antimigraine preparation use measurement" - "neuralgia" "urinary albumin to creatinine ratio" "islet amyloid polypeptide" "thyroid gland oncocytic adenoma" + "neuralgia" "global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome" "mature B cell" "obsolete endometrial hyperplasia" @@ -8200,6 +8200,7 @@ "perinatal disease" "level of calbindin in blood serum" "Neurodegenerative disease with chorea" + "phosphate-to-erythronate ratio" "gastritis" "n-methylnicotinic acid measurement" "hysterectomy" @@ -8207,7 +8208,6 @@ "obsolete_juvenile stage" "B220-low CD38-positive unswitched memory B cell" "obsolete_hemoglobin E disease" - "phosphate-to-erythronate ratio" "intermediate severe Salla disease" "Caffey disease" "triglycerides to total lipids in large HDL percentage " @@ -8293,11 +8293,11 @@ "GATA5-related congenital heart defects" "obsolete_floor plate" "CS57776" + "SC-1" "gallbladder lipoma" "Malpighian tubule main body primordium" - "SC-1" - "childhood cerebral astrocytoma" "squamous cell carcinoma of the corpus uteri" + "childhood cerebral astrocytoma" "carnosine measurement"@en "Laryngopharyngeal Reflux" "autosomal dominant vitreoretinochoroidopathy" @@ -8324,8 +8324,8 @@ "obsolete_torus semicircularis" "C38:7 phosphatidylcholine plasmalogen measurement" "progesterone receptor status" - "ciliary dyskinesia, primary, 40" "gastrula 75%-epiboly" + "ciliary dyskinesia, primary, 40" "SLAM family member 8" "blood vessel" "plasma fibronectin deficiency" @@ -8487,8 +8487,8 @@ "T4b tumor stage" "lethal occipital encephalocele-skeletal dysplasia syndrome" "obsolete_narcolepsy with cataplexy" - "Xeroderma pigmentosum complementation group A" "Bromus inermis" + "Xeroderma pigmentosum complementation group A" "L-Asparagine anhydrous measurement" "obsolete_methylmalonic acidemia with homocystinuria, type cblX" "immunoglobulin complex" @@ -8501,12 +8501,12 @@ "small intestine neuroendocrine tumor, well differentiated, low or intermediate grade" "obsolete interaction with host via secreted substance" "childhood electroclinical syndrome" - "obsolete_partial deletion of the short arm of chromosome 2" "sperm-associated antigen 11B" "obsolete Heimler syndrome" - "RNA-Seq" + "obsolete_partial deletion of the short arm of chromosome 2" "OCI-LY3" "ABCA4-related retinopathy" + "RNA-Seq" "hereditary hypophosphatemic rickets with hypercalciuria" "membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2" "astrocytoma" @@ -8626,8 +8626,8 @@ "dementia" "GlyA-positive erythrocyte" "2-aminoheptanoate measurement" - "sphingomyelin change measurement" "obsolete_Brachytelephalangic chondrodysplasia punctata" + "sphingomyelin change measurement" "axial length measurement" "hereditary cryohydrocytosis with reduced stomatin" "level of nuclear pore complex protein Nup98-Nup96 in blood serum" @@ -8644,8 +8644,8 @@ "Synechococcus elongatus" "obsolete_alopecia totalis" "syngnathia-cleft palate syndrome" - "Rare hyperopia and astigmatism" "enhancer of filamentation 1" + "Rare hyperopia and astigmatism" "phytanoyl-CoA dioxygenase domain-containing protein 1" "small EDRK-rich factor 1 measurement" "cotranscriptional regulator ARB2A" @@ -8670,15 +8670,15 @@ "EH" "peripheral nerve lesion" "nuclear RNA export factor 1" - "GM19043" "ketamine" "metastasis from malignant tumor of colon" "chorioamnionitis" "GM07348" + "GM19043" "obsolete disorder of lipid absorption and transport" "congenital stromal corneal dystrophy" - "oculoauriculovertebral spectrum with radial defects" "inherited macular dystrophy"@en + "oculoauriculovertebral spectrum with radial defects" "neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination" "trochanter" "Blepharophimosis - epicanthus inversus - ptosis due to a point mutation" @@ -8705,15 +8705,15 @@ "N'Dama" "Atelis syndrome" "beta-lactam" - "obsolete_dyskeratosis congenita" "gentisate measurement" + "obsolete_dyskeratosis congenita" "Limb muscle weakness" "linoleate 18:2n6-to-X-12442-5,8-tetradecadienoate ratio"@en "46,XX disorder of sex development-anorectal anomalies syndrome" "Pelizaeus-Merzbacher-like disease" "malaise" - "level of carbohydrate sulfotransferase 9 in blood serum" "acyl-CoA-binding domain-containing protein 6 measurement" + "level of carbohydrate sulfotransferase 9 in blood serum" "chronic meningitis" "obsolete_Congenital hereditary endothelial dystrophy type II" "guanine deaminase measurement" @@ -8744,8 +8744,8 @@ "Ichthyosis - hepatosplenomegaly - cerebellar degeneration" "leukocyte adhesion deficiency 3" "ribonucleoside-diphosphate reductase subunit M2 B" - "streptococcus pneumoniae discitis" "peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome" + "streptococcus pneumoniae discitis" "urothelial papilloma" "DNA-binding protein RFX5" "RECON progeroid syndrome" @@ -8770,10 +8770,10 @@ "level of arylsulfatase K in blood serum" "level of Phosphatidylinositol (18:1_18:1) in blood serum" "tropical spastic paraparesis" - "level of progonadoliberin-2 in blood serum" "obsolete_congenital contractural arachnodactyly" - "prominin-1" + "level of progonadoliberin-2 in blood serum" "level of tether containing UBX domain for GLUT4 in blood serum" + "prominin-1" "level of nucleolysin TIAR in blood serum" "level of transcription cofactor vestigial-like protein 4 in blood serum" "cornea squamous cell carcinoma" @@ -8789,14 +8789,14 @@ "anatomy basic component" "obsolete_Dorfman-Chanarin disease" "autosomal recessive osteopetrosis 7" - "ER membrane protein complex subunit 1 measurement" - "PAXC002"@en "HCjE" "SW684" + "ER membrane protein complex subunit 1 measurement" "intellectual disability, autosomal dominant 13" "early endosome antigen 1" "ornithine translocase deficiency" "Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell" + "PAXC002"@en "Foster-Kennedy syndrome" "alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase" "toll/interleukin-1 receptor domain-containing adapter protein measurement" @@ -8849,11 +8849,11 @@ "fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies" "DR1572" "digestive system infectious disorder" - "exosome complex component RRP43" "level of acidic fibroblast growth factor intracellular-binding protein in blood serum" + "exosome complex component RRP43" "rectocele" - "skeletal age"@en "amelogenesis imperfecta type 1" + "skeletal age"@en "frontotemporal dementia with motor neuron disease" "female organism" "hypaphorine" @@ -8870,9 +8870,9 @@ "lysophosphatidylcholine 14:0 measurement"@en "level of acid ceramidase in blood serum" "pregnancy test" + "Spinal muscular atrophy - Dandy-Walker malformation - cataracts" "Partial deletion of the short arm of chromosome 9" "Nematoda infectious disease" - "Spinal muscular atrophy - Dandy-Walker malformation - cataracts" "helping behavior measurement" "E3 ubiquitin-protein ligase TRIM62" "pit and fissure surface dental caries" @@ -8940,10 +8940,10 @@ "anti-hepatitis E virus antibody measurement" "obsolete MSH3-related attenuated familial adenomatous polyposis" "transcription factor HES-5" - "Abnormal circulating serine family amino acid concentration" "level of NudC domain-containing protein 2 in blood serum" "level of 40S ribosomal protein S19 in blood serum" "dystroglycan 1" + "Abnormal circulating serine family amino acid concentration" "neoplasm of endocardium" "myelinating Schwann cell" "chloride intracellular channel protein 1 measurement" @@ -9107,8 +9107,8 @@ "partial duplication of the short arm of chromosome 19" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" "RNA binding protein fox-1 homolog 1" - "obsolete_odonto-onycho-dermal dysplasia" "response to ximelagatran" + "obsolete_odonto-onycho-dermal dysplasia" "hemangioma of gingiva" "synpolydactyly type 1" "X-linked diffuse leiomyomatosis - Alport syndrome" @@ -9165,27 +9165,27 @@ "chenodeoxycholate measurement"@en "Phenylalanine-d8" "obsolete syndromic urogenital tract malformation" + "Hereditary cerebral hemorrhage with amyloidosis, Italian type" "Craniofrontonasal dysplasia" "corpus collosum mid-posterior volume measurement"@en "level of C-X-C motif chemokine 17 in blood serum" - "Hereditary cerebral hemorrhage with amyloidosis, Italian type" "Pili torti - developmental delay - neurological abnormalities" "C-C motif chemokine 22 measurement" "3-methyladipic acid measurement"@en - "Cercocebus atys" "Immature Plasma Cell Count" "Felty's syndrome" + "Cercocebus atys" + "level of indoleamine 2,3-dioxygenase 1 in blood serum" "WIDR" "Kohlschutter-Tonz syndrome-like" + "Salla disease" "tyrosinemia type II" "chronic conjunctivitis" "toxic or drug-related embryofetopathy" "obsolete_dentate gyrus" - "Salla disease" "V-set and immunoglobulin domain-containing protein 4" "Drosophila embryonic structure" "transposition of the great arteries" - "level of indoleamine 2,3-dioxygenase 1 in blood serum" "venlafaxine" "PTEN hamartoma tumor syndrome" "TruSeq"@en @@ -9308,8 +9308,8 @@ "celastrol" "level of enoyl-CoA Delta isomerase 1, mitochondrial in blood serum" "thymoma type A" - "1-[(4Z,7Z,10Z,13Z,16Z)-docosapentaenoyl]-sn-glycero-3-phosphocholine" "Congenital dyserythropoietic anemia type I" + "1-[(4Z,7Z,10Z,13Z,16Z)-docosapentaenoyl]-sn-glycero-3-phosphocholine" "germplasm" "bleomycin" "obsolete_familial restrictive cardiomyopathy" @@ -9514,8 +9514,8 @@ "NCI-H69" "lactadherin measurement" "Increased blood pressure" - "duodenal neuroendocrine neoplasm" "obsolete_syndromic hyperopia" + "duodenal neuroendocrine neoplasm" "hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" "anterior segment dysgenesis 7" "chromosome 17q23.1-q23.2 deletion syndrome" @@ -9556,8 +9556,8 @@ "sulfide quinone oxidoreductase deficiency" "Rickettsia prowazekii Rp22" "Scleroderma Polymyositis Overlap Syndrome" - "ureter leiomyoma" "obsolete_diazoxide-resistant hyperinsulinism" + "ureter leiomyoma" "Plantar Fasciitis" "metallophosphoesterase MPPED2" "receptor-type tyrosine-protein phosphatase delta measurement" @@ -9587,9 +9587,9 @@ "level of Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 in blood serum" "posterior lateral line system" "AP-1 complex subunit sigma-2" + "obsolete_dermochondrocorneal dystrophy" "Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay" "obsolete_partial deletion of the long arm of chromosome 19" - "obsolete_dermochondrocorneal dystrophy" "chromosomal aberration" "level of testis-expressed protein 30 in blood serum" "HLA class II histocompatibility antigen gamma chain measurement" @@ -9623,8 +9623,8 @@ "torsin-1A-interacting protein 1 measurement" "hydrogen peroxide" "CD38-negative IgG-negative class switched memory B cell" - "octanoylcarnitine-to-X-13435 ratio" "obsolete_hemophilia A" + "octanoylcarnitine-to-X-13435 ratio" "DN2 thymocyte" "recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome" "tRNA N(3)-methylcytidine methyltransferase METTL2B" @@ -9711,8 +9711,8 @@ "obsolete_16p11.2p12.2 microduplication syndrome" "smooth surface dental caries" "level of polyunsaturated fatty acid lipoxygenase ALOX15B in blood serum" - "obsolete_hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency" "sepal" + "obsolete_hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency" "hereditary spastic paraplegia 23" "vitamin D dietary intake measurement" "obsolete_caudal fin" @@ -9740,13 +9740,13 @@ "obsolete_glycerol kinase deficiency, juvenile form" "bronchial smooth muscle cell derived cell line" "level of beta-ureidopropionase in blood serum" - "C-type lectin domain family 2 member B measurement" "obsolete_central polydactyly of fingers, bilateral" + "C-type lectin domain family 2 member B measurement" "nasal cavity" "Apis dorsata" "calcyclin-binding protein" - "obsolete_autosomal recessive congenital ichthyosis" "endosome/lysosome-associated apoptosis and autophagy regulator family member 2" + "obsolete_autosomal recessive congenital ichthyosis" "Amblyopia" "obsolete_hereditary mucoepithelial dysplasia" "obsolete_amelia of upper limb" @@ -9855,8 +9855,8 @@ "level of secretoglobin family 1D member 2 in blood serum" "Hepatomegaly" "glycoprotein metabolic process" - "OCI-M1" "Autosomal dominant hyper-IgE syndrome" + "OCI-M1" "C-type lectin domain family 4 member D measurement" "hypoplastic left heart syndrome 1" "adenosquamous breast carcinoma" @@ -9865,10 +9865,10 @@ "CREB-binding protein measurement" "obsolete_CAMOS syndrome" "level of urocortin-3 in blood serum" - "protein FAM50A" "dystonia 21" - "organonitrogen compound metabolic process" + "protein FAM50A" "disease" + "organonitrogen compound metabolic process" "protein-tyrosine sulfotransferase 1" "obsolete_red blood cell distribution width" "obsolete_X-linked calvarial hyperostosis" @@ -9927,23 +9927,23 @@ "hippocampal neuron" "obsolete_congenital non-communicating hydrocephalus" "obsolete_symptomatic form of hemophilia B in female carriers" - "obsolete Toe walking" "Major Salivary Gland Carcinoma" + "obsolete Toe walking" "obsolete_isolated ankyloblepharon filiforme adnatum" "pyridoxal kinase measurement" "2-deoxy-D-glucose" "fasting blood glucose measurement" "LIG4 syndrome" - "reticulon-4 measurement" "obsolete_collective leaf structure" + "reticulon-4 measurement" "aorta angiosarcoma" "collagen alpha-2(XI) chain" "Carica papaya" "Pasteurella multocida subsp. multocida str. Pm70" "congenital left-sided heart lesions" + "hypomyelinating leukodystrophy 12" "Miscanthus x giganteus" "Country" - "hypomyelinating leukodystrophy 12" "mitochondrial inner membrane protease subunit 2" "X-linked intellectual disability-hypotonia-movement disorder syndrome" "fetal growth restriction" @@ -9982,11 +9982,11 @@ "internal ear" "trait in response to vincristine" "apparent mineralocorticoid excess" + "Craniofrontonasal dysplasia - Poland anomaly" "Paired-Tag"@en "cubic centimeter" "homer protein homolog 2" "hematopoietic multipotent progenitor cell" - "Craniofrontonasal dysplasia - Poland anomaly" "level of endophilin-A3 in blood serum" "mitochondrial complex 1 deficiency, nuclear type 5" "chronic laryngitis" @@ -10106,8 +10106,8 @@ "obsolete_SELEX" "Butyrivibrio proteoclasticus B316" "level of leukocyte immunoglobulin-like receptor subfamily A member 5 in blood serum" - "acylphosphatase-2 measurement" "ossification anomalies-psychomotor developmental delay syndrome" + "acylphosphatase-2 measurement" "nanomole" "level of calcium and integrin-binding protein 1 in blood serum" "level of cullin-associated NEDD8-dissociated protein 1 in blood serum" @@ -10131,8 +10131,8 @@ "Bacillus thuringiensis Bt407" "Alternariosis" "Emery-Dreifuss muscular dystrophy" - "Cas scaffolding protein family member 4" "brain edema" + "Cas scaffolding protein family member 4" "collagen triple helix repeat-containing protein 1" "myxofibrosarcoma" "hemoglobin subunit delta" @@ -10154,10 +10154,10 @@ "cadherin-4" "obsolete_hereditary stomatocytosis" "isoleucine measurement" - "protein s100-a9 measurement" "level of Golgi membrane protein 1 in blood serum" "Fc receptor-like B" "benign meningioma" + "protein s100-a9 measurement" "level of von Hippel-Lindau-like protein in blood serum" "level of Rho guanine nucleotide exchange factor TIAM2 in blood serum" "zinc finger protein 696" @@ -10217,8 +10217,9 @@ "NCI-H716" "left ventricular diastolic function measurement" "obsolete_fleck corneal dystrophy" - "appendix neuroendocrine neoplasm" "obsolete_syndromic keratoconus" + "appendix neuroendocrine neoplasm" + "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2D" "essential strabismus" "obsolete Chitotriosidase deficiency" "hereditary spastic paraplegia 41" @@ -10226,7 +10227,6 @@ "Synechococcus sp. WH 8102" "tryptophan 2,3-dioxygenase" "obsolete_posttemporal" - "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2D" "beta-aminoisobutyric acid, urinary excretion of" "Griscelli disease" "obsolete_benign concentric annular macular dystrophy" @@ -10253,10 +10253,10 @@ "CH12.LX" "CLN8 disease" "level of paralemmin in blood serum" - "obsolete_bilateral renal agenesis" "40s ribosomal protein SA measurement" - "beta-Nicotinamide mononucleotide measurement" + "obsolete_bilateral renal agenesis" "level of lung adenoma susceptibility protein 2 in blood serum" + "beta-Nicotinamide mononucleotide measurement" "CRISPR-UMI" "lung benign neoplasm" "level of sushi domain-containing protein 3 in blood serum" @@ -10285,8 +10285,8 @@ "buttock" "Escherichia coli B" "arteriosclerosis disorder" - "embryonic stage 16" "mosaic trisomy 5" + "embryonic stage 16" "cystadenofibroma" "cytarabine" "obsolete_qualitative or quantitative defects of integrin alpha-7" @@ -10333,8 +10333,8 @@ "benign infantile focal epilepsy with midline spikes and wave during sleep" "femur-fibula-ulna complex" "N-methylformamide" - "Desminopathy" "fungal component" + "Desminopathy" "Autosomal dominant spastic paraplegia type 10" "DNA-binding protein inhibitor ID-2" "obsolete_X-linked intellectual disability, Kroes type" @@ -10347,9 +10347,9 @@ "obsolete_congenital tracheal stenosis" "decubitus ulcer" "obsolete_hereditary glaucoma" - "Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder" "corpus callosum agenesis-abnormal genitalia syndrome" "hypogonadotropic hypogonadism-retinitis pigmentosa syndrome" + "Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder" "Ebola hemorrhagic fever" "tanespimycin" "obsolete_posterior lateral mesoderm" @@ -10399,8 +10399,8 @@ "obsolete_aspartylglucosaminuria" "obsolete_coronory artery calcification" "tyrosol 4-sulfate measurement" - "aortic arch defects" "total parenteral nutrition" + "aortic arch defects" "3-hydroxy-1-methylpropylmercapturic acid measurement" "uncharacterized protein KIAA1143" "GM07034" @@ -10424,10 +10424,10 @@ "obsolete_rosette stage" "EC 2.7.11.13 (protein kinase C) inhibitor" "p-cresol sulfate measurement" - "obsolete_hemophilia B" - "valine-to-isovalerylcarnitine ratio" "CD38-positive IgG-negative class switched memory B cell" + "valine-to-isovalerylcarnitine ratio" "obsolete_corneal stroma" + "obsolete_hemophilia B" "DN3 thymocyte" "sexual dysfunction" "sleep apnea measurement during non-REM sleep" @@ -10475,10 +10475,10 @@ "classical monocyte" "obsolete_X-linked intellectual disability due to GRIA3 anomalies" "level of nuclear receptor ROR-gamma in blood serum" + "obsolete_secondary polycythemia" "A673" "level of protein lin-7 homolog A in blood serum" "level of EH domain-containing protein 4 in blood serum" - "obsolete_secondary polycythemia" "bone tissue" "acquired lactic acidosis" "respiratory process" @@ -10499,8 +10499,8 @@ "TF1 cell" "Glycogen storage disease due to phosphoglucomutase deficiency" "sepiapterin reductase measurement" - "autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis" "obsolete_Johanson-Blizzard syndrome" + "autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis" "obsolete_high anorectal malformation" "C-type lectin domain family 6 member A measurement" "GM17758" @@ -10553,8 +10553,8 @@ "craniofrontonasal syndrome" "replicate design" "cardiotonic drug" - "X-11529 measurement" "obsolete_Cockayne syndrome type 1" + "X-11529 measurement" "Casuarina glauca" "serum IgG glycosylation measurement" "obsolete_autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation" @@ -10580,8 +10580,8 @@ "level of ferritin heavy chain in blood serum" "neuronal pentraxin-1" "F-actin-capping protein subunit beta" - "hepatocyte nuclear factor 4-alpha measurement" "TSA-seq" + "hepatocyte nuclear factor 4-alpha measurement" "suntan" "killer cell immunoglobulin-like receptor 3DL2 measurement" "human african trypanosomiasis" @@ -10656,24 +10656,24 @@ "level of calsequestrin-1 in blood serum" "coxopodopatellar syndrome" "phosphatidylcholine acyl-alkyl C44:6 measurement" - "noninfective encephalitis"@en "atypical coarctation of aorta" + "noninfective encephalitis"@en "innate immune response" "trait in response to cytarabine" + "obsolete_benign Samaritan congenital myopathy" "Rubinstein-Taybi syndrome" "milliliter" "R-spondin-1" "Solanum tuberosum" "Ambiguous genitalia" - "obsolete_benign Samaritan congenital myopathy" "pharyngeal squamous cell carcinoma" "level of endophilin-B1 in blood serum" - "monoblast" "X-linked intellectual disability - cardiomegaly - congestive heart failure" + "monoblast" + "perinatal jaundice due to hepatocellular damage" "glypican-2 measurement" "insulin secretion measurement" "Streptococcus sp. 'group A'" - "perinatal jaundice due to hepatocellular damage" "obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome" "short stature, oligodontia, dysmorphic facies, and motor delay" "tyrosinemia type III" @@ -10693,9 +10693,9 @@ "Harrod syndrome" "Age-related nuclear cataract" "level of secretoglobin family 3A member 1 in blood serum" + "leucine-rich repeat-containing protein 4B measurement" "OCI-M2" "triple functional domain protein" - "leucine-rich repeat-containing protein 4B measurement" "formin-binding protein 1" "Rare otorhinolaryngological malformation" "CRK-like protein measurement" @@ -10749,9 +10749,9 @@ "familial partial lipodystrophy" "level of 2-hydroxyacyl-CoA lyase 1 in blood serum" "Peptic ulcer perforation" + "metronidazole measurement" "obsolete_Huntington's disease" "NCI-H2347" - "metronidazole measurement" "Tc17 cell" "gist882" "spinal muscular atrophy with congenital bone fractures 1" @@ -10771,10 +10771,10 @@ "congenital generalized lipodystrophy" "beta-defensin 116" "creatine metabolic process" - "1-nonadecanoyl-GPC (19:0) measurement" "hair follicle dermal papilla cell" "fibroblast growth factor 7 measurement" "gamma-tocopherol" + "1-nonadecanoyl-GPC (19:0) measurement" "PHGDH deficiency" "SW1088" "renal artery disease" @@ -10873,8 +10873,8 @@ "lacrimal gland adenocarcinoma" "putative uncharacterized protein TXNRD3NB" "benign neoplasm of heart" - "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2I" "episodic ataxia type 2" + "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2I" "obsolete_Monosomy 13q14" "fetal genotype effect measurement" "acute laryngitis" @@ -10974,12 +10974,12 @@ "level of methyltransferase-like protein 11A in blood serum" "DNA dC->dU-editing enzyme APOBEC-3G measurement" "electroneutral sodium bicarbonate exchanger 1" - "caspase-8 measurement" "level of protein S100-A8 in blood serum" "Precursor Plasma Cell Count" + "caspase-8 measurement" "autosomal recessive severe congenital neutropenia" - "Porphyromonas gingivalis" "non-infectious anterior uveitis" + "Porphyromonas gingivalis" "blistering, acantholytic, of oral and laryngeal mucosa" "phosphatidylcholine diacyl C42:1 measurement" "level of interferon alpha-1/13 in blood serum" @@ -10996,8 +10996,8 @@ "gallbladder neuroendocrine neoplasm" "torsin-4A" "RPA-interacting protein" - "obsolete_plant component" "level of peptidyl-prolyl cis-trans isomerase FKBP14 in blood serum" + "obsolete_plant component" "primary avascular necrosis" "obsolete_6-phosphogluconate dehydrogenase deficiency" "obsolete_combined oxidative phosphorylation defect type 9" @@ -11071,8 +11071,8 @@ "vesicle membrane" "aromatase deficiency" "Hypotonia" - "benign recurrent intrahepatic cholestasis" "obsolete_benign recurrent intrahepatic cholestasis" + "benign recurrent intrahepatic cholestasis" "killer cell immunoglobulin-like receptor 2DL4 measurement" "proteasome assembly chaperone 3" "atopy" @@ -11097,13 +11097,13 @@ "tumor necrosis factor receptor II measurement" "morning glory syndrome" "lysophosphatidylethanolamine" - "obsolete_atypical hemolytic-uremic syndrome with anti-factor H antibodies" "ependymal tumor of spinal cord" - "fibroblast growth factor 10 measurement" + "obsolete_atypical hemolytic-uremic syndrome with anti-factor H antibodies" "blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome" - "pheochromocytoma-paraganglioma"@en + "fibroblast growth factor 10 measurement" "MOGS-congenital disorder of glycosylation" "methenyltetrahydrofolate synthase domain-containing protein" + "pheochromocytoma-paraganglioma"@en "level of leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 in blood serum" "level of ETS homologous factor in blood serum" "increased respiratory secretion" @@ -11261,17 +11261,17 @@ "obsolete_hyperkeratosis-hyperpigmentation syndrome" "lethal infantile mitochondrial myopathy" "Lui-Jee-Baron syndrome" - "geography-based population category"@en "central nervous system development" "octadecanoate" + "geography-based population category"@en "Drosophila santomea" - "Abnormal circulating glucose-6-phosphate dehydrogenase concentration" "Clostridium butyricum" "finishing sequencing assay" "endoplasmin" + "Abnormal circulating glucose-6-phosphate dehydrogenase concentration" "obsolete_duplication/inversion 15q11" - "clinical modifier"@en "GM17800" + "clinical modifier"@en "plasma clusterin measurement" "phosphatidylcholine O-44:5" "Hereditary myoclonus - progressive distal muscular atrophy" @@ -11315,21 +11315,21 @@ "Dyschondrosteosis - nephritis" "spondylocostal dysostosis" "Unilateral renal dysplasia" - "early endosome antigen 1 measurement" "chloride intracellular channel protein 5 measurement" "nephrotoxicity" "childhood testicular germ cell tumor" "obsolete_hereditary genetic disorder" "smoking status measurement" + "early endosome antigen 1 measurement" "ATP-binding cassette sub-family F member 3" "urinary tract smooth muscle contraction" "restrictive cardiomyopathy" "obsolete_long chain 3-hydroxyacyl-CoA dehydrogenase deficiency" "syntenin-1" "diquat" - "Developmental delay - deafness, Hildebrand type" "level of calsequestrin-2 in blood serum" "Increased blood urea nitrogen" + "Developmental delay - deafness, Hildebrand type" "acute myeloid leukemia, Trisomy 8" "Unilateral aplasia of the Müllerian ducts" "sphingomyeline C16:0 measurement" @@ -11339,18 +11339,18 @@ "inborn disorder of amino acid and other organic acid metabolism" "susceptibility to shingles measurement" "1-carboxyethyltyrosine measurement" + "Partial autosomal trisomy/tetrasomy" "leukoplakia of gingiva" + "obsolete_Becker nevus syndrome" "obsolete_atelosteogenesis type III" "fibular hemimelia, unilateral" "glypican-3 measurement" "Leukocytosis" "physical activity measurement" "Chlorocebus aethiops" - "Partial autosomal trisomy/tetrasomy" - "obsolete_Becker nevus syndrome" "otitis externa" - "Tessadori-Van Haaften neurodevelopmental syndrome 3" "obsolete microcephalic primordial dwarfism-insulin resistance syndrome" + "Tessadori-Van Haaften neurodevelopmental syndrome 3" "pili torti-onychodysplasia syndrome" "obsolete_photoallergic dermatitis" "level of malectin in blood serum" @@ -11366,8 +11366,8 @@ "malate(2-)" "hypospadias-intellectual disability, Goldblatt type syndrome" "in situ HiC" - "heterogeneous nuclear ribonucleoproteins C1/C2 measurement" "parathyroid hormone secretion" + "heterogeneous nuclear ribonucleoproteins C1/C2 measurement" "obsolete_autosomal dominant spastic ataxia" "obsolete_atrioventricular node" "erythroleukemia cell" @@ -11407,9 +11407,9 @@ "conjunctival pigmentation" "level of ferritin heavy polypeptide-like 17 in blood serum" "polymicrogyria" + "Genetic 46,XY disorder of sex development" "hyperinsulinemic hypoglycemia, familial, 2" "SW1116" - "Genetic 46,XY disorder of sex development" "RNA-binding region-containing protein 3" "level of E3 ubiquitin-protein ligase parkin in blood serum" "obsolete_Wolfram syndrome" @@ -11548,8 +11548,8 @@ "triple-A syndrome" "obsolete_Beta-propeller protein-associated neurodegeneration" "citrin deficiency" - "adipocyte plasma membrane-associated protein measurement" "FL.01 1/4 of flowers open stage" + "adipocyte plasma membrane-associated protein measurement" "scopolamine methobromide" "sleep-related hypermotor epilepsy" "mucinous neoplasm" @@ -11563,8 +11563,8 @@ "obsolete_abdominal aorta" "N-formylmethionine measurement" "spastic ataxia 1" - "Mv1Lu" "L-Histidine to Uric acid ratio" + "Mv1Lu" "pleomorphic rhabdomyosarcoma" "obsolete_lymphatic system" "obsolete_lethal Kniest-like dysplasia" @@ -11589,10 +11589,10 @@ "choroidal dystrophy, central areolar 2" "LP.04 four leaves visible stage" "acne" + "Short rib-polydactyly syndrome, Beemer-Langer type" "lung disease associated with cystic fibrosis" "myosin regulatory light chain 12B" "cholesteryl ester" - "Short rib-polydactyly syndrome, Beemer-Langer type" "L-ferritin deficiency" "obsolete_Rabson-Mendenhall syndrome" "Bacillus anthracis str. Sterne" @@ -11632,8 +11632,8 @@ "Pyropoikilocytosis" "MM485 cell" "obsolete_tufted angioma" - "gonadal dysgenesis" "X-Linked Combined Immunodeficiency Diseases" + "gonadal dysgenesis" "thiopurine methyltransferase activity measurement" "phosphatidylcholine diacyl C42:2 measurement" "2-methoxyacetaminophen sulfate measurement" @@ -11662,8 +11662,8 @@ "neural cell adhesion molecule 1" "vesicle-associated membrane protein 3 measurement" "meningitis caused by poliovirus" - "Vigna unguiculata subsp. unguiculata" "obsolete_posterior lateral plate mesoderm" + "Vigna unguiculata subsp. unguiculata" "level of X antigen family member 2 in blood serum" "Hydroureter" "gallbladder lymphoma" @@ -11711,8 +11711,8 @@ "Fc receptor-like protein 5 measurement" "norrin" "intellectual disability-brachydactyly-Pierre Robin syndrome" - "obsolete_Denys-Drash syndrome" "obsolete_Bencze syndrome" + "obsolete_Denys-Drash syndrome" "integrator complex subunit 3" "Porphyria variegata" "mesoaxial synostotic syndactyly with phalangeal reduction" @@ -11783,8 +11783,8 @@ "kininogen-1 measurement" "MEGF10-related myopathy" "obsolete_Beckwith-Wiedemann syndrome due to imprinting defect of 11p15" - "Ascending aortic dissection" "Lethal neonatal spasticity-epileptic encephalopathy syndrome" + "Ascending aortic dissection" "obsolete_focal palmoplantar keratoderma" "alpha granule disease" "myocilin" @@ -11794,10 +11794,10 @@ "kernicterus due to isoimmunization" "Thr-Phe" "obsolete_X-linked complicated spastic paraplegia type 1" - "DNA excision repair protein ERCC-1 measurement" "autoantibody measurement" "exocrine pancreatic insufficiency" "memory" + "DNA excision repair protein ERCC-1 measurement" "keratosis follicularis-dwarfism-cerebral atrophy syndrome" "alcohol-induced mental disorder" "lipoma of the rectum" @@ -11832,8 +11832,8 @@ "obsolete_hip dysplasia, Beukes type" "Deltaretrovirus Infections" "Rhabditida infectious disease" - "ubiquitin-like protein 3" "level of SPARC-related modular calcium-binding protein 2 in blood serum" + "ubiquitin-like protein 3" "magnesium ion homeostasis" "blood coagulation" "obsolete_glycogen storage disease due to phosphoglycerate kinase 1 deficiency" @@ -11912,8 +11912,8 @@ "oxoglutarate measurement" "soluble gp130 measurement"@en "catecholaminergic polymorphic ventricular tachycardia 4" - "peanut allergy measurement" "GM07056" + "peanut allergy measurement" "patellar tendinitis" "Scleroderma" "SLBS" @@ -11942,11 +11942,11 @@ "obsolete_cervix" "obsolete_mosaic trisomy 10" "GRO-seq" + "Anemia due to adenosine triphosphatase deficiency" "guttate psoriasis" "CTS (Concatenated Tag Sequencing)" - "Anemia due to adenosine triphosphatase deficiency" - "GM17801" "cerebrospinal fluid clusterin measurement" + "GM17801" "level of high mobility group protein B3 in blood serum" "phosphatidylcholine O-44:4" "anterior horn disorder" @@ -11991,9 +11991,9 @@ "mCT-seq" "transmembrane gamma-carboxyglutamic acid protein 1 measurement" "Rho guanine nucleotide exchange factor 1" - "Microblepharon - ablephara" "23132/87" "isolated congenital hypogonadotropic hypogonadism" + "Microblepharon - ablephara" "long term hematopoietic stem cell" "ACHN" "sphingomyeline C16:1 measurement" @@ -12032,11 +12032,11 @@ "Dysequilibrium syndrome" "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells" "neurotoxicity" - "obsolete rare disease with dentinogenesis imperfecta" "induced pluripotent stem cell" + "obsolete rare disease with dentinogenesis imperfecta" + "level of dermokine in blood serum" "pili bifurcati" "cataract 5 multiple types" - "level of dermokine in blood serum" "level of prosaposin receptor GPR37 in blood serum" "hereditary fructose intolerance" "obsolete_arrhythmogenic right ventricular cardiomyopathy" @@ -12093,8 +12093,8 @@ "combined oxidative phosphorylation deficiency 48" "viral conjunctivitis" "tracheitis" - "polyp of middle ear" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" + "polyp of middle ear" "positive regulation of gastric acid secretion" "level of pancreatic lipase-related protein 2 in blood serum" "carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1" @@ -12165,8 +12165,8 @@ "level of synphilin-1 in blood serum" "chondroitin sulfate N-acetylgalactosaminyltransferase 2 measurement" "level of adhesion G-protein coupled receptor F2 in blood serum" - "Kayser-Fleischer ring" "early placenta insulin-like peptide measurement" + "Kayser-Fleischer ring" "Bilateral renal dysplasia" "obsolete_body ganglion" "multiple chemical sensitivity" @@ -12175,9 +12175,9 @@ "level of Cas scaffolding protein family member 4 in blood serum" "obsolete_Distal monosomy 10q" "obsolete_X-linked intellectual disability, Brooks type" - "proteasome-associated autoinflammatory syndrome 3" "obsolete_bilateral parasagittal parieto-occipital polymicrogyria" "obsolete_frontal encephalocele" + "proteasome-associated autoinflammatory syndrome 3" "level of 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial in blood serum" "medial collateral ligament" "Gastric Hamartomatous Polyp" @@ -12277,9 +12277,9 @@ "uncharacterized protein C19orf84" "small nuclear ribonucleoprotein Sm D2" "myelin regulatory factor measurement" - "LM-Seq" "haemopoietic system cell line" "beta-defensin 119" + "LM-Seq" "regulation of cell adhesion" "Vitis vinifera" "fibroblast growth factor 8 isoform b measurement" @@ -12382,9 +12382,9 @@ "voltage-dependent L-type calcium channel subunit beta-3" "mitogen-activated protein kinase 11 measurement" "prostate neuroendocrine neoplasm" - "hereditary lethal multiple congenital anomalies/dysmorphic syndrome" "salicylic acid" "ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome" + "hereditary lethal multiple congenital anomalies/dysmorphic syndrome" "10x 3' v4"@en "benign neoplasm of cornea" "dilated cardiomyopathy 3B" @@ -12459,10 +12459,10 @@ "Skin rash" "blepharophimosis-epicanthus inversus-ptosis due to copy number variations" "obsolete_Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency" - "obsolete_Infantile neuroaxonal dystrophy" "fibroblast growth factor 16 measurement" "X-21467 measurement"@en "level of Bcl-2-modifying factor in blood serum" + "obsolete_Infantile neuroaxonal dystrophy" "blood N-acetylproline measurement" "Genetic syndrome with a Dandy-Walker malformation as major feature" "Quant-seq" @@ -12492,12 +12492,12 @@ "Abnormal ciliary motility" "aortic valve disease" "Craniosynostosis - fibular aplasia" - "Kimura disease" "hydroxytetradecenoylcarnitine measurement" + "Kimura disease" "cholesteryl ester 24:5 measurement" - "growth arrest-specific protein 1 measurement" "colchicine" "HIV-1 infection" + "growth arrest-specific protein 1 measurement" "level of N6-adenosine-methyltransferase catalytic subunit in blood serum" "geleophysic dysplasia" "DNA polymerase eta measurement" @@ -12607,8 +12607,8 @@ "obsolete aortic malformation" "obsolete_Activated PIK3-delta syndrome" "cleavage 32-cell" - "lormetazepam measurement" "Caliciviridae infectious disease" + "lormetazepam measurement" "peroxisome biogenesis disorder 14B" "leucine-rich repeat-containing protein 59" "GM07345" @@ -12824,9 +12824,9 @@ "malnutrition" "trench fever" "N2,N2-dimethylguanosine measurement" + "endothelial dysfunction" "dilated cardiomyopathy 1CC" "red light regimen" - "endothelial dysfunction" "thyroid gland angiosarcoma" "N-terminal EF-hand calcium-binding protein 1" "Short neck" @@ -12932,17 +12932,17 @@ "cell adhesion molecule 4 measurement" "bursa of Fabricius" "obsolete_stigma" - "obsolete autosomal dominant hereditary sensory and autonomic neuropathy" "1-palmitoyl-2-eicosapentaenoyl-GPE (16:0/20:5) measurement" - "pyruvate kinase PKLR" + "obsolete autosomal dominant hereditary sensory and autonomic neuropathy" "synaptosomal-associated protein 25 measurement" + "pyruvate kinase PKLR" "level of adhesion G protein-coupled receptor B1 in blood serum" "odonto-onycho-dermal dysplasia" "macrodactyly of fingers, bilateral" "N-acetylaspartic acid measurement" + "thrombospondin-4 measurement" "level of E3 ubiquitin-protein ligase TRIM21 in blood serum" "N-acetylmuramoyl-L-alanine amidase" - "thrombospondin-4 measurement" "tuberculosis" "level of amyloid beta precursor like protein 1 in blood serum" "obsolete_familial infantile bilateral striatal necrosis" @@ -12974,24 +12974,24 @@ "level of calpain-2 catalytic subunit in blood serum" "neuromuscular disorder, congenital, with dysmorphic facies" "Collimonas" + "Renal tubulopathy - encephalopathy - liver failure" "obsolete hypotonia-speech impairment-severe cognitive delay syndrome" "parasitic ectoparasitic infectious disease" "assay by high throughput sequencer" "hemophilia b leyden" - "Renal tubulopathy - encephalopathy - liver failure" "nutritional biotin deficiency" "disorder of defective peroxisomal and mitochondrial fission" "DDX41-related hematologic malignancy predisposition syndrome" - "obsolete_corticobasal degeneration" - "chikungunya virus seropositivity" "Branchio-skeleto-genital syndrome" - "BOR syndrome" + "chikungunya virus seropositivity" + "obsolete_corticobasal degeneration" "trafficking protein particle complex subunit 4" + "BOR syndrome" "perphenazine maleate measurement" + "X-23739 measurement" "chondrosarcoma-associated gene 1 protein" "babesiosis" "Oryzias latipes" - "X-23739 measurement" "cortical surface area measurement"@en "obsolete_thymus primordium" "myofibrillar myopathy 8" @@ -13037,8 +13037,8 @@ "neurofaciodigitorenal syndrome" "gigaxonin" "obsolete_partial deletion of the short arm of chromosome 19" - "Syringocystadenoma Papilliferum" "inborn disorder of porphyrin metabolism" + "Syringocystadenoma Papilliferum" "hyocholic acid" "neuromuscular disease and ocular or auditory anomalies with or without seizures" "coloboma of superior eyelid" @@ -13093,8 +13093,8 @@ "sotalol" "level of nuclear factor of activated T-cells, cytoplasmic 4 in blood serum" "level of proteasome subunit alpha type-7 in blood serum" - "fetal and adult testis-expressed transcript protein measurement" "response to biological dust exposure" + "fetal and adult testis-expressed transcript protein measurement" "anophthalmia-microphthalmia syndrome" "calcium-binding and coiled-coil domain-containing protein 2" "5-oxoproline measurement" @@ -13108,8 +13108,8 @@ "radioulnar synostosis-microcephaly-scoliosis syndrome" "Ectodermal dysplasia - blindness" "radiculopathy" - "level of chondroitin sulfate N-acetylgalactosaminyltransferase 2 in blood serum" "HLA class II histocompatibility antigen, DM alpha chain measurement" + "level of chondroitin sulfate N-acetylgalactosaminyltransferase 2 in blood serum" "CMK" "U-87 MG" "level of pantothenate kinase 3 in blood serum" @@ -13178,15 +13178,15 @@ "obsolete_spondylometaphyseal dysplasia, Sedaghatian type" "level of voltage-gated potassium channel subunit beta-2 in blood serum" "uvea" + "leg dermatosis" "tetradecadienylcarnitine measurement" "level of adhesion G protein-coupled receptor B3 in blood serum" - "leg dermatosis" "giant axonal neuropathy" "level of gastric inhibitory polypeptide in blood serum" "volumetric brain MRI" "DNA polymerase iota measurement" - "level of procollagen C-endopeptidase enhancer 2 in blood serum" "intracranial hemangioma" + "level of procollagen C-endopeptidase enhancer 2 in blood serum" "mucinous cystadenofibroma" "protein max" "obsolete_dorsal metathoracic disc" @@ -13205,8 +13205,8 @@ "inflammatory poikiloderma with hair abnormalities and acral keratoses" "campesterol measurement"@en "4-Guanidinobutyric acid measurement" - "uncharacterized protein KIAA2013" "AIDS-Related Primary Central Nervous System Lymphoma" + "uncharacterized protein KIAA2013" "blood 2,2'-Methylenebis(6-tert-butyl-p-cresol) measurement" "CC16 measurement" "level of cadherin-23 in blood serum" @@ -13222,9 +13222,9 @@ "interleukin-17 receptor A measurement" "cholesteryl ester 24:6 measurement" "head and neck squamous cell carcinoma" - "obsolete_mesomelic and rhizo-mesomelic dysplasia" "growth hormone receptor measurement" "level of microfibrillar-associated protein 1 in blood serum" + "obsolete_mesomelic and rhizo-mesomelic dysplasia" "indole-3-carboxylic acid" "X-24544 measurement" "phosphoenolpyruvate carboxykinase, cytosolic [GTP]" @@ -13321,9 +13321,9 @@ "obsolete_pharyngeal pouch 1" "biliary tract disease" "octadecadienylcarnitine measurement" + "level of protein mago nashi in blood serum" "xanthinuria type II" "Rhabditinae" - "level of protein mago nashi in blood serum" "arthrogryposis, distal, type 2B4" "DNA repair endonuclease XPF measurement" "Genetic neuromuscular junction disease" @@ -13354,8 +13354,8 @@ "level of alpha-actinin-2 in blood serum" "hereditary spastic paraplegia 39" "lymphogranuloma venereum" - "obsolete_essential strabismus" "in-situ hybridization assay" + "obsolete_essential strabismus" "CITE-seq (sample multiplexing)" "obsolete accelerated tumor formation, susceptibility to" "obsolete_paternal uniparental disomy of chromosome 13" @@ -13448,8 +13448,8 @@ "Syndrome associated with Pierre Robin syndrome" "3-ureidopropionate measurement"@en "Digenome-seq" - "vitreous humor" "lysine-specific demethylase 4C" + "vitreous humor" "hemoglobinopathy" "obsolete_high bone mass osteogenesis imperfecta" "level of ubiquitin-conjugating enzyme E2 Q1 in blood serum" @@ -13480,8 +13480,8 @@ "Illumina native fastq format" "sialolithiasis" "membrane protein FAM174B measurement" - "GM17803" "Linear IgA Dermatosis" + "GM17803" "embryonic midgut interstitial cell" "SBC-3" "level of kinesin-like protein KIF3C in blood serum" @@ -13568,9 +13568,9 @@ "long QT syndrome 3" "otosclerosis" "cartilage disease" - "megalodactyly" - "Desulfovibrio alaskensis G20" "level of ceramide phosphoethanolamine in blood serum" + "Desulfovibrio alaskensis G20" + "megalodactyly" "VirScan" "level of nesprin-2 in blood serum" "obsolete_biliary atresia" @@ -13731,8 +13731,8 @@ "obsolete_1p21.3 microdeletion syndrome" "aniridia-cerebellar ataxia-intellectual disability syndrome" "coxsackievirus seropositivity" - "adult malignant hemangiopericytoma" "neuroblastoma, susceptibility to, 1" + "adult malignant hemangiopericytoma" "X-23780 measurement" "autoinflammation with episodic fever and lymphadenopathy" "chromosome 4 disorder" @@ -13853,9 +13853,9 @@ "Camptodactyly - tall stature - scoliosis - hearing loss" "thrombospondin type-1 domain-containing protein 7A measurement" "phosphatidylinositol 5-phosphate 4-kinase type-2 alpha measurement" - "Neuro-2a" "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" "cot filtration for highly repetitive genomic DNA" + "Neuro-2a" "tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria" "obsolete_lymph vessel" "Aortic Coarctation" @@ -13868,8 +13868,8 @@ "obsolete_lethal omphalocele-cleft palate syndrome" "myocardial zonula adherens protein measurement" "obsolete_Marie Unna hereditary hypotrichosis" - "obsolete_Coffin-Siris syndrome" "breast cancer cell line" + "obsolete_Coffin-Siris syndrome" "m1A mapping" "obsolete_common mesentery" "Preauricular pit" @@ -13995,10 +13995,10 @@ "chromosome 22q11.2 microduplication syndrome" "basal cell of epidermis" "hemangioma of peripheral nerve" + "pregnancy-specific beta-1-glycoprotein 3 measurement" "Methylation Spanning Linker Library (MSLL) processing" "Zoarces viviparus" "Frac-Seq" - "pregnancy-specific beta-1-glycoprotein 3 measurement" "freeze dried specimen" "mitochondrial import inner membrane translocase subunit Tim8 A" "obsolete_paralytic facial malformation" @@ -14060,9 +14060,9 @@ "serine--tRNA ligase, mitochondrial" "Steatocystoma multiplex - natal teeth" "obsolete_trisomy 4p" + "blood ethylparaben sulfate measurement" "ethylmalonate measurement"@en "level of bone morphogenetic protein 15 in blood serum" - "blood ethylparaben sulfate measurement" "4-Hydroxybenzaldehyde measurement" "carcinogenicity" "protocadherin gamma-A1" @@ -14142,8 +14142,8 @@ "docosahexaenoic acid to total fatty acids percentage " "helper T cell" "epidermal growth factor receptor kinase substrate 8-like protein 1" - "level of proteasome subunit beta type-2 in blood serum" "obsolete_otodental syndrome" + "level of proteasome subunit beta type-2 in blood serum" "brain germinoma" "obsolete_SERKAL syndrome" "bone marrow cancer" @@ -14160,22 +14160,22 @@ "Calf muscle hypertrophy" "famotidine" "hatipoglu immunodeficiency syndrome" - "obsolete_occipital pachygyria and polymicrogyria" "dihydropyrimidinuria" - "hypertensive encephalopathy" "partial duplication of the long arm of chromosome 10" "autosomal recessive ataxia due to PEX10 deficiency" - "integrin alpha-V: beta-5 complex measurement" + "obsolete_occipital pachygyria and polymicrogyria" + "hypertensive encephalopathy" "ribose-phosphate pyrophosphokinase 2" + "integrin alpha-V: beta-5 complex measurement" "pterygium" "lymphoplasmacytic lymphoma" - "mandibular cancer" "acquired hemoglobinopathy" + "mandibular cancer" "level of ubiquitin-conjugating enzyme E2 Q2 in blood serum" - "cup-to-disc ratio measurement" "progressive cerebello-cerebral atrophy" - "Ly49D-negative natural killer cell, mouse" + "cup-to-disc ratio measurement" "FVB"@en + "Ly49D-negative natural killer cell, mouse" "telencephalic ventricle" "simvastatin" "adenomyoma" @@ -14299,11 +14299,11 @@ "otospondylomegaepiphyseal dysplasia, autosomal dominant" "copy number assessment" "hyperlipoproteinemia" - "testosterone measurement" + "EF-hand calcium-binding domain-containing protein 14 measurement" "C4BP measurement" + "testosterone measurement" "GM02783" "leukocyte adhesion deficiency 1" - "EF-hand calcium-binding domain-containing protein 14 measurement" "day" "obsolete_tetrasomy X" "X-linked intellectual disability-spastic quadriparesis syndrome" @@ -14315,8 +14315,8 @@ "melanoma-derived growth regulatory protein measurement" "encounter with health service related to reproduction" "obsolete_lysosomal storage disease with skeletal involvement" - "aggrecan core protein measurement" "obsolete_bilateral frontal polymicrogyria" + "aggrecan core protein measurement" "negative regulation of immune response" "granzyme h measurement" "viral myositis" @@ -14456,8 +14456,8 @@ "obsolete_Pelizaeus-Merzbacher disease, transitional form" "obsolete_glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form" "renal tubule disease" - "nemaline myopathy 5C, autosomal dominant" "level of leucine-rich repeat and fibronectin type-III domain-containing protein 4 in blood serum" + "nemaline myopathy 5C, autosomal dominant" "lung epithelium" "upper lobe of right lung" "eyeball of camera-type eye" @@ -14473,8 +14473,8 @@ "Cryptopygus antarcticus" "Anopheles arabiensis" "marasmus" - "BRICHOS domain-containing protein 5 measurement" "endometrial stromal tumor" + "BRICHOS domain-containing protein 5 measurement" "MEL-GATA-1-ER" "central brain anlage" "sphingomyelin 16:1" @@ -14579,9 +14579,9 @@ "Ochoa syndrome" "apolipoprotein C-II" "obsolete 46,XX sex reversal 1" - "Torticollis - keloids - cryptorchidism - renal dysplasia" "alanine glyoxylate aminotransferase deficiency" "Mycoplasma pneumoniae pneumonia" + "Torticollis - keloids - cryptorchidism - renal dysplasia" "microvascular complications of diabetes, susceptibility to, 4" "global developmental delay, progressive ataxia, and elevated glutamine" "tubulin--tyrosine ligase" @@ -14600,12 +14600,12 @@ "targeted mutation" "2-oxoglutarate(2-)" "high content screen" + "M6A-RIP" + "level of centrosomal protein 43 in blood serum" "eccrine sweat gland neoplasm" "split hand, unilateral" "phospholipid" "stem cell derived cell line" - "M6A-RIP" - "level of centrosomal protein 43 in blood serum" "opportunistic systemic mycosis" "neuroepithelial cell-transforming gene 1 protein" "level of potassium voltage-gated channel subfamily E member 3 in blood serum" @@ -14653,10 +14653,10 @@ "level of regenerating islet-derived protein 3-gamma in blood serum" "ubiquinone biosynthetic process" "level of tetratricopeptide repeat protein 9A in blood serum" - "obsolete_mesomelic dwarfism, Nievergelt type" "obsolete_4-hydroxybutyric aciduria" - "immunoglobulin lambda-like polypeptide 1 measurement" + "obsolete_mesomelic dwarfism, Nievergelt type" "sulfate transporter-related osteochondrodysplasia"@en + "immunoglobulin lambda-like polypeptide 1 measurement" "infantile-onset mesial temporal lobe epilepsy with severe cognitive regression" "benign neoplasm of neck" "obsolete_pharyngeal arch cartilage" @@ -14721,16 +14721,16 @@ "obsolete_Partington syndrome" "macular dystrophy with or without cone dysfunction" "obsolete_familial thrombocytosis" - "obsolete_campomelic dysplasia" "Kidney Cyst" "RDH5-related retinopathy" "level of Ceramide (d40:2) in blood serum" "high content screen of cells in a gene deletion library" "level of lymphocyte antigen 75 isoform 4 and LY75-CD302 fusion isoforms V34-2/V33-2 (human) in blood serum" "CS57560" + "obsolete_campomelic dysplasia" + "obsolete_COFS syndrome" "Hypertyrosinemia" "sialic acid-binding Ig-like lectin 12 measurement" - "obsolete_COFS syndrome" "level of apolipoprotein C-III in blood serum" "GCT" "general transcription factor IIF subunit 2" @@ -14760,10 +14760,10 @@ "E3 ISG15--protein ligase HERC5" "level of Xaa-Pro aminopeptidase 3 in blood serum" "gRNA-seq" + "obsolete_congenital amegakaryocytic thrombocytopenia" "L-urobilin measurement" "transitional cell neoplasm" "Charcot-Marie-Tooth disease, dominant intermediate G" - "obsolete_congenital amegakaryocytic thrombocytopenia" "ectodermal dysplasia and immune deficiency" "Genetic urogenital tract malformation" "obsolete_fin bud" @@ -14787,8 +14787,8 @@ "cerebral sarcoma" "creatine" "flavin-containing monooxygenase 3" - "X-24571 measurement" "central hearing loss" + "X-24571 measurement" "ChIP-chip by array" "Hypogonadotropic hypogonadism - retinitis pigmentosa" "distal 7q11.23 microdeletion syndrome" @@ -14887,8 +14887,8 @@ "glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form" "ureter tuberculosis" "obsolete_autosomal recessive frontotemporal pachygyria" - "level of NAD kinase 2, mitochondrial in blood serum" "obsolete Bartter disease type 1" + "level of NAD kinase 2, mitochondrial in blood serum" "operator variation" "GM11830" "B-cell antigen receptor complex-associated protein alpha chain measurement" @@ -14920,8 +14920,8 @@ "n-terminal Xaa-Pro-Lys N-methyltransferase 1 measurement" "level of mucosa-associated lymphoid tissue lymphoma translocation protein 1 in blood serum" "level of carbohydrate sulfotransferase 10 in blood serum" - "alternating hemiplegia of childhood 2" "obsolete multiple epiphyseal dysplasia and pseudoachondroplasia" + "alternating hemiplegia of childhood 2" "obsolete_genetic peripheral neuropathy" "level of Rho GTPase-activating protein 45 in blood serum" "benign eccrine neoplasm" @@ -14965,15 +14965,15 @@ "inherited dystonia" "obsolete_frontal lobe" "fornix volume measurement"@en - "obsolete_autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "myofibrillar myopathy 4" "melanoma, cutaneous malignant, susceptibility to, 2" "obsolete_hypertelorism-preauricular sinus-punctual pits-deafness syndrome" + "obsolete_autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "Epithelioid Cell Uveal Melanoma" - "obsolete_macrodactyly of fingers, bilateral" "obsolete_hereditary hypophosphatemic rickets with hypercalciuria" "level of synaptojanin-2-binding protein in blood serum" "thyroid hormone metabolism, abnormal" + "obsolete_macrodactyly of fingers, bilateral" "Pearson syndrome" "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" "brain density measurement"@en @@ -15032,8 +15032,8 @@ "Papaver somniferum" "3-aminophenol" "hypophosphatemic nephrolithiasis/osteoporosis 1" - "Cleft lip/palate - deafness - sacral lipoma" "Benign Renal Pelvis Neoplasm" + "Cleft lip/palate - deafness - sacral lipoma" "tyrosine change measurement" "Increased circulating IgE level" "anterior segment dysgenesis" @@ -15047,8 +15047,8 @@ "1,7-dimethylurate measurement"@en "succinate(1-)" "level of lysophosphatidylserine lipase ABHD12 in blood serum" - "obsolete_hereditary painful callosities" "obsolete_genochondromatosis type 2" + "obsolete_hereditary painful callosities" "SCH" "protein ABHD14A" "N-carbamoyl-beta-alanine measurement" @@ -15087,8 +15087,8 @@ "systemic mycosis" "type 1 diabetes nephropathy" "mirror movements 2" - "switch-associated protein 70 measurement" "autosomal dominant pure spastic paraplegia" + "switch-associated protein 70 measurement" "Alexandrium tamarense" "adult central nervous system germinoma" "KYSE30" @@ -15135,13 +15135,13 @@ "obsolete_isolated Dandy-Walker malformation without hydrocephalus" "viral RNA data" "Gliosis" + "obsolete_corneal-cerebellar syndrome" "Non-dystrophic myopathy with collagen 6 anomaly" "Appendix Adenocarcinoma" "hepatic and glial cell adhesion molecule" - "obsolete_corneal-cerebellar syndrome" "obsolete_mucopolysaccharidosis type 6, rapidly progressing" - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1" "KBM-3"@en + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1" "protein Spindly" "mastitis" "CEM/C1" @@ -15176,15 +15176,15 @@ "mitochondrial DNA depletion syndrome 16 (hepatic type)" "obsolete_infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome" "probable G-protein coupled receptor 135 measurement" - "malignant phyllodes tumor" "Patski" + "malignant phyllodes tumor" "Long toe" + "obsolete_progressive deafness with stapes fixation" "sphingomyelin 18:0" "craniomicromelic syndrome" "toxic epidermal necrolysis" "episodic ataxia type 8" "FAIRE-seq" - "obsolete_progressive deafness with stapes fixation" "sarcoplasmic/endoplasmic reticulum calcium ATPase 3 measurement" "calcipressin-1" "obsolete neuro-ophthalmological disease" @@ -15265,8 +15265,8 @@ "T-cell surface glycoprotein CD1c" "conjunctivitis" "Arbovirus Infections" - "GM14533" "congenital nonspherocytic hemolytic anemia" + "GM14533" "ectonucleotide pyrophosphatase/phosphodiesterase family member 7 measurement" "level of melanoma-associated antigen 4 in blood serum" "N-methylnicotinate" @@ -15323,8 +15323,8 @@ "ND00268" "spastic paraplegia, optic atropy, and neuropathy" "NCI-H1092" - "level of fibroblast growth factor receptor-like 1 in blood serum" "obsolete_Kleefstra syndrome" + "level of fibroblast growth factor receptor-like 1 in blood serum" "response to neuromuscular blocker" "infectious disease characteristic" "1182-4H" @@ -15336,8 +15336,8 @@ "Guanarito virus" "level of gap junction delta-2 protein in blood serum" "Abnormal cardiac atrium morphology" - "Epidermolysis bullosa simplex, Ogna type" "Estrogen resistance syndrome" + "Epidermolysis bullosa simplex, Ogna type" "SCP2 sterol-binding domain-containing protein 1 measurement" "Yersinia pestis" "gonadal agenesis" @@ -15373,10 +15373,10 @@ "Flavobacteriaceae Infections" "complement C3B measurement" "Double inlet left ventricle" - "1-arachidonoyl-GPE (20:4n6) measurement" "type II diabetes mellitus with acanthosis nigricans" - "level of secretory carrier-associated membrane protein 5 in blood serum" + "1-arachidonoyl-GPE (20:4n6) measurement" "gastric outlet obstruction" + "level of secretory carrier-associated membrane protein 5 in blood serum" "histone acetyltransferase kat6a measurement" "level of heat shock protein HSP 90-alpha in blood serum" "level of proteasome subunit beta type-3 in blood serum" @@ -15448,10 +15448,10 @@ "Skin detachment" "hemorrhage" "short rib-polydactyly syndrome, Majewski type" - "neurodegeneration with brain iron accumulation 8" "Autosomal dominant Charcot-Marie-Tooth disease type 2L" - "tyrosine-protein phosphatase non-receptor type 6 measurement" "obsolete_platyspondylic dysplasia, Torrance type" + "neurodegeneration with brain iron accumulation 8" + "tyrosine-protein phosphatase non-receptor type 6 measurement" "2'-5'-oligoadenylate synthase 1 measurement" "spondyloepimetaphyseal dysplasia, matrilin-3 type" "astaxanthin measurement" @@ -15492,14 +15492,14 @@ "4-Pyridoxic acid measurement" "obsolete_thyroid hypoplasia" "fibronectin measurement" - "obsolete_Tay-Sachs disease, b variant, adult form" "shRNA-seq" "obsolete isolated Klippel-Feil syndrome" + "obsolete_Tay-Sachs disease, b variant, adult form" "ovarian serous tumor" "Charcot-Marie-Tooth disease type 4F" - "X-linked severe congenital neutropenia" "laryngeal sarcoma" "neurogenic palpebral tumor" + "X-linked severe congenital neutropenia" "immunoglobulin superfamily member 8" "obsolete_pelvic fin bud" "obsolete_STT3A-CDG" @@ -15526,8 +15526,8 @@ "X-24574 measurement" "methylation profiling by high throughput sequencing" "anterior compartment syndrome" - "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" "porencephaly-microcephaly-bilateral congenital cataract syndrome" + "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" "multiple epiphyseal dysplasia, Al-Gazali type" "Hepatosplenomegaly" "central nervous system endodermal sinus tumor" @@ -15575,9 +15575,9 @@ "diacylglycerol (14:0/18:1, 16:0/16:1) [2] measurement" "abdominal fat ratio"@en "QRS amplitude" - "palmitoylcarnitine measurement" "dermal dendritic cell" "brain acid soluble protein 1" + "palmitoylcarnitine measurement" "Glucocorticoid use measurement" "obsolete_bleeding diathesis due to thromboxane synthesis deficiency" "Niemann-Pick disease" @@ -15622,8 +15622,8 @@ "obsolete_Camurati-Engelmann disease" "glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form" "Gait imbalance" - "obsolete_median nodule of the upper lip" "level of glycosaminoglycan xylosylkinase in blood serum" + "obsolete_median nodule of the upper lip" "differential expression analysis data" "myristate 14:0-to-myristoleate 14:1n5 ratio" "Rab11 family-interacting protein 3" @@ -15702,10 +15702,10 @@ "chondrogenic neoplasm" "caudal anterior cingulate cortex volume measurement"@en "NOIR" + "level of fascin in blood serum" "Abnormality of refraction" "ENCODE cell line" "Dysphagia" - "level of fascin in blood serum" "killer cell immunoglobulin-like receptor 2DS4" "Sg4" "neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities" @@ -15716,15 +15716,15 @@ "childhood epilepsy with centrotemporal spikes" "immature NK T cell stage I" "level of 26S proteasome non-ATPase regulatory subunit 9 in blood serum" - "mitochondrial import inner membrane translocase subunit Tim23" "obsolete_megalencephalic leukoencephalopathy with subcortical cysts" + "mitochondrial import inner membrane translocase subunit Tim23" "GM23338" "calcium-binding protein 8" "3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial" - "allograft inflammatory factor 1 measurement" "hematopoietic lineage cell-specific protein" "obsolete_labial sensory complex primordium" "Theiler stage 21" + "allograft inflammatory factor 1 measurement" "Developmental delay with variable intellectual impairment and behavioural abnormalities"@en "obsolete_anguloarticular" "sweetening agent" @@ -15754,9 +15754,9 @@ "Rare genetic odontologic disease" "putative protein-lysine deacylase ABHD14B" "obsolete_epilepsy syndrome" - "obsolete_hepatoerythropoietic porphyria" "level of DnaJ homolog subfamily B member 13 in blood serum" "oropharynx squamous cell carcinoma" + "obsolete_hepatoerythropoietic porphyria" "obsolete_fat body sensu invertebrata" "level of PRKCA-binding protein in blood serum" "R-6-Hydroxywarfarin" @@ -15782,9 +15782,9 @@ "CLASH" "3T3-F442A" "level of PRKC apoptosis WT1 regulator protein in blood serum" + "Epidermolysis bullosa simplex with circinate migratory erythema" "Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency" "3-4-hydroxyphenyl lactate-to-alpha-hydroxyisovalerate ratio"@en - "Epidermolysis bullosa simplex with circinate migratory erythema" "maxillary sinus inverted papilloma" "retinal edema" "Genetic skeletal muscle disease" @@ -15805,10 +15805,10 @@ "obsolete_congenital myasthenic syndromes with glycosylation defect" "translin measurement" "fatal familial insomnia" - "Pavo cristatus" "Qualitative or quantitative defects of collagen 6" - "level of ubiquitin carboxyl-terminal hydrolase 8 in blood serum" "glycylvaline measurement" + "Pavo cristatus" + "level of ubiquitin carboxyl-terminal hydrolase 8 in blood serum" "interleukin-23 measurement" "laurin-Sandrow syndrome" "GM17793" @@ -15825,22 +15825,22 @@ "neoplasm of temporal lobe" "cotyledon abaxial epidermis" "autosomal recessive complex spastic paraplegia" - "small intestine Peyer's patch T cell" "Wieacker-Wolff syndrome (spectrum)" - "Fc receptor-like protein 3 measurement" + "small intestine Peyer's patch T cell" "Kasumi2" - "skin infection" + "Fc receptor-like protein 3 measurement" "killer cell immunoglobulin-like receptor 3DL1" + "skin infection" "disorder of manganese transport" "Kabuki syndrome" "tiller" "malignant tumor of palpebral epidermis" "response to methazolamide"@en "Pulmonary capillary hemangiomatosis" - "Paraganglioma" "tumor necrosis factor receptor superfamily member 10D measurement" "developmental and epileptic encephalopathy 100" "4-fluoro-N-{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl}benzamide hydrochloride" + "Paraganglioma" "3-hydroxyoctanoate measurement" "thoracic aortic raised atherosclerotic lesion" "acquired hemangioma" @@ -15874,11 +15874,11 @@ "response to ranibizumab" "testis-expressed protein 30" "Appendix Adenoma" - "hephaestin" "isocitrate measurement"@en + "hephaestin" "Hemiplegia/hemiparesis" - "level of collagen alpha-5(VI) chain in blood serum" "maxillary sinus neoplasm" + "level of collagen alpha-5(VI) chain in blood serum" "obsolete_isolated craniosynostosis" "brorin measurement" "level of cyclin-dependent kinase inhibitor 3 in blood serum" @@ -16000,9 +16000,9 @@ "DCN1-like protein 3" "retroarticular" "autosomal dominant wooly hair" - "Sickle cell - hemoglobin E disease" "elongation factor 1-beta measurement" "level of putative melanoma-associated antigen 5P in blood serum" + "Sickle cell - hemoglobin E disease" "obsolete_genetic vascular anomaly" "temporal measurement" "hypomagnesemia 7, renal, with or without dilated cardiomyopathy" @@ -16062,10 +16062,10 @@ "indifference to pain, congenital, autosomal dominant" "decidua basalis" "Periventricular heterotopia" - "obsolete_frontotemporal dementia with motor neuron disease" "sphingomyelin 18:1" - "Familial porphyria cutanea tarda" + "obsolete_frontotemporal dementia with motor neuron disease" "LC2/AD" + "Familial porphyria cutanea tarda" "inbred" "secreted frizzled-related protein 2 measurement" "Generalized junctional epidermolysis bullosa, non-Herlitz type" @@ -16096,8 +16096,8 @@ "Reticulocyte Corpuscular Hemoglobin Distribution Width" "spinocerebellar ataxia type 13" "obsolete_selective IgM deficiency" - "level of glutathione-specific gamma-glutamylcyclotransferase 2 in blood serum" "gastroparesis" + "level of glutathione-specific gamma-glutamylcyclotransferase 2 in blood serum" "clarithromycin" "level of endoplasmin in blood serum" "obsolete_right ventricle" @@ -16141,8 +16141,8 @@ "immune system organ benign neoplasm" "opercular lateral line neuromast" "level of serine/threonine-protein phosphatase 1 regulatory subunit 10 in blood serum" - "level of Ceramide (d42:2) in blood serum" "experimental stage" + "level of Ceramide (d42:2) in blood serum" "level of zinc finger CCHC domain-containing protein 18 (human) in blood serum" "CS57569" "level of macoilin in blood serum" @@ -16201,8 +16201,8 @@ "obsolete_alpha-crystallinopathy" "level of gastrokine-1 in blood serum" "obsolete_partial duplication of the long arm of chromosome 3" - "ubiquitin thioesterase otulin" "Lu130" + "ubiquitin thioesterase otulin" "obsolete_pachyonychia congenita" "obsolete Birt-Hogg-Dube syndrome" "NCI-H146" @@ -16226,8 +16226,8 @@ "interleukin-2 receptor subunit beta measurement" "metastasis free survival" "level of mitochondrial inner membrane protease subunit 2 in blood serum" - "tumor grade 2, general grading system" "autoimmune disease biomarker" + "tumor grade 2, general grading system" "complement C3B, inactivated measurement" "response to fluoroquinolones" "dissection" @@ -16252,8 +16252,8 @@ "level of Tryptophyl-Asparagine in blood" "anterior ischemic optic neuropathy" "protein-tyrosine sulfotransferase 1 measurement" - "obsolete esophageal malformation" "thymic basaloid carcinoma" + "obsolete esophageal malformation" "level of RELT-like protein 1 in blood serum" "level of protein shisa-like-2A in blood serum" "Parkinson disease, dominant"@en @@ -16274,8 +16274,8 @@ "level of peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 in blood serum" "level of frizzled-2 in blood serum" "pituitary gland disease" - "Genetic motor neuron disease" "nerve root" + "Genetic motor neuron disease" "hereditary spastic paraplegia 4" "level of glutamate receptor ionotropic, delta-1 in blood serum" "lethal Larsen-like syndrome" @@ -16301,8 +16301,8 @@ "HG03095" "DNase-hypersensitivity seq" "periosteal chondrosarcoma" - "Autosomal dominant Charcot-Marie-Tooth disease type 2A1" "level of microtubule nucleation factor SSNA1 in blood serum" + "Autosomal dominant Charcot-Marie-Tooth disease type 2A1" "craniotelencephalic dysplasia" "ubiquitin carboxyl-terminal hydrolase isozyme L1 measurement" "level of motor neuron and pancreas homeobox protein 1 in blood serum" @@ -16314,8 +16314,8 @@ "obsolete_constitutional neutropenia" "distal trisomy 19q" "Kidney Oncocytoma" - "Ly49H-negative natural killer cell, mouse" "tp63-related spectrum disorders"@en + "Ly49H-negative natural killer cell, mouse" "obsolete_Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome" "signal peptidase complex catalytic subunit SEC11C measurement" "Penetrating foot ulcers" @@ -16328,11 +16328,11 @@ "HGADFN167" "bone inflammation disease" "tiadinil measurement" - "obsolete_distal trisomy 1p36" "obsolete_pharyngeal pouch 6" - "obsolete_Oguchi disease" + "obsolete_distal trisomy 1p36" "chronic inflammatory demyelinating polyneuropathy" "SCMDA" + "obsolete_Oguchi disease" "octenoylcarnitine measurement" "cholesteryl ester 22:1 measurement" "level of endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase in blood serum" @@ -16394,8 +16394,8 @@ "C4-2B" "TSC22 domain family protein 3" "GTP cyclohydrolase 1" - "level of Rap guanine nucleotide exchange factor 1 in blood serum" "Encephalitis, Tick-Borne" + "level of Rap guanine nucleotide exchange factor 1 in blood serum" "Early-onset spastic ataxia-neuropathy syndrome" "Herpes Zoster" "histidine" @@ -16427,12 +16427,12 @@ "N-formyl-L-methionine" "obsolete_megalocornea-intellectual disability syndrome" "hFib2-iPS4" - "serine/threonine-protein kinase OSR1" "autosomal recessive spondylocostal dysostosis" - "alpha-(1,3)-fucosyltransferase 5 measurement" + "serine/threonine-protein kinase OSR1" "muscular dystrophy-dystroglycanopathy, type C" "obsolete_labral sensory complex primordium" "Theiler stage 22" + "alpha-(1,3)-fucosyltransferase 5 measurement" "X-09706 measurement" "Cardiac-urogenital syndrome"@en "obsolete_trunk musculature" @@ -16499,9 +16499,9 @@ "Human papillomavirus" "level of hepatoma-derived growth factor-like protein 1 in blood serum" "obsolete_alopecia" - "obsolete_developmental delay with autism spectrum disorder and gait instability" "Congenital atransferrinemia" "tRNA (guanine-N(7)-)-methyltransferase" + "obsolete_developmental delay with autism spectrum disorder and gait instability" "NAD-dependent protein deacylase sirtuin-5, mitochondrial measurement" "GRIL-seq" "fibrous dysplasia" @@ -16517,8 +16517,8 @@ "obsolete_isolated oxycephaly" "level of homeobox protein HMX2 in blood serum" "oropharyngeal carcinoma" - "E3 ubiquitin-protein ligase ZNRF3 measurement" "ganglion cell inner plexiform layer thickness measurement" + "E3 ubiquitin-protein ligase ZNRF3 measurement" "embryonic maxillary sensory complex" "leukodystrophy, hypomyelinating, 17" "renal artery atheroma" @@ -16620,14 +16620,14 @@ "free cholesterol in IDL measurement" "HCC1954" "obsolete_pituitary stalk interruption syndrome" - "obsolete_genetic nail anomaly" "obsolete_pure or complex autosomal recessive spastic paraplegia" + "obsolete_genetic nail anomaly" "obsolete_Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia" "level of coiled-coil domain-containing protein 69 in blood serum" + "3-hydroxybutyrate change measurement" "in situ sequencing" - "Anterior creases of earlobe" "small integral membrane protein 9" - "3-hydroxybutyrate change measurement" + "Anterior creases of earlobe" "Non-steroidal anti-inflammatory and antirheumatic product use measurement" "Streptococcus sanguinis" "knee" @@ -16659,8 +16659,8 @@ "Lilium hybrid division I" "level of Ras-related protein Rab-14 in blood serum" "obsolete_glycogen storage disease due to lactate dehydrogenase deficiency" - "N-acetyltyrosine measurement"@en "malignant cornea melanoma" + "N-acetyltyrosine measurement"@en "66cl4" "phosphatidylcholine diacyl C32:0 measurement" "cell culture supernatant"@en @@ -16668,8 +16668,8 @@ "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11" "heart leiomyosarcoma" "Hypotonia - failure to thrive - microcephaly" - "Morvan syndrome" "amyotrophic lateral sclerosis 26 with or without frontotemporal dementia" + "Morvan syndrome" "infantile epileptic encephalopathy" "combined immunodeficiency due to LRBA deficiency" "obsolete_lysinuric protein intolerance" @@ -16708,9 +16708,9 @@ "anophthalmia/microphthalmia-esophageal atresia syndrome" "cholecystolithiasis" "neuronal ceroid lipofuscinosis 5" - "glutathione S-transferase Mu 1 measurement" "Charcot-Marie-Tooth disease type 1E" "periventricular nodular heterotopia" + "glutathione S-transferase Mu 1 measurement" "X-23997 measurement" "lacrimal gland carcinoma ex pleomorphic adenoma" "tinea manuum" @@ -16797,11 +16797,11 @@ "bronchoalveolar adenocarcinoma" "A/G-specific adenine DNA glycosylase measurement" "transcriptional adapter 1-like protein" - "short stature and microcephaly with genital anomalies" "obsolete non-syndromic esophageal malformation" - "level of zinc finger protein 843 in blood serum" + "short stature and microcephaly with genital anomalies" "familial scaphocephaly syndrome, McGillivray type" "cardiomyopathy, dilated, 2G" + "level of zinc finger protein 843 in blood serum" "immature CD1a-positive Langerhans cell" "dodecanedioate measurement" "anterior lateral line nerve" @@ -16911,8 +16911,8 @@ "level of spliceosome RNA helicase BAT1 in blood serum" "Distal myotilinopathy" "Fanconi anemia complementation group A" - "early-onset sutural cataract" "obsolete_dorsal trunk specific anlage" + "early-onset sutural cataract" "disorder of methionine catabolism" "obsolete_ChIP-seq by high throughput sequencing" "level of eukaryotic translation initiation factor 4E-binding protein 1 in blood serum" @@ -16921,10 +16921,10 @@ "level of myelin-oligodendrocyte glycoprotein in blood serum" "childhood central nervous system germ cell tumor" "testicular non-seminomatous germ cell cancer" - "carboxyethyl-GABA measurement" "dorsolateral prefrontal cortex functional measurement" "formiminoglutamic aciduria" "level of neuferricin in blood serum" + "carboxyethyl-GABA measurement" "obsolete_glutaryl-CoA dehydrogenase deficiency" "percent glycated albumin" "Type I truncus arteriosus" @@ -16988,8 +16988,8 @@ "histone acetyltransferase KAT2A" "malignant myoepithelioma" "restriction digest" - "GM17129" "obsolete_disseminated superficial actinic porokeratosis" + "GM17129" "autosomal recessive limb-girdle muscular dystrophy type 2O" "danazol" "N-acetyl-L-leucine" @@ -17130,14 +17130,14 @@ "congenital mitral stenosis" "milligram per milliliter" "cell suspension culture" - "central nervous system nongerminomatous germ cell tumor" "collagen alpha-2(XI) chain measurement" + "central nervous system nongerminomatous germ cell tumor" "dihomo-linolenate 20:3n3 or n6 measurement" "temporal lobe cancer" + "Antiglaucoma preparations and miotics use measurement" "renal pelvis inverted papilloma" "Aplasia/Hypoplasia of the cerebellum" "valine--tRNA ligase" - "Antiglaucoma preparations and miotics use measurement" "microcephaly, short stature, and limb abnormalities" "lung disease severity measurement" "obsolete_Li-Fraumeni syndrome" @@ -17163,11 +17163,11 @@ "level of MOB kinase activator 1B in blood serum" "obsolete_bone dysplasia, lethal Holmgren type" "obsolete_peripheral resistance to thyroid hormones" - "pediatric lymphoma" "Short stature - deafness - neutrophil dysfunction - dysmorphism" + "pediatric lymphoma" "Genetic dermis elastic tissue disorder" - "RNA assay" "Primary immunodeficiency due to a defect in innate immunity" + "RNA assay" "protein Wnt-5a" "pancreatic adenosquamous carcinoma" "congenital disorder of glycosylation with defective fucosylation" @@ -17200,8 +17200,8 @@ "serine/threonine-protein kinase ULK3" "basic salivary proline-rich protein 4 measurement" "Teleopsis whitei" - "obsolete_PFAPA syndrome" "E3 ubiquitin-protein ligase RBBP6 measurement" + "obsolete_PFAPA syndrome" "trichodysplasia-xeroderma syndrome" "3-Indolepropionic acid to Methylmalonic acid ratio" "interleukin-3 measurement" @@ -17340,10 +17340,10 @@ "anus cancer" "biotin-responsive basal ganglia disease" "actin-related protein 2/3 complex subunit 5" - "obsolete_coralliform cataract" "Perturb-Seq" - "dodecenedioate (C12:1-DC) measurement" + "obsolete_coralliform cataract" "obsolete familial patent arterial duct" + "dodecenedioate (C12:1-DC) measurement" "Usher syndrome type 2" "AG08048" "phosphoserine aminotransferase" @@ -17408,9 +17408,9 @@ "Rare genetic systemic or rheumatologic disease" "level of acyl-CoA-binding domain-containing protein 4 in blood serum" "HCC2429"@en - "neoplasm of cerebral hemisphere" "otopalatodigital syndrome spectrum disorder" "Kyasanur forest disease virus" + "neoplasm of cerebral hemisphere" "brain inflammatory disease" "spondyloepiphyseal dysplasia, Cantu type" "2-arachidonoyl-GPC (20:4) measurement" @@ -17422,9 +17422,9 @@ "level of protein S100-A10 in blood serum" "bordetella seropositivity" "mushroom body" + "cysteine and glycine-rich protein 2 measurement" "qualitative or quantitative defects of alpha-actin" "micromole" - "cysteine and glycine-rich protein 2 measurement" "neurometabolic disorder due to serine deficiency" "rhizomelic chondrodysplasia punctata" "Marmota monax" @@ -17452,9 +17452,9 @@ "late cornified envelope protein 3B" "resistance training" "passage number" + "obsolete_neurofibromatosis type 3" "insulin-like growth factor-binding protein-like 1 measurement" "N2-methylguanosine measurement" - "obsolete_neurofibromatosis type 3" "NCI-H2461" "meconium aspiration syndrome" "ubiquitin-conjugating enzyme E2 C" @@ -17513,12 +17513,12 @@ "lateral line ganglion" "obsolete_congenital microcoria" "animal allergen seropositivity" + "X-11478 measurement" "obsolete_anterior lateral line system" "establishment of localization in cell" - "X-11478 measurement" "red blood cell density measurement" - "Charlevoix-Saguenay spastic ataxia" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" + "Charlevoix-Saguenay spastic ataxia" "POU domain class 2-associating factor 1" "Human respiratory syncytial virus A strain Long" "thymoma, familial" @@ -17530,15 +17530,15 @@ "SeqZip" "neurodevelopmental disorder with epilepsy and brain atrophy" "lung" + "mucositis" + "newborn respiratory distress syndrome" "myristoylglycine measurement" "level of cyclin-dependent kinase 2-interacting protein in blood serum" "obsolete syndromic esophageal malformation" - "level of neuroligin-4, Y-linked in blood serum" "hemiplegia" + "level of neuroligin-4, Y-linked in blood serum" "Joubert syndrome with renal defect" - "mucositis" "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form" - "newborn respiratory distress syndrome" "L-xylulose reductase" "primary root differentiation zone" "level of protein phosphatase 1 regulatory subunit 1A in blood serum" @@ -17557,8 +17557,8 @@ "cervical spina bifida aperta" "icosanoate" "aspartoacylase" - "methapyrilene" "3-Indolepropionic acid to 2-(dimethylamino) guanosine ratio" + "methapyrilene" "folding of antihelix" "central polydactyly of fingers" "obsolete_acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" @@ -17600,8 +17600,8 @@ "intractable diarrhea-choanal atresia-eye anomalies syndrome" "Bull's eye maculopathy" "carbon monoxide exhalation measurement" - "Burkholderia pseudomallei" "erythrocyte deformability" + "Burkholderia pseudomallei" "suppurative periapical periodontitis" "EC 3.1.1.4 (phospholipase A2) inhibitor" "group assignment"@en @@ -17704,14 +17704,14 @@ "dynein regulatory complex protein 10" "Recurrent aphthous stomatitis" "Cervical Clear Cell Adenocarcinoma" - "monostotic fibrous dysplasia" "tinea" + "monostotic fibrous dysplasia" + "level of translocon-associated protein subunit alpha in blood serum" "phosphatidylcholine 42:6" "obsolete Goldenhar syndrome" - "level of translocon-associated protein subunit alpha in blood serum" + "vascular hemostatic disease" "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase" "lethal congenital contracture syndrome 1" - "vascular hemostatic disease" "mothers against decapentaplegic homolog 2 measurement" "nose" "Neurofibromatosis type 1 due to NF1mutation or intragenic deletion" @@ -17851,8 +17851,8 @@ "sebaceous adenoma" "STAT3 gain of function"@en "obsolete_chronic myeloid leukemia" - "PE/CA-PJ15" "obsolete_Autosomal dominant spastic ataxia type 1" + "PE/CA-PJ15" "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome" "obsolete_response to trametinib" "craniosynostosis-anal anomalies-porokeratosis syndrome" @@ -17941,9 +17941,9 @@ "microcephaly-complex motor and sensory axonal neuropathy syndrome" "upper digestive tract" "lipoma of colon" + "Obesity due to congenital leptin resistance" "Brassica juncea" "high bone mass osteogenesis imperfecta" - "Obesity due to congenital leptin resistance" "Extrahepatic Bile Duct Squamous Cell Carcinoma" "CUB and sushi domain-containing protein 2" "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly" @@ -18069,8 +18069,8 @@ "thyroid hypoplasia" "tRNA-splicing endonuclease subunit Sen34" "AG11513" - "3-Indolepropionic acid to alpha-Linolenic acid (C18:3n3) ratio" "HOMA-IR" + "3-Indolepropionic acid to alpha-Linolenic acid (C18:3n3) ratio" "interleukin-3 receptor subunit alpha measurement" "heat shock protein beta-1 measurement"@en "gait measurement" @@ -18206,8 +18206,8 @@ "parietal foramina 2" "immature CD8_alpha-low Langerhans cell" "octadecanedioate measurement" - "obsolete_adrenogenital syndrome" "uncharacterized protein KIAA0040 measurement" + "obsolete_adrenogenital syndrome" "spermatogenic failure 26" "Streptococcus suis" "Waardenburg syndrome type 2E" @@ -18242,8 +18242,8 @@ "level of Ras-related protein Rab-1A in blood serum" "NACHT, LRR and PYD domains-containing protein 1" "obsolete_autosomal recessive cutis laxa type 2" - "N-acetyltaurine measurement"@en "transmembrane protein 132A" + "N-acetyltaurine measurement"@en "SHAPE-MaP" "subthalamic nucleus" "ulna fracture" @@ -18346,8 +18346,8 @@ "X-25433 measurement" "ethmoid sinusitis" "level of protein IMPACT in blood serum" - "split hand or/and split foot malformation" "obsolete_familial benign copper deficiency" + "split hand or/and split foot malformation" "complement C5B-C6 complex measurement" "Abnormal cerebral morphology" "level of arginyl-tRNA--protein transferase 1 in blood serum" @@ -18362,9 +18362,9 @@ "obsolete_primary segmental branch primordium" "ADAMTS13 measurement" "cardiovascular measurement" - "nasal cavity lymphoma" "obsolete disorder of retroperitoneum" "GM17214" + "nasal cavity lymphoma" "obsolete_prootic" "low grade glioma" "ILSXISS50/TejJ" @@ -18374,8 +18374,8 @@ "RC-K8" "Rib fusion" "Cucumber mosaic virus" - "DNA repair protein XRCC4 measurement" "B-cell neoplasm" + "DNA repair protein XRCC4 measurement" "level of lymphocyte function-associated antigen 3 in blood serum" "Mitral stenosis" "Colletotrichum graminicola" @@ -18409,8 +18409,8 @@ "kallikrein-14 measurement" "embryonic leading edge cell" "single cell identifier" - "obsolete_atypical hemolytic-uremic syndrome with DGKE deficiency" "motor developmental delay due to 14q32.2 paternally expressed gene defect" + "obsolete_atypical hemolytic-uremic syndrome with DGKE deficiency" "level of serpin B13 in blood serum" "normalization testing design" "Darwin's tubercule" @@ -18446,12 +18446,12 @@ "X-11849 measurement" "butyrophilin subfamily 1 member A1" "endocervix" - "Thymoma Type AB" "axon guidance" "vitelliform macular dystrophy 2" + "Thymoma Type AB" "CD56-negative, CD161-positive immature natural killer cell, human" - "ciliary dyskinesia, primary, 45" "high output heart failure" + "ciliary dyskinesia, primary, 45" "protein BEX5" "benign mastocytoma" "Intrahepatic cholestasis of pregnancy" @@ -18716,15 +18716,15 @@ "complement C1q subcomponent subunit C measurement" "inborn error of immunity" "level of protein phosphatase 1 regulatory subunit 29 in blood serum" - "X-17685 measurement" "cholelithiasis" + "X-17685 measurement" "visceral Leishmaniasis" "MLS 2645-94" "level of SAGA-associated factor 29 in blood serum" "hypertrophic cardiomyopathy 25" "cAMP-dependent protein kinase type II-beta regulatory subunit" - "non-alcoholic fatty liver disease severity measurement" "overall survival" + "non-alcoholic fatty liver disease severity measurement" "permanent neonatal diabetes mellitus" "level of phosphatidylinositol 3-kinase catalytic subunit type 3 in blood serum" "ras-related protein Rab-27B measurement" @@ -18756,8 +18756,8 @@ "obsolete_colonic atresia" "infarction" "level of dehydrogenase/reductase SDR family member 6 in blood serum" - "gSELEX-Seq" "Pelizaeus-Merzbacher disease in female carriers" + "gSELEX-Seq" "obsolete type 1 interferonopathy" "hydroxycarboxylic acid receptor 2" "histone-lysine N-methyltransferase SETD2 measurement" @@ -18770,8 +18770,8 @@ "brain development" "Chorioretinal lacunae" "level of TLD domain-containing protein 2 in blood serum" - "obsolete_qualitative or quantitative defects of merosin" "level of bifunctional polynucleotide phosphatase/kinase in blood serum" + "obsolete_qualitative or quantitative defects of merosin" "3-Indolepropionic acid to S-Sulfo-L-cysteine ratio" "interleukin-34 measurement" "triglyceride change measurement" @@ -18818,8 +18818,8 @@ "level of three prime repair exonuclease 2 in blood serum" "level of glutaminase kidney isoform, mitochondrial in blood serum" "Populus fremontii x Populus angustifolia" - "embryonal rhabdomyosarcoma" "secondary avascular necrosis" + "embryonal rhabdomyosarcoma" "benign neoplasm of testis" "mycophenolate" "level of activin/inhibin beta C chain in blood serum" @@ -18876,10 +18876,10 @@ "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement" "CS57854" "uncharacterized protein KIAA2013 measurement" - "hereditary elliptocytosis" "obsolete_seq library selection" - "regenerating fin" "geotrichosis" + "hereditary elliptocytosis" + "regenerating fin" "glycoprotein change measurement" "Right temporal lobar atrophy" "reactive arthritis" @@ -18898,17 +18898,17 @@ "dopamine 3-O-sulfate measurement" "intracellular organelle" "plant allergen seropositivity" + "Partial congenital cataract" "chondrosarcoma" "labial sensory complex primordium" "C-type lectin domain family 4 member D" + "obsolete_fatal post-viral neurodegenerative disorder" "RWPE1" "congenital disorder of glycosylation type II" - "obsolete_fatal post-viral neurodegenerative disorder" - "Partial congenital cataract" "Cerebral disease with cataract" "response to flupirtine" - "obsolete_capillary" "beta-thalassemia major" + "obsolete_capillary" "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome" "renal dialysis" "congenital bowing of long bones" @@ -19014,12 +19014,12 @@ "GM17736" "level of DNA damage-inducible transcript 4 protein in blood serum" "sweat gland neoplasm" + "obsolete_obesity due to melanocortin 4 receptor deficiency" "A204" "level of leukocyte immunoglobulin-like receptor subfamily B member 5 in blood serum" "response to angiotensin-converting enzyme inhibitor" "rectum malignant melanoma" "cholesterol esters in medium LDL measurement" - "obsolete_obesity due to melanocortin 4 receptor deficiency" "central nervous system hemangioma" "7,12-dimethyltetraphene" "obsolete_Brachyolmia type 1, Hobaek type" @@ -19056,11 +19056,11 @@ "phosphatidylcholine acyl-alkyl C42:3 measurement" "autosomal dominant myoglobinuria" "Geobacillus sp. E263" - "N-hexadecanoylpyrrolidine measurement" "childhood testicular mixed germ cell cancer" "glycoprotein endo-alpha-1,2-mannosidase" "papillary adenoma" "transcription initiation factor TFIID subunit 10" + "N-hexadecanoylpyrrolidine measurement" "lung capillary endothelial cell"@en "sparganosis" "level of protein WFDC13 in blood serum" @@ -19087,9 +19087,9 @@ "tripartite motif-containing protein 55" "obsolete_X-linked intellectual disability, Stocco dos Santos type" "milliliter per kilogram" - "anterior uveitis" "level of peroxisomal carnitine O-octanoyltransferase in blood serum" "life expectancy" + "anterior uveitis" "mucin-producing carcinoma" "GM17217" "spinocerebellar ataxia type 17" @@ -19264,15 +19264,15 @@ "Familial adenomatous polyposis" "chronic pancreatitis" "nonsyndromic congenital nail disorder 8" - "familial isolated arrhythmogenic ventricular dysplasia, biventricular form" "dodecadienoate (12:2) measurement" + "familial isolated arrhythmogenic ventricular dysplasia, biventricular form" "congenital primary megaureter" + "thrombin generation potential measurement" "hand-foot-genital syndrome" "obsolete_floor plate rhombomere 5" "retinitis pigmentosa 32" "forelimb zeugopod" "level of phosphatidylinositol 5-phosphate 4-kinase type-2 beta in blood serum" - "thrombin generation potential measurement" "angiomotin" "non-small cell lung carcinoma" "Hyperandrogenism due to cortisone reductase deficiency" @@ -19312,8 +19312,8 @@ "autosomal recessive congenital stationary night blindness"@en "ornithine decarboxylase antizyme" "N-alpha-acetylornithine measurement" - "SUDHL10" "focal dermal hypoplasia" + "SUDHL10" "scRRBS" "dimethyladenosine transferase 1, mitochondrial" "deafness-infertility syndrome" @@ -19325,8 +19325,8 @@ "penile neoplasm" "free cholesterol measurement" "lattice corneal dystrophy type I" - "cAMP-dependent protein kinase type II-alpha regulatory subunit" "ovarian primitive germ cell tumor" + "cAMP-dependent protein kinase type II-alpha regulatory subunit" "kwashiorkor" "parietal cortex measurement" "distal monosomy 1q" @@ -19710,16 +19710,16 @@ "bronchopulmonary dysplasia" "Epileptic encephalopathy with global cerebral demyelination" "phospholipid scramblase 3" - "A375" "caspofungin" + "A375" "level of SAM pointed domain-containing Ets transcription factor in blood serum" "monounsaturated fatty acids; 16:1, 18:1 measurement" "episodic ataxia type 1" "Susceptibility to viral and mycobacterial infections" "level of WAP four-disulfide core domain protein 5 in blood serum" "right ventricular stroke volume to left ventricular stroke volume ratio"@en - "Hearing abnormality" "Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency" + "Hearing abnormality" "Actinobacillus pleuropneumoniae serovar 5" "obsolete_seq instrument model" "carbon dioxide" @@ -19752,8 +19752,8 @@ "Coarse facial features" "X-linked hypophosphatemia" "level of aldo-keto reductase family 1 member B10 in blood serum" - "spastic paraplegia 70, autosomal recessive" "phosphatidylcholine acyl-alkyl C42:4 measurement" + "spastic paraplegia 70, autosomal recessive" "lipid" "childhood embryonal testis carcinoma" "diazoxide-resistant hyperinsulinism" @@ -19859,8 +19859,8 @@ "phosphorus atom" "salpingitis" "obsolete_hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency" - "obsolete_HMEC S1" "regulation of pH" + "obsolete_HMEC S1" "North Korea" "glycocholate" "fascioloidiasis" @@ -19872,8 +19872,8 @@ "Stargardt disease 4" "EGF-like repeat and discoidin I-like domain-containing protein 3" "genomic DNA" - "Rare genetic refraction anomaly" "tonsillar macrophage" + "Rare genetic refraction anomaly" "C57BL/10J"@en "pontocerebellar hypoplasia type 13" "eosinophil-derived neurotoxin measurement"@en @@ -19885,8 +19885,8 @@ "Channelopathy with epilepsy" "trimethylamine-N-oxide measurement"@en "sterol metabolism disorder" - "Pelger-Huet anomaly" "malignant central nervous system mesenchymal, non-meningothelial neoplasm" + "Pelger-Huet anomaly" "Ullrich congenital muscular dystrophy" "level of low-density lipoprotein receptor-related protein 10 in blood serum" "level of eukaryotic translation initiation factor 5A-2 in blood serum" @@ -19942,12 +19942,12 @@ "Compton-North congenital myopathy" "anaplastic lung carcinoma" "secreted and transmembrane protein 1 measurement" + "urinary nitrogen measurement" "2-hydroxyglutaric aciduria" "Aminoaciduria" "pontocerebellar hypoplasia, type 14" "spermatogenic failure 22" "trait in response to allopurinol" - "urinary nitrogen measurement" "Waardenburg-Shah syndrome" "obsolete_epidermolytic hyperkeratosis" "level of 5-hydroxytryptamine receptor 7 in blood serum" @@ -19971,8 +19971,8 @@ "Camptosynpolydactyly, complex" "cysteine-rich secretory protein LCCL domain-containing 2" "obsolete_Ehlers-Danlos syndrome due to tenascin-X deficiency" - "renal afferent arteriole" "CD4-negative, CD8-negative type I NK T cell secreting interleukin-4" + "renal afferent arteriole" "signal-regulatory protein beta-1" "alkaline ceramidase 3 deficiency" "level of SHC-transforming protein 4 in blood serum" @@ -20004,8 +20004,8 @@ "obsolete_tetramelic monodactyly" "calsyntenin-1" "level of zinc finger protein 276 in blood serum" - "leiomyosarcoma" "Dentatorubral pallidoluysian atrophy" + "leiomyosarcoma" "sporophyte senescent stage" "Togaviridae infectious disease" "X12063 measurement" @@ -20177,9 +20177,9 @@ "retinal ganglion" "oral opening" "epithelial recurrent erosion dystrophy" - "obsolete_pyruvate dehydrogenase deficiency" "external carotid artery" "STT3A-congenital disorder of glycosylation" + "obsolete_pyruvate dehydrogenase deficiency" "childhood-onset autosomal recessive myopathy with external ophthalmoplegia" "loxtidine" "age at medical procedure"@en @@ -20258,8 +20258,8 @@ "X-linked intellectual disability - psychosis - macroorchidism" "phobic disorder" "caveolin-2 measurement" - "C4II" "obsolete_acroosteolysis-keloid-like lesions-premature aging syndrome" + "C4II" "annexin A1 measurement" "obsolete_apical ectodermal ridge pelvic fin bud" "Rare genetic skin disease" @@ -20301,9 +20301,9 @@ "receptacle" "parkinsonian-pyramidal syndrome" "Canavan disease" + "obsolete_14q11.2 microdeletion syndrome" "hyperinsulinemic hypoglycemia" "protein modification process" - "obsolete_14q11.2 microdeletion syndrome" "obsolete_fundus albipunctatus" "tumor susceptibility gene 101 protein" "Cayman type cerebellar ataxia" @@ -20326,8 +20326,8 @@ "Pectobacterium carotovorum" "X-23665 measurement" "Chondroid Hamartoma" - "cysts and fistulae of the face and oral cavity" "Induced vaginal delivery" + "cysts and fistulae of the face and oral cavity" "Liang-Wang syndrome" "unilateral multicystic dysplastic kidney" "obesity" @@ -20435,8 +20435,8 @@ "2-hydroxystearate measurement" "obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature" "obsolete_diazoxide-resistant diffuse hyperinsulinism" - "UPF0454 protein C12orf49 measurement" "obsolete_Atlas Quality Control type" + "UPF0454 protein C12orf49 measurement" "white matter hyperintensity measurement" "X-linked spondyloepimetaphyseal dysplasia" "zinc finger protein 180 measurement" @@ -20528,8 +20528,8 @@ "CGR8" "cholate" "paroxysmal dystonia" - "LXF-289" "Micropapillary Serous Carcinoma" + "LXF-289" "endothelin-1" "presumptive pronephric mesoderm" "level of peroxisome proliferator-activated receptor gamma coactivator 1-alpha in blood serum" @@ -20556,16 +20556,16 @@ "obsolete_familial retinal arterial macroaneurysm" "developmental delay with or without dysmorphic facies and autism" "X-21285 measurement" - "Salmo salar" "CBA/J" + "Salmo salar" "developmental and epileptic encephalopathy, 44" "Fc-epsilon RIalpha-high basophil progenitor cell" "histatin-3" "pineal region meningioma" "level of prostaglandin reductase 2 in blood serum" "X-12850 measurement" - "intentional overdose"@en "chromosome 2q31.1 duplication syndrome" + "intentional overdose"@en "ichthyosis vulgaris" "hepatocellular clear cell carcinoma" "synaptotagmin-like protein 1 measurement" @@ -20626,13 +20626,13 @@ "obsolete_autosomal recessive cutis laxa type 2, classic type" "phosphatidylcholine 33:1 measurement" "obsolete_osteogenesis imperfecta type 4" - "obsolete_peroneal nerve" "hTERT-HPNE cell" + "obsolete_peroneal nerve" "LysoPC 20:2 measurement" "infectious myxomatosis" + "premenstrual tension" "pheochromocytoma" "disorder of glutamine metabolism" - "premenstrual tension" "macular telangiectasia type 2" "congenital anemia" "ILSXISS56/TejJ" @@ -20682,22 +20682,22 @@ "benign concentric annular macular dystrophy" "Thyroglossal Duct Cyst" "triokinase and FMN cyclase deficiency syndrome" - "obsolete_B4GALT1-CDG" "childhood apraxia of speech" "GM12144" "acute eustachian salpingitis" "telomere" "aldosterone measurement"@en + "obsolete_B4GALT1-CDG" "tert-butyl hydroperoxide" "ribonuclease K6" "myofibrillar myopathy 2" "obsolete congenital disorder of glycosylation-related bone disorder" "ATR-X-related syndrome" + "Von Willebrand disease type 2" "ameloblastin measurement" "anthranilate measurement" "leaf sheath" "Cowden syndrome 7" - "Von Willebrand disease type 2" "nephrolithiasis, calcium oxalate" "level of beta-hexosaminidase subunit alpha in blood serum" "level of AP-1 complex subunit sigma-2 in blood serum" @@ -20720,8 +20720,8 @@ "cannabis dependence" "obsolete_strain" "liver endoderm" - "combined deficiency of factor V and factor VIII" "salivary metabolite measurement" + "combined deficiency of factor V and factor VIII" "bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial" "level of cyclic AMP-dependent transcription factor ATF-6 beta in blood serum" "bifunctional polynucleotide phosphatase/kinase" @@ -20736,11 +20736,11 @@ "obsolete hereditary cardiac anomaly" "carnitine palmitoyltransferase II deficiency" "CD27-high, CD11b-high natural killer cell, mouse" + "obsolete_distal hereditary motor neuropathy type 7" "1HAEo"@en "CS57701" - "obsolete_distal hereditary motor neuropathy type 7" - "ankyrin repeat domain-containing protein 2" "dixin" + "ankyrin repeat domain-containing protein 2" "level of zinc finger protein SNAI2 in blood serum" "Hypodipsia" "Osteoporosis - oculocutaneous hypopigmentation syndrome" @@ -20791,8 +20791,8 @@ "upper digestive tract disorder" "synaptic vesicle glycoprotein 2A measurement" "obsolete_palpebral sebaceous gland tumor" - "genome" "level of interferon alpha-8 in blood serum" + "genome" "obsolete autosomal dominant hereditary axonal motor and sensory neuropathy" "Ehlers-Danlos syndrome, kyphoscoliotic type 1" "2-hydroxyglutarate measurement"@en @@ -20800,8 +20800,8 @@ "autosomal recessive disease" "obsolete_hyperphalangy, bilateral" "obsolete_qualitative or quantitative defects of desmin" - "trypsin-1 measurement" "level of testis-specific serine/threonine-protein kinase 1 in blood serum" + "trypsin-1 measurement" "familial sick sinus syndrome" "syndromic craniosynostosis" "Gout" @@ -20846,8 +20846,8 @@ "origin recognition complex subunit 6" "poikiloderma with neutropenia" "obsolete_cerebral hemisphere" - "amyloid beta A4 precursor protein-binding family B member 2 measurement" "IgG digalactosylation measurement" + "amyloid beta A4 precursor protein-binding family B member 2 measurement" "beta-hydroxyisovalerate measurement" "arachidonic acid measurement" "Turner syndrome due to structural X chromosome anomalies" @@ -20869,8 +20869,8 @@ "antioxidant" "mating type F" "Abnormal radial ray morphology" - "level of protocadherin alpha-4 in blood serum" "obsolete_femoral agenesis/hypoplasia, bilateral" + "level of protocadherin alpha-4 in blood serum" "protein MENT" "level of ribonuclease-like protein 13 in blood serum" "insulin secreting cell" @@ -20957,13 +20957,13 @@ "hexanoylglutamine measurement" "obsolete_Gitelman syndrome" "vitamin B12- and folate-independent constitutional megaloblastic anemia" + "obsolete_2q24 microdeletion syndrome" "leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 measurement" + "chronic hepatic porphyria" "prolyl hydroxylase EGLN3" "protein S100-A10" "brain oligodendroglioma" "HKB-11"@en - "chronic hepatic porphyria" - "obsolete_2q24 microdeletion syndrome" "jaw disease" "level of pre-mRNA-splicing regulator WTAP in blood serum" "level of sorting nexin-27 in blood serum" @@ -20996,9 +20996,9 @@ "surgical shock" "CS57867" "branchiostegal ray 3" - "ONT MinION" "level of GDNF family receptor alpha-like in blood serum" "embryonic central brain glial cell" + "ONT MinION" "glucosephosphate dehydrogenase deficiency" "obsolete_mucopolysaccharidosis type 1" "X-linked dyserythropoetic anemia with abnormal platelets and neutropenia" @@ -21054,8 +21054,8 @@ "level of BET1-like protein in blood serum" "juvenile dermatomyositis" "obsolete_multiple intestinal atresia" - "WM852 cell" "complex cortical dysplasia with other brain malformations 1" + "WM852 cell" "R-spondin-4 measurement" "peroneal artery" "papillary thymic adenocarcinoma" @@ -21166,8 +21166,8 @@ "muscular atrophy" "spastic ataxia" "obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature" - "Acheiropodia" "Craniosynostosis - intracranial calcifications" + "Acheiropodia" "zinc finger protein 23 measurement" "obsolete_embryonic Malpighian tubule tip cell" "obsolete constriction rings syndrome" @@ -21202,12 +21202,12 @@ "GM07022" "3-hydroxypropylmercapturic acid measurement" "zinc finger protein 276" - "median nodule of the upper lip" "obsolete_brittle cornea syndrome" - "diet" "susceptibility to partial acquired lipodystrophy"@en - "Rab-like protein 6" + "median nodule of the upper lip" "scATAC-seq (cell index)" + "diet" + "Rab-like protein 6" "level of DnaJ homolog subfamily C member 17 in blood serum" "pupal stage" "cholesterol in small LDL measurement " @@ -21257,8 +21257,8 @@ "Clostridium baratii" "endothelin-2" "laminopathy type Decaudain-Vigouroux" - "plexin-A1 measurement" "homeobox protein TGIF2LX" + "plexin-A1 measurement" "obsolete congenital absence/hypoplasia of fingers excluding thumb, bilateral" "shc-transforming protein 1 measurement" "PEO1" @@ -21310,9 +21310,9 @@ "obsolete_2p21 microdeletion syndrome without cystinuria" "C-X-C motif chemokine 5 measurement" "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 measurement" + "melanocortin-2 receptor accessory protein 2 measurement" "level of V-set and immunoglobulin domain-containing protein 10 in blood serum" "RMG-I" - "melanocortin-2 receptor accessory protein 2 measurement" "idiopathic cardiomyopathy" "obsolete_von Hippel-Lindau disease" "white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome" @@ -21336,8 +21336,8 @@ "killer cell immunoglobulin-like receptor 2DL2 measurement" "level of dystroglycan 1 in blood serum" "benign neoplasm of adrenal gland" - "Hereditary vascular retinopathy" "leukemia, acute lymphoblastic, susceptibility to, 3" + "Hereditary vascular retinopathy" "GM15850" "high mobility group protein 20A" "granular corneal dystrophy type II" @@ -21371,8 +21371,8 @@ "basophil" "level of beta-hexosaminidase subunit beta in blood serum" "level of AP-2 complex subunit alpha-2 in blood serum" - "1-palmitoyl-2-dihomo-linolenoyl-GPC (16:0/20:3n3 or 6) measurement" "Cervical Metaplasia" + "1-palmitoyl-2-dihomo-linolenoyl-GPC (16:0/20:3n3 or 6) measurement" "protein SPACA7 measurement" "obsolete_acropectorovertebral dysplasia" "toxascariasis" @@ -21387,9 +21387,9 @@ "far red light regimen" "RELT-like protein 2" "obsolete_synpolydactyly type 3" - "free cholesterol to total lipids in large LDL percentage " "circulating cell free DNA measurement" "hyperlipidemia due to hepatic triglyceride lipase deficiency" + "free cholesterol to total lipids in large LDL percentage " "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial" "phosphatidylcholine 36:2" "ubiquilin-2" @@ -21404,8 +21404,8 @@ "cystoid macular edema" "obsolete_Thyroid Gland Carcinoma" "Desmoplastic Ameloblastoma" - "CD27-low, CD11b-high natural killer cell, mouse" "T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant" + "CD27-low, CD11b-high natural killer cell, mouse" "Thiel-Behnke corneal dystrophy" "GM12145" "1-[2-(benzhydryloxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride" @@ -21450,8 +21450,8 @@ "mild phenylketonuria" "endometrioid stromal and related neoplasms" "Osteoporosis - macrocephaly - blindness - joint hyperlaxity" - "1-stearoyl-2-arachidonoyl-GPC (18:0/20:4) measurement" "2-hydroxypalmitate measurement"@en + "1-stearoyl-2-arachidonoyl-GPC (18:0/20:4) measurement" "vitamin B12-responsive methylmalonic acidemia" "obsolete_juvenile neuronal ceroid lipofuscinosis" "trypsin-3 measurement" @@ -21527,11 +21527,11 @@ "biofilm" "Early-onset parkinsonism - intellectual disability" "squamous carcinoma in situ" - "autosomal recessive nemaline myopathy"@en "carbonyl reductase [NADPH] 3 measurement" + "autosomal recessive nemaline myopathy"@en + "endoplasmic reticulum lectin 1 measurement" "DL-P-hydroxyphenyllactic acid measurement" "SUDHL6" - "endoplasmic reticulum lectin 1 measurement" "short-rib thoracic dysplasia 7/20 with polydactyly, digenic" "obsolete_presumptive brain" "acyl-CoA dehydrogenase 9 deficiency" @@ -21597,8 +21597,8 @@ "1-palmitoyl-2-linoleoyl-GPI (16:0/18:2) measurement" "SHEF-1" "Illumina Genome Analyzer" - "level of protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 in blood serum" "bilirubin metabolism disease" + "level of protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 in blood serum" "chromosome 5p13 duplication syndrome" "obsolete_SLC35A2-CDG" "non-obstructive coronary artery disease" @@ -21641,8 +21641,8 @@ "level of testis-specific serine/threonine-protein kinase 2 in blood serum" "obsolete_Feingold syndrome type 1" "CD44 antigen measurement" - "toxic diffuse goiter" "sulfotrasferase 1A1 measurement" + "toxic diffuse goiter" "apolipoprotein E isoform E2 measurement" "ependymal cell" "obsolete_anterior lateral line ganglion" @@ -21968,8 +21968,8 @@ "phosphatidylinositol 3-kinase catalytic subunit type 3" "autosomal recessive spinocerebellar ataxia 15" "syntaxin-1B measurement" - "right atrial fractional area change measurement"@en "DN1 thymic pro-T cell" + "right atrial fractional area change measurement"@en "derlin-1" "neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures" "postaxial polydactyly type A, unilateral" @@ -22135,8 +22135,8 @@ "part per million" "familial hyperaldosteronism type II" "suppressor of cytokine signaling 7" - "level of protein BTG2 in blood serum" "GRB2-related adapter protein" + "level of protein BTG2 in blood serum" "Osteoporosis - pseudoglioma" "1-palmitoyl-2-linoleoyl-GPE (16:0/18:2) measurement" "pregnancy-specific beta-1-glycoprotein 6" @@ -22181,11 +22181,11 @@ "classic phenylketonuria" "mediastinal soft tissue cancer" "orofacial cleft" - "obsolete_mitochondrial DNA depletion syndrome, myopathic form" - "obsolete_dystrophic epidermolysis bullosa, nails only" "4-hydroxyhippurate measurement"@en "congenital patella dislocation, unilateral" + "obsolete_dystrophic epidermolysis bullosa, nails only" "breast synovial sarcoma" + "obsolete_mitochondrial DNA depletion syndrome, myopathic form" "ulnar/fibula ray defect-brachydactyly syndrome" "level of deleted in malignant brain tumors 1 protein in blood serum" "organic heterocyclic compound" @@ -22202,10 +22202,10 @@ "obsolete_46,XX ovotesticular disorder of sex development" "level of profilin-2 in blood serum" "killer cell immunoglobulin-like receptor 2DL5A measurement" + "Total autosomal trisomy" "level of AMP deaminase 2 in blood serum" "van Maldergem syndrome 2" "obsolete_porokeratosis plantaris palmaris et disseminata" - "Total autosomal trisomy" "obsolete_agammaglobulinemia" "free cholesterol to total lipids in medium LDL percentage " "Color-vision disease" @@ -22233,8 +22233,8 @@ "obsolete_aprosencephaly cerebellar dysgenesis" "estrogen" "LP.13 thirteen leaves visible stage" - "obsolete_upper limb mesomelic dysplasia" "Death in infancy" + "obsolete_upper limb mesomelic dysplasia" "AG04147" "antileukoproteinase measurement" "N-acetylputrescine measurement" @@ -22304,19 +22304,19 @@ "obsolete_Hypohidrotic ectodermal dysplasia" "level of protein FEV in blood serum" "Autosomal dominant beta2-microglobulinic amyloidosis" - "herpes simplex encephalitis, susceptibility to, 3" "obsolete_autosomal recessive distal myopathy" + "herpes simplex encephalitis, susceptibility to, 3" + "Poroma" "Anaplastic (Malignant) Meningioma" "polydactyly-syndactyly-triphalangism" - "Poroma" "lissencephaly with cerebellar hypoplasia type C" "anti-meningococcal C serum bactericidal antibody measurement" "1,9-dideoxyforskolin" "chromosome 17q11.2 deletion syndrome, 1.4Mb" "proximal" "Archaea" - "synaptotagmin-3 measurement" "Incomplete partition of the cochlea type II" + "synaptotagmin-3 measurement" "MAM domain-containing protein 2" "gamma-Glu-Val" "WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 measurement" @@ -22333,8 +22333,8 @@ "obsolete_fine-Lubinsky syndrome" "pain agnosia" "X-03088 measurement" - "vegetative shoot apex" "interferon-inducible protein AIM2" + "vegetative shoot apex" "Duane-radial ray syndrome" "NS-seq" "galanin-like peptide" @@ -22487,11 +22487,11 @@ "Biliary atresia" "Rare pervasive developmental disorder" "obsolete_hereditary angioedema type 1" - "obsolete_otomandibular dysplasia" "GM00144" "Austrofundulus limnaeus" - "congenital muscular dystrophy with cerebellar involvement" + "obsolete_otomandibular dysplasia" "Abnormal occipital bone morphology" + "congenital muscular dystrophy with cerebellar involvement" "neurexin-3-beta measurement" "mammalian vulva" "Rare male infertility due to adrenal disorder of genetic origin" @@ -22655,8 +22655,8 @@ "Pallister-W syndrome" "visuospatial impairment" "fibrosarcoma" - "obsolete genetic transient congenital hypothyroidism" "obsolete_short stature-heart defect-craniofacial anomalies syndrome" + "obsolete genetic transient congenital hypothyroidism" "nanogram per liter" "level of myomesin-3 in blood serum" "U8 snoRNA-decapping enzyme" @@ -22681,10 +22681,10 @@ "Rorippa amphibia" "level of spindlin-1 in blood serum" "level of butyrophilin subfamily 2 member A2 in blood serum" - "syntaxin-6 measurement" - "HCS library protocol" "Cerebral hypoplasia" + "HCS library protocol" "Aedes albopictus" + "syntaxin-6 measurement" "urgency urinary incontinence" "insect dorsal imaginal precursor" "naive thymus-derived CD4-positive, alpha-beta T cell" @@ -22692,8 +22692,8 @@ "postaxial polydactyly type A, bilateral" "immunodeficiency 72 with autoinflammation" "linear atrophoderma of Moulin" - "anterior chamber depth measurement" "cancer-related condition" + "anterior chamber depth measurement" "interleukin-31" "level of twinfilin-2 in blood serum" "signal transducer and activator of transcription 3 measurement" @@ -22721,8 +22721,8 @@ "Epstein-Barr virus infection" "patterned dystrophy of the retinal pigment epithelium" "E3 ubiquitin-protein ligase ZFP91" - "obsolete_central areolar choroidal dystrophy" "X-21658 measurement" + "obsolete_central areolar choroidal dystrophy" "SHP77" "DnaJ homolog subfamily B member 14 measurement" "obsolete hereditary dentin defect" @@ -22743,10 +22743,10 @@ "high mobility group protein HMG-I/HMG-Y" "level of DnaJ homolog subfamily C member 11 in blood serum" "Corpuscular Hemoglobin Content" + "Nager syndrome" "Ulnar bowing" "S-1-pyrroline-5-carboxylate measurement" "obsolete_familial generalized lentiginosis" - "Nager syndrome" "segmentation 1-4 somites" "protein LTO1 homolog" "tetraamelia-multiple malformations syndrome" @@ -22770,9 +22770,9 @@ "hepatitis B virus infection" "future forebrain" "level of signal-regulatory protein gamma in blood serum" - "obsolete_N syndrome" "ciglitazone" "basophilic metamyelocyte" + "obsolete_N syndrome" "Autosomal recessive spastic paraplegia type 24" "1-palmitoyl-2-arachidonoyl-GPE (16:0/20:4) measurement" "high fat diet" @@ -22868,10 +22868,10 @@ "X-12990--docosapentaenoic acid n6-DPA measurement" "Cervus elaphus hispanicus" "syntaxin-10" - "cervical incompetence" "LP.09 nine leaves visible" - "level of coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial in blood serum" "qualitative" + "cervical incompetence" + "level of coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial in blood serum" "minocycline" "translin" "obsolete_primary bone dysplasia with increased bone density" @@ -22990,8 +22990,8 @@ "obsolete_Familial papillary renal cell carcinoma" "acromegaly" "beta-mannosidosis" - "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome" "familial angiolipomatosis" + "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome" "Prolonged QRS complex" "Charcot-Marie-Tooth disease type 4B3" "Dysmenorrhea" @@ -23083,8 +23083,8 @@ "U266" "Ascher syndrome" "nutraceutical" - "autosomal dominant Emery-Dreifuss muscular dystrophy" "2-anthramine measurement" + "autosomal dominant Emery-Dreifuss muscular dystrophy" "level of ribonuclease K6 in blood serum" "neuromedin-B" "ND00151" @@ -23144,9 +23144,9 @@ "obsolete_mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency" "Theiler stage 27" "sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2) measurement" + "NSCR" "nonsyndromic congenital nail disorder 1" "esophageal small cell neuroendocrine carcinoma" - "NSCR" "beta-1,4-galactosyltransferase 7" "liver transplant" "Harpagifer antarcticus" @@ -23203,9 +23203,9 @@ "response to radiation" "cell division control protein 42" "stromal cell-derived factor 2-like protein 1" - "carboxypeptidase A4 measurement" "facial asymmetry measurement" "sequestosome-1" + "carboxypeptidase A4 measurement" "renal pelvis papillary urothelial carcinoma" "fungal meningitis" "platelet glycoprotein ib alpha chain measurement" @@ -23233,9 +23233,9 @@ "N-acetylglucosamine measurement" "obsolete_familial hyperreninemic hypoaldosteronism type 2" "autoimmune disorder of musculoskeletal system" + "obsolete_progressive familial intrahepatic cholestasis type 3" "tyrosine-protein kinase YES measurement" "obsolete_partial trisomy/tetrasomy of chromosome 18" - "obsolete_progressive familial intrahepatic cholestasis type 3" "spinocerebellar ataxia type 25" "combined malonic and methylmalonic acidemia" "intestinal neuroendocrine tumor G1" @@ -23297,9 +23297,9 @@ "obsolete sickle cell disease associated with an other hemoglobin anomaly" "quinoxyfen measurement" "insulin (human)" - "Intellectual disability - spasticity - ectrodactyly" "anuria" "aniridia-absent patella syndrome" + "Intellectual disability - spasticity - ectrodactyly" "spasmodic dystonia" "L-Valine measurement" "caudal division of the internal carotid artery" @@ -23413,8 +23413,8 @@ "spinocerebellar ataxia type 2" "myocardium of ventricle" "obsolete_postaxial acrofacial dysostosis" - "endometrial endometrioid adenocarcinoma, variant with squamous differentiation" "129P3/J"@en + "endometrial endometrioid adenocarcinoma, variant with squamous differentiation" "RN33B" "pancreatic mucinous cystadenoma" "mature CD14-positive dermal dendritic cell" @@ -23686,8 +23686,8 @@ "peroxisome biogenesis disorder, complementation group 7"@en "obsolete_bone of lower extremity" "Familial cold urticaria" - "insulin-resistance syndrome type A" "primary biliary cirrhosis" + "insulin-resistance syndrome type A" "prolylproline measurement" "Smith-McCort dysplasia 1" "Metrorrhagia" @@ -23701,8 +23701,8 @@ "obsolete_trachea" "metaphyseal anadysplasia" "interferon alpha 2a" - "nemaline myopathy 5B, autosomal recessive, childhood-onset" "phagocytosis" + "nemaline myopathy 5B, autosomal recessive, childhood-onset" "sexually immature stage" "level of transcription initiation factor TFIID subunit 10 in blood serum" "chondrodysplasia" @@ -23741,8 +23741,8 @@ "essential tremor" "free cholesterol to total lipids in small HDL percentage " "Paraproteinemia" - "translation initiation factor eIF2B subunit alpha" "embryonic stage 6" + "translation initiation factor eIF2B subunit alpha" "2-chloro-3-oxoadipate measurement" "CD4-negative, CD8-negative, alpha-beta intraepithelial T cell" "secretory phospholipase A2 receptor" @@ -23783,8 +23783,8 @@ "carbohydrate derivative biosynthetic process" "oculodental syndrome, Rutherfurd type" "qualitative or quantitative defects of alphaB-cristallin" - "NKG2-A/NKG2-B type II integral membrane protein" "obsolete_punctate palmoplantar keratoderma type 1" + "NKG2-A/NKG2-B type II integral membrane protein" "obsolete_bulbus arteriosus" "21q22.11q22.12 microdeletion syndrome" "plastid" @@ -23837,9 +23837,9 @@ "obsolete_periventricular nodular heterotopia" "obsolete_maternally-inherited progressive external ophthalmoplegia" "obsolete_ichthyosis-cheek-eyebrow syndrome" - "tartronate (hydroxymalonate) measurement" "GM17850" "pleomorphic xanthoastrocytoma" + "tartronate (hydroxymalonate) measurement" "autosomal recessive degenerative and progressive cerebellar ataxia" "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies" "Herpes Labialis" @@ -23974,10 +23974,10 @@ "adipose macrophage" "X-11795 measurement" "SAYSvFN domain-containing protein 1 measurement" - "Sensory ataxic neuropathy - dysarthria - ophthalmoparesis" "obsolete_autosomal recessive optic atrophy, OPA7 type" "atrial fibrillation, familial, 12" "midbrain tectum" + "Sensory ataxic neuropathy - dysarthria - ophthalmoparesis" "MOLP-8" "UKE1" "obsolete_body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency" @@ -24012,8 +24012,8 @@ "level of Sterol ester (27:1/20:2) in blood serum" "meningeal neoplasm" "hypokalemic tubulopathy and deafness" - "carboxypeptidase Z measurement" "elementary body" + "carboxypeptidase Z measurement" "thigh muscle measurement"@en "phospholipids in very small VLDL measurement " "level of myeloid zinc finger 1 in blood serum" @@ -24080,8 +24080,8 @@ "sclerosing cholangitis" "GM12869" "X-23637 measurement" - "UV excision repair protein RAD23 homolog A" "musculo-skeletal system cell" + "UV excision repair protein RAD23 homolog A" "temperature" "PEAT" "GM17808" @@ -24105,8 +24105,8 @@ "scutianine F measurement" "Rhodococcus jostii RHA1" "amitrole" - "level of membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 in blood serum" "obsolete_mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" + "level of membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 in blood serum" "translation machinery-associated protein 16" "level of RING finger protein 24 in blood serum" "aldehyde dehydrogenase, dimeric NADP-preferring" @@ -24114,9 +24114,9 @@ "X-11452 measurement" "obsolete_infantile-onset autosomal recessive nonprogressive cerebellar ataxia" "gamma-crystallin C" - "alpha-2,8-sialyltransferase 8F measurement" "level of adenylate kinase 4, mitochondrial in blood serum" "mucosal type mast cell" + "alpha-2,8-sialyltransferase 8F measurement" "X-04499--3,4-dihydroxybutyrate-to-C-glycosyltryptophan ratio" "hemangiopericytoma, malignant" "obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature" @@ -24151,9 +24151,9 @@ "obsolete insect visual anlage in statu nascendi" "obsolete_duodenum" "sub-cortical nodular heterotopia" + "obsolete_malposition of external canthus" "lipid change measurement" "obsolete_metaphyseal dysplasia, Braun-Tinschert type" - "obsolete_malposition of external canthus" "switch-associated protein 70" "juxtacortical osteosarcoma" "Rhodococcus aetherivorans" @@ -24241,8 +24241,8 @@ "Myotonia" "mitochondrial import inner membrane translocase subunit Tim10" "phosphoglycerate kinase 1 measurement" - "carotid atherosclerosis" "Clinodactyly of the 4th toe" + "carotid atherosclerosis" "X-linked cerebellar ataxia" "Lactococcus lactis subsp. hordniae" "antibacterial drug" @@ -24279,8 +24279,8 @@ "tubulin polyglutamylase complex subunit 2" "Tracheomalacia" "level of alpha-2,8-sialyltransferase 8F in blood serum" - "nuclear envelope phosphatase-regulatory subunit 1 measurement" "lung colloid adenocarcinoma" + "nuclear envelope phosphatase-regulatory subunit 1 measurement" "level of tight junction protein ZO-1 in blood serum" "level of NAD-dependent deacetylase sirtuin-5 in blood serum" "Persistent open anterior fontanelle" @@ -24302,8 +24302,8 @@ "CA1 field of hippocampus" "obsolete syndromic renal or urinary tract malformation" "Keloid" - "level of eukaryotic-type peptidyl-prolyl cis-trans isomerase C in blood serum" "phospholipase A and acyltransferase 4" + "level of eukaryotic-type peptidyl-prolyl cis-trans isomerase C in blood serum" "Sandhoff disease" "obsolete_Alagille syndrome" "level of microtubule-associated protein RP/EB family member 2 in blood serum" @@ -24515,8 +24515,8 @@ "Marden-Walker syndrome" "acquired ichthyosis" "secondary biliary cirrhosis" - "intellectual disability-strabismus syndrome" "megakaryocyte-associated tyrosine-protein kinase measurement" + "intellectual disability-strabismus syndrome" "skeletal muscle tissue" "nucleosome sequencing" "BTB/POZ domain-containing protein KCTD1" @@ -24556,8 +24556,8 @@ "ephrin type-B receptor 3" "level of guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 in blood serum" "broad ligament malignant neoplasm" - "pancreatic signet ring cell adenocarcinoma" "obsolete_primitive olfactory epithelium" + "pancreatic signet ring cell adenocarcinoma" "obsolete_embryonic esophagus" "congenital muscular dystrophy caused by variation in POMGNT2" "Hypocrea jecorina" @@ -24580,9 +24580,9 @@ "(2-hydroxyphenyl)acetate" "SERKAL syndrome" "rhombomere 1" + "gait apraxia" "carboxypeptidase M measurement" "level of choriogonadotropin subunit beta in blood serum" - "gait apraxia" "obsolete_distal 7q11.23 microdeletion syndrome" "level of hydroxysteroid dehydrogenase-like protein 2 in blood serum" "X-linked intellectual disability - cubitus valgus - dysmorphism" @@ -24590,8 +24590,8 @@ "protein S100-A16" "non-melanoma skin carcinoma" "Primary dystonia, DYT6 type" - "Cabbage leaf curl virus" "obsolete_distal trisomy 13q" + "Cabbage leaf curl virus" "cerebrofacial arteriovenous metameric syndrome" "pleural effusion" "AT3ABR cell" @@ -24619,8 +24619,8 @@ "NF-kappa-B inhibitor-interacting Ras-like protein 1" "pancreatic neuroendocrine tumor G1" "upstream stimulatory factor 2" - "distal 22q11.2 microduplication syndrome" "1-(1-enyl-palmitoyl)-2-palmitoyl-GPC (P-16:0/16:0) measurement" + "distal 22q11.2 microduplication syndrome" "proplastid" "complement factor H-related protein 2 measurement" "sulfotransferase 6B1" @@ -24667,12 +24667,12 @@ "retroperitoneal lymphoma" "krueppel-like factor 4" "obsolete palpebral piliary tumor" - "Congenital muscular dystrophy type 1B" "hepatorenal syndrome" + "Congenital muscular dystrophy type 1B" "eye allergy" "Mild malformation of cortical development" - "Catel-Manzke syndrome" "cranial neural crest" + "Catel-Manzke syndrome" "nasal cavity adenocarcinoma" "pilocytic astrocytoma" "autosomal recessive syndromic cerebellar ataxia" @@ -24705,11 +24705,11 @@ "obsolete hereditary head and neck malformation" "malunion fracture" "Hirschsprung disease - type D brachydactyly" + "obsolete_Charcot-Marie-Tooth disease type 1F" "Vaginal Carcinosarcoma" "gastrointestinal lymphoma" "level of laminin subunit alpha-3 in blood serum" "scavenger receptor class B member 1" - "obsolete_Charcot-Marie-Tooth disease type 1F" "adapter SH3BGRL" "platelet-activating factor acetylhydrolase IB subunit alpha1" "length unit" @@ -24868,8 +24868,8 @@ "level of BTB/POZ domain-containing protein KCTD2 in blood serum" "future internal carotid artery" "LysoPA 16:0 measurement" - "bipolar I disorder" "Amniotic bands" + "bipolar I disorder" "Talipes cavus equinovarus" "permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome" "nasopharyngeal carcinoma, susceptibility to, 1" @@ -24878,11 +24878,11 @@ "serine protease HTRA1" "autoimmune thrombocytopenia" "Vitis sp. cv. 'Norton'" - "Non-progressive cerebellar ataxia with intellectual disability" "obsolete response to paclitaxel" + "Non-progressive cerebellar ataxia with intellectual disability" "obsolete_myostatin-related muscle hypertrophy" - "Pleural Epithelioid Mesothelioma" "cyclic nucleotide-gated olfactory channel" + "Pleural Epithelioid Mesothelioma" "2P-Seq" "level of epidermal growth factor receptor in blood serum" "hypertrophic cardiomyopathy 7" @@ -24899,8 +24899,8 @@ "glycine" "nucleobase-containing small molecule metabolic process" "peptidyl-prolyl cis-trans isomerase-like 1" - "parasitic eye infection" "level of thioredoxin-related transmembrane protein 1 in blood serum" + "parasitic eye infection" "renal tubular dysgenesis of genetic origin" "acetoacetyl-CoA synthetase" "Neisseria flavescens" @@ -24959,9 +24959,9 @@ "gamma-glutamylphenylalanine" "plasminogen activator inhibitor 1 measurement" "level of C-type lectin domain family 4 member C in blood serum" + "obsolete_Waardenburg-Shah syndrome" "Trichoplax adhaerens" "Carpal osteolysis" - "obsolete_Waardenburg-Shah syndrome" "acrocardiofacial syndrome" "Arthropoda" "midbrain basal plate" @@ -24978,8 +24978,8 @@ "Disorder of methionine cycle and sulfur amino acid metabolism" "butyrylcarnitine (C4) measurement" "COV504" - "obsolete_larynx anomaly" "obsolete_autosomal recessive isolated diffuse palmoplantar keratoderma" + "obsolete_larynx anomaly" "hydrocephalus-obesity-hypogonadism syndrome" "central serous retinopathy" "Obesity due to MC3R deficiency" @@ -25037,8 +25037,8 @@ "1q21.1 microdeletion syndrome" "rieske domain-containing protein" "level of collagen alpha-1(XV) chain in blood serum" - "lysosomal acid lipase deficiency" "ectonucleoside triphosphate diphosphohydrolase 2" + "lysosomal acid lipase deficiency" "chromosome-defective micronuclei" "inborn errors of metabolism" "X-12261 measurement" @@ -25111,9 +25111,9 @@ "epidermolysis bullosa simplex due to plakophilin deficiency" "Schizoaffective disorder-bipolar type" "docosapentaenoic acid" - "triacylglycerol 56:6 measurement"@en "ubiquitin carboxyl-terminal hydrolase 11" "eye lymphoma" + "triacylglycerol 56:6 measurement"@en "level of Phosphatidylinositol (16:0_18:1) in blood serum" "guanine nucleotide-binding protein G(i) subunit alpha-3" "obsolete_2q31.1 microdeletion syndrome" @@ -25123,8 +25123,8 @@ "level of beta-1,4-galactosyltransferase 7 in blood serum" "Rare genetic movement disorder" "lower limb deficiency-hypospadias syndrome" - "apolipoprotein E (isoform E4) measurement" "ataxin-3" + "apolipoprotein E (isoform E4) measurement" "Maternal teratogenic exposure" "acquired schizencephaly" "Fuji cells" @@ -25295,11 +25295,11 @@ "spondyloepimetaphyseal dysplasia-hypotrichosis syndrome" "cell" "Subcutaneous hemorrhage" - "obsolete_Marshall-Smith syndrome" - "hidradenitis suppurativa" "CHO-IR" "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" "squamous cell carcinoma of liver and intrahepatic biliary tract" + "obsolete_Marshall-Smith syndrome" + "hidradenitis suppurativa" "B6.Cg-Tg(SOD1-G93A)1Gur/J" "congenital thrombotic thrombocytopenic purpura" "linolenoylcarnitine (C18:3) measurement" @@ -25347,14 +25347,14 @@ "secretagogin measurement" "damage intensity" "obsolete_Han Chinese" - "mPAC L20" "non-syndromic brachydactyly of fingers" + "mPAC L20" "plasma plasminogen measurement" "obsolete_response to gefitinib" "fruit" "neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures" - "distal trisomy 6q" "N-acetylglucosamine-1-phosphotransferase subunit gamma" + "distal trisomy 6q" "alanine" "obsolete_Pfeiffer syndrome type 2" "GM1 gangliosidosis type 1" @@ -25378,11 +25378,11 @@ "Wyburn-Mason syndrome" "Human T-lymphotropic virus 2 infectious disease" "elicited macrophage" - "cartilage intermediate layer protein 1 measurement" "level of 26,26,26,27,27,27-hexafluoro-25-hydroxy-16,17,23,23,24,24-hexadehydrovitamin D3 in blood serum" "response to voriconazole"@en "White-Kernohan syndrome" "NC37" + "cartilage intermediate layer protein 1 measurement" "C36:4 phosphatidylethanolamine measurement" "Clostridium difficile 630" "Palmitic acid measurement" @@ -25429,8 +25429,8 @@ "CD103-positive, langerin-positive lymph node dendritic cell" "pharyngeal arch artery 2" "necrotizing ulcerative gingivitis" - "pyruvate decarboxylase deficiency" "COMM domain-containing protein 7 measurement" + "pyruvate decarboxylase deficiency" "laser capture microdissection" "long QT syndrome 10" "level of phosphatidylinositol 3-kinase regulatory subunit alpha in blood serum" @@ -25481,16 +25481,16 @@ "Staphylococcus aureus subsp. aureus Mu50" "obsolete_Irish" "SH2 domain-containing adapter protein D" - "potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1" "obsolete_camptodactyly syndrome, Guadalajara type 2" + "potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1" "Salivary Gland Basal Cell Adenocarcinoma" "CD3-positive T-lymphocyte count" "Arthrogryposis - renal dysfunction - cholestasis" - "Xanthomonas oryzae pv. oryzicola BLS256" "obsolete_distal arthrogryposis type 10" + "Xanthomonas oryzae pv. oryzicola BLS256" + "alpha-internexin measurement" "Youcai mosaic virus" "progonadoliberin-2" - "alpha-internexin measurement" "obsolete_defect in conserved oligomeric Golgi complex" "Bardet-Biedl syndrome" "TRAF3 haploinsufficiency" @@ -25582,8 +25582,8 @@ "trem-like transcript 4 protein measurement" "developmental and epileptic encephalopathy, 59" "regulator of G-protein signaling 19" - "obsolete rare hereditary systemic disease with peripheral neuropathy" "phenytoin" + "obsolete rare hereditary systemic disease with peripheral neuropathy" "LysoPC 14:0 measurement" "LN-428" "obsolete_brachydactyly" @@ -25630,18 +25630,18 @@ "response to antibiotic" "obsolete_Bloch-Sulzberger syndrome" "level of FRAS1-related extracellular matrix protein 1 in blood serum" - "cerebral meningioma" + "BICR 22" "exposure" + "cerebral meningioma" "ophthalmoplegia" - "BICR 22" "mitral valve annular diameter"@en "phospholipids in small HDL measurement " "DDB1- and CUL4-associated factor 12" "E3 ubiquitin-protein ligase NRDP1" "mediastinum liposarcoma" "obsolete_presumptive forebrain" - "brain growth measurement" "obsolete_genetic hypoparathyroidism" + "brain growth measurement" "Dengue virus 2" "obsolete_focal facial dermal dysplasia" "X-23749 measurement" @@ -25680,8 +25680,8 @@ "urea cycle disorder" "level of CD320 molecule in blood serum" "GTPase IMAP family member 6" - "response to metformin" "level of Fas apoptotic inhibitory molecule 3 in blood serum" + "response to metformin" "PrP systemic amyloidosis" "level of E3 ubiquitin-protein ligase RNF31 in blood serum" "phosphatidylcholine 36:4 measurement"@en @@ -25717,8 +25717,8 @@ "adenohypophyseal placode" "recurrent Neisseria infections due to factor D deficiency" "obsolete autosomal recessive limb-girdle muscular dystrophy type 2R" - "hypertelorism and tetralogy of fallot" "non-small cell squamous lung carcinoma" + "hypertelorism and tetralogy of fallot" "glycolipid transfer protein domain-containing protein 2 measurement" "46,XY sex reversal 3" "Charcot-Marie-Tooth disease axonal type 2Q" @@ -25772,16 +25772,16 @@ "peroxisomal disease" "arsenic trichloride" "lung germ cell tumor" - "X-12329 measurement" "obsolete cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" "neonatal severe primary hyperparathyroidism" + "X-12329 measurement" "neuronopathy, distal hereditary motor, autosomal recessive 8" "cone-rod dystrophy" "Aplasia/Hypoplasia of the thumb" "centrin-2 measurement" - "myoclonic epilepsy" "non polyA RNA" "level of heat shock protein beta-6 in blood serum" + "myoclonic epilepsy" "cystic renal cell carcinoma" "coralliform cataract" "carbonic anhydrase 2" @@ -25807,8 +25807,8 @@ "noise-induced hearing loss" "cortisol secretion" "behavioral response to water deprivation" - "level of ectonucleotide pyrophosphatase/phosphodiesterase family member 5 in blood serum" "insect embryonic optic lobe primordium" + "level of ectonucleotide pyrophosphatase/phosphodiesterase family member 5 in blood serum" "GM17170" "leiomyoma cutis" "chronic intestinal vascular insufficiency" @@ -25842,8 +25842,8 @@ "cavernous sinus" "Inability to walk by childhood/adolescence" "X-23593 measurement" - "GM17199" "arrhinia-choanal atresia-microphthalmia syndrome" + "GM17199" "obsolete_Pelizaeus-Merzbacher disease, connatal form" "obsolete_congenital muscular dystrophy due to LMNA mutation" "GM17294" @@ -25890,9 +25890,9 @@ "Broad foot" "obsolete_X-linked recessive ocular albinism" "carbuncle" + "obsolete_Simpson-Golabi-Behmel syndrome" "level of MARCKS-related protein in blood serum" "nephrolithiasis/osteoporosis, hypophosphatemic" - "obsolete_Simpson-Golabi-Behmel syndrome" "peroxisome biogenesis disorder 3A (Zellweger)" "infant botulism" "DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion" @@ -25990,8 +25990,8 @@ "twinfilin-1 measurement" "interleukin-1 receptor-associated kinase 4" "autoinflammatory disease, X-linked" - "pathological gambling" "Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp" + "pathological gambling" "parasitic infection" "bacteria seropositivity" "ER membrane protein complex subunit 5" @@ -26014,8 +26014,8 @@ "obsolete_ichthyosis hystrix gravior" "obsolete_atrial septal defect, coronary sinus type" "response to acetylsalicylate" - "bis(2-chloroethyl) sulfide" "anaphase-promoting complex subunit 10 measurement" + "bis(2-chloroethyl) sulfide" "Male infertility due to gonadal dysgenesis or sperm disorder" "Wassilewskija ecotype" "immunoFISH" @@ -26024,9 +26024,9 @@ "K1" "braces" "Genetic visceral malformation of the liver, biliary tract, pancreas or spleen" + "tumor necrosis factor receptor superfamily member 10A measurement" "cholesteryl ester storage disease" "3-oxoacyl-[acyl-carrier-protein] reductase" - "tumor necrosis factor receptor superfamily member 10A measurement" "spina bifida aperta" "non-syndromic brachydactyly of toes" "immunoglobulin J chain" @@ -26079,8 +26079,8 @@ "GM1 gangliosidosis type 2" "trichilemmal cyst" "fundus albipunctatus" - "level of sulfotransferase 1B1 in blood serum" "transcriptional repressor CTCF" + "level of sulfotransferase 1B1 in blood serum" "Charcot-Marie-Tooth disease type 4C" "RL" "mitogen-activated protein kinase kinase kinase 11" @@ -26092,9 +26092,9 @@ "level of complement C1q-like protein 3 in blood serum" "N-(2-furoyl)glycine measurement" "MCF-7/MN1"@en + "complement C2 measurement" "obsolete_porphyria" "dietary potassium intake measurement" - "complement C2 measurement" "Postaxial foot polydactyly" "suppressor macrophage" "density gradient centrifugation" @@ -26114,10 +26114,10 @@ "dihydrolipoyl dehydrogenase, mitochondrial measurement" "Cushing syndrome due to macronodular adrenal hyperplasia" "inflammatory myofibroblastic tumor" + "obsolete_adult-onset foveomacular vitelliform dystrophy" "bone resorption" "level of lysophosphatidylcholine acyltransferase 2 in blood serum" "level of eukaryotic translation initiation factor 4B in blood serum" - "obsolete_adult-onset foveomacular vitelliform dystrophy" "renal water retention" "vulvar basaloid squamous cell carcinoma" "antipsychotic agent" @@ -26165,8 +26165,8 @@ "lacrimoauriculodentodigital syndrome 3" "behenoylcarnitine (C22) measurement" "obsolete_response to vancomycin" - "circadian rhythm sleep disorder" "familial ovarian carcinoma" + "circadian rhythm sleep disorder" "level of NF-kappa-B essential modulator in blood serum" "beta-adducin" "progressive bifocal chorioretinal atrophy" @@ -26227,8 +26227,8 @@ "CNS demyelinating autoimmune disease" "isolated amyelia" "level of N-acetylated-alpha-linked acidic dipeptidase 2 in blood serum" - "Cryptorchidism - arachnodactyly - intellectual disability" "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome" + "Cryptorchidism - arachnodactyly - intellectual disability" "plant callus" "diabetic encephalopathy" "dihydropyrimidinase-related protein 5 measurement" @@ -26240,8 +26240,8 @@ "Nthy-ori 3-1" "Missing ribs" "obsolete_IVIC syndrome" - "Epidermolysis bullosa simplex, Dowling-Meara type" "surfactant" + "Epidermolysis bullosa simplex, Dowling-Meara type" "obsolete_spastic ataxia" "MEL cell line" "obsolete_triglyceride measurement" @@ -26259,8 +26259,8 @@ "spastic paraplegia-facial-cutaneous lesions syndrome" "alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6" "disintegrin and metalloproteinase domain-containing protein 11 measurement" - "galactosylceramide sulfotransferase" "obsolete_Mowat-Wilson syndrome" + "galactosylceramide sulfotransferase" "lactase/phlorizin hydrolase" "level of disks large-associated protein 4 in blood serum" "photoallergic dermatitis" @@ -26317,8 +26317,8 @@ "asymptomatic neurocognitive impairment" "obsolete_Joubert syndrome and related disorders" "vacuolar protein-sorting-associated protein 25" - "aurora kinase A measurement" "Radiation Pneumonitis" + "aurora kinase A measurement" "Plasmodium falciparum antigen IgG measurement" "obsolete_pyruvate dehydrogenase E3 deficiency" "4-androsten-3beta,17beta-diol disulfate 2 measurement" @@ -26350,19 +26350,19 @@ "Rift Valley fever virus" "GM17813" "hereditary hemorrhagic telangiectasia" + "obsolete_partial deletion of the short arm of chromosome 16" "arfaptin-2 measurement" "periapical tissue disease" "vascular brain injury measurement" - "obsolete_partial deletion of the short arm of chromosome 16" "obsolete_growth delay due to insulin-like growth factor type 1 deficiency" "Disorder of gamma-aminobutyric acid metabolism" "glycolithocholate measurement" - "HG03064" "congenital diarrhea 5 with tufting enteropathy" + "HG03064" "N-nitrosodiethylamine" - "U6 snRNA phosphodiesterase measurement" "age at breast cancer diagnosis" "succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial" + "U6 snRNA phosphodiesterase measurement" "picolinoylglycine measurement" "level of multimerin-2 in blood serum" "level of vacuolar protein-sorting-associated protein 25 in blood serum" @@ -26405,11 +26405,11 @@ "benign connective and soft tissue neoplasm" "eye color" "level of transmembrane emp24 domain-containing protein 9 in blood serum" - "obsolete_Charcot-Marie-Tooth disease" - "Lymphangiosarcoma" "simian immunodeficiency virus infection" "blood copper measurement" "Brainstem dysplasia" + "Lymphangiosarcoma" + "obsolete_Charcot-Marie-Tooth disease" "E3 ubiquitin-protein ligase HECW1 measurement" "level of target of Myb1 membrane trafficking protein in blood serum" "glucose-6-phosphatase activity" @@ -26460,24 +26460,24 @@ "platelet-type bleeding disorder 10" "AB SOLiD 5500xl" "cystatin-8" - "peptidyl-prolyl cis-trans isomerase-like 3" "isovalerylcarnitine (C5) measurement" + "peptidyl-prolyl cis-trans isomerase-like 3" "level of pituitary adenylate cyclase-activating polypeptide type I receptor in blood serum" "level of UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit in blood serum" "Neisseria lactamica" + "obsolete_Huntington disease-like 2" "ribonucleoside biosynthetic process" "systemic primary carnitine deficiency disease" "conventional fibrosarcoma" "carboxypeptidase N subunit 2" "drug-induced mental disorder" "SUM44PE" - "obsolete_Huntington disease-like 2" "aortic valve insufficiency" "acetyllysine measurement" "disorder of plasmalogens biosynthesis" "level of receptor-type tyrosine-protein phosphatase S in blood serum" - "obsolete_isolated congenital hypoglossia/aglossia" "level of beta-1-syntrophin in blood serum" + "obsolete_isolated congenital hypoglossia/aglossia" "combined immunodeficiency due to partial RAG1 deficiency" "obsolete_bullous skin disease" "S3" @@ -26673,9 +26673,9 @@ "obsolete_Gordon syndrome" "uncharacterized protein C2orf66 measurement" "congenital stationary night blindness 2A" - "Spinocerebellar ataxia type 1 with axonal neuropathy" "mutagen" "angiogenic factor with G patch and FHA domains 1 measurement" + "Spinocerebellar ataxia type 1 with axonal neuropathy" "breast milk collection" "G130" "disorder of galactose and fructose metabolism" @@ -26697,9 +26697,9 @@ "4-hydroxycoumarin" "diamine acetyltransferase 2 measurement" "2,3-dihydroxy-3-methylbutanoate" - "obsolete_pili torti" "level of putative chondrosarcoma-associated gene 1 protein in blood serum" "X-11859 measurement" + "obsolete_pili torti" "epithelium of small intestine" "catenin beta-1" "neonatal/infantile epilepsy syndrome" @@ -26803,8 +26803,8 @@ "portal hypertension" "cardiac stress biomarker measurement" "alcohol exposure measurement" - "granular eminence" "Short toe" + "granular eminence" "microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome" "detergent" "level of glutathione-specific gamma-glutamylcyclotransferase 1 in blood serum" @@ -26849,8 +26849,8 @@ "spastic ataxia-corneal dystrophy syndrome" "acquired thrombocytopenia" "level of growth arrest-specific protein 2 in blood serum" - "developmental and epileptic encephalopathy 99" "Radius absent - anogenital anomalies" + "developmental and epileptic encephalopathy 99" "obsolete_head capsule" "Endometrial Clear Cell Adenocarcinoma" "AFib amyloidosis" @@ -26868,8 +26868,8 @@ "Mus" "Alpha-methylacyl-CoA racemase deficiency" "HCC1534" - "cytochrome c oxidase subunit 4 isoform 2, mitochondrial" "lithostathine-1-beta" + "cytochrome c oxidase subunit 4 isoform 2, mitochondrial" "parathyroid disease" "Wyeomyia smithii" "level of N-acetylglutamate synthase, mitochondrial in blood serum" @@ -26913,9 +26913,9 @@ "PR segment" "lactase-like protein" "partial deletion of the long arm of chromosome 11" + "obsolete_hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" "X-12465 measurement" "HEK-293H" - "obsolete_hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" "X-linked intellectual disability-cerebellar hypoplasia syndrome" "electric current unit" "interleukin-17C measurement" @@ -26950,18 +26950,18 @@ "synaptogyrin-3" "intellectual disability-epilepsy-extrapyramidal syndrome" "obsolete_preaxial polydactyly of fingers" - "obsolete_scalp-ear-nipple syndrome" "LN-308" - "Ureaplasma urealyticum urethritis" + "obsolete_scalp-ear-nipple syndrome" "level of defensin beta 118 in blood serum" + "Ureaplasma urealyticum urethritis" "inborn disorder of biogenic amine metabolism and transport" "microeinstein per square meter per second" "arthrogryposis-severe scoliosis syndrome" "level of phosphatidate phosphatase LPIN1 in blood serum" "level of eukaryotic translation initiation factor 4E in blood serum" "orofacial cleft 1" - "malonyl-CoA decarboxylase, mitochondrial measurement" "dihomo-gamma-linoleic acid measurement" + "malonyl-CoA decarboxylase, mitochondrial measurement" "hypolipoproteinemia" "Aggregatibacter actinomycetemcomitans" "sulfite oxidase activity" @@ -26993,8 +26993,8 @@ "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" "extra-adrenal sympathetic paraganglioma" "BICR 78" - "phospholipids in very large HDL measurement " "Saccharomyces mikatae" + "phospholipids in very large HDL measurement " "obsolete_Autosomal recessive axonal Charcot-Marie-Tooth disease type 2" "Gardner syndrome" "GM13977" @@ -27005,9 +27005,9 @@ "tetrasaccharide (glycogen, stachyose) measurement" "arylamine N-acetyltransferase 1 measurement" "focal segmental glomerulosclerosis 9" + "vancomycin trough measurement" "PSAP-related sphingolipidosis" "level of nuclear factor NF-kappa-B p105 subunit in blood serum" - "vancomycin trough measurement" "level of MHC class I histocompatibility antigen, alpha chain E in blood serum" "Drop-seq" "autosomal dominant osteosclerosis, Worth type" @@ -27020,8 +27020,8 @@ "platelet component distribution width" "tRNA (adenine-N(1)-)-methyltransferase non-catalytic subunit TRM6" "aurora kinase B measurement" - "Mus musculus x Mus spretus" "5alpha-androstan-3beta,17beta-diol disulfate measurement" + "Mus musculus x Mus spretus" "obsolete_somite 14" "carnitine-acylcarnitine translocase deficiency" "partial deletion of chromosome 18" @@ -27060,8 +27060,8 @@ "alpha-N-acetylneuraminide alpha-2,8-sialyltransferase" "ototoxicity" "e3 ubiquitin-protein ligase parkin measurement" - "level of vacuolar protein sorting-associated protein 26A in blood serum" "pleckstrin homology domain-containing family O member 2" + "level of vacuolar protein sorting-associated protein 26A in blood serum" "Hyperplasia of the endometrium" "Gabriele de Vries syndrome" "epidermal growth factor measurement"@en @@ -27072,9 +27072,9 @@ "delta-like protein 3" "Infectious encephalitis" "high grade ovarian serous adenocarcinoma" + "colonic pseudo-obstruction" "arthrogryposis multiplex congenita" "leukotriene a-4 hydrolase measurement" - "colonic pseudo-obstruction" "pleural empyema" "megalocornea" "progressive external ophthalmoplegia" @@ -27089,11 +27089,11 @@ "GM08388" "epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive" "intellectual disability, X-linked 99, syndromic, female-restricted" - "So-Eum" "myelodysplastic syndrome" + "So-Eum" "autoimmune retinopathy" - "level of draxin in blood serum" "Thickened helices" + "level of draxin in blood serum" "nuclear pore membrane glycoprotein 210-like measurement" "Leishmania mexicana" "obsolete_pancreas" @@ -27188,8 +27188,8 @@ "xylulose kinase" "Alzheimer's disease neuropathologic change" "indolent primary cutaneous T-cell lymphoma" - "cob" "obsolete_X-linked spinocerebellar ataxia type 4" + "cob" "Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis" "ITM2B amyloidosis" "Tessier number 6 facial cleft" @@ -27296,9 +27296,9 @@ "NTF2-related export protein 1 measurement" "pediatric fibrosarcoma" "SUM52PE" - "arachidic acid measurement" "appendicitis" "1-stearoyl-2-docosapentaenoyl-GPC (18:0/22:5n6) measurement" + "arachidic acid measurement" "obsolete cataract - glaucoma" "3-(3-amino-3-carboxypropyl)uridine measurement" "right cardiac atrium" @@ -27325,8 +27325,8 @@ "level of sentrin-specific protease 8 in blood serum" "hemoglobin subunit epsilon" "rho guanine nucleotide exchange factor 25 measurement" - "GM17210" "total lipids in medium LDL" + "GM17210" "spinocerebellar ataxia type 19/22" "ankyrin repeat domain-containing protein 63" "van den Bosch syndrome" @@ -27349,9 +27349,9 @@ "obsolete deficiency of the interleukin-36 receptor antagonist" "CD4-positive, CD25-positive, alpha-beta regulatory T cell" "Xanthomonas axonopodis pv. citri str. 306" - "X-linked intellectual disability, Shrimpton type" "urea cycle disorder or inherited hyperammonemia" "GM17171" + "X-linked intellectual disability, Shrimpton type" "lung leiomyoma" "phosphatidylcholine O-38:6" "recombinant congenic strain" @@ -27409,9 +27409,9 @@ "level of transcription regulator protein BACH2 in blood serum" "hypopigmentation of eyelid" "sleep depth" - "obsolete_split foot" "obsolete_focal, segmental or multifocal dystonia" "Hypertelorism, Teebi type" + "obsolete_split foot" "idiopathic hypersomnia" "X-11876 measurement" "level of transcription factor CP2-like protein 1 in blood serum" @@ -27518,8 +27518,8 @@ "Nephrosis - deafness - urinary tract - digital malformations" "Elevated urinary delta-aminolevulinic acid" "HEK293" - "HUES53" "obsolete_Gorlin syndrome" + "HUES53" "Bloody diarrhea" "temporal lobe" "glutamine conjugate of C6H10O2 (2) measurement" @@ -27596,9 +27596,9 @@ "3-methyl-2-oxovalerate" "Solanum lycopersicum" "polymorphic light eruption" + "obsolete_Oculopharyngodistal myopathy" "hereditary pulmonary alveolar proteinosis" "cytokine" - "obsolete_Oculopharyngodistal myopathy" "protein FAM221A" "rheumatic disease" "macroglossia" @@ -27734,8 +27734,8 @@ "obsolete_intellectual disability-obesity-prognathism-eye and skin anomalies syndrome" "T-cell differentiation antigen CD6 (human)" "obsolete_humeral agenesis/hypoplasia, unilateral" - "hilar cholangiocarcinoma" "parietal cell" + "hilar cholangiocarcinoma" "obsolete_Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion" "partial deletion of chromosome 19" "EB3" @@ -27849,8 +27849,8 @@ "GM10832" "Valine-d8" "level of integrin alpha-4 in blood serum" - "obsolete isolated oxidative phosphorylation complex disorder" "level of V-type proton ATPase subunit C 2 in blood serum" + "obsolete isolated oxidative phosphorylation complex disorder" "candidiasis" "Salix viminalis" "submaxillary gland androgen-regulated protein 3A" @@ -27925,15 +27925,15 @@ "Birt-Hogg-Dubé syndrome" "level of IST1 homolog in blood serum" "obsolete_autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures" - "childhood brain germinoma" "obsolete_loose anagen syndrome" + "childhood brain germinoma" + "obsolete_duodenal atresia" "Elevated circulating 7-dehydrocholesterol concentration" "Bombyx mori" - "obsolete_duodenal atresia" "protein 4.1" "level of mitochondrial-processing peptidase subunit alpha in blood serum" - "cortisone measurement" "very long-chain saturated fatty acid measurement" + "cortisone measurement" "posterior lateral line nerve" "Macrotia" "GRACILE syndrome" @@ -27941,18 +27941,18 @@ "N-acetylcitrulline measurement" "partial duplication of chromosome 12" "SW954" - "biceps brachii" "cysteine-glutathione disulfide measurement" + "biceps brachii" "carbonic anhydrase 7 measurement" "congenital vitreoretinal dysplasia" "German syndrome" "O-decanoyl-L-carnitine" "homeobox protein TGIF2" + "bakers yeast extract measurement" "hereditary spastic paraplegia 32" "double-strand break repair protein MRE11" "obsolete May-Hegglin anomaly" "level of Sphingofungin B in blood serum" - "bakers yeast extract measurement" "TRAP-Seq" "schwannomatosis" "level of surfeit locus protein 1 in blood serum" @@ -27980,8 +27980,8 @@ "Tauroursodeoxycholic acid measurement" "infantile liver failure" "obsolete_GMS syndrome" - "cas scaffolding protein family member 4 measurement" "Propionibacterium acnes" + "cas scaffolding protein family member 4 measurement" "ribosomal protein S6 kinase alpha-6 measurement" "hereditary angioedema type 3" "obsolete_Generalized pustular psoriasis" @@ -28086,14 +28086,14 @@ "cystatin B measurement"@en "carbohydrate metabolism disease" "neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly" - "cingulate cortex" - "diabetic eye disease" "obsolete_spinocerebellar ataxia type 32" "cholesteatoma of external ear" + "cingulate cortex" + "diabetic eye disease" + "common wart" "radixin" "cyclin-A2" "D-glucuronyl C5-epimerase" - "common wart" "Gordon syndrome" "5-8F" "level of prokineticin-2 in blood serum" @@ -28138,10 +28138,10 @@ "nuclear factor erythroid 2-related factor 1 measurement" "protein jagged-1 measurement" "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8" + "Holoprosencephaly - craniosynostosis" "low affinity immunoglobulin gamma Fc region receptor II-a measurement" "skin barrier function measurement" "obsolete marginal papular palmoplantar keratoderma" - "Holoprosencephaly - craniosynostosis" "Melon necrotic spot virus" "low density lipoprotein receptor adapter protein 1" "Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy" @@ -28187,14 +28187,14 @@ "uncharacterized protein KIAA0040 (human)" "erythritol measurement" "familial abdominal aortic aneurysm" - "obsolete_reticulate acropigmentation of Kitamura" "scalp" - "pulmonary mucoepidermoid carcinoma" + "obsolete_reticulate acropigmentation of Kitamura" "level of E3 ubiquitin ligase TRIM40 in blood serum" + "pulmonary mucoepidermoid carcinoma" "Furuncle" "chromodomain-helicase-DNA-binding protein 7 measurement" - "GM17779" "t-SNARE domain-containing protein 1" + "GM17779" "CORL88" "Renal pseudohypoaldosteronism type 1" "Sertoli Cell-Only Syndrome" @@ -28212,8 +28212,8 @@ "level of endosialin in blood serum" "Gr1-positive, CD43-positive monocyte" "obsolete_Allan-Herndon-Dudley syndrome" - "level of cerebral cavernous malformations 2 protein in blood serum" "Cryptococcus" + "level of cerebral cavernous malformations 2 protein in blood serum" "Sinonasal Undifferentiated Carcinoma" "obsolete cranial nerve and nuclear aplasia" "parietal lobe" @@ -28231,8 +28231,8 @@ "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14" "obsolete_neurofibromatosis type 1" "Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia" - "nausea and vomiting of pregnancy severity measurement" "Piriformospora indica" + "nausea and vomiting of pregnancy severity measurement" "obsolete_isolated focal cortical dysplasia type IIb" "embryonic antennal sense organ" "recombinase activating gene 1 deficiency" @@ -28311,8 +28311,8 @@ "obsolete_bronchiole" "progeroid and marfanoid aspect-lipodystrophy syndrome" "HeLa" - "obsolete hypoglossia/aglossia" "butyrophilin-like protein 9 measurement" + "obsolete hypoglossia/aglossia" "ureter adenocarcinoma" "3 inflorescence detectable stage" "obsolete_root cap" @@ -28493,8 +28493,8 @@ "chronic disease" "Spermophilus lateralis" "dual specificity protein phosphatase 21" - "X-12524 measurement" "ligament cell" + "X-12524 measurement" "level of Phosphatidylcholine (16:0_18:3) in blood serum" "soluble triggering receptor expressed on myeloid cells 2 measurement" "congenital disorder of glycosylation, type IIq" @@ -28507,16 +28507,16 @@ "pulmonary neuroendocrine tumor" "myosin-binding protein C, cardiac-type" "Genetic acrokeratoderma" - "glutaredoxin-like protein C5orf63" "inherited cutis laxa" + "glutaredoxin-like protein C5orf63" "obsolete_Hispanic" "obsolete_lissencephaly with cerebellar hypoplasia type B" "acute myeloid leukemia, biallelic CEBPA gene mutation" "Ruegeria pomeroyi" "tubulin polymerization-promoting protein family member 2 measurement" "suprabasin measurement" - "Ehlers-Danlos syndrome, periodontal type 2" "WRL-68" + "Ehlers-Danlos syndrome, periodontal type 2" "myopericytoma" "neurexophilin-2" "autosomal recessive spastic paraplegia type 71" @@ -28608,12 +28608,12 @@ "level of chromobox protein homolog 3 in blood serum" "NAD-dependent protein deacetylase sirtuin-3, mitochondrial" "acute myeloid leukemia, t(11;19)(q23;p13)" - "phosphatidylcholine 38:4 measurement"@en "NAD-dependent protein deacetylase sirtuin-2 measurement" + "phosphatidylcholine 38:4 measurement"@en "orofaciodigital syndrome X" "mouth floor" - "undefined ancestry population" "obsolete_lateral root" + "undefined ancestry population" "gonadal germ cell tumor" "occipital lateral line neuromast" "nucleotide exchange factor SIL1" @@ -28661,11 +28661,11 @@ "spike-in quality control role" "Bartter disease type 4A" "ribulose-phosphate 3-epimerase measurement" + "Lysosomal disease" "retinol-binding protein 1" "protein lin-7 homolog B measurement" "vitamin B12-responsive methylmalonic acidemia, type cblDv2" "autosomal dominant Charcot-Marie-Tooth disease type 2M" - "Lysosomal disease" "obsolete mitochondrial DNA depletion syndrome, hepatocerebral form" "dehydroisoandrosterone sulfate DHEA-S measurement" "familial gestational hyperthyroidism" @@ -28684,8 +28684,8 @@ "respiratory epithelial cell" "level of histone-lysine N-methyltransferase KMT5C in blood serum" "eukaryotic translation initiation factor 1" - "SUP-T1"@en "obsolete_familial focal epilepsy with variable foci" + "SUP-T1"@en "activated CD4-negative, CD8-negative type I NK T cell" "N-phosphocreatine" "hereditary hyperbilirubinemia" @@ -28785,9 +28785,9 @@ "level of BAG family molecular chaperone regulator 2 in blood serum" "obsolete_familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome" "Brachydactyly of fingers" + "RING finger protein 165 measurement" "tensin-2" "Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome" - "RING finger protein 165 measurement" "thrombocytopenia-Robin sequence syndrome" "X-12007 measurement" "blood pyridoxal measurement" @@ -28972,8 +28972,8 @@ "Metanephric Adenoma" "presumptive rhombomere 6" "facial paralysis" - "6-deoxotyphasterol" "C38:6 phosphatidylcholine plasmalogen measurement" + "6-deoxotyphasterol" "X-linked intellectual disability-ataxia-apraxia syndrome" "serine/threonine-protein kinase receptor R3 measurement" "hepatitis B virus, susceptibility to" @@ -29036,8 +29036,8 @@ "39S ribosomal protein L14, mitochondrial measurement" "level of ribosome-recycling factor, mitochondrial in blood serum" "combined small cell lung carcinoma" - "sinusitis" "X-linked dominant disease" + "sinusitis" "leukocyte immunoglobulin-like receptor subfamily A member 4" "Herpes simplex virus 2 seropositivity" "HG02885" @@ -29078,8 +29078,8 @@ "betacellulin measurement" "obsolete_autosomal dominant hereditary axonal motor and sensory neuropathy" "obsolete_adult-onset nemaline myopathy" - "hypomethylated partial restriction digest" "X-18887 measurement" + "hypomethylated partial restriction digest" "Rare genetic endocrine disease" "lysophosphatidylethanolamine 20:4" "right internal carotid artery" @@ -29095,9 +29095,9 @@ "TYK-nu.CP-r" "Finnish type amyloidosis" "prostate cancer cell line" + "Galloway-Mowat syndrome 10" "Endometrial Hyperplasia without Atypia" "GM17262" - "Galloway-Mowat syndrome 10" "demyelinating polyneuropathy" "dense deposit disease" "Glycine max" @@ -29193,8 +29193,8 @@ "Short long bone" "basal-like breast carcinoma" "tubulin--tyrosine ligase measurement" - "C2BBe1" "X-21796 measurement" + "C2BBe1" "fraction D precursor B cell" "RCBTB1-related retinopathy" "ureterolithiasis" @@ -29218,8 +29218,8 @@ "polydactyly" "diphosphomevalonate decarboxylase" "peripheral neuropathy" - "KMS-28BM" "obsolete_lens size anomaly" + "KMS-28BM" "obsolete_basal plate midbrain region" "obsolete_Familial symmetric lipomatosis" "Gastrointestinal hemorrhage" @@ -29279,8 +29279,8 @@ "somatic stem cell division" "NADPH--cytochrome P450 reductase measurement" "syndromic orbital border hypoplasia" - "vesicoureteral reflux" "juvenile myoclonic epilepsy" + "vesicoureteral reflux" "LMNA-related cardiocutaneous progeria syndrome" "Porphyromonas gingivalis ATCC 33277" "fenoldopam" @@ -29314,8 +29314,8 @@ "Pai syndrome" "Frank-Ter Haar syndrome" "AP-4 complex subunit mu-1" - "BRIC-seq" "TruePrime" + "BRIC-seq" "Pyogenic arthritis - pyoderma gangrenosum - acne" "level of synaptic vesicle glycoprotein 2A in blood serum" "Platelet-activating factor acetylhydrolase deficiency" @@ -29450,8 +29450,8 @@ "10x 3' v1" "chromosome 6q24-q25 deletion syndrome" "cholinergic urticaria" - "synapse" "gliomedin" + "synapse" "BT20" "level of poly(A) polymerase gamma in blood serum" "level of erythroid membrane-associated protein in blood serum" @@ -29461,16 +29461,16 @@ "Charcot-Marie-Tooth disease, axonal, type 2EE" "mouse prenatal" "skin fluorescence measurement" - "facial morphology" "cancer antigen 125 measurement"@en + "facial morphology" "tropomyosin alpha-4 chain measurement" "trichothiodystrophy 8, nonphotosensitive" "CMRF35-like molecule 6 measurement" "Blackfan-Diamond anemia" "grange syndrome" "intellectual disability, X-linked 106" - "Combined oxidative phosphorylation defect type 21" "RNA polymerase II elongation factor ELL measurement" + "Combined oxidative phosphorylation defect type 21" "familial thrombomodulin anomalies" "retinol-binding protein 2" "European bat lyssavirus 1" @@ -29481,12 +29481,12 @@ "animal developmental tissue" "diacylglycerol 33:3 measurement" "thrombophilia due to protein S deficiency, autosomal dominant" + "ETS domain-containing protein Elk-3 measurement" "facioscapulohumeral muscular dystrophy 2" "intrathoracic organ injury" - "ETS domain-containing protein Elk-3 measurement" "4-acetamidobutanoate measurement" - "malignant melanoma of the mucosa" "carbonic anhydrase-related protein 10 measurement" + "malignant melanoma of the mucosa" "M1 distant metastasis stage" "Buchnera sp." "level of zinc finger protein 41 in blood serum" @@ -29506,8 +29506,8 @@ "level of cerberus in blood serum" "fetal erythroblastosis" "BL-2" - "junctophilin-3 measurement" "obsolete_congenital enteropathy due to enteropeptidase deficiency" + "junctophilin-3 measurement" "cervical cancer" "X-12441--12-hydroxyeicosatetraenoate 12-HETE measurement" "sulfasalazine" @@ -29548,8 +29548,8 @@ "chymotrypsin-like elastase family member 2A measurement" "Truncal dystonia" "CROAP5" - "obsolete_mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency" "level of alpha-1,4-N-acetylglucosaminyltransferase in blood serum" + "obsolete_mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency" "Cataract associated with a metabolic disease" "PAT-Seq" "dynein light chain Tctex-type 1" @@ -29760,11 +29760,11 @@ "level of electron transfer flavoprotein subunit alpha, mitochondrial in blood serum" "protein SEC13 homolog measurement" "Autosomal dominant Charcot-Marie-Tooth disease type 2C" - "spastic paraplegia 80, autosomal dominant" "labelling" + "spastic paraplegia 80, autosomal dominant" "temtamy syndrome" - "fresh specimen" "CD103-positive dendritic cell" + "fresh specimen" "methyl filtration" "X-18888 measurement" "obsolete_congenital or early infantile CACH syndrome" @@ -29851,8 +29851,8 @@ "NMMA measurement" "heterotaxy, visceral, 12, autosomal" "obsolete_retinal macular dystrophy type 2" - "palmdelphin" "collagen alpha-2(VI) chain" + "palmdelphin" "Chitayat syndrome" "Connective tissue disorder due to lysyl hydroxylase-3 deficiency" "maculopapular cutaneous mastocytosis" @@ -29884,8 +29884,8 @@ "congenital sodium diarrhea" "obsolete male infertility with azoospermia or oligozoospermia due to single gene mutation" "therapy related acute myeloid leukemia and myelodysplastic syndrome" - "serine/threonine-protein kinase 4" "benign vaginal neoplasm" + "serine/threonine-protein kinase 4" "3-Indolepropionic acid to Sarcosine ratio" "obsolete_lens position anomaly" "congenital hypothyroidism" @@ -29915,11 +29915,11 @@ "level of Phosphatidylcholine (O-16:1_18:2) in blood serum" "ATP-dependent RNA helicase DHX8 measurement" "LOC syndrome" - "HuT78" "level of high mobility group protein 20A in blood serum" + "HuT78" "theophylline measurement" - "cortical opacity measurement" "Senior-Loken syndrome 6" + "cortical opacity measurement" "hyperparathyroidism 2 with jaw tumors" "level of heterogeneous nuclear ribonucleoprotein F in blood serum" "Acropora millepora" @@ -29952,6 +29952,7 @@ "obsolete_Yoruba" "level of carcinoembryonic antigen-related cell adhesion molecule 3 in blood serum" "iron(III) dicitrate(3-)" + "Genetic cardiac tumor" "level of dual specificity protein phosphatase 15 in blood serum" "natural cytotoxicity triggering receptor 3 measurement" "congenital toxoplasmosis" @@ -29959,7 +29960,6 @@ "isolated delta-storage pool disease" "Pulmonary lymphangiectasia" "Lafora disease" - "Genetic cardiac tumor" "intracranial hypertension" "cardiac rhythm disease" "20q11.2 microduplication syndrome" @@ -29976,8 +29976,8 @@ "obsolete_Zellweger-like syndrome without peroxisomal anomalies" "level of cAMP-dependent protein kinase type II-beta regulatory subunit in blood serum" "praziquantel" - "Achondrogenesis type 2" "squamous cell bile duct carcinoma" + "Achondrogenesis type 2" "ADAMTS13 activity measurement" "obsolete_sarcoidosis" "DNA sequencer" @@ -30120,8 +30120,8 @@ "reticulum cell sarcoma" "severe combined immunodeficiency due to CARD11 deficiency" "experiment accession" - "prostaglandin F2 receptor negative regulator measurement" "trait in response to apixaban" + "prostaglandin F2 receptor negative regulator measurement" "X-23657 measurement" "postmenopausal" "Staphylococcus aureus subsp. aureus COL" @@ -30142,9 +30142,9 @@ "stem Cell Growth Factor-beta measurement" "renovascular hypertension" "appetite-regulating hormone measurement" - "Swiss3" "R11" "splenogonadal fusion-limb defects-micrognathia syndrome" + "Swiss3" "sporadic idiopathic steroid-resistant nephrotic syndrome" "phosphatidylcholine 38:6 measurement"@en "obsolete_brain stem" @@ -30168,9 +30168,9 @@ "hip bone mineral density" "obsolete autosomal dominant limb-girdle muscular dystrophy type 1A" "SiHa" - "carboxypeptidase e measurement" "level of pregnancy-specific beta-1-glycoprotein 5 in blood serum" "17,20-lyase deficiency, isolated" + "carboxypeptidase e measurement" "handedness" "subepithelial mucinous corneal dystrophy" "Heat Stroke" @@ -30186,14 +30186,14 @@ "obsolete_CADDS" "level of liver carboxylesterase 1 in blood serum" "bile acid biosynthetic process" + "obsolete_Myhre syndrome" "familial multiple fibrofolliculoma" "papillary eccrine carcinoma" - "obsolete_Myhre syndrome" "Charcot-Marie-Tooth disease, demyelinating, IIA 1H" "cerebral white matter volume change measurement"@en "obsolete_Bloom syndrome" - "GM17271" "obsolete_tetralogy of fallot" + "GM17271" "mature Vgamma2-positive thymocyte" "LCL2" "dye swap quality control role"@en @@ -30220,8 +30220,8 @@ "combined immunodeficiency due to CRAC channel dysfunction" "peptidyl-prolyl cis-trans isomerase FKBP3" "bacterial hemorrhagic fever" - "level of zinc finger protein 410 in blood serum" "cardioacrofacial dysplasia 1" + "level of zinc finger protein 410 in blood serum" "thymidine phosphorylase" "spermidine synthase" "obsolete_microlissencephaly" @@ -30261,17 +30261,17 @@ "zinc finger protein 134 measurement" "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome" "level of kidney-associated antigen 1 in blood serum" - "obsolete_ventricular septal defect" "level of 14-3-3 protein eta in blood serum" "intraductal papilloma" + "obsolete_ventricular septal defect" "CD8-alpha-beta-positive, alpha-beta intraepithelial T cell" "petal differentiation and expansion stage" "level of Phosphatidylcholine (O-16:0_18:1) in blood serum" "obsolete mitochondrial complex II deficiency" "level of harmonin in blood serum" "level of transcription elongation factor A protein 1 in blood serum" - "gallbladder leiomyoma" "Peyer's patch" + "gallbladder leiomyoma" "X-linked intellectual disability, Turner type" "pregnancy-specific beta-1-glycoprotein 9 measurement" "peroxisome biogenesis disorder 1A (Zellweger)" @@ -30302,18 +30302,18 @@ "Nephronophthisis" "obsolete_floor plate rhombomere 4" "adenocarcinoma" - "pharyngula high-pec" "isobutyryl-CoA dehydrogenase deficiency" + "pharyngula high-pec" "creatine kinase measurement" "DSGEGDFXAEGGGVR-to-ADpSGEGDFXAEGGGVR ratio" "global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome" + "Adult-onset dystonia-parkinsonism" "organelle membrane" "level of pre-mRNA-processing factor 19 in blood serum" - "Adult-onset dystonia-parkinsonism" - "level of Myb/SANT-like DNA-binding domain-containing protein 2 in blood serum" "Hohenlieth ecotype" - "sclerosteosis 2" + "level of Myb/SANT-like DNA-binding domain-containing protein 2 in blood serum" "MHC-II-positive classical monocyte" + "sclerosteosis 2" "obsolete_ejaculatory duct" "acyl-coenzyme A thioesterase THEM4" "obsolete_hand-foot-genital syndrome" @@ -30366,8 +30366,8 @@ "friendship satisfaction measurement" "partial duplication of chromosome 3" "deep cell layer (gastrulation)" - "Joint stiffness" "fibromuscular dysplasia" + "Joint stiffness" "level of Phosphatidylcholine (16:1_18:2) in blood serum" "chromosome 15q11.2 deletion syndrome" "alpha-(1,3)-fucosyltransferase 11" @@ -30491,9 +30491,9 @@ "Endometrial Mucinous Adenocarcinoma" "Multiple skeletal anomalies" "mouse embryonic fibroblast cell" + "electroencephalogram measurement" "ozone" "GM12056" - "electroencephalogram measurement" "Abnormal thyroid-stimulating hormone level" "cotyledon" "SS3-Seq" @@ -30519,10 +30519,10 @@ "aspartate aminotransferase measurement" "C-type lectin domain family 2 member A measurement" "Usher syndrome type 3A" - "obsolete_Ketoacidosis due to beta-ketothiolase deficiency" "aminoadipic acid measurement"@en "Western equine encephalitis" "esophageal endoderm" + "obsolete_Ketoacidosis due to beta-ketothiolase deficiency" "complement C1q tumor necrosis factor-related protein 1" "Weiss-Kruszka syndrome" "disease prognosis measurement" @@ -30647,8 +30647,8 @@ "nervousness" "ovarian dysfunction" "Helicobacter pylori 26695" - "Abnormal foot morphology" "dependent personality disorder" + "Abnormal foot morphology" "FaDu" "X-linked cone-rod dystrophy" "bladder urothelial cell" @@ -30657,8 +30657,8 @@ "familial visceral amyloidosis" "FUN14 domain-containing protein 1" "neurodegeneration with brain iron accumulation 5" - "level of disintegrin and metalloproteinase domain-containing protein 7 in blood serum" "Dystrophic epidermolysis bullosa" + "level of disintegrin and metalloproteinase domain-containing protein 7 in blood serum" "obsolete_urocanic aciduria" "branchial arch disease" "blood island" @@ -30801,8 +30801,8 @@ "peptide measurement"@en "KMS-34" "Physcomitrella patens" - "nitrofurantoin" "obsolete_humero-radial synostosis, bilateral" + "nitrofurantoin" "obsolete_acrofacial dysostosis, Catania type" "Abnormal skull morphology" "Desulfovibrio halophilus" @@ -30818,8 +30818,8 @@ "shigella phage virus seropositivity" "neurogenic locus notch homolog protein 1 measurement" "ig Kappa chain V-I region HK102- like measurement" - "segmentation 20-25 somites" "LY294002" + "segmentation 20-25 somites" "Coronaviridae infectious disease" "triacylglycerol 48:0 measurement"@en "obsolete_locus coeruleus" @@ -30834,9 +30834,9 @@ "obsolete_immunodeficiency due to CD25 deficiency" "obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase" "light regimen" - "Primary basilar impression" "BH4-deficient hyperphenylalaninemia A" "concentration of large VLDL particles measurement" + "Primary basilar impression" "Mitochondrial myopathy" "female infertility due to oocyte meiotic arrest" "myopathy, centronuclear, 5" @@ -30857,8 +30857,8 @@ "diabetes insipidus, nephrogenic, autosomal" "listeriolysin" "steroidogenic acute regulatory protein, mitochondrial measurement" - "Tube feeding" "retinal artery occlusion" + "Tube feeding" "NCI-H2073" "Swiss5" "beta thalassemia" @@ -30868,8 +30868,8 @@ "phosphatidylcholine acyl-alkyl C34:0 measurement" "angiopoietin-like protein 8" "viral encephalitis" - "obsolete_Blepharophimosis - epicanthus inversus - ptosis" "level of glycoprotein hormone alpha-2 in blood serum" + "obsolete_Blepharophimosis - epicanthus inversus - ptosis" "level of TERF1-interacting nuclear factor 2 in blood serum" "creatine kinase S-type, mitochondrial" "cholestasis" @@ -30980,8 +30980,8 @@ "Progressive hearing impairment" "NCI-H2106" "level of catenin alpha-1 in blood serum" - "Golgi phosphoprotein 3" "alanine aminotransferase 1 measurement" + "Golgi phosphoprotein 3" "neurodevelopmental disorder with central and peripheral motor dysfunction" "posthitis" "level of Ras-related protein Rab-38 in blood serum" @@ -31015,14 +31015,14 @@ "cofilin-1 measurement" "obsolete_Patterson-Stevenson-Fontaine syndrome" "personality trait measurement" + "response to rate control therapy" "ampicillin" - "TBC1 domain family member 28" "isolated thyrotropin-releasing hormone deficiency" - "hereditary spastic paraplegia 57" + "TBC1 domain family member 28" "obsolete Joint laxity" "immunodeficiency-centromeric instability-facial anomalies syndrome" "obsolete_endoderm" - "response to rate control therapy" + "hereditary spastic paraplegia 57" "brain stem volume measurement"@en "NT-proBNP measurement" "cone-rod dystrophy 12" @@ -31106,12 +31106,12 @@ "velo-facial-skeletal syndrome" "DMS-Seq" "Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes" + "triglycerides in LDL measurement " "tetranectin measurement"@en "Flock house virus" "familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" "Ehlers-Danlos syndrome, dermatosparaxis type" "blood metabolite measurement" - "triglycerides in LDL measurement " "obsolete_polydactyly of a triphalangeal thumb" "female infertility due to zona pellucida defect" "cholesterol in medium HDL measurement " @@ -31152,8 +31152,8 @@ "trigonelline (N'-methylnicotinate) measurement" "obsolete_floor plate rhombomere 7" "obsolete_ethylmalonic encephalopathy" - "pharyngula prim-15" "lysosomal acid phosphatase measurement" + "pharyngula prim-15" "serum albumin measurement" "2-hydroxybehenate measurement" "caspase recruitment domain-containing protein 9" @@ -31208,9 +31208,9 @@ "ubiquitin-conjugating enzyme E2 N" "obsolete_interventricular septum aneurysm" "nasal cavity and paranasal sinus neoplasm" - "grancalcin" "Atrial stand still" "protein Largen measurement" + "grancalcin" "response to atorvastatin" "oligonucleotide synthesizer" "inositol polyphosphate-4-phosphatase type I A" @@ -31251,13 +31251,13 @@ "blood protein measurement" "obsolete congenital absence/hypoplasia of thumb, unilateral" "cutaneous porphyria" - "Kaler-Garrity-Stern syndrome" "level of protein-tyrosine phosphatase mitochondrial 1 in blood serum" + "Kaler-Garrity-Stern syndrome" "dopaminergic antagonist" "adenosquamous prostate carcinoma" + "oleoyl leucine measurement" "endometriosis of intestine" "cefazolin" - "oleoyl leucine measurement" "complement factor H deficiency" "obsolete_hyomandibula" "intellectual disability and myopathy syndrome" @@ -31269,9 +31269,9 @@ "glutathione peroxidase 7" "recessive spherocytosis"@en "Huntington disease-like syndrome" + "obsolete_torsade-de-pointes syndrome with short coupling interval" "input DNA" "nuclear apoptosis-inducing factor 1" - "obsolete_torsade-de-pointes syndrome with short coupling interval" "thioredoxin-like protein 1" "Hyperostosis" "sudden sensorineural hearing loss" @@ -31317,8 +31317,8 @@ "obsolete_acral dystrophic epidermolysis bullosa" "Corneal dystrophy - perceptive deafness" "obsolete_tuberous sclerosis" - "Secretory diarrhea" "thioredoxin measurement" + "Secretory diarrhea" "sodium nitroprusside" "hereditary cerebellar ataxia" "obsolete_hyperphosphatasia-intellectual disability syndrome" @@ -31409,26 +31409,26 @@ "tumor necrosis factor ligand superfamily member 12 measurement" "BJ" "ras-related protein Rab-26 measurement" - "CMRF35-like molecule 8 measurement" "lethal congenital contracture syndrome 3" "congenital cataracts-facial dysmorphism-neuropathy syndrome" + "CMRF35-like molecule 8 measurement" "paragangliomas 5" "rab gdp dissociation inhibitor beta measurement" "RIP" "S-arrestin" "46,xx sex reversal 5" "Benign Kidney Neoplasm" + "X-linked intellectual disability, Snyder type" "Lactobacillus helveticus" "eosinophilic esophagitis" - "X-linked intellectual disability, Snyder type" "S-[2,3-bis(palmitoyloxy)propyl]-Cys-Ser-Lys-Lys-Lys-Lys" "X-12644 measurement" "[Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial measurement" "taste liking measurement" "Breast mass" "GM09581" - "obsolete_ichthyosis prematurity syndrome" "childhood optic tract astrocytoma" + "obsolete_ichthyosis prematurity syndrome" "level of tachykinin-4 in blood serum" "level of protein SEC13 in blood serum" "Congenital cataract microcornea with corneal opacity" @@ -31442,8 +31442,8 @@ "ABeta amyloidosis, dutch type" "chromosome 9 disorder" "choanal atresia" - "neugrin measurement" "acquired angioedema" + "neugrin measurement" "leucine-rich repeat-containing protein 4" "obsolete_Bothnia retinal dystrophy" "age of onset of Alzheimer disease" @@ -31460,9 +31460,9 @@ "obsolete_adult neuronal ceroid lipofuscinosis" "level of ubiquitin carboxyl-terminal hydrolase 21 in blood serum" "frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome" - "obsolete_isolated glycerol kinase deficiency" "Benign familial chorea" "angiokeratoma corporis diffusum with arteriovenous fistulas" + "obsolete_isolated glycerol kinase deficiency" "X-02973 measurement" "loricrin keratoderma" "pestivirus infectious disease, non-human animal" @@ -31474,9 +31474,9 @@ "stathmin" "interferon-induced GTP-binding protein Mx1" "urinary tract infection" + "phosphocreatine measurement"@en "hyperandrogenism" "obsolete_response to flurouracil" - "phosphocreatine measurement"@en "tRNA 2'-phosphotransferase 1" "obsolete_lens shape anomaly" "hyoid muscle" @@ -31494,14 +31494,14 @@ "obsolete developmental defect of the eye" "ETS domain-containing protein Elk-4" "intellectual disability, X-linked 21" - "staphylococcus phage virus seropositivity" "hephaestin-like protein 1 measurement" - "clonal hematopoiesis mutation measurement"@en + "staphylococcus phage virus seropositivity" "vaginal adenosarcoma" + "clonal hematopoiesis mutation measurement"@en "triacylglycerol 48:1 measurement"@en "neutral ceramidase measurement" - "coronavirus infectious disease" "LP.06 six leaves visible stage" + "coronavirus infectious disease" "level of Phosphatidylcholine (O-16:1_20:4) in blood serum" "segmentation 26+ somites" "level of xyloside xylosyltransferase 1 in blood serum" @@ -31596,8 +31596,8 @@ "F9 mouse embryonal carcinoma cell line" "phosphatidylcholine acyl-alkyl C34:1 measurement" "viral hemorrhagic septicemia" - "obsolete_Borjeson-Forssman-Lehmann syndrome" "level of gephyrin in blood serum" + "obsolete_Borjeson-Forssman-Lehmann syndrome" "level of TIMELESS-interacting protein in blood serum" "megaconial type congenital muscular dystrophy" "large ribosomal subunit protein P2" @@ -31658,9 +31658,9 @@ "hemoglobinopathy Toms River" "obsolete_congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency" "obsolete_partial deletion of the long arm of chromosome 5" - "igLON family member 5 measurement" "braddock-carey syndrome 2" "homovanillic acid" + "igLON family member 5 measurement" "Golgi phosphoprotein 3-like" "citrate(1-)" "N-palmitoyl-heptadecasphingosine (d17:1/16:0) measurement" @@ -31683,9 +31683,9 @@ "E3 ubiquitin-protein ligase RNF146" "prostaglandin-H2 D-isomerase measurement" "Disorder of lysosomal amino acid transport" + "obsolete_bilateral perisylvian polymicrogyria" "obsolete_14q24.1q24.3 microdeletion syndrome" "arachidonate 20:4n6-to-1-arachidonoylglycerophosphoinositol ratio" - "obsolete_bilateral perisylvian polymicrogyria" "small integral membrane protein 24" "precursor B cell" "Crigler-Najjar syndrome" @@ -31738,14 +31738,14 @@ "obsolete_Jackson-Weiss syndrome" "speech disorder" "arachindonoyl phenylalanine measurement" - "cervical dystonia" "level of beta-1,3-N-acetylglucosaminyltransferase manic fringe in blood serum" + "cervical dystonia" "DNA-binding protein inhibitor ID-2 measurement" "L-Threonine measurement" "obsolete_ghosal hematodiaphyseal dysplasia" "PHARC syndrome" - "Genetic disorder of sex development of gynecological interest" "autoimmune disorder of the nervous system" + "Genetic disorder of sex development of gynecological interest" "peak-valley respiratory sinus arrhythmia or high frequency power" "Spastic paraplegia - precocious puberty" "obsolete_sciatic nerve" @@ -31839,9 +31839,9 @@ "obsolete_thoracolumbosacral spina bifida cystica" "orofaciodigital syndrome V" "ST-1" + "multiple acyl-CoA dehydrogenase deficiency, severe neonatal type" "Caki1" "epidermolysis bullosa, junctional 4, intermediate" - "multiple acyl-CoA dehydrogenase deficiency, severe neonatal type" "2-stearoyl-GPI (18:0) measurement" "Coats plus syndrome" "beta-crystallin B1" @@ -31874,8 +31874,8 @@ "trait in response to erlotinib" "2-hydroxynervonate measurement" "calcium-regulated heat-stable protein 1" - "HUES28" "obsolete_attenuated familial adenomatous polyposis" + "HUES28" "protein NDNF measurement" "Enterovirus infectious disease" "Kindalville ecotype" @@ -31893,9 +31893,9 @@ "obsolete_LEOPARD syndrome" "zinc finger CCCH domain-containing protein 8" "deoxycholate" - "ear protrusion" "retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome" "AB1" + "ear protrusion" "papillary squamous carcinoma" "developmental pluripotency-associated protein 4" "obsolete_ulnar hemimelia, unilateral" @@ -32064,11 +32064,11 @@ "Talipes equinovarus" "transcobalamin-2" "epilepsy, idiopathic generalized, susceptibility to, 18" - "gonococcal cervicitis" "obsolete_diffuse palmoplantar keratoderma" + "gonococcal cervicitis" "Heterodera glycines" - "Drosophila mojavensis" "level of kelch-like protein 13 in blood serum" + "Drosophila mojavensis" "Cardiomyopathy - cataract - hip spine disease" "level of a disintegrin and metalloproteinase with thrombospondin motifs 3 in blood serum" "childhood choriocarcinoma of the ovary" @@ -32100,9 +32100,9 @@ "5-methylthioribose measurement" "VACTERL with hydrocephalus" "multiple myeloma" - "blood galactosylceramidase activity measurement"@en "hemoglobin subunit zeta" "undecenoylcarnitine (C11:1) measurement" + "blood galactosylceramidase activity measurement"@en "CADASIL" "obsolete_gonad primordium" "X-06350 measurement" @@ -32117,8 +32117,8 @@ "1-linolenoyl-GPE (18:3) measurement" "chromosome 10 disorder" "neural proliferation differentiation and control protein 1 measurement" - "spinal cord lymphoma" "Orientia tsutsugamushi" + "spinal cord lymphoma" "neurodevelopmental disorder with or without variable movement or behavioral abnormalities" "EEG with generalized epileptiform discharges" "cholesteryl ester 17:0 measurement" @@ -32211,9 +32211,9 @@ "RNA polymerase II elongation factor ELL" "streptococcus virus phage virus seropositivity" "high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor measurement" + "triacylglycerol 48:2 measurement"@en "colon neuroendocrine neoplasm" "TIP41-like protein" - "triacylglycerol 48:2 measurement"@en "neutrophil collagenase measurement" "cowpox" "obsolete thrombotic disorder due to a constitutional coagulation factors defect" @@ -32325,8 +32325,8 @@ "level of bMERB domain-containing protein 1 in blood serum" "breast neuroendocrine neoplasm" "sublingual gland carcinoma" - "uveal disorder" "obsolete_developmental anomaly of metabolic origin" + "uveal disorder" "embryonic cuprophilic cell" "Autosomal dominant spastic paraplegia type 42" "X-03003 measurement" @@ -32353,8 +32353,8 @@ "myeloid sarcoma" "hippocampal CA4 volume" "level of neuronal acetylcholine receptor subunit beta-3 in blood serum" - "Syndrome with hypoparathyroidism" "piezo-type mechanosensitive ion channel component 1" + "Syndrome with hypoparathyroidism" "Microcephaly - cleft palate" "carcinoma of floor of mouth" "beta wave measurement" @@ -32483,9 +32483,9 @@ "glyceronephosphate O-acyltransferase deficiency" "level of cyclin-dependent kinase 4 inhibitor B in blood serum" "obsolete_adactyly of hand" + "obsolete_integumental system" "polymerase chain reaction"@en "PCR" - "obsolete_integumental system" "obsolete_biceps femoris" "normocytic anemia" "ILSXISS16/TejJ" @@ -32611,8 +32611,8 @@ "2-3 toe syndactyly" "hematopoietic cell" "purine nucleotide biosynthetic process" - "obsolete_craniometadiaphyseal dysplasia, wormian bone type" "x-ray repair cross-complementing protein 6 measurement" + "obsolete_craniometadiaphyseal dysplasia, wormian bone type" "progressive supranuclear palsy-pure akinesia with gait freezing syndrome" "obsolete_canthal anomaly" "basal cell carcinoma" @@ -32626,9 +32626,9 @@ "catalepsy" "obsolete_generalized resistance to thyroid hormone" "glucose-1-phosphate measurement"@en + "Short stature - pituitary and cerebellar defects - small sella turcica" "Desulfotomaculum reducens MI-1" "polypeptide N-acetylgalactosaminyltransferase 2" - "Short stature - pituitary and cerebellar defects - small sella turcica" "level of poly [ADP-ribose] polymerase tankyrase-1 in blood serum" "white sponge nevus 1" "level of ADP-ribosylation factor GTPase-activating protein 2 in blood serum" @@ -32700,9 +32700,9 @@ "hydrocephalus, congenital, 5, susceptibility to" "N-oleoyltaurine measurement" "3,3',5-Triiodo-L-thyronine measurement" - "obsolete_Familial capillary hemangioma" "wood parenchyma" "Staphylococcus carnosus" + "obsolete_Familial capillary hemangioma" "pregnancy-specific beta-1-glycoprotein 3" "ectodermal dysplasia 7, hair/nail type" "obsolete_autosomal dominant spondylocostal dysostosis" @@ -32716,8 +32716,8 @@ "aggressive B-cell non-Hodgkin lymphoma" "Delayed puberty" "unit of molarity" - "oligocone trichromacy" "level of chloride intracellular channel protein 3 in blood serum" + "oligocone trichromacy" "level of interleukin-12 subunit beta in blood serum" "carcinoma of duodenum" "Pyrus communis" @@ -32798,8 +32798,8 @@ "NCI-H1155" "brachydactyly type B2" "coiled-coil domain-containing protein 126 measurement" - "BEN" "envoplakin measurement" + "BEN" "Bcl-2-modifying factor" "hippocampal volume" "obsolete_kidney (Homo sapiens)" @@ -32838,8 +32838,8 @@ "myeloid leukemia cell line" "level of NEDD8 protein in blood serum" "obsolete_autosomal recessive spastic paraplegia type 67" - "testicular hydrocele" "14q24.1q24.3 microdeletion syndrome" + "testicular hydrocele" "Undifferentiated Ovarian Carcinoma" "pharyngeal arch artery 5" "neurogenic bowel" @@ -32848,8 +32848,8 @@ "wet beriberi" "Muscle fiber actin filament accumulation" "obsolete major hypertriglyceridemia" - "riddelliine" "chromosome 16p13.3 duplication syndrome" + "riddelliine" "isolated anterior cervical hypertrichosis" "hereditary sensory and autonomic neuropathy type 1B" "obsolete_BY4741" @@ -32874,9 +32874,9 @@ "proteasome assembly chaperone 4" "obsolete_biomaterial factor" "level of putative caspase recruitment domain-containing protein 17P in blood serum" - "obsolete_ocular motor apraxia, Cogan type" "RNA polymerase II elongation factor ELL2" "level of isopentenyl-diphosphate Delta-isomerase 1 in blood serum" + "obsolete_ocular motor apraxia, Cogan type" "corrinoid adenosyltransferase MMAB" "4q21 microdeletion syndrome" "N-oleoyl taurine measurement" @@ -32941,8 +32941,8 @@ "NUGC-3" "obsolete hereditary intestinal polyposis" "level of integrin beta-2 in blood serum" - "N-acetylglycine" "malignant epithelial tumor of ovary" + "N-acetylglycine" "alpha-D-glucose" "level of ribosomal protein S6 kinase beta-2 in blood serum" "C-type lectin domain family 1 member B measurement" @@ -33035,8 +33035,8 @@ "interleukin 25 measurement" "pyroglutamylglutamine" "obsolete_distal trisomy 9q" - "2-docosahexaenoyl-GPE (22:6) measurement" "acute graft versus host disease" + "2-docosahexaenoyl-GPE (22:6) measurement" "obsolete_disorder of asparagine metabolism" "obsolete_partial androgen insensitivity syndrome" "hydroxymethylglutaryl-CoA lyase, mitochondrial" @@ -33065,21 +33065,21 @@ "X-08402 measurement" "Glaucoma - sleep apnea" "Bone Anteversion" + "response to smoking cessation agent" "xylosyl- and glucuronyltransferase LARGE1" "HCC0630" "dendritic cell" "paternal 20q13.2q13.3 microdeletion syndrome" "protein dpy-30" - "response to smoking cessation agent" + "Microcystic Renal Disease" "Geobacter sulfurreducens" "sulfotransferase 1C2" - "Microcystic Renal Disease" "phosphoenolpyruvate carboxykinase deficiency, cytosolic" "level of signal-transducing adaptor protein 1 in blood serum" "inborn carbohydrate metabolic disorder" "obsolete_maternally-inherited Leigh syndrome" - "protein C-ets-2 measurement" "hypophosphatemia" + "protein C-ets-2 measurement" "semaphorin-4F" "larynx verrucous carcinoma" "ankle brachial index" @@ -33150,10 +33150,10 @@ "obsolete_retroarticular" "cranial nerve neuropathy" "ACTH-independent macronodular adrenal hyperplasia 1" - "PLB985" + "deoxycytidine kinase measurement" "lysozyme C measurement" + "PLB985" "factor XIII deficiency" - "deoxycytidine kinase measurement" "obsolete_response to efavirenz" "Uterine Corpus Lipoleiomyoma" "level of fibromodulin in blood serum" @@ -33195,8 +33195,8 @@ "Charcot-Marie-Tooth disease X-linked recessive 3" "ADP-ribosylation factor-like protein 11" "Richieri Costa-da Silva syndrome" - "monopoietic cell" "CLN7 disease" + "monopoietic cell" "fumarylacetoacetase measurement" "Ren-Seq" "obsolete_neuropathy with hearing impairment" @@ -33378,8 +33378,8 @@ "triglycerides in small LDL measurement " "obsolete_partial trisomy/tetrasomy of the short arm of chromosome 12" "artemin measurement" - "Corpuscular Hemoglobin Concentration Distribution Width" "level of 60S acidic ribosomal protein P2 in blood serum" + "Corpuscular Hemoglobin Concentration Distribution Width" "Rhamphochromis sp. 'chilingali'" "decadienylcarnitine measurement" "high affinity nerve growth factor receptor measurement" @@ -33436,13 +33436,13 @@ "X-24949 measurement" "GM17222" "obsolete_insulin-resistance syndrome type A" - "level of interleukin-6 receptor subunit beta in blood serum" "lobe attachment" + "level of interleukin-6 receptor subunit beta in blood serum" "obsolete partial autosomal trisomy/tetrasomy" "obsolete_CNS brain hippocampus MMHCC" "GM17746" - "triacylglycerol 52:4" "transmembrane protein 59-like measurement" + "triacylglycerol 52:4" "liver lipoma" "neural rod" "level of alpha-2,8-sialyltransferase 8B in blood serum" @@ -33469,8 +33469,8 @@ "elongating embryo Ce" "uncharacterized protein C17orf67" "level of mitogen-activated protein kinase 6 in blood serum" - "urban-Rogers-Meyer syndrome" "acquired cutis laxa" + "urban-Rogers-Meyer syndrome" "sick sinus syndrome 3, susceptibility to" "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia" "DNA oxidative demethylase ALKBH2" @@ -33616,23 +33616,23 @@ "losartan" "D-Sucrose to 3-Indolepropionic acid ratio" "cholestasis, progressive familial intrahepatic, 12" - "Pyrus hybrid cultivar" "obsolete_methylmalonic acidemia with homocystinuria, type cblJ" + "Pyrus hybrid cultivar" + "Benign Ovarian Mixed Epithelial Tumor" "Hydrocinnamic acid measurement" "age of onset of cognitive disorder" "hormone-mediated signaling pathway" "Marfan and Marfan-related disorder" - "Benign Ovarian Mixed Epithelial Tumor" "RAC-alpha serine/threonine-protein kinase" "level of [F-actin]-monooxygenase MICAL1 in blood serum" "heating block" "Rare genetic male infertility" "obsolete_X-linked parkinsonism-spasticity syndrome" "ALG13-CDG" + "sugar consumption measurement" "level of 1-oleoyl-2-linoleoyl-sn-glycerol in blood" "afamin measurement" "Coprinopsis cinerea" - "sugar consumption measurement" "Chromosomal anomaly" "Ondine syndrome" "breast apocrine carcinoma" @@ -33680,8 +33680,8 @@ "Classical homocystinuria" "renal cell adenocarcinoma" "HCC2998" - "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency" "vulvar syringoma" + "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency" "nevus, epidermal" "glycosaminoglycan xylosylkinase" "SU-DHL-2" @@ -33721,15 +33721,15 @@ "venom gland" "obsolete_hair follicle" "Xeroderma pigmentosum variant" - "alpha-S1-casein measurement" "pneumonia" + "alpha-S1-casein measurement" "Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome" "binding site identification design" "pimelic acid measurement"@en "skin of body" "obsolete_horizontal gaze palsy with progressive scoliosis" - "level of Ras-related protein Rab-5C in blood serum" "sulfiredoxin-1 measurement" + "level of Ras-related protein Rab-5C in blood serum" "Cichorium intybus" "Beta-thalassemia associated with another hemoglobin anomaly" "obsolete_distal trisomy 10q" @@ -33805,8 +33805,8 @@ "level of adhesion G-protein coupled receptor G1 in blood serum" "obsolete_trisomy 1q" "lethal acantholytic epidermolysis bullosa" - "interferon regulatory factor 5" "Ras-related protein Rab-38" + "interferon regulatory factor 5" "obsolete_anterior lateral line nerve" "neurectoderm" "oleate 18:1n9 measurement" @@ -33824,9 +33824,9 @@ "triacylglycerol 50:0 measurement" "Reduced social responsiveness" "obsolete_neural keel" + "prostate lymphoma" "obsolete_partial duplication of the short arm of chromosome 11" "WAP four-disulfide core domain protein 13 measurement" - "prostate lymphoma" "clathrin heavy chain 1" "Staphylococcus aureus subsp. aureus MRSA252" "guanosine diphosphate measurement"@en @@ -33834,9 +33834,9 @@ "negative regulation of leukocyte activation" "Renal insufficiency" "level of alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase in blood serum" + "fatty acyl-CoA reductase defects" "guanylyl cyclase-activating protein 1" "Legionella longbeachae" - "fatty acyl-CoA reductase defects" "level of pituitary homeobox 2 in blood serum" "congenital amegakaryocytic thrombocytopenia 1" "level of beta-defensin 108B in blood serum" @@ -33888,8 +33888,8 @@ "male urethra" "attenuated Chédiak-Higashi syndrome" "GM17131" - "Bubble-Seq" "inactive pancreatic lipase-related protein 1 measurement" + "Bubble-Seq" "obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation" "heart transplant rejection" "benign monoclonal gammopathy" @@ -33899,9 +33899,9 @@ "Schwartz-Jampel syndrome" "ribulose 5-phosphate" "Arrhinia - choanal atresia - microphthalmia" + "dicofol measurement"@en "Stable-Seq" "ectodermal dysplasia-cutaneous syndactyly syndrome" - "dicofol measurement"@en "lysophosphatidylcholine 16:1" "cantharidin" "response to varenicline" @@ -33926,8 +33926,8 @@ "obsolete_extraocular muscle" "Taeniopygia guttata" "primary coenzyme Q10 deficiency 8" - "neoplasm, non-human animal" "Rhabdoid Meningioma" + "neoplasm, non-human animal" "Mitochondrial disease with hypertrophic cardiomyopathy" "Syndromic neurometabolic disease with non-X-linked intellectual disability" "palmitoleate 16:1n7 measurement" @@ -33935,8 +33935,8 @@ "Tax1-binding protein 3" "level of COMM domain-containing protein 10 in blood serum" "distal trisomy 4q" - "fenson measurement" "recorded follow-up status" + "fenson measurement" "heregulin B1" "arthrogryposis, Perthes disease, and upward gaze palsy" "level of vitrin in blood serum" @@ -33984,11 +33984,11 @@ "dizziness" "hearing loss, autosomal recessive" "3-hydroxy-3-methylglutaric acid" - "polypeptide N-acetylgalactosaminyltransferase 4" "obsolete_fatal familial insomnia" + "obsolete_utering smooth muscle cell" + "polypeptide N-acetylgalactosaminyltransferase 4" "level of troponin T, cardiac muscle in blood serum" "Williams syndrome" - "obsolete_utering smooth muscle cell" "pyridoxamine measurement"@en "familial primary hypomagnesemia" "severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion" @@ -34074,8 +34074,8 @@ "risk status" "millimolar" "RNU7-1-related type 1 interferonopathy" - "level of dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 in blood serum" "arylsulfatase A measurement" + "level of dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 in blood serum" "invasive mechanical ventilation" "costochondral joint" "cysteine--tRNA ligase, cytoplasmic" @@ -34113,10 +34113,10 @@ "complement C4-B" "McDonough syndrome" "level of synaptotagmin-4 in blood serum" + "immunoglobulin isotype switching measurement" "atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome" "Oral ulcer" "myoclonic epilepsy of Lafora 1" - "immunoglobulin isotype switching measurement" "long QT syndrome 12" "vacuum dryer" "Myopia" @@ -34200,10 +34200,10 @@ "alopecia, androgenetic, 1" "obsolete_essential fructosuria" "obsolete_non-syndromic esophageal malformation" - "RNA-DNA SPRITE" "H/ACA ribonucleoprotein complex subunit 2" "closed colony random bred strain" "obsolete_left ventricle" + "RNA-DNA SPRITE" "level of protein polybromo-1 in blood serum" "B- and T-cell mixed leukemia" "biopsy site" @@ -34357,9 +34357,9 @@ "obsolete_male infertility due to globozoospermia" "Short stature-optic atrophy-Pelger-Huët anomaly syndrome" "testicular gonadoblastoma" + "HCC1195" "Moniliophthora perniciosa" "level of anthrax toxin receptor 1 in blood serum" - "HCC1195" "obsolete_inferior colliculus" "obsolete_cockayne syndrome" "obsolete_spinal muscular atrophy with respiratory distress" @@ -34374,27 +34374,27 @@ "subiculum volume" "hydrolysis collection protocol" "Vibrio vulnificus" - "Generalized muscle hypertrophy" "insulin secretion" + "Generalized muscle hypertrophy" "Proximal placement of thumb" "obsolete_hereditary sensory and autonomic neuropathy type 1" "pregnenediol sulfate (C21H34O5S) measurement" - "tracheobronchial amyloidosis" "collagen alpha-1(I) chain measurement" - "ceroid-lipofuscinosis neuronal protein 5 measurement" - "hippocampal atrophy" + "tracheobronchial amyloidosis" "molar mass unit" "level of caspase recruitment domain-containing protein 9 in blood serum" - "acrylamide" + "hippocampal atrophy" "obsolete rare eye disease due to a differentiation anomaly" "level of immediate early response gene 2 protein in blood serum" + "acrylamide" + "ceroid-lipofuscinosis neuronal protein 5 measurement" "deafness" "(S)-warfarin" "cobalamin trafficking protein CblD" "palmoplantar keratoderma-esophageal carcinoma syndrome" "alphapapillomavirus 9 virus seropositivity" - "Canton-S" "cryptococcal meningitis" + "Canton-S" "JHH-2" "level of tRNA 2'-phosphotransferase 1 in blood serum" "spinocerebellar ataxia type 10" @@ -34407,9 +34407,9 @@ "obsolete_ring chromosome 5" "plant developmental tissue" "triggering receptor expressed on myeloid cells 1" - "X-08988 measurement" "qualitative or quantitative defects of desmin" "activator of apoptosis harakiri" + "X-08988 measurement" "adrenogenital syndrome" "RK-13" "obsolete_forelimb" @@ -34488,16 +34488,16 @@ "cholesterol to total lipids in small HDL percentage " "obsolete_granular corneal dystrophy type I" "level of adhesion G-protein coupled receptor G2 in blood serum" + "Non-epidermolytic palmoplantar keratoderma" "level of DNA polymerase eta in blood serum" "paraneoplastic syndrome" "microcephaly-microcornea syndrome, Seemanova type" "Frias syndrome" - "Non-epidermolytic palmoplantar keratoderma" "desmoglein-4" "obsolete_hereditary hypotrichosis with recurrent skin vesicles" "obsolete_spondyloepimetaphyseal dysplasia, aggrecan type" - "RD" "parathyroid gland" + "RD" "macrophage inflammatory protein 1a measurement" "virologic response measurement" "level of fructose-2,6-bisphosphatase TIGAR in blood serum" @@ -34526,10 +34526,10 @@ "obsolete_sickle cell anemia" "fatty liver disease" "collagen alpha-1(XV) chain measurement" - "3-Indolepropionic acid to Taurocholic acid sodium salt hydrate ratio" "aneurysm" "caudate nucleus volume" "guanylyl cyclase-activating protein 2" + "3-Indolepropionic acid to Taurocholic acid sodium salt hydrate ratio" "level of retinoblastoma-like protein 1 in blood serum" "juvenile absence epilepsy" "chorionic villus" @@ -34544,8 +34544,8 @@ "astrocyte" "GM17136" "10x Xenium"@en - "beriberi" "benign neoplasm of parathyroid gland" + "beriberi" "ectodysplasin-a, secreted form measurement" "Rare odontal or periodontal disorder" "prolactin producing pituitary tumor" @@ -34554,11 +34554,11 @@ "pyruvate carboxylase, mitochondrial" "Cerebro-facio-articular syndrome" "level of bone morphogenetic protein 4 in blood serum" - "myxedema" "glucuronide of C10H18O2 (7) measurement" "salmeterol" "CHRF-288"@en "CS57586" + "myxedema" "proteasome subunit alpha type-3" "aminomethyltransferase, mitochondrial" "combined oxidative phosphorylation defect type 14" @@ -34658,9 +34658,9 @@ "ribonucleotide biosynthetic process" "obsolete_acheiria, unilateral" "leptomyelolipoma" - "obsolete_xanthinuria type II" "a disintegrin and metalloproteinase with thrombospondin motifs 6 measurement" "craniosynostosis-cataract syndrome" + "obsolete_xanthinuria type II" "beta-1,4-galactosyltransferase 3 measurement" "level of carboxypeptidase N catalytic chain in blood serum" "Staphylococcus aureus subsp. aureus MSSA476" @@ -34675,8 +34675,8 @@ "lysophosphatidylcholine 22:0 measurement" "valine metabolism disease" "MALT lymphoma" - "Apathy" "level of beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase in blood serum" + "Apathy" "level of F-BAR and double SH3 domains protein 1 in blood serum" "DnaJ homolog subfamily A member 4 measurement" "Epstein-Barr virus-related tumor" @@ -34686,10 +34686,10 @@ "sensory perception of taste" "CCD-29Lu" "arteriovenous malformations of the brain" - "obsolete_lymphangioleiomyomatosis" "keratoconjunctivitis" "ILSXISS23/TejJ" "microcephalic primordial dwarfism due to ZNF335 deficiency" + "obsolete_lymphangioleiomyomatosis" "regulation of system process" "congenital pseudoarthrosis of clavicle" "albinism-hearing loss syndrome" @@ -34730,8 +34730,8 @@ "Stuve-Wiedemann syndrome 2" "glioma susceptibility 1" "dexamethasone" - "obsolete_acute myeloid leukemia with CEBPA somatic mutations" "obsolete_beta-ureidopropionase deficiency" + "obsolete_acute myeloid leukemia with CEBPA somatic mutations" "descending colon" "PE RAD-Seq" "anxiety disorder measurement" @@ -34792,8 +34792,8 @@ "esophageal disease" "interleukin-26" "obsolete_MMHCC part" - "level of kell blood group glycoprotein in blood serum" "antitragus size" + "level of kell blood group glycoprotein in blood serum" "obsolete_olfactory lobe" "CCR4-NOT transcription complex subunit 1" "ophthalmoplegia-intellectual disability-lingua scrotalis syndrome" @@ -34839,8 +34839,8 @@ "obsolete_telecanthus" "early pro-B cell" "Systemic lupus erythematosus" - "obsolete_pleomorphic breast carcinoma" "PIK3CA/PIK3R1 measurement" + "obsolete_pleomorphic breast carcinoma" "Borderline Ovarian Brenner Tumor" "developmental and epileptic encephalopathy, 66" "tacrine" @@ -35003,10 +35003,10 @@ "hydroxyzine" "BET1-like protein" "level of neurofilament light polypeptide in blood serum" - "Athabaskan brainstem dysgenesis syndrome" "lactoferrin measurement" "autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome" "gastric inhibitory polypeptide" + "Athabaskan brainstem dysgenesis syndrome" "level of small nuclear ribonucleoprotein G in blood serum" "level of KxDL motif-containing protein 1 in blood serum" "amygdala volume change measurement"@en @@ -35019,8 +35019,8 @@ "cinidon ethyl" "obsolete_kidney (Pongon pygmaeus)" "DPAGT1-congenital disorder of glycosylation" - "myeloid cell surface antigen CD33 measurement" "cholesteryl icosatetraenoate" + "myeloid cell surface antigen CD33 measurement" "susceptibility to measles measurement" "level of anthrax toxin receptor 2 in blood serum" "large ribosomal subunit protein uL2m" @@ -35045,9 +35045,9 @@ "keratosis palmaris et plantaris-clinodactyly syndrome" "thymidine kinase 2, mitochondrial" "Na_C34:1 DAG_or_TAG_fragment measurement" + "transforming growth factor beta-3 measurement" "JHH-4" "level of TSC22 domain family protein 3 in blood serum" - "transforming growth factor beta-3 measurement" "Increased intestinal transit time" "obsolete_taurodontism" "granulosa cell layer" @@ -35071,8 +35071,8 @@ "AMSH-like protease measurement" "Loeys-Dietz syndrome" "brachydactyly-mesomelia-intellectual disability-heart defects syndrome" - "obsolete inherited renal cancer-predisposing syndrome" "erythematosquamous dermatosis" + "obsolete inherited renal cancer-predisposing syndrome" "cystic fibrosis-related diabetes"@en "ropporin-1B" "Mus musculus domesticus" @@ -35136,8 +35136,8 @@ "humeral agenesis/hypoplasia, bilateral" "brain glioma" "Indole-5-carboxylic acid measurement" - "Perrault syndrome" "Benign Ovarian Neoplasm" + "Perrault syndrome" "pseudopseudohypoparathyroidism" "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive" "Intellectual disability - myopathy - short stature - endocrine defect" @@ -35165,19 +35165,19 @@ "level of 1-palmitoyl-2-arachidonoyl-sn-glycerol in blood" "mixed liposarcoma" "immunoglobulin heavy constant gamma 2" - "obsolete_isolated punctate palmoplantar keratoderma" "level of DNA polymerase iota in blood serum" "nucleoside monophosphate biosynthetic process" "precancerous condition" + "obsolete_isolated punctate palmoplantar keratoderma" "Jaundice" "Agrobacterium tumefaciens" "Abnormal cerebrospinal fluid morphology" "Hyperlipoproteinemia" "obsolete_embryonic esophageal ganglion" "benign neoplasm of cecum" - "macrophage inflammatory protein 1b measurement" "childhood epithelioid sarcoma" "RDES" + "macrophage inflammatory protein 1b measurement" "methylamine metabolic process" "immunodeficiency 45" "familial acne inversa" @@ -35270,27 +35270,27 @@ "Carey-Fineman-Ziter syndrome" "potassium bromate" "Myelofibrosis" - "arthrogryposis, distal, type 2B3" "obsolete_renal tubular dysgenesis of genetic origin" + "arthrogryposis, distal, type 2B3" + "Absent tibia - polydactyly - arachnoid cyst" "alive with disease" "plastin-1 measurement" "level of myeloid-derived growth factor in blood serum" "size fractionation" "Hsp70-binding protein 1" "Leigh syndrome with cardiomyopathy" - "Absent tibia - polydactyly - arachnoid cyst" "total fat intake measurement" "HCC1263" - "pectoral fin skeleton" "myopathy, epilepsy, and progressive cerebral atrophy" + "pectoral fin skeleton" "carotid artery disease" "vitreous body disease" "multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3" "sulfotransferase 4A1" "2',3'-cyclic-nucleotide 3'-phosphodiesterase" "cyclic AMP-dependent transcription factor ATF-6 beta" - "remnant cholesterol change measurement" "Renal cortical hyperechogenicity" + "remnant cholesterol change measurement" "level of StAR-related lipid transfer protein 5 in blood serum" "caudate-putamen" "hereditary renal hypouricemia" @@ -35315,15 +35315,15 @@ "guanylate cyclase activator 2B" "obsolete syndromic keratoconus" "gamma-carboxyglutamate measurement" - "level of programmed cell death protein 6 in blood serum" + "obsolete_distal trisomy 6q" "obsolete_neonatal glycine encephalopathy" + "level of programmed cell death protein 6 in blood serum" + "X-12217 measurement" "MDAMB361" "level of Axin interactor, dorsalization-associated protein in blood serum" "level of scavenger receptor cysteine-rich domain-containing group B protein in blood serum" "loneliness measurement" - "X-12217 measurement" "breast adenocarcinoma" - "obsolete_distal trisomy 6q" "peptide chain release factor 1-like, mitochondrial" "obsolete_early-onset Lafora body disease" "cholesterol to total lipids in small LDL percentage " @@ -35349,8 +35349,8 @@ "Methicillin-Resistant Staphylococcus Aureus Infection" "1-arachidonoyl-GPI (20:4) measurement" "triacylglycerol 51:1 measurement" - "SHOX-related short stature" "acid ceramidase measurement" + "SHOX-related short stature" "Citrus trifoliata" "Horseshoe kidney" "amino acid metabolism disease" @@ -35368,9 +35368,9 @@ "trem-like transcript 2 protein" "level of Ras-related and estrogen-regulated growth inhibitor in blood serum" "parental longevity" - "obsolete_syndromic intestinal malformation" "oligodendrocyte" "magnesium transporter NIPA4 measurement" + "obsolete_syndromic intestinal malformation" "BD-215" "ddMDA" "inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 measurement" @@ -35433,8 +35433,8 @@ "obsolete_Autosomal dominant Charcot-Marie-Tooth disease type 2P" "Abnormal bleeding" "obsolete_ventral epidermis primordium" - "streptococcal pharyngitis" "AT-rich interactive domain-containing protein 3A measurement" + "streptococcal pharyngitis" "De Quervain disease" "SNU-719" "beta-defensin 103 measurement" @@ -35458,8 +35458,8 @@ "Small face" "obsolete_Stern-Lubinsky-Durrie syndrome" "adult type testicular granulosa cell tumor" - "rhombomere" "level of probable carboxypeptidase X1 in blood serum" + "rhombomere" "level of peroxiredoxin-4 in blood serum" "Penicillium islandicum" "Tyrosinemia type 2" @@ -35507,11 +35507,11 @@ "Eosinophilia-Myalgia Syndrome" "out at first protein homolog measurement" "dysbindin" - "obsolete_Lisch epithelial corneal dystrophy" "Muscle weakness" + "obsolete_Lisch epithelial corneal dystrophy" "Alpers syndrome" - "set1/Ash2 histone methyltransferase complex subunit ASH2 measurement" "pterin-4 alpha-carbinolamine dehydratase 1 deficiency" + "set1/Ash2 histone methyltransferase complex subunit ASH2 measurement" "obsolete_nanophthalmia" "milligram per deciliter" "childhood brain stem neoplasm" @@ -35804,8 +35804,8 @@ "obsolete_TARP syndrome" "level of ubiquitin domain-containing protein 2 in blood serum" "X-11850 measurement" - "obsolete_nonepidermolytic palmoplantar keratoderma" "obsolete_Inositol measurement" + "obsolete_nonepidermolytic palmoplantar keratoderma" "disorder of folate metabolism and transport" "Nephrogenic rest" "pulmonary fibrosis and/or bone marrow failure, telomere-related" @@ -35896,9 +35896,9 @@ "level of serine/threonine-protein kinase 4 in blood serum" "obsolete_autosomal recessive ataxia due to ubiquinone deficiency" "beta-1,4 N-acetylgalactosaminyltransferase 1" - "Autosomal dominant optic atrophy and cataract" "EFM-192C" "probable carboxypeptidase X1" + "Autosomal dominant optic atrophy and cataract" "intermediate monocyte" "obsolete_14q11.2 microduplication syndrome" "Autosomal recessive spastic paraplegia type 44" @@ -35942,9 +35942,9 @@ "L-6" "invertebrate limb" "Brown-Pearce carcinoma" - "erosive tooth wear measurement" "oppositional defiant disorder measurement" "HCC1319" + "erosive tooth wear measurement" "vitreous prolapse" "Cerebral arteriovenous malformation" "obsolete_mosaic trisomy 2" @@ -35962,13 +35962,13 @@ "experimental scientist" "level of protein-lysine N-methyltransferase EEF2KMT in blood serum" "obsolete_syndactyly type 1" - "Cataract - intellectual disability - anal atresia - urinary defects" "level of programmed cell death 6-interacting protein in blood serum" "constitutional neutropenia" "upper respiratory tract" "level of fucose in blood" - "obsolete_response to rifampicin" + "Cataract - intellectual disability - anal atresia - urinary defects" "level of allograft inflammatory factor 1-like in blood serum" + "obsolete_response to rifampicin" "obsolete_snRNA-seq" "ataxia-tapetoretinal degeneration syndrome" "death domain-containing protein CRADD" @@ -35997,8 +35997,8 @@ "Vicia narbonensis" "mucosa-associated lymphoid tissue macrophage" "obsolete_acheiria, bilateral" - "hyperphalangy, unilateral" "obsolete_mitochondrial protein import disorder" + "hyperphalangy, unilateral" "synaptotagmin-6" "tetrasomy" "catalase measurement" @@ -36028,10 +36028,10 @@ "brush cell" "cholesterol to total lipids in small VLDL percentage " "obsolete_lattice corneal dystrophy type I" - "obsolete_odontohypophosphatasia" "metenamine measurement" "level of resistin-like beta in blood serum" "dietary niacin intake measurement" + "obsolete_odontohypophosphatasia" "Keratosis follicularis - dwarfism - cerebral atrophy" "neuronopathy, distal hereditary motor, type 5B" "silver-russell syndrome 4" @@ -36080,15 +36080,15 @@ "obsolete_tibio-fibular synostosis" "language measurement" "microglial cell" - "bladder calculus" "Schimke immuno-osseous dysplasia" "MM200" "EpiRADSeq" "level of histone-lysine N-methyltransferase EZH2 in blood serum" + "bladder calculus" "inositol monophosphatase 3 measurement" - "blood tin measurement"@en "ectonucleoside triphosphate diphosphohydrolase 3 measurement" "level of spermatogenesis-associated protein 22 in blood serum" + "blood tin measurement"@en "obsolete hyperlipoproteinemia type IV" "obsolete_bone MMHCC" "forelimb" @@ -36128,8 +36128,8 @@ "homocystinuria without methylmalonic aciduria" "level of gamma-aminobutyric acid receptor-associated protein-like 1 in blood serum" "arachidonate 15-lipoxygenase B measurement" - "retinitis pigmentosa 9 protein" "stearidonate 18:4n3 measurement" + "retinitis pigmentosa 9 protein" "HT1197" "telencephalon" "skeleton" @@ -36226,8 +36226,8 @@ "distal renal artery" "obsolete_Hypotonia-speech impairment-severe cognitive delay syndrome" "laminin alpha 2-related dystrophy" - "ethion measurement"@en "intellectual developmental disorder with speech delay, autism and dysmorphic facies" + "ethion measurement"@en "obsolete reproduction" "dual specificity protein phosphatase 15" "nociceptin" @@ -36287,12 +36287,12 @@ "sampling time" "chromosome Xp21 deletion syndrome" "picomolar" - "euryblepharon" "mitochondrial substrate carrier disorder" + "euryblepharon" "paraneoplastic cutaneous syndrome" "level of ATP synthase-coupling factor 6, mitochondrial in blood serum" - "GM17181" "urethritis" + "GM17181" "extracellular organelle" "benign neoplasm of spinal cord" "fallopian tube endometrioid adenocarcinoma" @@ -36308,10 +36308,10 @@ "obsolete_Fryns syndrome" "heparan sulfate glucosamine 3-O-sulfotransferase 5" "Charcot-Marie-Tooth disease, demyelinating, type 1J" - "Cestode Infections" "S-180" "Bartholin gland adenomyoma" "urinary sodium measurement"@en + "Cestode Infections" "obsolete_hydrolethalus syndrome" "vitamin D metabolic process" "drug-induced autoimmune hemolytic anemia" @@ -36349,8 +36349,8 @@ "level of synaptotagmin-7 in blood serum" "level of Ser-Leu in blood" "ubiquitin carboxyl-terminal hydrolase 1" - "obsolete_familial infantile gigantism" "X-24980 measurement" + "obsolete_familial infantile gigantism" "Borderline personality disorder" "Haemophilus ducreyi 35000HP" "level of leukocyte-associated immunoglobulin-like receptor 2 in blood serum" @@ -36362,12 +36362,12 @@ "UPF0577 protein KIAA1324 measurement" "rofecoxib" "muscular dystrophy-dystroglycanopathy, type A" - "Salmonella enterica subsp. enterica serovar Typhi str. CT18" "obsolete_Primary familial polycythemia" + "Salmonella enterica subsp. enterica serovar Typhi str. CT18" "neuropilin-1 measurement" "Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3" - "obsolete_GM1 gangliosidosis type 1" "level of glycine N-acyltransferase-like protein 2 in blood serum" + "obsolete_GM1 gangliosidosis type 1" "hypomagnesemia, seizures, and intellectual disability" "congenital sucrase-isomaltase deficiency with minimal starch tolerance" "HOS" @@ -36431,9 +36431,9 @@ "Deafness - intellectual disability, Martin-Probst type" "phosphatidylcholine O-40:6" "Lactococcus lactis subsp. cremoris" + "obsolete_X-linked intellectual disability with isolated growth hormone deficiency" "obsolete_generalized isolated dystonia" "Bohring-Opitz syndrome" - "obsolete_X-linked intellectual disability with isolated growth hormone deficiency" "response to calcineurin inhibitor" "semaphorin-3B" "scyllo-inositol measurement" @@ -36471,8 +36471,8 @@ "small intestinal sarcoma" "GM14468" "beta globulin measurement"@en - "Cleft palate - large ears - small head" "gamma-glutamyl-2-aminobutyrate measurement" + "Cleft palate - large ears - small head" "idiopathic bronchiectasis" "X-23590 measurement" "acute monocytic leukemia" @@ -36533,8 +36533,8 @@ "all-trans-retinoic acid" "conidiophore" "atom" - "Pancreatic hypoplasia - diabetes - congenital heart disease" "level of interferon-inducible double-stranded RNA-dependent protein kinase activator A in blood serum" + "Pancreatic hypoplasia - diabetes - congenital heart disease" "C-X-C motif chemokine 13 measurement" "nuclear RNA" "transcription initiation factor IIE subunit beta" @@ -36632,12 +36632,12 @@ "level of nicotinamide riboside kinase 2 in blood serum" "signet ring cell carcinoma" "obsolete_Familial temporal epilepsy" - "programmed cell death protein 1 measurement" "Toe clinodactyly" + "programmed cell death protein 1 measurement" "regulation of gonadotropin secretion" "obsolete_CINCA syndrome" - "obsolete_8q22.1 microdeletion syndrome" "CD11b-positive, CD27-positive natural killer cell, mouse" + "obsolete_8q22.1 microdeletion syndrome" "L-Histidine to 3-Indolepropionic acid ratio" "hypothyroidism, congenital, nongoitrous" "chondroadherin measurement" @@ -36691,9 +36691,9 @@ "obsolete primary immunodeficiency due to a genetic defect in innate immunity" "oligomycin" "obsolete_X-linked severe congenital neutropenia" + "Partial deletion of the short arm of chromosome 18" "susceptibility to rubella infection measurement" "Loss of voice" - "Partial deletion of the short arm of chromosome 18" "developmental and epileptic encephalopathy, 29" "obsolete_tricho-dento-osseous syndrome" "autosomal recessive nonsyndromic hearing loss 1B" @@ -36709,19 +36709,19 @@ "mitotic spindle assembly checkpoint protein MAD1" "enrichment of methylated DNA" "obsolete_familial clubfoot due to 17q23.1q23.2 microduplication" + "obsolete_X-linked mendelian susceptibility to mycobacterial diseases" "Brown-Sequard Syndrome" "HCC1482" - "obsolete_X-linked mendelian susceptibility to mycobacterial diseases" - "tubulointerstitial kidney disease, autosomal dominant, 2" "vitreous hemorrhage" + "tubulointerstitial kidney disease, autosomal dominant, 2" "craniolenticulosutural dysplasia" "response to simvastatin" "CD71-negative, GlyA-positive orthochromatic erythroblast" "Colorectal Gastrointestinal Stromal Tumor" "glomerular capsule" + "haploid deletion library" "level of statherin in blood serum" "inborn disorder of neurotransmitter metabolism and transport" - "haploid deletion library" "split hand-foot malformation" "premature birth" "obsolete_desmin-related myopathy with Mallory body-like inclusions" @@ -36758,8 +36758,8 @@ "hypocotyl emergence stage" "disorder of acid-base balance" "obsolete_mandibuloacral dysplasia" - "2-oleoyl-sn-glycero-3-phosphocholine" "glycolithocholate sulfate measurement" + "2-oleoyl-sn-glycero-3-phosphocholine" "triacylglycerol 53:2 measurement" "6-deoxocastasterone" "liver neoplasm" @@ -36819,9 +36819,9 @@ "neutrophil count" "scrotum squamous cell carcinoma" "epidermolysis bullosa simplex 1B, generalized intermediate" - "obsolete_maternal uniparental disomy of chromosome 4" "obsolete_polydactyly" "protein GPR107 measurement" + "obsolete_maternal uniparental disomy of chromosome 4" "isolated scaphocephaly" "level of spondin-2 in blood serum" "natural cytotoxicity triggering receptor 2 measurement" @@ -36834,9 +36834,9 @@ "adult spinal cord glioblastoma" "level of coagulation factor XI in blood serum" "U6 snRNA-associated Sm-like protein LSm1" - "level of ribosome biogenesis protein SPATA5 in blood serum" "ovarian clear cell adenocarcinoma" "blood strontium measurement"@en + "level of ribosome biogenesis protein SPATA5 in blood serum" "hyperlipoproteinemia type V" "hindlimb" "Neisseria meningitidis MC58" @@ -36859,9 +36859,9 @@ "obsolete_central brain primordium" "CS57595" "ubiquitin D" + "Autosomal recessive spastic paraplegia type 45" "G-361" "level of activity-regulated cytoskeleton-associated protein in blood serum" - "Autosomal recessive spastic paraplegia type 45" "latent syphilis" "level of phospholipase A1 member A in blood serum" "level of testis-expressed protein 29 in blood serum" @@ -37037,9 +37037,9 @@ "autoimmune pulmonary alveolar proteinosis" "abdominal aortic artery calcification" "porphyria" + "obsolete_laminopathy type Decaudain-Vigouroux" "beta-defensin 107 measurement" "pediatric osteosarcoma" - "obsolete_laminopathy type Decaudain-Vigouroux" "methylmercuric dicyanamide measurement" "anti-Kaposi's sarcoma-associated herpesvirus antibody measurement"@en "obsolete_pelvic fin" @@ -37126,15 +37126,15 @@ "sebaceous of Jadassohn nevus" "level of POU domain class 2-associating factor 1 in blood serum" "Osteochondrodysplatic nanism - deafness - retinitis pigmentosa" - "SUM225CWN" "anogenital venereal wart" + "SUM225CWN" "benign neoplasm of nasal cavity" "sterile alpha motif domain-containing protein 12" "cortical thymic epithelial cell" "Leishmania tarentolae" + "obsolete_3-methylglutaconic aciduria type 1" "propyl 4-hydroxybenzoate sulfate measurement" "CD4-negative, CD8-negative type I NK T cell" - "obsolete_3-methylglutaconic aciduria type 1" "cell cycle progression protein 1" "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 measurement" "lateral root" @@ -37148,9 +37148,9 @@ "1-oleoyl-GPI (18:1) measurement" "triacylglycerol 54:2 measurement"@en "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset" + "Autosomal recessive spastic paraplegia type 48" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2Q" "liver fibrosarcoma" - "Autosomal recessive spastic paraplegia type 48" "level of DNA (cytosine-5)-methyltransferase 3-like in blood serum" "level of prostaglandin-H2 D-isomerase in blood serum" "fumarylacetoacetate hydrolase domain-containing protein 2A" @@ -37289,8 +37289,8 @@ "ciliary neurotrophic factor measurement" "mesodermal cell" "hexadecanoate" - "extracutaneous mastocytoma" "level of CCAAT/enhancer-binding protein epsilon in blood serum" + "extracutaneous mastocytoma" "interleukin-17C" "protein BEX2" "obsolete_primary short bowel syndrome" @@ -37336,10 +37336,10 @@ "lysophosphatidylcholine 17:0" "Velopharyngeal insufficiency" "unique cartilage matrix-associated protein" + "programmed cell death protein 5 measurement" "epileptic encephalopathy, infantile or early childhood, 1" "GM17218" "cadmium dichloride" - "programmed cell death protein 5 measurement" "fluid shear stress"@en "Male infertility due to gonadal dysgenesis" "lymphatic vessel neoplasm" @@ -37368,10 +37368,10 @@ "level of annexin A13 in blood serum" "GM2 gangliosidosis" "aldehyde dehydrogenase, dimeric NADP-preferring measurement" - "apolipoprotein C measurement"@en "periosteum" "acute synovitis" "Tomato ringspot virus" + "apolipoprotein C measurement"@en "chromosome 18q deletion syndrome" "chloromethiuron measurement" "4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate" @@ -37433,8 +37433,8 @@ "level of prolactin-releasing peptide in blood serum" "interleukin-19 (Homo sapiens)" "obsolete_autosomal recessive lower motor neuron disease with childhood onset" - "level of probable E3 ubiquitin-protein ligase TRIML1 in blood serum" "obsolete_partial deletion of the long arm of chromosome 7" + "level of probable E3 ubiquitin-protein ligase TRIML1 in blood serum" "Inherited congenital spastic tetraplegia" "childhood adrenal gland pheochromocytoma" "obsolete_Ehlers-Danlos syndrome, kyphoscoliotic and deafness type" @@ -37492,14 +37492,14 @@ "epidermolysis bullosa, junctional 2A, intermediate" "sensory perception of pain" "PARS" - "EVSA-T" "alive at endpoint" + "EVSA-T" "glycogen storage disease VII" "Autosomal dominant medullary cystic kidney disease with hyperuricemia" "aorta endothelium" "obsolete_Wi38" - "superoxide dismutase [Mn], mitochondrial measurement" "obsolete_qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -" + "superoxide dismutase [Mn], mitochondrial measurement" "ubiquitin thioesterase OTUB2" "obsolete_46,XY ovotesticular disorder of sex development" "zinc finger protein 10" @@ -37599,11 +37599,11 @@ "level of Rho guanine nucleotide exchange factor 2 in blood serum" "Broad forehead" "eye hemorrhage" - "acyl-coenzyme A thioesterase MBLAC2" "ATC Code D Dermatologicals" + "acyl-coenzyme A thioesterase MBLAC2" + "LIPE-related familial partial lipodystrophy" "central nervous system primitive neuroectodermal neoplasm" "nephron tubule" - "LIPE-related familial partial lipodystrophy" "siRNA library" "level of transcription factor JunD in blood serum" "delta/notch like EGF Repeat Containing protein measurement" @@ -37669,24 +37669,24 @@ "pyloric stenosis, infantile hypertrophic, 1" "autosomal recessive spastic paraplegia type 68" "stomach diverticulum" - "MDAMB436" "1-(1-enyl-stearoyl)-2-docosahexaenoyl-GPC (P-18:0/22:6) measurement" + "MDAMB436" + "congenital myasthenic syndromes with glycosylation defect" "6-pyruvoyl tetrahydrobiopterin synthase" "assay by molecule" - "congenital myasthenic syndromes with glycosylation defect" "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome" "obsolete_helicoid peripapillary chorioretinal degeneration" "Cowden syndrome 5" "vulvar trichoepithelioma" "mg(14:0/0:0/0:0) measurement" - "basal cell carcinoma, susceptibility to" "Ascaridida infectious disease" + "basal cell carcinoma, susceptibility to" "level of neuronal regeneration-related protein in blood serum" "level of E3 ubiquitin-protein ligase rififylin in blood serum" "thioredoxin domain-containing protein 3" "PLC/PRF/5" - "chemokine-like protein TAFA-3" "obsolete_autosomal dominant rhegmatogenous retinal detachment" + "chemokine-like protein TAFA-3" "homer protein homolog 3" "micropapillary urothelial carcinoma" "obsolete_autosomal recessive spastic paraplegia type 70" @@ -37825,12 +37825,12 @@ "myofibrillar myopathy 5" "Fibrolamellar Carcinoma" "obsolete midline interhemispheric variant of holoprosencephaly" + "Silver-Russell syndrome due to imprinting defect of 11p15" "disorder of pilosebaceous unit" "umbelliferone sulfate measurement" "1-methylnicotinamide" "(5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol" "E3 ubiquitin-protein ligase RBBP6" - "Silver-Russell syndrome due to imprinting defect of 11p15" "gonorrhea" "gastric neuroendocrine neoplasm" "LAMB2-related infantile-onset nephrotic syndrome" @@ -37843,9 +37843,9 @@ "level of glutathione-requiring prostaglandin D synthase in blood serum" "leukocyte" "Chondrodysplasia - disorder of sex development" + "Borderline Ovarian Serous Tumor" "intellectual disability-polydactyly-uncombable hair syndrome" "TERF1-interacting nuclear factor 2" - "Borderline Ovarian Serous Tumor" "leaf vascular tissue" "obsolete_renal branch of vagus nerve" "X-11247 measurement" @@ -37875,9 +37875,9 @@ "obsolete_oculocerebral hypopigmentation syndrome, Cross type" "v-set and immunoglobulin domain-containing protein 2 measurement" "synovium cancer" - "LCL1" "gamma-soluble NSF attachment protein" "GM06993" + "LCL1" "taurocholate measurement"@en "immunodeficiency 14b, autosomal recessive" "level of biogenesis of lysosome-related organelles complex 1 subunit 1 in blood serum" @@ -37904,9 +37904,9 @@ "benign neoplasm of epicardium" "extragonadal seminoma" "skin cancer" - "Cleft palate - short stature - vertebral anomalies" "milk allergic reaction" "cyclo(leu-pro) measurement" + "Cleft palate - short stature - vertebral anomalies" "Kearns-Sayre syndrome" "obsolete_male infertility with azoospermia or oligozoospermia due to single gene mutation" "sentrin-specific protease 7" @@ -37995,12 +37995,12 @@ "level of CCAAT/enhancer-binding protein gamma in blood serum" "MT10430" "late-onset Parkinson disease" - "ciliary body disorder" "1-palmitoleoyl-GPI (16:1) measurement" + "ciliary body disorder" "HIV-associated nephropathy" + "trait in response to stavudine" "oculocutaneous albinism type 6" "partial duplication of the long arm of chromosome X" - "trait in response to stavudine" "obsolete_arm" "Schwann cell" "level of small vasohibin-binding protein in blood serum" @@ -38052,8 +38052,8 @@ "semaphorin-3C measurement" "mediator of RNA polymerase II transcription subunit 10" "carcinoma in situ of extrahepatic bile duct" - "CORL23" "CS57619" + "CORL23" "chloride intracellular channel protein 3" "chronic rapidly progressive glomerulonephritis" "infectious posterior uveitis" @@ -38123,9 +38123,9 @@ "obsolete_prostate-specific antigen measurement" "HORMA domain-containing protein 2" "pyelitis" + "Multiple renal cysts" "obsolete inherited skin tumor" "tooth agenesis, selective, 10" - "Multiple renal cysts" "uterine polyp" "risk factor" "protein kinase C and casein kinase substrate in neurons protein 2" @@ -38142,8 +38142,8 @@ "icosapentaenoic acid" "taurodontism" "obsolete_lymphoproliferative syndrome" - "leptin" "thromboangiitis obliterans" + "leptin" "population growth assay" "total particulate matter per liter" "radial hemimelia, bilateral" @@ -38170,13 +38170,13 @@ "obsolete_descending octaval nucleus" "15-methylpalmitate measurement" "3-Indolepropionic acid to S-(5-Adenosy) -L-homocysteine ratio" + "Pulmonary arterial hypertension associated with congenital heart disease" "familial osteosclerosis" "acetate" "Pericardial constriction" "tooth agenesis, selective, 2" "obsolete_American" "thoracolaryngopelvic dysplasia" - "Pulmonary arterial hypertension associated with congenital heart disease" "distal trisomy 17q" "Systemic autoinflammation" "Joubert syndrome 23" @@ -38237,8 +38237,8 @@ "Autosomal recessive systemic lupus erythematosus" "benign reproductive system neoplasm" "level of perilipin-3 in blood serum" - "postaxial polydactyly type B" "blood vanadium measurement"@en + "postaxial polydactyly type B" "pancreatic adenocarcinoma" "obsolete_9p13 microdeletion syndrome" "level of 39S ribosomal protein L52, mitochondrial in blood serum" @@ -38292,8 +38292,8 @@ "alive with progressive disease" "Manduca sexta" "Lennox-Gastaut syndrome" - "delta-CEHC measurement" "MAD2L1-binding protein" + "delta-CEHC measurement" "obsolete excretory apparatus of the lacrimal system anomaly" "obsolete_Alzheimer's disease" "level of Rho guanine nucleotide exchange factor 7 in blood serum" @@ -38318,12 +38318,12 @@ "J774.2 cell" "sporadic fetal brain disruption sequence" "obsolete_paternal 20q13.2q13.3 microdeletion syndrome" - "1-methyl-5-imidazoleacetate measurement" "obsolete_Asian Indian" + "1-methyl-5-imidazoleacetate measurement" "MDAMB453" - "X-12244--N-acetylcarnosine measurement" "serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha" "assay by instrument" + "X-12244--N-acetylcarnosine measurement" "SPARE" "obsolete_Schnyder corneal dystrophy" "obsolete_benign adult familial myoclonic epilepsy" @@ -38387,9 +38387,9 @@ "Darier disease" "obsolete_autosomal recessive hereditary sensory and autonomic neuropathy" "disorder of defective peroxisome oxidative status" + "mercuric chloride measurement"@en "myeloid suppressor cell" "Tietze syndrome" - "mercuric chloride measurement"@en "polydactyly of a triphalangeal thumb, bilateral" "kainic acid" "sporophyte meristematic apical cell" @@ -38437,11 +38437,11 @@ "obsolete_severe combined immunodeficiency" "Abnormal ileum morphology" "myopathy with hexagonally cross-linked tubular arrays" + "cicatricial alopecia" "adrenal medulla carcinoma" "obsolete_embryonic maxillary sensory complex" - "level of junction plakoglobin in blood serum" - "cicatricial alopecia" "Pneumopericardium" + "level of junction plakoglobin in blood serum" "level of glutathione hydrolase 5 proenzyme in blood serum" "macular retinal edema" "level of transcription factor 24 in blood serum" @@ -38483,17 +38483,17 @@ "neurocristopathy" "mitochondrial complex 4 deficiency, nuclear type 17" "hemoglobin C disease" - "obsolete_pontocerebellar hypoplasia type 8" "Fibrous Hamartoma of Infancy" "epispadias" "tumor necrosis factor receptor superfamily member EDAR measurement" + "obsolete_pontocerebellar hypoplasia type 8" "benign paroxysmal tonic upgaze of childhood with ataxia" "1-methylguanidine measurement" "obsolete_autosomal recessive proximal renal tubular acidosis" "obsolete_constitutional dyserythropoietic anemia" + "Benign infantile seizures associated to mild gastroenteritis" "level of carnitine O-palmitoyltransferase 1, muscle isoform in blood serum" "mosaic trisomy 13" - "Benign infantile seizures associated to mild gastroenteritis" "level of NTF2-related export protein 2 in blood serum" "Abnormal pattern of respiration" "centrosomal protein 43" @@ -38507,8 +38507,8 @@ "corm" "pancreatic acinus" "obsolete_hereditary folate malabsorption" - "leucine-rich repeat neuronal protein 1 measurement" "conduction system disorder" + "leucine-rich repeat neuronal protein 1 measurement" "L-phenylalanine metabolic process" "congenital disorder of glycosylation, type iit" "methylcobalamin deficiency type cblDv1" @@ -38531,13 +38531,13 @@ "microgram per day" "daidzein sulfate (2) measurement" "stamen" - "obsolete_pseudoaminopterin syndrome" "Phodopus sungorus" "response to immunochemotherapy" "platelet-type bleeding disorder 9" "BolA-like protein 2" "CUB and zona pellucida-like domain-containing protein 1 measurement" "GM06994" + "obsolete_pseudoaminopterin syndrome" "generalized epilepsy with febrile seizures plus, type 2" "Drosophila melanogaster" "post-operative delirium" @@ -38558,10 +38558,10 @@ "obsolete_juvenile amyotrophic lateral sclerosis" "level of PDZ domain-containing protein 11 in blood serum" "enterocyte" - "obsolete_Autosomal recessive nail dysplasia" "obsolete_stomatal complex" - "obsolete_carotid artery endothelium" + "obsolete_Autosomal recessive nail dysplasia" "distal monosomy 9p" + "obsolete_carotid artery endothelium" "mature CD8 single-positive thymocyte" "X-11261 measurement" "mitochondrial complex V deficiency, nuclear type 6" @@ -38637,8 +38637,8 @@ "Kleefstra syndrome" "cholesterol catabolic process disease" "neurotensin/neuromedin N" - "leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy" "Pediococcus pentosaceus" + "leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy" "Syndromic obesity" "protein unc-13 homolog D" "obsolete_methylcobalamin deficiency type cblDv1" @@ -38654,8 +38654,8 @@ "diacylglycerol 32:0 measurement" "cholesteryl esters to total lipids in small HDL percentage " "cysteine measurement" - "intellectual disability-sparse hair-brachydactyly syndrome" "Antley-Bixler syndrome" + "intellectual disability-sparse hair-brachydactyly syndrome" "drug-induced liver injury" "ChIP-exo" "5-hydroxy-2-furoic acid measurement" @@ -38674,9 +38674,9 @@ "haustorium" "putamen volume change measurement"@en "insulin-degrading enzyme measurement" + "Crouzon disease" "anti-social behavior" "inositol oxygenase" - "Crouzon disease" "megalencephaly-capillary malformation-polymicrogyria syndrome" "X-linked myopathy with excessive autophagy" "cardiomyopathy, familial hypertrophic, 4, susceptibility to" @@ -38689,11 +38689,11 @@ "muscle cell" "neuromedin-S" "VC199" + "diabetic ketoacidosis" "craniofacial tissue" "urotensin-2" "Meloidogyne graminicola" "amyloid beta precursor like protein 1" - "diabetic ketoacidosis" "level of low-density lipoprotein receptor-related protein 2 in blood serum" "glutamate receptor ionotropic, kainate 2" "adult Fanconi syndrome" @@ -38718,10 +38718,10 @@ "Prorubricyte Count" "obsolete rare disorder with dystonia and other neurologic or systemic manifestation" "anaphase-promoting complex subunit 7" + "Profiler" "chloride intracellular channel protein 4" "trait in response to sotalol" "anal canal squamous cell carcinoma" - "Profiler" "level of polypeptide N-acetylgalactosaminyltransferase 10 in blood serum" "scoliosis, isolated, susceptibility to, 1" "pregnancy-specific beta-1-glycoprotein 11" @@ -38834,8 +38834,8 @@ "neuromedin-U" "transcriptional activator protein Pur-beta" "glioblastoma H54" - "ChIP-BS-seq" "Colorectal Neuroendocrine Tumor G1" + "ChIP-BS-seq" "segmental bronchus" "root nodule" "autism spectrum disorder due to AUTS2 deficiency" @@ -38934,8 +38934,8 @@ "concentrated" "level of acyl-CoA-binding domain-containing protein 6 in blood serum" "NH4_C38:5 DAG_or_TAG_fragment measurement" - "mucocutaneous Leishmaniasis" "posterior meningocele" + "mucocutaneous Leishmaniasis" "systemic artery" "protein WWC1" "hereditary sclerosing poikiloderma, Weary type" @@ -39007,11 +39007,11 @@ "antibody measurement" "bladder sarcoma" "obsolete_genetic syndromic Pierre Robin syndrome" - "neonate" "Metabolic disease with macular cherry-red spot" + "neonate" "2-palmitoylglycerophosphoethanolamine measurement" - "protein FAM24B" "Est" + "protein FAM24B" "obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis" "Rho guanine nucleotide exchange factor TIAM2" "multiple keratinocyte carcinoma susceptibility measurement" @@ -39100,9 +39100,9 @@ "immunoglobulin superfamily member 11 measurement" "poliovirus infection" "obsolete_embryonic hindgut" - "Pneumovirus Infections" "CS57601" "vincristine" + "Pneumovirus Infections" "combined immunodeficiency due to GINS1 deficiency" "BRCA1-associated ATM activator 1" "acropectororenal dysplasia" @@ -39118,8 +39118,8 @@ "long QT syndrome 15" "Glu-Glu" "Postaxial polydactyly - dental and vertebral anomalies" - "Drosophila mauritiana" "protein kinase C-binding protein NELL2 measurement" + "Drosophila mauritiana" "trait in response to oxaliplatin" "iniencephaly" "obsolete_HepG2" @@ -39130,8 +39130,8 @@ "encounter with health service for breast reconstruction following mastectomy" "hemojuvelin measurement" "lacrimal gland neoplasm" - "quinolinate measurement" "CD59 glycoprotein measurement" + "quinolinate measurement" "YTH domain-containing protein 1" "rapid kidney function decline" "intellectual disability, autosomal dominant 57" @@ -39224,11 +39224,11 @@ "neurodevelopmental disorder with absent language and variable seizures" "serine/threonine-protein kinase MRCK alpha measurement" "alpha-N-acetylgalactosaminidase deficiency type 1" - "regenerating islet-derived protein 3-alpha measurement" "sumo-conjugating enzyme UBC9 measurement" - "TTC549" + "regenerating islet-derived protein 3-alpha measurement" "insulin-resistance syndrome type B" "Proximal tibial hypoplasia" + "TTC549" "Primrose syndrome" "3-Indolepropionic acid to Trimethylamine N-oxide ratio" "autoinflammatory disease, multisystem, with immune dysregulation, X-linked" @@ -39247,11 +39247,11 @@ "ovarian epithelial tumor" "radial neuropathy" "Oculoauricular syndrome, Schorderet type" + "X-linked spastic paraplegia type 34" "atopic march" "BolA-like protein 3" "musical aptitude" "Abnormal hair pattern" - "X-linked spastic paraplegia type 34" "post-operative acute kidney injury" "intellectual developmental disorder, autosomal dominant 65" "pyogenic arthritis-pyoderma gangrenosum-acne syndrome" @@ -39600,10 +39600,10 @@ "jejunal neoplasm" "obsolete_sirenomelia" "obsolete_Autosomal dominant neovascular inflammatory vitreoretinopathy" - "bile salt-activated lipase measurement" "Jiyoye" "endoglin measurement" "hypertrophic cardiomyopathy 13" + "bile salt-activated lipase measurement" "apical ectodermal ridge pelvic fin bud" "lectin-like oxidized LDL receptor 1 measurement" "Microglossia" @@ -39628,8 +39628,8 @@ "nerve plexus disease" "trypsin-2 measurement" "level of ADP-ribosylation factor-like protein 1 in blood serum" - "mitral valve prolapse, myxomatous 2" "Colorectal Serrated Adenocarcinoma" + "mitral valve prolapse, myxomatous 2" "proteasome activator complex subunit 3 measurement" "obsolete_open iniencephaly" "immunoglobulin J chain measurement" @@ -39710,10 +39710,10 @@ "annexin A11" "Genetic renal tubular disease" "ascending colon cancer" - "obsolete_partial duplication of the long arm of chromosome 17" "La Crosse virus" - "gap junction delta-2 protein measurement" + "obsolete_partial duplication of the long arm of chromosome 17" "melanoma staging" + "gap junction delta-2 protein measurement" "cytological, histological or immunological finding" "ubiquitin-conjugating enzyme E2 W" "Rett syndrome" @@ -39755,15 +39755,15 @@ "homeobox protein MOX-2" "mitochondrial ubiquitin ligase activator of NFKB 1 measurement" "obsolete_Arbisopsis thaliana" - "response to Par-4 dependent chemotherapy"@en "splenocyte" + "response to Par-4 dependent chemotherapy"@en "brachydactyly type B" "liver" "digestive system surgery"@en "autosomal dominant omodysplasia" "papillary lung adenocarcinoma" - "level of NEDD8-activating enzyme E1 catalytic subunit in blood serum" "hereditary angioedema with C1Inh deficiency" + "level of NEDD8-activating enzyme E1 catalytic subunit in blood serum" "fatty acid-binding protein; liver measurement" "Richter syndrome" "YCC16" @@ -39817,14 +39817,14 @@ "maleate" "AF16" "viral disease" + "level of ornithine decarboxylase antizyme in blood serum" "level of disintegrin and metalloproteinase domain-containing protein 29 in blood serum" "protein BUD31" - "level of ornithine decarboxylase antizyme in blood serum" "benign Samaritan congenital myopathy" "obsolete_congenital myopathy" "fibroblast growth factor receptor-like 1" - "procollagen galactosyltransferase 2" "obsolete_combined immunodeficiency due to CD3gamma deficiency" + "procollagen galactosyltransferase 2" "dyschondrosteosis-nephritis syndrome" "3-phenylpropionate hydrocinnamate measurement" "arachnoid cyst" @@ -39881,9 +39881,9 @@ "circadian sleep/wake cycle, non-REM sleep" "Weaver syndrome" "obsolete_distal portion of anterior interventricular branch of left coronary artery" - "serine/threonine-protein kinase PAK 4 measurement" "neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia" "polydactyly of an index finger, bilateral" + "serine/threonine-protein kinase PAK 4 measurement" "regulator of G-protein signaling 10 measurement" "superoxide dismutase [Cu-Zn] measurement" "obsolete_clinical factor" @@ -39943,9 +39943,9 @@ "X-24494 measurement" "obsolete_epibranchial 5" "Hypodontia - dysplasia of nails" + "neuropeptide W measurement" "2-hydroxyisobutyrate" "trait in response to tetracyclic antidepressant" - "neuropeptide W measurement" "kinesin-like protein KIF22" "obsolete_Stargardt disease" "level of mitogen-activated protein kinase kinase kinase kinase 1 in blood serum" @@ -39975,10 +39975,10 @@ "HS-27A" "Dysmorphism - short stature - deafness - disorder of sex development" "distal monosomy 10p" + "5-sulfo-13-benzenedicarboxylic acid measurement" "atrial conduction disease" "GM17197" "neuritis" - "5-sulfo-13-benzenedicarboxylic acid measurement" "response to trauma exposure" "rhabdomyosarcoma" "mitochondrial complex 4 deficiency, nuclear type 19" @@ -40068,8 +40068,8 @@ "surfeit locus protein 1" "Pseudofolliculitis barbae" "complement component C1q receptor measurement" - "Autosomal recessive early-onset inflammatory bowel disease" "rhinoscleroma" + "Autosomal recessive early-onset inflammatory bowel disease" "selenide, water dikinase 1" "menarche" "bilateral frontoparietal polymicrogyria" @@ -40085,10 +40085,10 @@ "level of nuclear factor erythroid 2-related factor 2 in blood serum" "urachus" "mRNA-decapping enzyme 1A" - "disintegrin and metalloproteinase domain-containing protein 12 measurement" "protein NDRG2" "Japan"@en "Japan" + "disintegrin and metalloproteinase domain-containing protein 12 measurement" "obsolete_refractive error" "obsolete inherited prion disease" "coronary vessel" @@ -40135,11 +40135,11 @@ "sphingosine 1-phosphate measurement" "Restrictive ventilatory defect" "C34:1 DAG NH4 measurement" + "triacylglycerol 54:8 measurement"@en "level of ADP-ribosylation factor-like protein 6 in blood serum" "Wistar-Furth" "level of Phosphatidylethanolamine (O-16:1_20:4) in blood serum" "body weight gain" - "triacylglycerol 54:8 measurement"@en "GFR change measurement" "autophagy protein 5" "mesomelic dwarfism, Reinhardt-Pfeiffer type" @@ -40154,16 +40154,16 @@ "obsolete_myelocystocele" "ABetaL34V amyloidosis" "pemphigus" + "obsolete_X and Y chromosomal anomaly" "lead atom" "coloboma of choroid and retina" - "obsolete_X and Y chromosomal anomaly" "level of GMP reductase 2 in blood serum" "diencephalic cancer" - "diacylglycerol 33:1 measurement" "embryonic central nervous system" "carotid plaque build" "eukaryotic tRNA pseudouridine synthase A" "GM12878" + "diacylglycerol 33:1 measurement" "ChIRP" "1,2-dilinoleoyl-GPC (18:2/18:2) measurement" "bronchiole" @@ -40220,8 +40220,8 @@ "obsolete_spondyloepiphyseal dysplasia congenita" "validation by real time PCR design" "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss" - "3-Indolepropionic acid to Hippuric acid ratio" "bromocriptine methanesulfonate" + "3-Indolepropionic acid to Hippuric acid ratio" "obsolete intercalary limb defects" "ether lipid biosynthetic process" "congenital disorder of deglycosylation 2" @@ -40232,16 +40232,16 @@ "body of pancreas" "level of polypeptide N-acetylgalactosaminyltransferase 13 in blood serum" "Eubalaena glacialis" - "level of epididymal-specific lipocalin-10 in blood serum" "progressive familial intrahepatic cholestasis type 1" + "level of epididymal-specific lipocalin-10 in blood serum" "hemin" "level of carbonic anhydrase-related protein in blood serum" + "7-methylurate measurement" "Thomsen and Becker disease" "beta-1,4-galactosyltransferase 3" - "7-methylurate measurement" "follistatin-related protein 4 measurement" - "common dendritic progenitor" "myristate 14:0 measurement" + "common dendritic progenitor" "IgG-positive double negative memory B cell" "Tay-Sachs disease, b variant, infantile form" "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3" @@ -40269,9 +40269,9 @@ "palmitoleate" "biomarker" "ring chromosome disorder" + "transcription regulator protein BACH2 measurement" "adenosine triphosphatase deficiency, anemia due to" "isolated thyroid-stimulating hormone deficiency" - "transcription regulator protein BACH2 measurement" "metastatic malignant neoplasm" "obsolete_microcephalic primordial dwarfism, Alazami type" "gonococcal prostatitis" @@ -40349,8 +40349,8 @@ "Zea mays subsp. mays" "NCI-H727" "antidepressant-induced hearing impairment" - "obsolete_Ulbright-Hodes syndrome" "alpha-1,3/1,6-mannosyltransferase ALG2" + "obsolete_Ulbright-Hodes syndrome" "anatomical system" "small cell carcinoma" "Sjogren-Larsson syndrome" @@ -40430,9 +40430,9 @@ "combined oxidative phosphorylation deficiency 43" "pancreatic carcinoma with mixed differentiation" "biliverdin reductase A measurement" - "Atonic seizure" - "obsolete_buttock" "chymotrypsin-like elastase family member 3B measurement" + "obsolete_buttock" + "Atonic seizure" "obsolete nitrogen compound metabolic process" "arthus reaction" "disks large homolog 3" @@ -40468,8 +40468,8 @@ "adrenal cortex" "mucinous ovarian cancer" "obsolete_carnitine palmitoyl transferase 1A deficiency" - "level of tumor necrosis factor alpha-induced protein 3 in blood serum" "nemonapride" + "level of tumor necrosis factor alpha-induced protein 3 in blood serum" "endomyometritis" "level of appetite-regulating hormone in blood serum" "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency" @@ -40507,10 +40507,10 @@ "caveolin-2" "phosphatidylcholine acyl-alkyl C36:2 measurement" "severe combined immunodeficiency due to CORO1A deficiency" - "palmitoleoyl-arachidonoyl-glycerol (16:1/20:4) [2] measurement" "maternal uniparental disomy of chromosome 4" "obsolete_tepal" "foot and mouth disease" + "palmitoleoyl-arachidonoyl-glycerol (16:1/20:4) [2] measurement" "endophenotype" "lymphoproliferative syndrome 1" "Cryptococcus neoformans" @@ -40562,8 +40562,8 @@ "large ribosomal subunit protein mL38" "obsolete_neurogenic palpebral tumor" "persistent Staphylococcus aureus carrier status" - "Gingival fibromatosis - progressive deafness" "level of insulin-like growth factor-binding protein 3 in blood serum" + "Gingival fibromatosis - progressive deafness" "jejunal neuroendocrine tumor, well differentiated, low or intermediate grade" "coatomer subunit epsilon" "obsolete_Huntington disease-like syndrome due to C9ORF72 expansions" @@ -40638,8 +40638,8 @@ "EM464" "honey-droplet corneal dystrophy" "neuropilin-2 measurement" - "juvenile type testicular granulosa cell tumor" "obsolete_Stickler syndrome" + "juvenile type testicular granulosa cell tumor" "orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 measurement" "placenta praevia" "level of ATP-dependent RNA helicase DHX58 in blood serum" @@ -40688,8 +40688,8 @@ "level of dimethyladenosine transferase 2, mitochondrial in blood serum" "level of immature colon carcinoma transcript 1 protein in blood serum" "developmental and epileptic encephalopathy, 90" - "CHL1" "obsolete_Naxos disease" + "CHL1" "Autosomal recessive axonal neuropathy with neuromyotonia" "Invasive Breast Carcinoma" "obsolete_distal portion of circumflex branch of left coronary artery" @@ -40726,9 +40726,9 @@ "TTN-related myopathy" "bacterial endocarditis" "level of poly(A) RNA polymerase, mitochondrial in blood serum" + "gamma-aminobutyric acid receptor-associated protein-like 2" "obsolete_acheiria" "obsolete_Spondyloenchondrodysplasia" - "gamma-aminobutyric acid receptor-associated protein-like 2" "obsolete_coxoauricular syndrome" "level of serine/arginine-rich splicing factor 6 in blood serum" "level of C4b-binding protein alpha chain in blood serum" @@ -40738,10 +40738,10 @@ "neonatal aspiration syndrome" "bone fracture" "nucleoside diphosphate kinase, mitochondrial" - "vascular endothelial growth factor receptor 3 measurement" "decreased cardiac output" - "O-3-methylglutarylcarnitine" + "vascular endothelial growth factor receptor 3 measurement" "D721Med" + "O-3-methylglutarylcarnitine" "Malignant Paraganglioma" "protein NDRG3" "Dilated cardiomyopathy - hypergonadotropic hypogonadism" @@ -40878,10 +40878,10 @@ "Lymphoma, AIDS-Related" "level of ecto-ADP-ribosyltransferase 5 in blood serum" "data file" + "redox-regulatory protein FAM213A measurement" "CS57884" "scapula" "adipocyte plasma membrane-associated protein" - "redox-regulatory protein FAM213A measurement" "Cryptococcus gattii" "obsolete_QC type flag" "obsolete_primary glomerular disease" @@ -40997,8 +40997,8 @@ "Gastric Choriocarcinoma" "X-21383 measurement" "vagina leiomyosarcoma" - "HBL100" "level of beta-defensin 103 in blood serum" + "HBL100" "obsolete_tooth ankylosis" "obsolete_ring chromosome 3" "GM10847" @@ -41032,14 +41032,14 @@ "serine--tRNA ligase, mitochondrial measurement" "anti-Mullerian hormone measurement" "multiple congenital anomalies-hypotonia-seizures syndrome 1" - "Umbilical cord ulceration - intestinal atresia" "obsolete_Kabuki syndrome" "Rare syndrome with cardiac malformations" - "taxonomic microbiome measurement" + "Umbilical cord ulceration - intestinal atresia" "obsolete_large intestine primordium" "response to serotonin-norephinephrine reuptake inhibitor" "Calyptogena magnifica symbiont" "bone disease" + "taxonomic microbiome measurement" "multicellular organism" "obsolete_cell line" "spinal muscular atrophy" @@ -41124,8 +41124,8 @@ "Orofacial dyskinesia" "hereditary spherocytosis" "X-24813 measurement" - "level of ATP-citrate synthase in blood serum" "lactoperoxidase measurement" + "level of ATP-citrate synthase in blood serum" "ubiquitin carboxyl-terminal hydrolase 21" "ancestry status"@en "ancestry status" @@ -41175,9 +41175,9 @@ "Eyebrow/eyelashes distichiasis" "vitamin D-dependent rickets, type 1" "ragulator complex protein LAMTOR2" + "obsolete_heart-hand syndrome type 3" "AIDS" "osteoarthritis biomarker measurement" - "obsolete_heart-hand syndrome type 3" "level of disintegrin and metalloproteinase domain-containing protein 32 in blood serum" "chondroitin sulfate N-acetylgalactosaminyltransferase 2" "L1 syndrome" @@ -41198,8 +41198,8 @@ "fracture of pelvis" "Sulfolobus solfataricus P2" "sphingomyeline C24:1 measurement" - "obsolete_intellectual disability-seizures-macrocephaly-obesity syndrome" "age of onset of Machado-Joseph disease" + "obsolete_intellectual disability-seizures-macrocephaly-obesity syndrome" "level of alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B in blood serum" "Hemoglobin S Measurement" "Ovarian Dysgerminoma" @@ -41250,9 +41250,9 @@ "obsolete_Proteus syndrome" "obsolete_clinical history age" "arsenite methyltransferase" - "hydroxypalmitoyl sphingomyelin (d18:1/16:0(OH)) measurement" "RARseq" "Reunion island Larsen syndrome" + "hydroxypalmitoyl sphingomyelin (d18:1/16:0(OH)) measurement" "brachyphalangy, polydactyly, and tibial aplasia/hypoplasia" "brain connectivity measurement" "level of DNA replication complex GINS protein PSF1 in blood serum" @@ -41266,8 +41266,8 @@ "antiemetic" "vascular endothelial function measurement"@en "obsolete_juvenile hyaline fibromatosis" - "Alopecia-contractures-dwarfism-intellectual disability syndrome" "obsolete_Charcot-Marie-Tooth disease type 2B1" + "Alopecia-contractures-dwarfism-intellectual disability syndrome" "matrix metalloproteinase-20" "Sensorineural deafness with dilated cardiomyopathy" "pipecolate" @@ -41346,8 +41346,8 @@ "adenohypophysis" "phosphatidylcholine 38:4" "Klippel-Trénaunay syndrome" - "rap1 GTPase-activating protein 1 measurement" "acute myeloid leukemia, inv(16)(p13.1;q22)" + "rap1 GTPase-activating protein 1 measurement" "mIMCD-3" "level of U11/U12 small nuclear ribonucleoprotein 25 kDa protein in blood serum" "minor salivary gland" @@ -41357,8 +41357,8 @@ "spermatogenic failure, X-linked, 3" "obsolete_autosomal dominant myoglobinuria" "microcephaly, developmental delay, and brittle hair syndrome" - "perirhinal cortex" "defensin beta 4A" + "perirhinal cortex" "obsolete_carnitine-acylcarnitine translocase deficiency" "obsolete_proximal spinal muscular atrophy" "glucan 1,4-alpha-glucosidase activity" @@ -41441,8 +41441,8 @@ "level of peptide chain release factor 1-like, mitochondrial in blood serum" "CLN5 disease" "Bilateral renal hypoplasia" - "familial pancreatic carcinoma" "Spondyloperipheral dysplasia - short ulna" + "familial pancreatic carcinoma" "Arterio-Arterial Fistula" "transcriptional enhancer factor TEF-5" "methoxychlor" @@ -41574,8 +41574,8 @@ "paclitaxel" "age of onset of Huntington disease" "Colon Juvenile Polyp" - "M059J" "obsolete_familial cutaneous collagenoma" + "M059J" "level of urotensin-2 receptor in blood serum" "juvenile nephropathic cystinosis" "Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation" @@ -41600,10 +41600,10 @@ "disopyramide" "distal trisomy 7p" "J.CaM2.5"@en - "tensin-2 measurement" "GM17258" "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome" "bone quantitative ultrasound measurement" + "tensin-2 measurement" "Philippines"@en "Philippines" "Impaired vibration sensation in the lower limbs" @@ -41618,8 +41618,8 @@ "1-stearoyl-2-oleoyl-GPS (18:0/18:1) measurement" "C34:2 phosphatidylethanolamine plasmalogen measurement" "5-dodecenoylcarnitine (C12:1) measurement" - "triacylglycerol 56:10 measurement"@en "Wistar-Kyoto" + "triacylglycerol 56:10 measurement"@en "serum non-albumin protein measurement" "autosomal dominant nonsyndromic hearing loss 17" "cerebellin-1" @@ -41674,8 +41674,8 @@ "prostate calculus" "level of C-C motif chemokine 2 in blood serum" "alar cartilages hypoplasia-coloboma-telecanthus syndrome" - "Paraplegia - intellectual disability - hyperkeratosis" "calponin-1" + "Paraplegia - intellectual disability - hyperkeratosis" "autoimmune oophoritis" "Cenchrus americanus" "X-21410 measurement" @@ -41683,9 +41683,9 @@ "carbon atom" "HCC1007" "Testicular torsion" + "obsolete_ring chromosome 9" "RNA-binding protein Nova-1" "mitochondrial disease" - "obsolete_ring chromosome 9" "obsolete_BE2C" "GM12864" "blood citramalate measurement" @@ -41694,9 +41694,9 @@ "histidine change measurement" "Diuretic use measurement" "mastodynia" + "L-Gulonic acid gamma-lactone measurement"@en "response to calcium channel blocker" "acrofacial dysostosis, Weyers type" - "L-Gulonic acid gamma-lactone measurement"@en "cannabinoid" "Chopra-Amiel-Gordon syndrome" "DMS-MapSeq" @@ -41754,8 +41754,8 @@ "anauxetic dysplasia 3" "stromal cell of lamina propria of large intestine" "survival of motor neuron-related-splicing factor 30" - "KG1" "bombesin receptor-activated protein C6orf89 measurement" + "KG1" "body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency" "coronary artery bypass" "paraplegia" @@ -41798,8 +41798,8 @@ "magnesium deficiency" "level of ski-like protein in blood serum" "mature CD16-positive myeloid dendritic cell" - "anterior segment dysgenesis 4" "chorea, benign familial" + "anterior segment dysgenesis 4" "vitamin transport" "level of selenocysteine lyase in blood serum" "partial epilepsy" @@ -41818,11 +41818,11 @@ "MAGUK p55 subfamily member 7" "transmembrane protein 132D measurement" "obsolete idiopathic and/or familial pulmonary arterial hypertension" - "15q11.2 microdeletion syndrome" "level of tryptophan--tRNA ligase, mitochondrial in blood serum" "carotid artery occlusion" - "tooth disease" + "15q11.2 microdeletion syndrome" "U3118MG" + "tooth disease" "obsolete rare female infertility due to adrenal disorder of genetic origin" "Blau syndrome" "Fanconi anemia complementation group I" @@ -41902,9 +41902,9 @@ "retinoic acid receptor RXR-alpha" "level of transcription factor ATOH1 in blood serum" "aspirin hydrolysis measurement" + "obsolete_frontometaphyseal dysplasia" "3 prime tag" "level of methenyltetrahydrofolate synthase domain-containing protein in blood serum" - "obsolete_frontometaphyseal dysplasia" "N,N-Dimethylglycine measurement" "spiral organ of cochlea" "neuralgic amyotrophy" @@ -41917,15 +41917,15 @@ "ILSXISS94/TejJ" "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" "Genetic skin vascular disorder" - "Eyebrow/eyelashes hypertrichosis" "insect dorsal epidermis primordium" - "Multiple non-ossifying fibromatosis" + "Eyebrow/eyelashes hypertrichosis" "response to recombinant tissue-plasminogen activator" "heparin cofactor 2 deficiency" + "Multiple non-ossifying fibromatosis" "obsolete_alopecia antibody deficiency" "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies" - "methylmalonyl-CoA epimerase, mitochondrial measurement" "tricuspid valve prolapse" + "methylmalonyl-CoA epimerase, mitochondrial measurement" "acrodysostosis 2 with or without hormone resistance" "neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade" "nucleoside biosynthetic process" @@ -41975,8 +41975,8 @@ "lung adenoma susceptibility protein 2" "zona pellucida sperm-binding protein 4" "mature natural killer cell" - "level of somatostatin receptor type 1 in blood serum" "myotonia permanens" + "level of somatostatin receptor type 1 in blood serum" "level of 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial in blood serum" "Lymphedema - cerebral arteriovenous anomaly" "type III endosome membrane protein TEMP measurement" @@ -41985,8 +41985,8 @@ "Methemoglobin to Total Hemoglobin Ratio Measurement" "asparaginase hypersensitivity" "nasal brush" - "DNA extraction protocol"@en "large ribosomal subunit protein eL38" + "DNA extraction protocol"@en "leucylleucine measurement" "PSAT deficiency" "test result" @@ -42014,9 +42014,9 @@ "Ehlers-Danlos syndrome type 1" "ONS-76"@en "pupa" + "obsolete_fibrodysplasia ossificans progressiva" "acute myeloid leukemia, t(16;16)(p13.1;q22)" "ATAC-seq" - "obsolete_fibrodysplasia ossificans progressiva" "parotid gland" "sphingosine measurement" "obsolete infantile Refsum disease" @@ -42090,8 +42090,8 @@ "level of protein LDOC1 in blood serum" "Isolated distichiasis" "hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome" - "histidine betaine (hercynine) measurement" "Webb-Dattani syndrome" + "histidine betaine (hercynine) measurement" "obsolete_sarcoidosis" "Paroxysmal exertion-induced dyskinesia" "obsolete_xeroderma pigmentosum" @@ -42153,8 +42153,8 @@ "12-oxo-ETE measurement" "pre-conventional dendritic cell" "isolated congenital anonychia" - "torsades de pointes" "prostaglandin E synthase 3" + "torsades de pointes" "level of endothelin-1 in blood serum" "Pitt-Hopkins-like syndrome 2" "GM15224" @@ -42204,26 +42204,26 @@ "protein deglycosylation" "congenital nemaline myopathy" "carotid artery dissection" - "level of histone-lysine N-methyltransferase ASH1L in blood serum" "obsolete_Revesz syndrome" + "level of histone-lysine N-methyltransferase ASH1L in blood serum" + "obsolete_KBG syndrome" "tyrosine kinase inhibitor" "Pipecolinic acid measurement" - "obsolete_KBG syndrome" - "integrin beta-2" "obsolete_non-syndromic gastroduodenal malformation" + "integrin beta-2" "Spinal cord injury" "myofibrillar myopathy, dominant"@en "Nezelof syndrome" "glutathione S-transferase mu 4" "WW domain-binding protein 2" "CMLT1" - "obsolete_progressive supranuclear palsy" "BMI-adjusted fasting blood insulin measurement" + "obsolete_progressive supranuclear palsy" "protein Wnt-11" "deafness, congenital heart defects, and posterior embryotoxon" "strain or line design" - "angiopoietin-2 measurement" "X-11334 measurement" + "angiopoietin-2 measurement" "beta-tectorin" "level of 26S proteasome non-ATPase regulatory subunit 11 in blood serum" "MAGE-TAB array data matrix file" @@ -42310,9 +42310,9 @@ "level of homer protein homolog 3 in blood serum" "8505C" "benign synovial neoplasm" - "immunodeficiency 106, susceptibility to viral infections" - "Gasterosteus aculeatus" "Antisynthetase syndrome" + "Gasterosteus aculeatus" + "immunodeficiency 106, susceptibility to viral infections" "2-butenoylglycine measurement" "partial trisomy/tetrasomy of chromosome 18" "Syracuse High Avoidance" @@ -42342,13 +42342,13 @@ "hypotaurine measurement"@en "CXCL12 measurement" "phenothiazine antipsychotic drug" - "regulator of G-protein signaling 8 measurement" "bronchus carcinoma in situ" "GM18507" + "regulator of G-protein signaling 8 measurement" "level of beta-enolase in blood serum" "level of voltage-gated potassium channel subunit KCNA10 in blood serum" - "hemorrhagic fever with renal syndrome" "Zlotogora-Ogur syndrome" + "hemorrhagic fever with renal syndrome" "level of 39S ribosomal protein L14, mitochondrial in blood serum" "Toriello-Lacassie-Droste syndrome" "VIP36-like protein" @@ -42400,8 +42400,8 @@ "female breast carcinoma" "taurochenodeoxycholate" "Decreased nerve conduction velocity" - "Rab GDP dissociation inhibitor alpha" "Aplasia of the thymus" + "Rab GDP dissociation inhibitor alpha" "level of pituitary homeobox 3 in blood serum" "purine nucleoside triphosphate metabolic process" "SNU-601" @@ -42496,11 +42496,11 @@ "obsolete_Becker's muscular dystrophy" "primary root apical meristem" "transmembrane protein 190 measurement" - "ATRFLOX" "X-21441 measurement" + "ATRFLOX" + "level of actin nucleation-promoting factor WAS in blood serum" "immature NK T cell stage III" "checkpoint protein HUS1" - "level of actin nucleation-promoting factor WAS in blood serum" "HCC1143" "Treponema infectious disease" "obsolete_bulbospinal muscular atrophy" @@ -42549,8 +42549,8 @@ "birth measurement" "tooth 4V" "glycogen storage disease due to phosphoglycerate kinase 1 deficiency" - "B-cell CLL/lymphoma 7 protein family member A" "O-methyleugenol" + "B-cell CLL/lymphoma 7 protein family member A" "26S proteasome non-ATPase regulatory subunit 10" "block" "probable N-acetyltransferase 14" @@ -42564,8 +42564,8 @@ "10x sequencing protocol" "atmosphere unit" "Syndromic diarrhea" - "asymptomatic myeloma" "obsolete_Fraser syndrome" + "asymptomatic myeloma" "N6-Acetyl-L-lysine measurement" "rib" "Acromelic frontonasal dysplasia" @@ -42607,8 +42607,8 @@ "Prosthesis-Related Infections" "level of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 1 in blood serum" "obsolete_accelerated neurological senescence" - "level of polycomb protein SCMH1 in blood serum" "left ventricular stroke volume measurement"@en + "level of polycomb protein SCMH1 in blood serum" "obsolete_presumptive telencephalon" "methionine-R-sulfoxide reductase B2, mitochondrial" "lamin-B1 measurement" @@ -42628,12 +42628,12 @@ "obsolete_phosphoenolpyruvate carboxykinase deficiency" "small intestine diverticulitis" "DnaJ homolog subfamily C member 18 measurement" - "bone morphogenetic protein 10 measurement" "vulvar eccrine adenocarcinoma" - "protein binding measurement"@en + "bone morphogenetic protein 10 measurement" "Oxyhemoglobin to Total Hemoglobin Ratio Measurement" "level of interleukin-28 receptor alpha chain in blood serum" "obsolete_avelline corneal dystrophy" + "protein binding measurement"@en "junctional epidermolysis bullosa" "skin meningioma" "Long Evans"@en @@ -42656,8 +42656,8 @@ "cystic, mucinous, and serous neoplasm" "obsolete_pontocerebellar hypoplasia type 3" "fibroblast growth factor 23 measurement" - "X-linked endothelial corneal dystrophy" "spindle cell intraocular melanoma" + "X-linked endothelial corneal dystrophy" "Plasmodium vivax malaria" "level of ezrin in blood serum" "level of glycolipid transfer protein domain-containing protein 2 in blood serum" @@ -42671,8 +42671,8 @@ "MED-MEB-8A"@en "acute myeloid leukemia, t(15;17)(q24;q21)" "obsolete_familial multiple fibrofolliculoma" - "obsolete_hemifacial hypertrophy" "level of U2 small nuclear ribonucleoprotein B'' in blood serum" + "obsolete_hemifacial hypertrophy" "sublingual gland" "intellectual disability, Wolff type" "21-hydroxypregnenolone disulfate measurement" @@ -42710,8 +42710,8 @@ "Visual field defect" "3 prime end bias" "xanthoma" - "3-methyl catechol sulfate (2) measurement" "all pairs" + "3-methyl catechol sulfate (2) measurement" "Abnormality of the sense of smell" "obsolete hereditary non-syndromic obesity" "Necrobiotic Xanthogranuloma" @@ -42788,14 +42788,14 @@ "obsolete_apodia" "bacterial pneumonia" "GM14508" - "1-oleoyl-2-arachidonoyl-GPE (18:1/20:4) measurement" "core-binding factor subunit beta" + "1-oleoyl-2-arachidonoyl-GPE (18:1/20:4) measurement" "obsolete_Roberstonian translocation" "disseminated superficial actinic porokeratosis" "obsolete_ophthalmomandibulomelic dysplasia" - "1-oleoylglycerol 1-monoolein measurement" "level of Ras-related protein Rab-4B in blood serum" "nucleoside diphosphate kinase 7" + "1-oleoylglycerol 1-monoolein measurement" "family history of prostate cancer" "focal adhesion kinase 1 measurement" "level of RNA-binding protein 41 in blood serum" @@ -42850,8 +42850,8 @@ "cathelicidin antimicrobial peptide" "Genetic respiratory malformation" "Retinal degeneration - nanophthalmos - glaucoma" - "obsolete_X-linked intellectual disability, Porteous type" "sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase measurement" + "obsolete_X-linked intellectual disability, Porteous type" "sample dissociation" "bacterial myocarditis" "obsolete_heart tube" @@ -42883,8 +42883,8 @@ "GM14568" "obsolete_aspirin induced asthma" "giant cell reparative granuloma" - "obsolete_Glycogen storage disease due to liver glycogen phosphorylase deficiency" "glycogen storage disease IXd" + "obsolete_Glycogen storage disease due to liver glycogen phosphorylase deficiency" "39S ribosomal protein L33, mitochondrial measurement" "Alexa Fluor 647" "trigeminal schwannoma" @@ -42909,12 +42909,12 @@ "negative regulation of circadian sleep/wake cycle, REM sleep" "level of casein kinase II subunit beta in blood serum" "obsolete_childhood-onset autosomal recessive myopathy with external ophthalmoplegia" - "balanitis" "obsolete_paramyotonia congenita of Von Eulenburg" + "balanitis" + "Primary ciliary dyskinesia - retinitis pigmentosa" "adult pineoblastoma" "acroosteolysis" "compound treatment design" - "Primary ciliary dyskinesia - retinitis pigmentosa" "Nano-hmC-Seal" "4-{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino}benzoic acid" "left superior temporal gyrus grey matter volume measurement" @@ -42926,12 +42926,12 @@ "dilated cardiomyopathy 1JJ" "obsolete_fatty liver" "flutamide" - "obsolete_colon neoplasm" "level of neuronal acetylcholine receptor subunit alpha-5 in blood serum" "congenital bile acid synthesis defect 1" - "desmoplastic medulloblastoma" + "obsolete_colon neoplasm" "obsolete perlecan-related bone disorder" "level of nuclear transcription factor Y subunit alpha in blood serum" + "desmoplastic medulloblastoma" "autosomal recessive titinopathy" "thyroid cancer, nonmedullary, 4" "atrioventricular septum" @@ -42966,8 +42966,8 @@ "600MPE" "obsolete_isolated focal cortical dysplasia type Ia" "1,2-dipalmitoyl-GPC (16:0/16:0) measurement" - "gamma-glutamylleucine measurement" "integumental system" + "gamma-glutamylleucine measurement" "red color blindness" "(S)-azetidine-2-carboxylic acid" "Syracuse Low Avoidance" @@ -43021,8 +43021,8 @@ "level of histone deacetylase complex subunit SAP30 in blood serum" "radiation quantity regimen" "familial patent arterial duct" - "Lens subluxation" "tiredness measurement" + "Lens subluxation" "obsolete_oculocerebrorenal syndrome" "level of VPS10 domain-containing receptor SorCS3 in blood serum" "Treponema denticola" @@ -43070,11 +43070,11 @@ "Niemann-Pick disease type C" "X-24243 measurement" "level of polypeptide N-acetylgalactosaminyltransferase 4 in blood serum" - "distal portion of right coronary artery" "tricho-oculo-dermo-vertebral syndrome" - "SKNEP1" - "vermiform appendix" "stereotypic movement disorder" + "distal portion of right coronary artery" + "vermiform appendix" + "SKNEP1" "level of protein kinase C and casein kinase substrate in neurons protein 2 in blood serum" "Brown-Vialetto-van Laere syndrome 1" "GM17265" @@ -43170,12 +43170,12 @@ "spectrin alpha chain, non-erythrocytic 1 measurement" "serine/threonine-protein kinase DCLK3 measurement" "3-methylglutarylcarnitine (2) measurement" - "obsolete_Upington disease" "obsolete_2p21 microdeletion syndrome" "obsolete_response to venlafaxine" "methylnaphthyl sulfate (1) measurement" "level of aldehyde dehydrogenase X, mitochondrial in blood serum" "DDT metabolite measurement" + "obsolete_Upington disease" "Smith-Lemli-Opitz syndrome" "urothelial carcinoma" "jejunal adenocarcinoma" @@ -43190,24 +43190,24 @@ "osteoporosis-pseudoglioma syndrome" "level of CYFIP-related Rac1 interactor B in blood serum" "obsolete_disorder of zinc metabolism" - "choroidal dystrophy, central areolar, 1" "X-21442 measurement" + "choroidal dystrophy, central areolar, 1" "immunodeficiency 74, COVID-19-related, X-linked" "autoimmune urticaria" + "Immunodeficiency" "immature NK T cell stage IV" "galactose epimerase deficiency" - "Immunodeficiency" "X-13548 measurement" "plexin-D1" "Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive" "t-cell surface glycoprotein CD8 beta chain measurement" "thoracic-to-hip circumference ratio measurement" + "BE(2)-C" "level of CD99 molecule-like protein 2 in blood serum" "leucine-rich repeat and fibronectin type-III domain-containing protein 5" "DNA primase small subunit" "benign insulitis" "Legg-Calve-Perthes disease" - "BE(2)-C" "obsolete_response to iloperidone" "bisphosphoglycerate mutase measurement" "Triticum dicoccoides" @@ -43224,8 +43224,8 @@ "X-11442 measurement" "OKP" "vitamin D measurement" - "Lisch epithelial corneal dystrophy" "polyethylene oxidized measurement" + "Lisch epithelial corneal dystrophy" "obsolete_periaqueductal gray" "microfibril-associated glycoprotein 4 measurement" "SNU-620" @@ -43306,20 +43306,20 @@ "Strongyloides ratti" "arterial tortuosity syndrome" "CLB-SAV"@en - "TSH-secreting pituitary adenoma" "disorientation"@en + "TSH-secreting pituitary adenoma" "obsolete lysosomal acid lipase deficiency" "obsolete trichorhinophalangeal syndrome type I or III" "level of actin nucleation-promoting factor WASL in blood serum" "childhood central nervous system germinoma" "Populus balsamifera" "ventral hyoid arch skeleton" + "level of interleukin-31 receptor A in blood serum" "isocitric acid" "spinocerebellar ataxia type 12" "vacuolar protein sorting-associated protein 4A" - "level of interleukin-31 receptor A in blood serum" - "level of methylated-DNA--protein-cysteine methyltransferase in blood serum" "atypical hypotonia-cystinuria syndrome" + "level of methylated-DNA--protein-cysteine methyltransferase in blood serum" "DnaJ homolog subfamily C member 27 measurement" "gap junction alpha-1 protein" "intellectual disability-hypotonia-skin hyperpigmentation syndrome" @@ -43336,8 +43336,8 @@ "maternal uniparental disomy of chromosome 14" "Charcot-Marie-Tooth disease X-linked recessive 5" "tyrosine-protein kinase RYK" - "posterior lateral line" "Hand tremor" + "posterior lateral line" "lung PEComa" "interferon regulatory factor 9" "level of sarcoplasmic/endoplasmic reticulum calcium ATPase 3 in blood serum" @@ -43462,8 +43462,8 @@ "obsolete rare familial disorder with hypertrophic cardiomyopathy" "obsolete_gnathodiaphyseal dysplasia" "prolyl 4-hydroxylase subunit alpha-2" - "tyrosine-protein kinase transmembrane receptor ROR2 measurement" "protein S deficiency" + "tyrosine-protein kinase transmembrane receptor ROR2 measurement" "Bos taurus" "Reticulocyte Corpuscular Hemoglobin Concentration Mean" "GM17275" @@ -43514,8 +43514,8 @@ "psoriasis vulgaris" "gelsolin measurement" "lutein measurement" - "obsolete_symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers" "rectum leiomyoma" + "obsolete_symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers" "PAIR" "BAG family molecular chaperone regulator 2" "Premature rupture of membranes" @@ -43525,8 +43525,8 @@ "Pear-shaped vertebrae" "Mucocutaneous venous malformations" "GM14569" - "Escherichia coli B str. REL606" "Neisseriaceae Infections" + "Escherichia coli B str. REL606" "DNA methylation"@en "17q11.2 microduplication syndrome" "sclera" @@ -43564,8 +43564,8 @@ "obsolete_Weissenbacher- Zweymuller syndrome" "Increased erythrocyte protoporphyrin concentration" "scChIP-seq" - "glossitis" "level of chondromodulin-1 in blood serum" + "glossitis" "3-methylbenzyl alcohol" "cartilage oligomeric matrix protein" "obsolete_Kandori fleck retina" @@ -43604,8 +43604,8 @@ "Rare female infertility due to an anomaly of ovarian function of genetic origin" "Nascent-Seq" "GBA carrier status" - "axial hypoblast" "level of EF-hand calcium-binding domain-containing protein 4B in blood serum" + "axial hypoblast" "developmental and epileptic encephalopathy, 42" "carcinoembryonic antigen-related cell adhesion molecule 7" "microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome" @@ -43617,9 +43617,9 @@ "mental health" "normal mucosa of esophagus-specific gene 1 protein" "Coloboma of macula - brachydactyly type B" + "Colon Neuroendocrine Tumor G1" "level of RNA binding protein fox-1 homolog 2 in blood serum" "acrocapitofemoral dysplasia" - "Colon Neuroendocrine Tumor G1" "decreased bone mass" "X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism" "congenital disorder of deglycosylation" @@ -43645,8 +43645,8 @@ "Heart defects - limb shortening" "Spinal Chordoma" "obsolete_DDOST-CDG" - "obsolete_long QT syndrome" "ATPase ASNA1 measurement" + "obsolete_long QT syndrome" "fulvestrant" "obsolete_familial thrombomodulin anomalies" "obsolete_adult foregut precursor" @@ -43758,8 +43758,8 @@ "Absent vertebral body mineralization" "rickets" "obsolete_Keutel syndrome" - "obsolete_pseudohypoaldosteronism type 1" "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome" + "obsolete_pseudohypoaldosteronism type 1" "nitrate" "papillary epithelial neoplasm" "CHILD syndrome" @@ -43795,9 +43795,9 @@ "Clonus" "Ascites" "obsolete_malonic aciduria" + "polyarticular juvenile idiopathic arthritis, rheumatoid factor negative" "malignant teratoma of mediastinum" "level of histone deacetylase 2 in blood serum" - "polyarticular juvenile idiopathic arthritis, rheumatoid factor negative" "level of lysine-specific demethylase 4C in blood serum" "Avascular necrosis" "Ocular Melanoma with Extraocular Extension" @@ -43831,15 +43831,15 @@ "liver CD103-negative dendritic cell" "relaxation of vascular associated smooth muscle" "radiation unit" + "obsolete_Blount disease" "obsolete_partial duplication of the long arm of chromosome 6" "ubiquitin-conjugating enzyme E2 Q1" "level of slit homolog 1 protein in blood serum" - "obsolete_Blount disease" "transient neonatal diabetes mellitus" "obsolete_multiple endocrine neoplasia type 1" "obsolete_combined pancreatic lipase-colipase deficiency" - "ANE syndrome" "maxillary neoplasm" + "ANE syndrome" "xeroderma pigmentosum group E" "integrin alpha-L" "N6-carbamoylthreonyladenosine measurement" @@ -43881,8 +43881,8 @@ "level of thioredoxin-like protein 4B in blood serum" "Gillichthys mirabilis" "benzo[a]pyrene diol epoxide I" - "AG09877" "cholesteryl ester 20:3 measurement"@en + "AG09877" "Cerebellar vermis hypoplasia" "microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum" "serine/threonine-protein kinase ULK3 measurement" @@ -44015,8 +44015,8 @@ "obsolete_CANDLE syndrome" "early placenta insulin-like peptide" "tumoral calcinosis, hyperphosphatemic, familial, 2" - "Dysplasia of Larynx" "chromosome Xp11.23-p11.22 duplication syndrome" + "Dysplasia of Larynx" "Abnormality of the cardiovascular system" "kynurenine 3-monooxygenase" "true unicornuate uterus" @@ -44071,10 +44071,10 @@ "ulnar-mammary syndrome" "Lung Lymphangioleiomyomatosis" "mandibuloacral dysplasia with type B lipodystrophy" + "obsolete_catecholaminergic polymorphic ventricular tachycardia" "level of protein naked cuticle homolog 2 in blood serum" "level of DnaJ homolog subfamily C member 10 in blood serum" "posttemporal" - "obsolete_catecholaminergic polymorphic ventricular tachycardia" "Intestinal malrotation" "PIK3CA-related overgrowth syndrome" "brachydactyly-preaxial hallux varus syndrome" @@ -44107,8 +44107,8 @@ "X inactivation, familial skewed" "R-6-hydroxywarfarin measurement" "Salmonella enterica subsp. enterica serovar Typhi" - "phosphatidylcholine O-38:0" "PBRM1-related BAFopathy" + "phosphatidylcholine O-38:0" "level of PAX-interacting protein 1 in blood serum" "thyroglobulin measurement" "chromosome 16p12.2-p11.2 deletion syndrome" @@ -44158,8 +44158,8 @@ "Renal cortical cysts" "polar solvent" "Hypocalcemic vitamin D-resistant rickets" - "guanine nucleotide exchange factor VAV3 measurement" "remnant cholesterol measurement" + "guanine nucleotide exchange factor VAV3 measurement" "Chara corallina" "charcot-marie-tooth disease, axonal, type 2t" "ring chromosome 19" @@ -44396,14 +44396,14 @@ "level of DNA fragmentation factor subunit alpha in blood serum" "Bayreuth ecotype" "level of integrin alpha-L in blood serum" - "obsolete_isolated focal cortical dysplasia type IIa" "level of 39S ribosomal protein L28, mitochondrial in blood serum" "carbohydrate sulfotransferase 6 measurement" - "Hydrocephalus - costovertebral dysplasia - Sprengel anomaly" + "obsolete_isolated focal cortical dysplasia type IIa" "estradiol 17-beta-dehydrogenase 2 measurement" "Bordetella pertussis" "rhombomere 5 floor plate" "Gaucher disease type III" + "Hydrocephalus - costovertebral dysplasia - Sprengel anomaly" "complement component 1 q subcomponent-binding protein, mitochondrial measurement" "level of dedicator of cytokinesis protein 2 in blood serum" "serine dehydratase-like" @@ -44727,19 +44727,19 @@ "level of protein LRATD2 in blood serum" "Helicobacter pylori infectious disease" "keratoacanthoma" - "tyrosine-protein kinase BLK" + "nephritis" "pneumonia severity measurement" + "tyrosine-protein kinase BLK" "focal epilepsy-intellectual disability-cerebro-cerebellar malformation" "Na(+)/H(+) exchange regulatory cofactor NHE-RF1" "Sphingomonas wittichii RW1" "erythrokeratoderma en cocardes" - "nephritis" + "escherichia phage virus seropositivity" "neuronopathy, distal hereditary motor, autosomal recessive 4" "collagen alpha-1(XX) chain" "apolipoprotein A-I deficiency" "X-13553 measurement" "brachydactyly type A1" - "escherichia phage virus seropositivity" "obsolete_90-8TL" "monokine induced by gamma interferon measurement" "Colorado tick fever" @@ -44763,8 +44763,8 @@ "obsolete_caecum" "obsolete_ex vivo design" "Appendix Neuroendocrine Tumor G1" - "Hyaluronidase deficiency" "ovarian follicle stage I" + "Hyaluronidase deficiency" "obsolete_alpha-mannosidosis, infantile form" "fallopian tube cystadenofibroma" "KIF5" @@ -44776,8 +44776,8 @@ "MDA-MB-330" "mitochondrial complex 4 deficiency, nuclear type 14" "level of Phosphatidylinositol (18:1_18:2) in blood serum" - "level of UPF0696 protein C11orf68 in blood serum" "Eyebrow/eyelashes structural anomaly" + "level of UPF0696 protein C11orf68 in blood serum" "obsolete_X-linked cleft palate and ankyloglossia" "obsolete_oculoosteocutaneous syndrome" "microfibrillar-associated protein 5 measurement" @@ -44954,8 +44954,8 @@ "Autosomal recessive spastic paraplegia type 39" "malignant syringoma" "Biliary tract obstruction" - "aldo-keto reductase family 1 member C3" "Distal 22q11.2 microdeletion syndrome" + "aldo-keto reductase family 1 member C3" "interleukin-31 receptor A" "beta-alanine" "hereditary palmoplantar keratoderma, Gamborg-Nielsen type" @@ -45004,10 +45004,10 @@ "obsolete_Malpighian tubule" "dystonia 9" "obsolete_myoclonus-dystonia syndrome" - "palmitoylcholine measurement" "hyRAD" "nephrolithiasis susceptibility caused by SLC26A1" "Osmerus mordax" + "palmitoylcholine measurement" "Kit-negative, Ly-76 high basophilic erythroblast" "AA87" "obsolete CLCN4-related X-linked intellectual disability syndrome" @@ -45050,16 +45050,16 @@ "carbonic anhydrase 1 measurement" "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" "complement component C6 measurement" + "Pierre Robin syndrome associated with collagen disease" "X-14189--leucylalanine measurement" "14-3-3 protein sigma measurement" "age-related hearing impairment" - "Pierre Robin syndrome associated with collagen disease" "60S ribosomal protein L30 measurement" "cleft lip/palate-ectodermal dysplasia syndrome" "chronic renal failure syndrome" "total lipids in medium HDL measurement " - "ciliary body" "endoribonuclease ZC3H12A" + "ciliary body" "level of tyrosine--tRNA ligase, mitochondrial in blood serum" "Heinz body anemia" "N-acetylvaline measurement" @@ -45078,8 +45078,8 @@ "HCASMC-hTERT"@en "COLO668" "atypical juvenile parkinsonism" - "luminal B breast carcinoma" "obsolete_citrullinemia type I" + "luminal B breast carcinoma" "high content analysis of cells by molecular content" "vestibulocochlear ganglion" "1-(1-enyl-stearoyl)-GPC (P-18:0) measurement" @@ -45216,8 +45216,8 @@ "interleukin-27 receptor subunit alpha measurement" "Axial hypotonia" "level of nuclear receptor ROR-beta in blood serum" - "dysmenorrheic pain measurement" "level of succinate-semialdehyde dehydrogenase, mitochondrial in blood serum" + "dysmenorrheic pain measurement" "obsolete_cerebral cortex" "methoprene" "chymase measurement" @@ -45255,20 +45255,20 @@ "arabitol measurement" "N-lysine methyltransferase SMYD2" "organization role" - "protein RIC-3" "meteorin-like protein" + "protein RIC-3" "DNA polymerase epsilon subunit 3" "Abnormal sternum morphology" "adrenal gland hyperfunction" "urethra leiomyoma" "blastula 1k-cell" "eukaryotic peptide chain release factor GTP-binding subunit ERF3B" - "level of kin of IRRE-like protein 1 in blood serum" "Salmonella Infections" + "level of kin of IRRE-like protein 1 in blood serum" + "eukaryotic initiation factor 4a-III measurement" "coated vesicle" "undetermined early-onset epileptic encephalopathy" "small pre-B-II cell" - "eukaryotic initiation factor 4a-III measurement" "Ectopic pregnancy" "bile duct papillary neoplasm" "malignant neoplasm of acoustic nerve" @@ -45277,8 +45277,8 @@ "Anti-mumps virus IgG measurement" "HG03139" "uncharacterized protein C20orf173 (human)" - "snmC-seq" "obsolete_lethal arteriopathy syndrome due to fibulin-4 deficiency" + "snmC-seq" "cancer of long bone of lower limb" "3-phosphoglyceric acid"@en "cholesteryl ester transfer protein measurement" @@ -45575,11 +45575,11 @@ "Obesity" "Otomandibular dysplasia associated with monogenic syndromes" "obsolete_Aarskog-Scott syndrome" + "CUB and Sushi domain-containing protein 1 measurement" "pancreatic lymphoma, familial" "non-high density lipoprotein cholesterol measurement" - "CUB and Sushi domain-containing protein 1 measurement" - "autosomal recessive spastic paraplegia type 67" "secretory phospholipase A2 receptor measurement" + "autosomal recessive spastic paraplegia type 67" "5-hydroxymethyl-dUMP N-hydrolase" "14-3-3 protein zeta/delta measurement" "anaphase-promoting complex subunit 10" @@ -45606,15 +45606,15 @@ "congenital macroglossia" "U3 small nucleolar RNA-associated protein 6" "activated RNA polymerase II transcriptional coactivator p15" - "obsolete_benign childhood occipital epilepsy, Gastaut type" "S-7-hydroxywarfarin measurement" "central hypoventilation syndrome, congenital" "huntingtin-interacting protein 1-related protein" "obsolete_14q12 microdeletion syndrome" "E3 ubiquitin-protein ligase RNF13" + "obsolete_benign childhood occipital epilepsy, Gastaut type" "Shoulder and girdle defects - familial intellectual disability" - "BEN domain-containing protein 6" "obsolete_sex" + "BEN domain-containing protein 6" "obsolete X-linked congenital disorder of glycosylation with intellectual disability as a major feature" "partial motor epilepsy" "Duane retraction syndrome 3 with or without deafness" @@ -45755,9 +45755,9 @@ "required for drug-induced death protein 1" "Li-Campeau syndrome" "congenital stationary night blindness" + "ML-1 cell" "Abnormality of the diaphragm" "Arenaviridae infectious disease" - "ML-1 cell" "Succinic acid measurement" "environmental tobacco smoke exposure measurement" "immunodeficiency 49" @@ -45771,11 +45771,11 @@ "Picea abies" "carnosine N-methyltransferase" "Female infertility due to an implantation defect of genetic origin" - "MRNA-capping enzyme measurement" "viral myocarditis" + "MRNA-capping enzyme measurement" "level of zinc finger SWIM domain-containing protein 7 in blood serum" - "beta-defensin 108B" "WE-68" + "beta-defensin 108B" "icSHAPE" "glycosyl-N-palmitoyl-sphingosine (d18:1/16:0) measurement" "epidermodysplasia verruciformis, X-linked" @@ -45798,8 +45798,8 @@ "faucial diphtheria" "level of serpin B5 in blood serum" "phosphatidylcholine 32:3" - "protein FAM209B measurement" "obsolete_familial hyperinsulinism" + "protein FAM209B measurement" "glycerol measurement" "osteogenesis imperfecta, recessive"@en "level of granzyme K in blood serum" @@ -46026,9 +46026,9 @@ "Aba-seq" "neuroligin-4, x-linked measurement" "immunodeficiency 36" - "Metaphyseal chondrodysplasia, Schmid type" "Cannabis use initiation" "Abnormal anterior eye segment morphology" + "Metaphyseal chondrodysplasia, Schmid type" "N-alpha-acetyltransferase 20" "ubiquitin-conjugating enzyme E2 S" "obsolete_recurrent Neisseria infections due to factor D deficiency" @@ -46100,10 +46100,10 @@ "level of neuroligin-1 in blood serum" "obsolete_acute neonatal citrullinemia type I" "X-linked intellectual disability, Cilliers type" + "platelet factor 4 variant measurement" "UMR-106" "saline" "phosphatidylethanolamine" - "platelet factor 4 variant measurement" "level of seizure 6-like protein in blood serum" "inosine" "multicellular organismal process" @@ -46122,8 +46122,8 @@ "chorea" "desmoglein-1 measurement" "obsolete_free sialic acid storage disease, infantile form" - "Cardiac Tamponade" "undifferentiated carcinoma of esophagus" + "Cardiac Tamponade" "cystinosis" "1-linoleoyl-2-linolenoyl-GPC (18:2/18:3) measurement" "mating type h plus" @@ -46181,8 +46181,8 @@ "interleukin 1 receptor-like 1 measurement" "6-phosphogluconate dehydrogenase, decarboxylating measurement" "Neuropathic spinal arthropathy" - "Micropenis" "protein NATD1" + "Micropenis" "level of Wee1-like protein kinase 2 in blood serum" "BK-virus nephropathy" "cranial nerve" @@ -46221,11 +46221,11 @@ "obsolete_alpha-N-acetylgalactosaminidase deficiency type 1" "amyotrophic lateral sclerosis type 8" "phosphate measurement"@en - "klebsiella phage virus seropositivity" "isthmin-1 measurement" "primary bone dysplasia with multiple joint dislocations" "chondrocalcinosis" "cullin-associated NEDD8-dissociated protein 1" + "klebsiella phage virus seropositivity" "human herpesvirus 8 seropositivity" "ACH-3P" "syntaxin-6" @@ -46252,8 +46252,8 @@ "ceramide" "hyalurononglucosaminidase activity" "response to cyclosporine" - "parathion measurement"@en "dysuria" + "parathion measurement"@en "pulse wave reflection index measurement" "obsolete_Aase-Smith syndrome" "level of Triacylglycerol (49:2) in blood serum" @@ -46307,8 +46307,8 @@ "age related macular degeneration 11" "transketolase deficiency" "5alpha-androstan-3alpha,17beta-diol monosulfate (1) measurement" - "intellectual developmental disorder, autosomal dominant 72" "triacylglycerol 58:9 measurement"@en + "intellectual developmental disorder, autosomal dominant 72" "dengue virus, susceptibility to" "thoracolumbosacral spina bifida cystica" "vanillate" @@ -46333,8 +46333,8 @@ "liver extraskeletal osteosarcoma" "protein flightless-1" "blepharophimosis - intellectual disability syndrome, SBBYS type" - "X-24334 measurement" "COMM domain-containing protein 9" + "X-24334 measurement" "obsolete_preopercle" "cerebral cavernous malformation 1" "(S)-3-hydroxybutyrylcarnitine measurement" @@ -46367,8 +46367,8 @@ "obsolete_knee joint" "Follicular Variant Thyroid Gland Papillary Carcinoma" "signaling threshold-regulating transmembrane adapter 1 measurement" - "peroxisome biogenesis disorder due to PEX6 defect" "obsolete_hyper-beta-alaninemia" + "peroxisome biogenesis disorder due to PEX6 defect" "disseminated atypical mycobacterial infection" "transcription elongation factor A protein 3" "glucokinase regulatory protein measurement" @@ -46477,8 +46477,8 @@ "cauda equina neoplasm" "small intestine lymphoma" "hyperlipoproteinemia type 3" - "iDES" "WM793" + "iDES" "level of Fc receptor-like protein 2 in blood serum" "oleoylcholine measurement" "short transmembrane mitochondrial protein 1 (human)" @@ -46564,8 +46564,8 @@ "narcolepsy without cataplexy" "glucuronate" "viral labyrinthitis" - "MAX gene-associated protein measurement" "beta-defensin 110" + "MAX gene-associated protein measurement" "dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome" "obsolete_disorder of pterin metabolism" "kelvin" @@ -46629,8 +46629,8 @@ "Clostridium perfringens" "frizzled-5" "proliferation-associated protein 2g4 measurement" - "3-Indolepropionic acid to L-Carnitine ratio" "inherited aplastic anemia" + "3-Indolepropionic acid to L-Carnitine ratio" "probable RNA-binding protein 18" "Tics" "vascular smooth muscle cell" @@ -46650,13 +46650,13 @@ "X-24657 measurement" "GM17824" "sphingomyelin 43:1/ 34:1 ratio measurement" + "Anti-hepatitis B virus surface antigen IgG measurement" "oculomotor nerve cancer" "adult spinal cord ependymoma" "obsolete_epibranchial placode" "SPAST-related motor disorder" "level of MHC class II histocompatibility antigen gamma chain in blood serum" "B-cell lymphoma/leukemia 10" - "Anti-hepatitis B virus surface antigen IgG measurement" "EnIGMA" "HG03175" "High pulse pressure" @@ -46685,8 +46685,8 @@ "vitamin A measurement" "level of cytochrome b-c1 complex subunit 7 in blood serum" "obsolete_partial duplication of the short arm of chromosome X" - "extraosseous osteosarcoma" "fenasulam measurement" + "extraosseous osteosarcoma" "disease staging" "double negative thymocyte" "HL-60/S4"@en @@ -46725,8 +46725,8 @@ "colonic mucosa" "obsolete_hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome" "Fallopian Tube Serous Adenocarcinoma" - "obsolete_IRIDA syndrome" "laryngeal diphtheria" + "obsolete_IRIDA syndrome" "Ehlers-Danlos syndrome, spondylodysplastic type, 2" "Congenital disorder of glycosylation with dilated cardiomyopathy" "vulvar neuroendocrine carcinoma" @@ -46770,8 +46770,8 @@ "Tetrahymena thermophila" "5-oxoprolinase deficiency" "X-24747 measurement" - "interleukin 1 Receptor accessory protein measurement" "tyrosine-protein kinase FYN measurement" + "interleukin 1 Receptor accessory protein measurement" "Pierre Robin syndrome associated with branchial archs anomalies" "Congenital lactic acidosis" "level of hyaluronidase-1 in blood serum" @@ -46794,8 +46794,8 @@ "septin-10 measurement" "taurodontia-absent teeth-sparse hair syndrome" "ovarian adenoma benign" - "glutathione S-transferase omega-1" "obsolete_cardiocranial syndrome, Pfeiffer type" + "glutathione S-transferase omega-1" "basophil percentage of leukocytes" "infantile hypertrophic pyloric stenosis" "obsolete_postaxial polydactyly type B, unilateral" @@ -46817,10 +46817,10 @@ "mitochondrial fission regulator 1 measurement" "obsolete_temtamy preaxial brachydactyly syndrome" "obsolete_familial hyperthyroidism due to mutations in TSH receptor" - "vaginal leiomyoma" "cold shock domain-containing protein E1" "Adenoiditis" "level of bridging integrator 3 in blood serum" + "vaginal leiomyoma" "T wave duration"@en "Abnormal upper motor neuron morphology" "Hypergonadotropic hypogonadism" @@ -46971,9 +46971,9 @@ "brain stem astrocytic neoplasm" "hypomyelinating leukodystrophy 2" "pentachlorophenol measurement"@en + "whole body water mass" "level of brain protein 44-like protein in blood serum" "spinal fracture" - "whole body water mass" "hereditary spastic paraplegia 77" "triacylglycerol 60:12 measurement"@en "urogenital tuberculosis" @@ -47043,8 +47043,8 @@ "congenital rubella" "level of cytosolic 5'-nucleotidase 3A in blood serum" "glucose-6-phosphate isomerase measurement" - "calnexin" "hemorrhoid" + "calnexin" "obsolete bulbospinal muscular atrophy of childhood" "Townes-Brocks syndrome" "X-12015 measurement" @@ -47055,8 +47055,8 @@ "autosomal recessive nonsyndromic hearing loss 9" "Proximal spinal muscular atrophy type 4" "obsolete_leukocyte adhesion deficiency" - "tumour of cranial and spinal nerves" "obsolete_hereditary chronic pancreatitis" + "tumour of cranial and spinal nerves" "TpTe measurement" "muscular dystrophy, congenital, with or without seizures" "nuclear RNA export factor 1 measurement" @@ -47106,8 +47106,8 @@ "calcaneus" "Sphingomyelin (d18:1/14:0, d16:1/16:0) measurement" "stressful life event measurement" - "iatrogenic Creutzfeldt-Jakob disease" "mitochondrial DNA depletion syndrome, encephalomyopathic form" + "iatrogenic Creutzfeldt-Jakob disease" "pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9" "obsolete_glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" "emphysema imaging measurement" @@ -47212,10 +47212,10 @@ "GM17160" "obsolete_distal portion of right coronary artery" "aggressive periodontitis" - "atrioventricular defect-blepharophimosis-radial and anal defect syndrome" "Sec1 family domain-containing protein 1" - "Abnormal soft palate morphology" + "atrioventricular defect-blepharophimosis-radial and anal defect syndrome" "phosphatidylcholine O-38:4" + "Abnormal soft palate morphology" "CS57671" "Abnormal circulating aromatic amino acid concentration" "combined oxidative phosphorylation deficiency 47" @@ -47268,9 +47268,9 @@ "Non-immune hydrops fetalis" "trisomy X" "ameloblast" + "Rare genetic hypothalamic or pituitary disease" "isolated anorectal malformation" "level of chymotrypsin-like elastase family member 3B in blood serum" - "Rare genetic hypothalamic or pituitary disease" "steroid lipomatosis" "17-beta-hydroxysteroid dehydrogenase 14 measurement" "abacavir" @@ -47341,8 +47341,8 @@ "Salmonella enterica subsp. enterica serovar Typhimurium str. LT2" "SOSS complex subunit B2" "prostaglandin g/h synthase 2 measurement" - "level of uroporphyrinogen decarboxylase in blood serum" "maternal phenylketonuria" + "level of uroporphyrinogen decarboxylase in blood serum" "3-Indolepropionic acid to 1,4-dihydro-1-Methyl-4-oxo-3-pyridinecarboxamide ratio" "3-hydroxy-3-methylglutaric aciduria" "retinitis pigmentosa 73" @@ -47370,10 +47370,10 @@ "level of keratin, type II cytoskeletal 71 in blood serum" "HG03196" "obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis" - "alcohol amnestic disorder" - "Heterotaxy" "Disease with diffuse palmoplantar keratoderma as a major feature" + "alcohol amnestic disorder" "revision of total joint arthroplasty"@en + "Heterotaxy" "UDP-glucuronic acid decarboxylase 1 measurement" "toll-like receptor 4 measurement" "ALG9-congenital disorder of glycosylation" @@ -47418,10 +47418,10 @@ "level of C-Maf-inducing protein in blood serum" "level of leukocyte immunoglobulin-like receptor subfamily A member 4 in blood serum" "autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation" - "embryonic stomatogastric nervous system" "Disorder of ketone body metabolism" - "ivermectin" + "embryonic stomatogastric nervous system" "X-linked Charcot-Marie-Tooth disease type 1" + "ivermectin" "Streptococcus pneumoniae D39" "obsolete_thoracolumbosacral spina bifida aperta" "granulocyte colony-stimulating factor measurement" @@ -47446,12 +47446,12 @@ "omega-3 polyunsaturated fatty acid measurement" "ILSXISS107/TejJ" "obsolete_benign partial epilepsy with secondarily generalized seizures in infancy" - "obsolete_zebra body myopathy" "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" "tyrosine-protein kinase FRK measurement" "protocadherin gamma-C3" "aniridia - intellectual disability syndrome" "obsolete_response to dabigatran etexilate" + "obsolete_zebra body myopathy" "regulator of G-protein signaling 8" "Genetic immune deficiency with skin involvement" "qualitative or quantitative defects of dysferlin" @@ -47637,15 +47637,15 @@ "level of hyaluronidase-4 in blood serum" "autosomal recessive cerebellar ataxia with late-onset spasticity" "X-13741 measurement" - "DNA library construction"@en "insecticide" + "DNA library construction"@en "Kaposi sarcoma, susceptibility to" "Uridine Diphosphate Galactose" - "CFW"@en "TPM3-related myopathy" + "CFW"@en "cartilage" - "CD24-positive, CD8 single-positive thymocyte" "Sus scrofa" + "CD24-positive, CD8 single-positive thymocyte" "porokeratosis 1, Mibelli type" "Rhodopseudomonas palustris CGA009" "mitochondrial complex 2 deficiency, nuclear type 2" @@ -47679,16 +47679,16 @@ "anti-polyomavirus 2 antibody measurement"@en "obsolete_apolipoprotein A-I deficiency" "CS57616" - "response to etoposide" "obsolete_pyruvate carboxylase deficiency, severe neonatal type" + "response to etoposide" "X-12117 measurement" "retinal perforation" "obsolete_spondylometaphyseal dysplasia, Czarny-Ratajczak type" "obsolete_genetic multiple congenital anomalies/dysmorphic syndrome" "GM17104" - "obsolete_lipoic acid synthetase deficiency" "ramus auricularis of the vagus nerve" "intellectual disability, autosomal dominant 20" + "obsolete_lipoic acid synthetase deficiency" "ribosome-binding protein 1 measurement" "cardiomyopathy, familial restrictive, 3" "IQ domain-containing protein F3" @@ -47791,19 +47791,19 @@ "Rare genetic vascular disease" "level of protein FAM9B in blood serum" "Atypical Endometrial Hyperplasia" + "obsolete_neuroectodermal melanolysosomal disease" "sebaceous gland neoplasm" "transferrin measurement" - "obsolete_neuroectodermal melanolysosomal disease" "hereditary neoplastic syndrome" "ATP-binding cassette sub-family C member 6" "response to opioid" "Madelung deformity, unilateral" "central hypoventilation syndrome, congenital, 2, and autonomic dysfunction" "cancer-associated retinopathy" - "skeletal dysplasia and progressive central nervous system degeneration, lethal" "Developmental malformations - deafness - dystonia" - "liver sarcoma" "keratin, type I cytoskeletal 17 measurement" + "skeletal dysplasia and progressive central nervous system degeneration, lethal" + "liver sarcoma" "N-icosanoylsphingosine-1-phosphocholine" "level of PHD finger protein 11 in blood serum" "level of AP-1 complex subunit beta-1 in blood serum" @@ -47866,12 +47866,12 @@ "CCD-1070Sk"@en "juvenile ankylosing spondylitis" "ECCITE-seq" - "process" "Illumina HiSeq 1500" + "process" + "dynein light chain roadblock-type 1 measurement" "Bla-1" "JAR" "distal" - "dynein light chain roadblock-type 1 measurement" "HG03460" "tripeptidyl-peptidase activity" "proctosigmoiditis" @@ -47964,8 +47964,8 @@ "p-tau measurement" "glottis cancer" "total lipids in VLDL measurement " - "obsolete_visual primordium" "O-butanoylcarnitine" + "obsolete_visual primordium" "obsolete_familial multiple lipomatosis" "acute papillary necrosis" "monoclonal B-cell lymphocytosis" @@ -47975,8 +47975,8 @@ "Pleuropulmonary blastoma" "level of zinc phosphodiesterase ELAC protein 1 in blood serum" "neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures" - "generational effect measurement" "keratin, type I cytoskeletal 20" + "generational effect measurement" "GM1 gangliosidosis" "polyneuropathy-intellectual disability-acromicria-premature menopause syndrome" "malignant perineurioma" @@ -48019,15 +48019,15 @@ "level of mediator of RNA polymerase II transcription subunit 10 in blood serum" "severe combined immunodeficiency due to IKK2 deficiency" "obsolete_immunoglobulin-mediated membranoproliferative glomerulonephritis" - "peroxisome biogenesis disorder due to PEX13 defect" "Mononegavirales infectious disease" + "peroxisome biogenesis disorder due to PEX13 defect" "membrane cofactor protein" "level of serpin H1 in blood serum" + "sphingomyelin measurement" "5-fluorouracil" "trait in response to antirheumatic drug" "medium-chain specific acyl-CoA dehydrogenase, mitochondrial" "Phanerochaete chrysosporium" - "sphingomyelin measurement" "holoprosencephaly" "mitogen-activated protein kinase kinase kinase kinase 1" "Poecilia reticulata" @@ -48104,12 +48104,12 @@ "obsolete_multiple epiphyseal dysplasia and pseudoachondroplasia" "coronary aneurysm" "host extracellular space" - "obsolete_congenital muscular dystrophy with hyperlaxity" "obsolete_bile acid CoA ligase deficiency and defective amidation" + "obsolete_congenital muscular dystrophy with hyperlaxity" "epibranchial 5" "DNA repair protein XRCC1 measurement" - "subcutaneous adipose tissue" "level of EMI domain-containing protein 1 in blood serum" + "subcutaneous adipose tissue" "Tn5 B1-4" "obsolete_joint formation defects" "obsolete_pentasomy X" @@ -48172,10 +48172,10 @@ "serine protease inhibitor Kazal-type 6 measurement" "obsolete_genetic central nervous system and retinal vascular disease" "receptor-type tyrosine-protein phosphatase S measurement" - "N-gondoylethanolamine" "5q35 microduplication syndrome" - "glutathione S-transferase theta-1" + "N-gondoylethanolamine" "amino acid transporter heavy chain SLC3A1" + "glutathione S-transferase theta-1" "X-12410 measurement" "neutrophil percentage of granulocytes" "Robinow syndrome" @@ -48201,8 +48201,8 @@ "histone deacetylase complex subunit SAP30L" "T1 B cell" "obsolete_distal monosomy 9p" - "X-24699 measurement" "thiamin pyrophosphokinase 1" + "X-24699 measurement" "Hantaan virus" "IgG4-related dacryoadenitis and sialadenitis" "GM17826" @@ -48381,14 +48381,14 @@ "sn-Hi-C" "salivary gland adenoid cystic carcinoma" "Rare bone disease related to a common gene or pathway defect" - "dickkopf-like protein 1 measurement" "X-11315-to-pyroglutamine ratio" + "dickkopf-like protein 1 measurement" "cadaver dissection" + "follicle cell of egg chamber" "Thalassiosira pseudonana CCMP1335" "Respiratory failure requiring assisted ventilation" "sense organ" "combined immunodeficiency due to moesin deficiency" - "follicle cell of egg chamber" "autosomal dominant intermediate Charcot-Marie-Tooth disease" "level of Triacylglycerol (53:3) in blood serum" "phosphatidylcholine (18:0/20:2, 20:0/18:2) measurement" @@ -48475,8 +48475,8 @@ "gastrin secretion abnormality" "nuclear transcription factor Y subunit alpha" "level of PHD finger protein 3 in blood serum" - "level of protein S100-A9 in blood serum" "Other syndrome with lissencephaly as a major feature" + "level of protein S100-A9 in blood serum" "dedicator of cytokinesis protein 2" "rectum rhabdomyosarcoma" "cyclin-dependent kinase 1:g2/mitotic-specific cyclin-B1 complex measurement" @@ -48520,8 +48520,8 @@ "chloride intracellular channel protein 2" "obsolete_qualitative or quantitative defects of emerin" "ADP-ribosylation factor 6" - "obsolete_2q31.1 microduplication syndrome" "Non-syndromic pontocerebellar hypoplasia" + "obsolete_2q31.1 microduplication syndrome" "17q12 microdeletion syndrome" "GM12873" "distal 16p11.2 microdeletion syndrome" @@ -48549,15 +48549,15 @@ "cell death regulator Aven" "CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell" "obsolete_MGAT2-CDG" - "ephrin-B1 measurement" "obsolete_embryonic inner optic lobe primordium" + "ephrin-B1 measurement" "Epstein Barr viral capsid antigen IgG measurement" "autosomal recessive limb-girdle muscular dystrophy type 2J" "pancreatic cancer, susceptibility to, 4" "Mitochondrial oxidative phosphorylation disorder with no known mechanism" "cervicothoracic spina bifida cystica" - "pre-mRNA-splicing regulator WTAP" "B-cell non-Hodgkins lymphoma" + "pre-mRNA-splicing regulator WTAP" "Baraitser-Winter syndrome 1" "progressive familial intrahepatic cholestasis" "TPM2-related myopathy" @@ -48721,8 +48721,8 @@ "obsolete myoclonic epilepsy of infancy" "droplet-based cell isolation" "Tribolium castaneum" - "3-Indolepropionic acid to Dodecanedioic aicd ratio" "Rothmund-Thomson syndrome type 1" + "3-Indolepropionic acid to Dodecanedioic aicd ratio" "Haplochromis burtoni" "double negative memory B cell" "atrial standstill" @@ -48871,8 +48871,8 @@ "triatrial heart" "tyrosine-protein kinase LCK measurement" "GM17833" - "obsolete_autosomal dominant macrothrombocytopenia" "plasma betaine measurement" + "obsolete_autosomal dominant macrothrombocytopenia" "protein MEMO1" "level of CD7 molecule in blood serum" "alpha,alpha-trehalase activity" @@ -48918,13 +48918,13 @@ "osteogenesis imperfecta type 1" "autosomal recessive congenital ichthyosis" "X-24728 measurement" + "Disorder of peptide metabolism" "AKT2-related familial partial lipodystrophy" "SW707"@en - "Disorder of peptide metabolism" - "GM17227" - "peroxisome biogenesis disorder 10A (Zellweger)" "1-margaroyl-GPC (17:0) measurement" "U6A" + "GM17227" + "peroxisome biogenesis disorder 10A (Zellweger)" "obsolete_vagal placode 3" "imperforate anus" "level of keratin-associated protein 2-4 in blood serum" @@ -48993,15 +48993,15 @@ "ILSXISS112/TejJ" "1-methylinosine" "tyrosine-protein phosphatase non-receptor type 7 measurement" - "protocadherin gamma-C5" "congenital heart disease" + "protocadherin gamma-C5" "corticosteroid-binding globulin deficiency" "X-24757 measurement" "Rhodobacter sphaeroides 2.4.1" "obsolete_ArrayExpress experiment type" "chronic atrial and intestinal dysrhythmia" - "traditional Chinese medicine type" "7-chlorokynurenic acid" + "traditional Chinese medicine type" "level of SLIT-ROBO Rho GTPase-activating protein 2 in blood serum" "obsolete membrane part" "level of Max-like protein X in blood serum" @@ -49018,8 +49018,8 @@ "Reis-Bucklers corneal dystrophy" "H syndrome" "mitochondrial complex 2 deficiency, nuclear type 3" - "serine-rich single-pass membrane protein 1 measurement" "inferior temporal gyrus volume measurement"@en + "serine-rich single-pass membrane protein 1 measurement" "substrate type" "chronic gingivitis" "juvenile primary lateral sclerosis" @@ -49084,8 +49084,8 @@ "congenital sialidosis type 2" "obsolete_disorder of phenylalanine metabolism" "single cell Hi-C" - "obsolete_Charcot-Marie-Tooth disease type 4J" "dipeptidyl peptidase 1 measurement" + "obsolete_Charcot-Marie-Tooth disease type 4J" "femoral agenesis/hypoplasia" "soft tissue disease" "glycogen storage disease due to acid maltase deficiency, late-onset" @@ -49095,8 +49095,8 @@ "kelch-like ECH-associated protein 1 measurement" "Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism" "obsolete_Cooks syndrome" - "anti-human herpes virus 6 antibody measurement"@en "sphingomyelin 22:0 measurement"@en + "anti-human herpes virus 6 antibody measurement"@en "omentum" "fertilized ovule stage" "Pediococcus acidilactici" @@ -49120,9 +49120,9 @@ "Citrullinuria" "femoral neck fracture" "N-acetylserine measurement" + "cathepsin E measurement" "membrane-bound transcription factor site-1 protease" "RAB6-interacting golgin" - "cathepsin E measurement" "spermatogenic failure 66" "obsolete_infantile epileptic-dyskinetic encephalopathy" "multiple acyl-CoA dehydrogenase deficiency" @@ -49197,8 +49197,8 @@ "Fc receptor-like protein 6 measurement" "izumo sperm-egg fusion protein 4" "obsolete_somite 13" - "Muscular hypertrophy - hepatomegaly - polyhydramnios" "CS57874" + "Muscular hypertrophy - hepatomegaly - polyhydramnios" "apelin" "ChEC-seq" "CCD-33Lu" @@ -49252,9 +49252,9 @@ "obsolete_humero-radial synostosis, unilateral" "HuTu-80" "congenital muscular dystrophy 1B" - "Pancreatic Large Cell Neuroendocrine Carcinoma" "Ly6/PLAUR domain-containing protein 3 measurement" "transposition of the great arteries, dextro-looped" + "Pancreatic Large Cell Neuroendocrine Carcinoma" "2-arachidonoylglycerol (20:4) measurement" "cytohesin-4" "brain disease" @@ -49269,10 +49269,10 @@ "Muscular dystrophy - white matter spongiosis" "pediatric hepatocellular carcinoma" "cranial nerve neoplasm" - "iPS-17b" + "X-12093 measurement" "nemaline myopathy 7" + "iPS-17b" "level of mitochondrial import inner membrane translocase subunit Tim21 in blood serum" - "X-12093 measurement" "aplasia cutis congenita" "embryonic cell (metazoa)" "trafficking protein particle complex subunit 6B" @@ -49291,8 +49291,8 @@ "cataract 12 multiple types" "vancomycin" "Disorder of serine or glycine metabolism" - "level of activating signal cointegrator 1 complex subunit 2 in blood serum" "beta-mannosidase measurement" + "level of activating signal cointegrator 1 complex subunit 2 in blood serum" "inner ear disease" "benign muscle neoplasm" "phencyclidine" @@ -49379,9 +49379,9 @@ "Andropogon gerardii" "Abnormal hip joint morphology" "epilepsy with myoclonic absences" + "melancholia" "Baralle-Macken syndrome" "premature cardiac contractions" - "melancholia" "obsolete_intestinal malformation" "ILSXISS84/TejJ" "level of glutaryl-CoA dehydrogenase, mitochondrial in blood serum" @@ -49415,11 +49415,11 @@ "methylcobalamin deficiency type cblE" "UTMC-2"@en "Festuca rubra subsp. littoralis" - "Disorder of the gamma-glutamyl cycle" "obsolete_pyruvate carboxylase deficiency, infantile form" "level of transmembrane protease serine 6 in blood serum" "level of sodium/iodide cotransporter in blood serum" "lissencephaly due to TUBA1A mutation" + "Disorder of the gamma-glutamyl cycle" "level of transmembrane and coiled-coil domain-containing protein 5A in blood serum" "GM1 ganglioside measurement" "Burren ecotype" @@ -49434,8 +49434,8 @@ "cystinuria type A" "wake after sleep onset"@en "rectal sarcomatoid carcinoma" - "mandibuloacral dysplasia with type A lipodystrophy" "rheumatoid lung disease" + "mandibuloacral dysplasia with type A lipodystrophy" "vascular tissue" "nephrotic syndrome, type 4" "level of cancer/testis antigen 55 (human) in blood serum" @@ -49716,8 +49716,8 @@ "NOR/LtJ"@en "Staphylococcus lentus" "obsolete_porencephaly-microcephaly-bilateral congenital cataract syndrome" - "obsolete_short rib-polydactyly syndrome" "nectin-3" + "obsolete_short rib-polydactyly syndrome" "level of beta-1,3-galactosyltransferase 1 in blood serum" "serine/arginine-rich splicing factor 7 measurement" "Joubert syndrome with oculorenal defect" @@ -49843,9 +49843,9 @@ "level of interleukin-15 receptor subunit alpha in blood serum" "Rickettsia conorii str. Malish 7" "regulation of saliva secretion" + "obsolete_pure hereditary spastic paraplegia" "3-methyladipate(2-)" "level of protein S100-Z in blood serum" - "obsolete_pure hereditary spastic paraplegia" "antinematodal drug" "Sandal gap" "cyclin-dependent kinase 5:cyclin-dependent kinase 5 activator 1 complex measurement" @@ -49890,8 +49890,8 @@ "hyper-IgE recurrent infection syndrome 5, autosomal recessive" "hepatic tuberculosis" "obsolete_autosomal dominant isolated diffuse palmoplantar keratoderma" - "ADP-ribosylation factor GTPase-activating protein 2" "hydrophthalmos" + "ADP-ribosylation factor GTPase-activating protein 2" "Gossypium herbaceum" "neurodevelopmental disorder with dysmorphic facies and variable seizures" "spinocerebellar ataxia type 26" @@ -49948,11 +49948,11 @@ "level of ubiquitin carboxyl-terminal hydrolase 19 in blood serum" "carbohydrate transport" "T-Cell Prolymphocytic Leukemia" - "level of secretoglobin family 3A member 2 in blood serum" "X-12094 measurement" + "level of secretoglobin family 3A member 2 in blood serum" "Smart-seq" - "Joubert syndrome 36" "embryonic stem cell" + "Joubert syndrome 36" "NCI-H3255" "obsolete_response to lithium" "intuition" @@ -49977,10 +49977,10 @@ "Pancreatic Precancerous Condition" "cytohesin-interacting protein" "neuron" - "TBP-105Q" "aortic disease" - "prokineticin-2" + "TBP-105Q" "obsolete_renal artery" + "prokineticin-2" "hypophosphatemic rickets, X-linked recessive" "endometrioid tumor" "Toll-like receptor 5" @@ -49999,11 +49999,11 @@ "Joubert syndrome 6" "obsolete muscular glycogenosis" "inborn disorder of peptide metabolism" + "obsolete_tuberculosis" "organization"@en "organization" "mucosa-associated lymphoid tissue lymphoma translocation protein 1" "Litomosoides sigmodontis" - "obsolete_tuberculosis" "pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16" "melanocytic skin neoplasm" "osteopoikilosis" @@ -50064,8 +50064,8 @@ "SKMC" "probable RNA-binding protein 23" "giant axonal neuropathy 2" - "cholesteryl ester 14:0 measurement"@en "fenazaquin" + "cholesteryl ester 14:0 measurement"@en "obsolete_spondyloepimetaphyseal dysplasia, Bieganski type" "level of protein kish-A in blood serum" "benign laryngeal neoplasm" @@ -50278,8 +50278,8 @@ "BMI-adjusted waist circumference" "Waldenstrom macroglobulinemia" "level of T-cell-specific surface glycoprotein CD28 in blood serum" - "alpha-galactosidase activity" "long read sequencer" + "alpha-galactosidase activity" "FACS-seq" "dual specificity mitogen-activated protein kinase kinase 1 measurement" "protein S100-A4 measurement" @@ -50374,8 +50374,8 @@ "Burkholderia multivorans" "obsolete_neurofibromatosis type II" "obsolete_partial duplication of the short arm of chromosome 1" - "BL-3" "vitreous detachment" + "BL-3" "forkhead box protein P3" "minimal erythema dose" "phosphatidylcholine O-36:1" @@ -50386,8 +50386,8 @@ "obsolete_oculocerebrofacial syndrome, Kaufman type" "parkinsonism-dystonia, infantile" "Cucumis melo" - "Deafness - epiphyseal dysplasia - short stature" "Bladder Small Cell Neuroendocrine Carcinoma" + "Deafness - epiphyseal dysplasia - short stature" "level of N-alpha-acetyltransferase 20 in blood serum" "isochromosome Y" "obsolete_humerus" @@ -50450,13 +50450,13 @@ "colon adenocarcinoma" "level of beta-1,3-galactosyltransferase 2 in blood serum" "Plasmopara viticola" - "Multiple sulfatase deficiency" "obsolete_autosomal dominant limb-girdle muscular dystrophy type 1G" "complement C1q-like protein 4 measurement" "granulocyte percentage of myeloid white cells" "alcohol-induced disorders" "triglycerides in large LDL measurement " "polydactyly, postaxial, type A6" + "Multiple sulfatase deficiency" "cerebral artery" "pigmented nodular adrenocortical disease, primary, 1" "benign familial mesial temporal lobe epilepsy" @@ -50484,13 +50484,13 @@ "self-healing collodion baby" "myeloperoxidase (MPO)-DNA complex measurement"@en "obsolete_nucleus of terminal stria" - "hereditary sensory and autonomic neuropathy type 1" "Peroxisome biogenesis disorder-Zellweger syndrome spectrum" - "iatrogenic Kaposi's sarcoma" + "hereditary sensory and autonomic neuropathy type 1" "obsolete_combined deficiency of factor V and factor VIII" + "iatrogenic Kaposi's sarcoma" "1-stearoyl-GPC (18:0) measurement" - "secretagogin" "tsA-201" + "secretagogin" "partial deletion of the long arm of chromosome 2" "Chest pain" "143B" @@ -50503,17 +50503,17 @@ "Abnormal renal physiology" "Abnormal male internal genitalia morphology" "obsolete_autosomal dominant optic atrophy plus syndrome" - "obsolete_maternally-inherited mitochondrial myopathy" "4C" "Physarum polycephalum" "protein FAM209B" "macrodactyly of toes" + "obsolete_maternally-inherited mitochondrial myopathy" "1-methylguanine measurement" "interleukin-1 family member 5" "ganglioglioma" "fetomaternal transfusion" - "level of protocadherin beta-2 in blood serum" "obsolete_T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency" + "level of protocadherin beta-2 in blood serum" "acute myeloid leukemia, del(13q14-q21)" "pineal region yolk sac tumor" "macrophage mannose receptor 1 measurement" @@ -50547,8 +50547,8 @@ "paragonimiasis" "GTPase IMAP family member 4" "RAC-beta serine/threonine-protein kinase measurement" - "afimoxifene" "obsolete_response to interferon beta" + "afimoxifene" "RAB23-related Carpenter syndrome" "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3" "X-linked erythropoietic protoporphyria" @@ -50642,9 +50642,9 @@ "obsolete sudden infant death syndrome" "ankyrin repeat and SOCS box protein 9" "short-term memory" - "susceptibility to strep throat measurement" "Mycobacterium bovis BCG str. Pasteur 1173P2" "obsolete_muscle" + "susceptibility to strep throat measurement" "level of neuritin-like protein in blood serum" "femoral neck bone geometry" "level of secreted frizzled-related protein 5 in blood serum" @@ -50684,8 +50684,8 @@ "epidermolysis bullosa simplex 2C, localized" "renal tubular acidosis" "Saccharum sp." - "butyrophilin subfamily 2 member A1" "obsolete_melorheostosis with osteopoikilosis" + "butyrophilin subfamily 2 member A1" "eyes absent homolog 2" "obsolete_immunodeficiency due to MASP-2 deficiency" "X-12095--N1-methyl-3-pyridone-4-carboxamide measurement" @@ -50702,13 +50702,13 @@ "Platyhelminthes life stage" "obsolete_10x v1" "cathepsin H measurement" + "glutathione synthetase deficiency without 5-oxoprolinuria" "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial" "level of bifunctional coenzyme A synthase in blood serum" - "glutathione synthetase deficiency without 5-oxoprolinuria" "MSiPS" - "ecthyma" "thigh muscle fat infiltration measurement"@en "Tessier cleft" + "ecthyma" "lens disease" "Generalized hypotonia" "obsolete_cervicothoracic spina bifida aperta" @@ -50722,9 +50722,9 @@ "femtogram" "Abnormality of the bladder" "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive" - "kin of IRRE-like protein 2 measurement" "calpain-3 measurement" "obsolete_inflammation" + "kin of IRRE-like protein 2 measurement" "obsolete_complex hereditary spastic paraplegia" "gallbladder rhabdomyosarcoma" "obsolete_masseter muscle" @@ -50764,8 +50764,8 @@ "hereditary nonpolyposis colon cancer" "transmembrane protein 237" "PAGOD syndrome" - "level of actin-binding LIM protein 3 in blood serum" "Pleuronichthys verticalis" + "level of actin-binding LIM protein 3 in blood serum" "hepatitis E virus infection" "familial benign copper deficiency" "obsolete_occult macular dystrophy" @@ -50863,8 +50863,8 @@ "causalgia" "ovary rhabdomyosarcoma" "colorectal cancer, susceptibility to, 3" - "Intervertebral Disc Displacement" "level of myosin light chain 4 in blood serum" + "Intervertebral Disc Displacement" "DnaJ homolog subfamily B member 9 measurement" "type IV hypersensitivity disease" "1-stearoyl-2-linoleoyl-GPI (18:0/18:2) measurement" @@ -50931,9 +50931,9 @@ "oculomotor nuclear complex" "splenic tingible body macrophage" "obsolete_Fatal infantile cytochrome C oxidase deficiency" + "obsolete_mitochondrial membrane transport disorder" "split foot, bilateral" "obsolete wheat allergic disease" - "obsolete_mitochondrial membrane transport disorder" "Neosartorya fennelliae" "protonema" "Populus yunnanensis" @@ -50945,8 +50945,8 @@ "response to tenofovir" "Abnormality of the urinary system" "obsolete_pericardial and diaphragmatic defect" - "blood osmolality measurement" "pars opercularis volume measurement"@en + "blood osmolality measurement" "progressive retinal dystrophy due to retinol transport defect" "Charcot-Marie-Tooth disease dominant intermediate B" "placental smooth muscle cell"@en @@ -51017,8 +51017,8 @@ "obsolete_pleura" "urinary bladder urothelium" "level of IgLON family member 5 in blood serum" - "obsolete_congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency" "DMGV measurement" + "obsolete_congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency" "level of tumor protein D54 in blood serum" "level of pleckstrin homology domain-containing family A member 1 in blood serum" "keratosis pilaris" @@ -51045,8 +51045,8 @@ "obsolete_12q15q21.1 microdeletion syndrome" "lymphoblast" "myomesin-3" - "beta-adrenergic receptor kinase 1 measurement" "AG11364" + "beta-adrenergic receptor kinase 1 measurement" "level of interleukin-1 receptor-like 2 in blood serum" "neuromuscular junction" "Health Assessment Questionnaire Disability Index"@en @@ -51104,15 +51104,15 @@ "PIH1 domain-containing protein 2" "endometrium adenocarcinoma" "single cell information" - "obsolete_response to triptolide" "chromosome 1q21.1 duplication syndrome" + "obsolete_response to triptolide" "smad1" "infantile epilepsy syndrome" "stomatal complex" "U1 small nuclear ribonucleoprotein A measurement" "CS57908" - "COV413A" "X-21845 measurement" + "COV413A" "pulmonary alveolar type 2 cell" "obsolete_acrocephalosyndactylia" "obsolete_endocardium" @@ -51139,8 +51139,8 @@ "SKUT1" "obsolete_Verloove Vanhorick-Brubakk syndrome" "obsolete_distal 17p13.1 microdeletion syndrome" - "X-11786--methylcysteine measurement" "disseminated candidiasis" + "X-11786--methylcysteine measurement" "congenital anomaly of the great arteries" "Safe-SeqS" "spinal muscular atrophy, type IV" @@ -51211,8 +51211,8 @@ "epididymal-specific lipocalin-8" "obsolete_partial duplication of chromosome 2" "partial deletion of the long arm of chromosome 3" - "501A" "endocrine tuberculosis" + "501A" "level of Phosphatidylcholine (14:0_18:1) in blood serum" "glomerular parietal epithelium" "level of AP-1 complex-associated regulatory protein in blood serum" @@ -51290,8 +51290,8 @@ "obsolete_familial melanoma" "level of cyanocobalamin reductase / alkylcobalamin dealkylase in blood serum" "Gossypium darwinii" - "autoimmune optic neuritis" "heart relative wall thickness" + "autoimmune optic neuritis" "basal cell adhesion molecule measurement" "obsolete_IRVAN syndrome" "KxDL motif-containing protein 1" @@ -51302,10 +51302,10 @@ "level of neuropilin-2 in blood serum" "hypogonadotropic hypogonadism 3 with or without anosmia" "empyema" + "obsolete_cystic fibrosis" "hand, foot and mouth disease" "Granulomatosis with Polyangiitis" "mitochondrial complex V (ATP synthase) deficiency nuclear type 4B" - "obsolete_cystic fibrosis" "Pneumocephalus" "protein disulfide-isomerase A5 measurement" "obsolete_infantile onset spinocerebellar ataxia" @@ -51348,8 +51348,8 @@ "cercarium" "syndromic oculocutaneous albinism" "level of proteasome subunit beta type-5 in blood serum" - "distal lower limb amyotrophy" "Agrobacterium larrymoorei" + "distal lower limb amyotrophy" "TAR DNA-binding protein 43" "ectonucleotide pyrophosphatase/phosphodiesterase family member 2" "Parkinson disease 5, autosomal dominant, susceptibility to" @@ -51440,8 +51440,8 @@ "level of 39S ribosomal protein L1, mitochondrial in blood serum" "ventricular septal defect" "Jeune syndrome" - "X-17351 measurement" "X-linked intellectual disability - ataxia - apraxia" + "X-17351 measurement" "obsolete_Senior-Loken syndrome" "interleukin-17 receptor D measurement" "Abnormality of the anterior fontanelle" @@ -51458,15 +51458,15 @@ "liposarcoma of the ovary" "D341Med" "tenosynovitis" - "level of histo-blood group ABO system transferase in blood serum" "hepatitis D virus infection" + "level of histo-blood group ABO system transferase in blood serum" "SKMEL3" "pulmonary hypertension, primary, 1" "skeletal dysplasia-epilepsy-short stature syndrome" "lice infestation" "sphenoid bone" - "polyendocrinopathy" "cancer antigen 19.9 measurement"@en + "polyendocrinopathy" "autosomal recessive limb-girdle muscular dystrophy type 2K" "obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase" "cerebral peduncle" @@ -51481,10 +51481,10 @@ "ADP-ribosylation factor-like protein 1 measurement" "thin ribs-tubular bones-dysmorphism syndrome" "zinc finger protein 415 measurement" + "obsolete_Weill-Marchesani syndrome" "level of hemoglobin subunit gamma-2 in blood serum" "extrahepatic bile duct rhabdomyosarcoma" "level of calsenilin in blood serum" - "obsolete_Weill-Marchesani syndrome" "amisulpride" "obsolete_slow muscle cell somite 1" "level of AN1-type zinc finger protein 1 in blood serum" @@ -51534,8 +51534,8 @@ "neoplasm of oropharynx" "CD16-positive myeloid dendritic cell" "inverted transitional cell papilloma" - "level of prostasin in blood serum" "secretoglobin family 1D member 1" + "level of prostasin in blood serum" "Oy-0" "bacillaceae seropositivity" "lymphocyte" @@ -51582,9 +51582,9 @@ "Goniodysgenesis" "level of Phosphatidylcholine (18:0_20:3) in blood serum" "sodium/potassium-transporting ATPase subunit gamma" - "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" "level of Tax1-binding protein 1 in blood serum" "spindle" + "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" "obsolete_qualitative or quantitative defects of alpha-sarcoglycan" "cell barcode read" "imidazolium cation" @@ -51608,9 +51608,9 @@ "threonine" "dysplastic oral keratinocyte" "mRNA turnover protein 4" + "iPS-11a" "Impaired epinephrine-induced platelet aggregation" "eye" - "iPS-11a" "tooth agenesis, selective, 4" "SK-N-DZ" "ADP-ribosylation factor-like protein 3 measurement" @@ -51621,16 +51621,16 @@ "histone H2A.Z measurement" "C-C motif chemokine 1 measurement" "vitamin B12-unresponsive methylmalonic acidemia type mut0" + "differentiated thyroid carcinoma" "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy" "obsolete_small intestine primordium" "myelin maintenance" "level of Janus kinase and microtubule-interacting protein 3 in blood serum" - "differentiated thyroid carcinoma" "granulomatous dermatitis" "MC-1" "tissue factor pathway inhibitor measurement" - "Steel syndrome" "chronic cholangitis" + "Steel syndrome" "Triticum durum" "Charcot-Marie-Tooth Disease, axonal, type 2GG" "Bruton-type agammaglobulinemia" @@ -51749,8 +51749,8 @@ "premature ovarian failure 12" "fatty acid-binding protein 9" "obsolete_tarsal-carpal coalition syndrome" - "level of serine--tRNA ligase, cytoplasmic in blood serum" "X-12728 measurement" + "level of serine--tRNA ligase, cytoplasmic in blood serum" "L3055" "SK-N-BE(2) cell" "retinal cone cell" @@ -51840,8 +51840,8 @@ "Clostridium sporogenes" "congenital heart defects, multiple types, 7" "YMB-1" - "obsolete_Catecholaminergic polymorphic ventricular tachycardia" "Osteoporosis" + "obsolete_Catecholaminergic polymorphic ventricular tachycardia" "cell barcode size" "Trichomonas cystitis" "squamous cell carcinoma of floor of mouth" @@ -51853,9 +51853,9 @@ "familial hypercholesterolemia" "sensorineural hearing loss-early graying-essential tremor syndrome" "obsolete_beta-thalassemia and related diseases" - "fibroepithelial polyp of the anus" "acute myeloid leukemia, t(7;12)(q36;p13)" "Locusta migratoria manilensis" + "fibroepithelial polyp of the anus" "P-Selectin measurement" "level of segment polarity protein dishevelled homolog DVL-2 in blood serum" "multiple epiphyseal dysplasia, Lowry type" @@ -51882,8 +51882,8 @@ "Polysphondylium pallidum" "level of protocadherin gamma-A10 in blood serum" "acute myeloid leukemia, MLL gene rearrangement" - "ethionamide" "dermokine" + "ethionamide" "ubiquitin carboxyl-terminal hydrolase 46" "Pfeiffer" "Delpire-McNeill syndrome" @@ -51951,8 +51951,8 @@ "level of solute carrier family 35 member G2 in blood serum" "conidium" "obsolete egg allergy" - "obsolete_response to alcohol" "obsolete_orofacial clefting syndrome" + "obsolete_response to alcohol" "maturity-onset diabetes of the young type 4" "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome" "glyoxylate reductase/hydroxypyruvate reductase" @@ -52058,8 +52058,8 @@ "lower limb hypertrophy" "myelin protein zero-like protein 1" "acute cor pulmonale" - "diacylglycerol 44:7 measurement" "Glomus Jugulare Tumor" + "diacylglycerol 44:7 measurement" "3 hr schistosomulum" "level of proteasome subunit beta type-6 in blood serum" "CD166 antigen measurement" @@ -52196,11 +52196,11 @@ "ectonucleotide pyrophosphatase/phosphodiesterase family member 5" "obsolete_individual genetic characteristic" "HG03571" + "Disease with potential neoplastic degeneration associated with ocular features" "split-foot malformation-mesoaxial polydactyly syndrome" "level of serine protease 57 in blood serum" - "Disease with potential neoplastic degeneration associated with ocular features" - "tripartite motif-containing protein 72" "Nossen ecotype" + "tripartite motif-containing protein 72" "intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome" "obsolete_pyloric antrum" "kynurenine--oxoglutarate transaminase 1" @@ -52211,9 +52211,9 @@ "malignant pleural solitary fibrous tumor" "central neurocytoma" "Osteopetrosis" + "Calvarial doughnut lesions - bone fragility" "isolated noncompaction of the ventricular myocardium" "DnaJ homolog subfamily C member 30 measurement" - "Calvarial doughnut lesions - bone fragility" "complement factor H-related protein 5 measurement" "level of protein-tyrosine sulfotransferase 2 in blood serum" "prostate derived cell line" @@ -52332,10 +52332,10 @@ "H157" "methylation profiling" "type III endosome membrane protein TEMP" + "Genetic tumor of hematopoietic and lymphoid tissues" "5-methyluridine (ribothymidine) measurement"@en "hypomyelinating leukodystrophy 4" "lambda-crystallin" - "Genetic tumor of hematopoietic and lymphoid tissues" "5'-Deoxy-5'-(methylthio) adenosine measurement" "blood cytosine measurement" "level of retinoid-binding protein 7 in blood serum" @@ -52479,8 +52479,8 @@ "Autosomal recessive spastic paraplegia type 54" "obsolete_autosomal dominant non-syndromic intellectual disability" "Cecum Neuroendocrine Tumor G1" - "acne inversa, familial, 3" "oxidized low-density lipoprotein receptor 1 measurement" + "acne inversa, familial, 3" "Hypofibrinogenemia" "mucopolysaccharidosis type 6" "peritoneal neoplasm" @@ -52518,11 +52518,11 @@ "meningioma" "response to antipsychotic drug" "Say-field-Coldwell syndrome" - "Alpha-Ketoglutaric Acid" "myotonia fluctuans" + "Alpha-Ketoglutaric Acid" + "level of exosome complex component RRP40 in blood serum" "obsolete Okamoto syndrome" "GM17733" - "level of exosome complex component RRP40 in blood serum" "cryptomicrotia-brachydactyly-excess fingertip arch syndrome" "Central polydactyly of toes, bilateral" "N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase" @@ -52579,8 +52579,8 @@ "endometrial stromal sarcoma" "josephin-1" "Benign Smooth Muscle Neoplasm" - "level of interleukin-23 receptor in blood serum" "Charcot-Marie-Tooth disease type 2D" + "level of interleukin-23 receptor in blood serum" "Lactobacillus paracasei" "Duchenne and Becker muscular dystrophy" "supraglottis neoplasm" @@ -52589,8 +52589,8 @@ "Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities" "ectrodactyly and ectodermal dysplasia without cleft lip/palate" "level of semaphorin-3B in blood serum" - "Familial partial lipodystrophy due to AKT2 mutations" "EF-hand domain-containing protein D1" + "Familial partial lipodystrophy due to AKT2 mutations" "acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive" "Prolonged PR interval" "level of transcription factor SOX-6 in blood serum" @@ -52923,10 +52923,10 @@ "mitogen-activated protein kinase kinase kinase 7:tgf-beta-activated kinase 1 and map3k7-binding protein 1 fusion measurement" "9-cis-retinoic acid" "obsolete_pancreatic duct epithelium" + "cAMP-regulated phosphoprotein 21 measurement" "renin measurement"@en "distal myopathy with posterior leg and anterior hand involvement" "dopa-responsive dystonia due to sepiapterin reductase deficiency" - "cAMP-regulated phosphoprotein 21 measurement" "mild hemophilia B" "obsolete_idiopathic juvenile osteoporosis" "PRPS1 deficiency disorder" @@ -52937,8 +52937,8 @@ "anti-arrhythmia drug" "inborn disorder of purine metabolism" "hippocalcin-like protein 1" - "NHL repeat-containing protein 2" "FDCP-1" + "NHL repeat-containing protein 2" "VIP-Producing Neuroendocrine Tumor" "N-acetylated-alpha-linked acidic dipeptidase 2" "N-stearoyl-sphinganine (d18:0/18:0) measurement" @@ -52946,8 +52946,8 @@ "Spartina alterniflora" "severe malarial anemia"@en "Brain atrophy" - "level of reticulophagy regulator 1 in blood serum" "obsolete_disorder of glycolysis" + "level of reticulophagy regulator 1 in blood serum" "drug" "obsolete_FGFR3-related chondrodysplasia" "level of PDZ and LIM domain protein 1 in blood serum" @@ -52979,8 +52979,8 @@ "level of uncharacterized protein CXorf38 in blood serum" "spastic paraplegia 83, autosomal recessive" "UV-C light regimen" - "UDP-N-acetylhexosamine pyrophosphorylase measurement" "tomatidine" + "UDP-N-acetylhexosamine pyrophosphorylase measurement" "neonatal Marfan syndrome" "t-cell surface glycoprotein CD3 gamma chain measurement" "level of UPF0606 protein KIAA1549L (human) in blood serum" @@ -53041,8 +53041,8 @@ "lysosomal glycogen storage disease" "ciliary dyskinesia, primary, 43" "craniofrontonasal dysplasia-Poland anomaly syndrome" - "azurocidin measurement" "orbit embryonal rhabdomyosarcoma" + "azurocidin measurement" "1-docosahexaenoylglycerol (22:6) measurement" "retinol measurement" "lysophosphatidylcholine 19:0 measurement" @@ -53125,11 +53125,11 @@ "heart-hand syndrome, Slovenian type" "homostachydrine measurement" "brachydactyly of toes, unilateral" - "methionine sulfone measurement" "sorting nexin-4 measurement" "infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome" - "level of peroxynitrite isomerase THAP4 in blood serum" "Charcot-Marie-Tooth disease type 2B5" + "methionine sulfone measurement" + "level of peroxynitrite isomerase THAP4 in blood serum" "recurrent infections associated with rare immunoglobulin isotypes deficiency" "level of caveolae-associated protein 1 in blood serum" "CUGBP Elav-like family member 2" @@ -53185,8 +53185,8 @@ "X-22162 measurement" "fallopian tube mucinous adenocarcinoma" "CB4855" - "B6.H2_g7" "Cecum Villous Adenoma" + "B6.H2_g7" "protein MENT measurement" "cosyntropin" "Sjögren-Larsson syndrome" @@ -53403,8 +53403,8 @@ "baculoviral IAP repeat-containing protein 7" "obsolete_Hermansky-Pudlak syndrome with pulmonary fibrosis" "lentiform nucleus measurement" - "Rho GTPase-activating protein 45" "Late-onset ataxia with dementia" + "Rho GTPase-activating protein 45" "sciatic neuropathy" "MLS 402-91" "aldosterone secretion" @@ -53520,9 +53520,9 @@ "disorder of mineral absorption and transport" "LAPC-4" "programmed cell death protein 4" - "obsolete_vitamin B12-unresponsive methylmalonic acidemia type mut-" "level of Rab GDP dissociation inhibitor alpha in blood serum" "body height" + "obsolete_vitamin B12-unresponsive methylmalonic acidemia type mut-" "obsolete_CHIME syndrome" "insect ventral epidermis primordium" "growth delay due to insulin-like growth factor type 1 deficiency" @@ -53582,8 +53582,8 @@ "autosomal recessive proximal renal tubular acidosis" "TBC1 domain family member 24" "myxoma" - "Type 2 collagen-related bone disorder" "prolyl endopeptidase" + "Type 2 collagen-related bone disorder" "sunitinib" "bilateral polymicrogyria" "Geospiza fortis" @@ -53668,8 +53668,8 @@ "congenital enteropathy due to enteropeptidase deficiency" "free stigmasterol measurement"@en "Burkholderia mallei" - "obsolete_retroperitoneum" "pituitary-dependent Cushing's disease" + "obsolete_retroperitoneum" "B-cell receptor CD22 measurement" "level of KH domain-containing, RNA-binding, signal transduction-associated protein 2 in blood serum" "obsolete_alpha-N-acetylgalactosaminidase deficiency type 2" @@ -53773,8 +53773,8 @@ "Hermansky-Pudlak syndrome type 7" "Ankyloblepharon filiforme - imperforate anus" "N1-methylinosine measurement" - "iatrogenic" "screening library" + "iatrogenic" "N-2-furoylglycine measurement" "cervical lymphadenitis" "pseudodiastrophic dysplasia" @@ -53812,10 +53812,10 @@ "hTERT-HM" "immature platelet count" "level of cysteine-rich protein 2 in blood serum" - "obsolete_ring chromosome 7" "sulfide:quinone oxidoreductase activity" "chronic maxillary sinusitis" "brachydactyly of toes, bilateral" + "obsolete_ring chromosome 7" "transcription elongation factor A protein-like 1" "epithelial cell of pancreas" "keratocan" @@ -53844,8 +53844,8 @@ "fungal/metazoan cullin-1" "zinc finger and BTB domain-containing protein 10" "Rare disease with dentinogenesis imperfecta" - "level of cytochrome b5 reductase 4 in blood serum" "digital anomalies-intellectual disability-short stature syndrome" + "level of cytochrome b5 reductase 4 in blood serum" "cataract 38" "troponin T, cardiac muscle" "histamine antagonist" @@ -53916,9 +53916,9 @@ "short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome" "progressive bulbar palsy of childhood" "obsolete_rosette leaf" - "BICD family-like cargo adapter 1" "level of glycerophosphocholine phosphodiesterase GPCPD1 in blood serum" "milligram per kilogram per day" + "BICD family-like cargo adapter 1" "cutaneous melanoma" "intraocular pressure measurement" "level of importin subunit alpha-5 in blood serum" @@ -53956,8 +53956,8 @@ "Prader-Willi-like syndrome due to point mutation" "Vogt-Koyanagi-Harada disease" "protein FAM171A1" - "obsolete_Carbamoyl-phosphate synthase deficiency" "lymphocyte measurement" + "obsolete_Carbamoyl-phosphate synthase deficiency" "CUB domain containing protein 1 measurement" "obsolete_branchiostegal ray 3" "DNA-directed RNA polymerase III subunit RPC6" @@ -54026,16 +54026,16 @@ "CE(14:1(9Z))" "Daudi" "benign neoplasm of minor salivary gland" + "obsolete_disease predisposing to age-related macular degeneration" "obsolete_autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" + "ankyrin repeat domain-containing protein 27 measurement" "ethylmalonic encephalopathy" "EBC-1" "SNU182" "Autosomal recessive spastic paraplegia type 75" - "ankyrin repeat domain-containing protein 27 measurement" "glypican-1" "familial isolated arrhythmogenic ventricular dysplasia, right dominant form" "Miyoshi muscular dystrophy 1" - "obsolete_disease predisposing to age-related macular degeneration" "Abnormality of the upper limb" "syntaxin-10 measurement" "cancer pain"@en @@ -54070,12 +54070,12 @@ "Lethal arthrogryposis - anterior horn cell disease" "dyskeratosis congenita, autosomal dominant 2" "obsolete_metabolite" - "B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio" "G0/G1 switch protein 2" "malignant teratoma" "espin" "embryonic day 15.5" "Ziegler-Huang syndrome" + "B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio" "Geobacter sulfurreducens PCA" "Hyperphenylalaninemia" "placenta growth factor measurement"@en @@ -54140,17 +54140,17 @@ "stanniocalcin-2 measurement" "peroxidasin" "peptidyl-prolyl cis-trans isomerase NIMA-interacting 4" - "obsolete_congenital muscular dystrophy with intellectual disability and severe epilepsy" "platelet larger cell ratio" "renal agenesis, unilateral" "right ventricular function"@en "acute endophthalmitis" + "obsolete_congenital muscular dystrophy with intellectual disability and severe epilepsy" "negative regulation of wound healing" "level of tRNA (adenine-N(1)-)-methyltransferase non-catalytic subunit TRM6 in blood serum" "age of onset of type 1 diabetes mellitus" "obsolete_qualitative or quantitative defects of protein O-mannosyltransferase 1" - "obsolete_limb-mammary syndrome" "doxycycline" + "obsolete_limb-mammary syndrome" "ectropion" "COL4A1-related disorder" "SPONASTRIME dysplasia" @@ -54162,8 +54162,8 @@ "level of peflin in blood serum" "collagen alpha-1(XIII) chain" "FISSEQ" - "X-05907 measurement" "level of NAD-dependent protein deacetylase sirtuin-3, mitochondrial in blood serum" + "X-05907 measurement" "cysteine-rich protein 1" "free cholesterol in small HDL measurement " "emphysema pattern measurement" @@ -54184,8 +54184,8 @@ "heat shock protein 105 kDa" "level of CD72 molecule in blood serum" "level of coxsackievirus and adenovirus receptor in blood serum" - "suicide behaviour measurement" "tumor of adipose tissue" + "suicide behaviour measurement" "transvaginal ultrasound-guided oocyte retrieval" "Dickkopf-related protein 3 measurement" "trans-4-hydroxyproline measurement" @@ -54280,18 +54280,18 @@ "obsolete_adenine phosphoribosyltransferase deficiency" "Central nervous system calcification - deafness - tubular acidosis - anemia" "obsolete_oculocutaneous or ocular albinism" - "obsolete_12p12.1 microdeletion syndrome" "supramarginal gyrus volume measurement"@en - "C18:1 carnitine measurement" + "obsolete_12p12.1 microdeletion syndrome" "trichoodontoonychial dysplasia" + "C18:1 carnitine measurement" "level of ADP-ribosylation factor-like protein 11 in blood serum" "obsolete_parotid gland" "obsolete_Naegeli-Franceschetti-Jadassohn syndrome" "carbohydrate sulfotransferase 14 measurement" - "secreted frizzled-related protein 1 measurement" "pappalysin‐1 measurement"@en - "obsolete_response to high-dose melphalan" + "secreted frizzled-related protein 1 measurement" "scrotal carcinoma" + "obsolete_response to high-dose melphalan" "basal endosperm transfer layer" "cobalamin transport" "Macaca radiata" @@ -54310,8 +54310,8 @@ "obsolete_oculocutaneous albinism type 5" "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome" "3-hydroxyisobutyric aciduria" - "Cyanophage S-BnM1" "obsolete_carpotarsal osteochondromatosis" + "Cyanophage S-BnM1" "Vulvar Squamous Cell Carcinoma" "3beta,7alpha-dihydroxy-5-cholestenoate measurement" "obsolete_Joubert syndrome" @@ -54321,10 +54321,10 @@ "diazepam" "trichorhinophalangeal syndrome type I or III" "1p36 deletion syndrome" + "blood phosphate measurement" "Dicentrarchus labrax" "desmoplastic melanoma" "brachial nerve plexus" - "blood phosphate measurement" "Usmani-Riazuddin syndrome, autosomal dominant" "level of CYFIP-related Rac1 interactor A in blood serum" "X-14056 measurement" @@ -54357,8 +54357,8 @@ "CS57740" "level of lymphocyte antigen 6 complex locus protein G6d in blood serum" "obsolete_X-linked spondyloepimetaphyseal dysplasia" - "placental site trophoblastic tumor" "nuclear factor erythroid 2-related factor 2" + "placental site trophoblastic tumor" "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis" "obsolete_alpha-N-acetylgalactosaminidase deficiency type 3" "15q11q13 microduplication syndrome" @@ -54388,8 +54388,8 @@ "Poly(A)-ClickSeq" "GM17818" "chordotonal organ" - "GM17740" "25-hydroxyvitamin D2 measurement" + "GM17740" "matrix metalloproteinase 1 measurement"@en "BRCA2 and CDKN1A-interacting protein" "disorder of copper metabolism" @@ -54403,10 +54403,10 @@ "2q33.1 microdeletion syndrome" "level of hematopoietic lineage cell-specific protein in blood serum" "bactericidal permeability-increasing protein measurement" + "obsolete_microcephalic primordial dwarfism due to ZNF335 deficiency" "lysophosphatidylcholine acyl C16:0 measurement" "level of basic leucine zipper transcriptional factor ATF-like 3 in blood serum" "acne inversa, familial, 1" - "obsolete_microcephalic primordial dwarfism due to ZNF335 deficiency" "hemimegalencephaly" "injury" "Fusion-seq" @@ -54427,8 +54427,8 @@ "obsolete periodic paralysis with transient compartment-like syndrome" "Congenital absence of upper arm and forearm with hand present, bilateral" "cerebral arterial disease" - "GM17190" "n-lysine methyltransferase SMYD2 measurement" + "GM17190" "obsolete_presumptive rhombomere 4" "amelanotic skin melanoma" "level of keratin, type I cytoskeletal 19 in blood serum" @@ -54454,13 +54454,13 @@ "Hemoglobin A2 to Total Hemoglobin Ratio Measurement" "Ocular Melanoma" "Bifidobacterium longum" - "childhood brainstem astrocytoma" "bacteroidales seropositivity" + "protein transport protein Sec61 subunit gamma measurement" + "childhood brainstem astrocytoma" + "leukocyte esterase measurement" "Abnormality of the dentition" "Kn-0" - "protein transport protein Sec61 subunit gamma measurement" "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" - "leukocyte esterase measurement" "partial deletion of the long arm of chromosome X" "infiltrating urothelial carcinoma" "choroid mixed cell melanoma" @@ -54496,14 +54496,14 @@ "piperine measurement" "symbrachydactyly of hand and foot, unilateral" "green house study" - "46,XX disorder of sex development-skeletal anomalies syndrome" "5q14.3 microdeletion syndrome" + "46,XX disorder of sex development-skeletal anomalies syndrome" "DYRK1A-related intellectual disability syndrome" "generalized anxiety disorder" "level of PDZ and LIM domain protein 5 in blood serum" "NCI-H2803" - "nephrolithiasis" "Abnormal frontal bone morphology" + "nephrolithiasis" "Secondary glaucoma due to a proliferation and differentiation anomaly" "technician" "acquired pituitary hormone deficiency" @@ -54553,16 +54553,16 @@ "zebra body myopathy" "proline-rich AKT1 substrate 1" "obsolete_Megacystis-microcolon-intestinal hypoperistalsis syndrome" - "X-linked Mendelian susceptibility to mycobacterial diseases" "pemphigoid gestationis" + "X-linked Mendelian susceptibility to mycobacterial diseases" "Hypomyelination neuropathy - arthrogryposis" "4-acetamidobutanoate-to-X-03056--N-[3-(2-Oxopyrrolidin-1-yl)propyl]acetamide ratio" "mixed sex population" "craniosynostosis syndrome, autosomal recessive" "NKG2-F type II integral membrane protein" - "obsolete_hypomyelination with brain stem and spinal cord involvement and leg spasticity" "obsolete_partial duplication of the long arm of chromosome 1" "fallopian tube adenocarcinoma" + "obsolete_hypomyelination with brain stem and spinal cord involvement and leg spasticity" "Bardet-Biedl syndrome 9" "CB4857" "NOD.B10" @@ -54584,8 +54584,8 @@ "Abnormality of the adrenal glands" "pulmonary subvalvular stenosis" "pseudohypoaldosteronism type 2" - "BAC1.2F5" "Enterobacteriaceae Infections" + "BAC1.2F5" "level of dorsal root ganglia homeobox protein in blood serum" "PALB2-related cancer predisposition" "level of muscleblind-like protein 2 in blood serum" @@ -54595,8 +54595,8 @@ "programmed cell death 1 ligand 2 measurement" "Hemoglobin Barts to Total Hemoglobin Ratio Measurement" "echinococcosis" - "level of 40S ribosomal protein S25 in blood serum" "magnesium sulfate" + "level of 40S ribosomal protein S25 in blood serum" "calcareous tooth" "obsolete_pulmonary alveolus" "hepcidin:transferrin saturation ratio" @@ -54755,9 +54755,9 @@ "X-12026 measurement" "level of Phosphatidylethanolamine (16:0_18:2) in blood serum" "obsolete_Smith-Lemli-Opitz syndrome" + "Arginine:glycine amidinotransferase deficiency" "Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell" "obsolete_typical nemaline myopathy" - "Arginine:glycine amidinotransferase deficiency" "level of beta-tectorin in blood serum" "SLIT and NTRK-like protein 3 measurement" "arm span" @@ -54829,8 +54829,8 @@ "obsolete_nerve cell" "obsolete cerebellar malformation" "age at initiation of smoking"@en - "level of E3 ubiquitin-protein ligase pellino homolog 2 in blood serum" "perineum" + "level of E3 ubiquitin-protein ligase pellino homolog 2 in blood serum" "protocadherin beta-1 measurement" "ciliary dyskinesia, primary, 39" "obsolete_bipartite talus" @@ -54865,9 +54865,9 @@ "renal hypoplasia" "humero-radial synostosis, unilateral" "obsolete_partial duplication of chromosome 8" - "amp kinase (alpha1beta1gamma1) measurement" "infratentorial cancer" "age of onset of type 2 diabetes mellitus" + "amp kinase (alpha1beta1gamma1) measurement" "picolinate measurement" "junctional epidermolysis bullosa with pyloric atresia" "receptive language perception" @@ -54916,8 +54916,8 @@ "familial hyperlipidemia" "influenza B seropositivity" "phosphatidylcholine diacyl C32:2 measurement" - "arachidonoylcarnitine (C20:4) measurement" "obsolete_ileum" + "arachidonoylcarnitine (C20:4) measurement" "dipetalonemiasis" "triacylglycerol 52:5 measurement"@en "white wine liking measurement" @@ -55032,8 +55032,8 @@ "ribose phosphate diphosphokinase activity" "regulation of RNA splicing" "obsolete_dentinogenesis imperfecta type 2" - "Lactobacillus johnsonii" "obsolete_qualitative or quantitative defects of dysferlin" + "Lactobacillus johnsonii" "Warthin Tumor" "level of complement C1q tumor necrosis factor-related protein 5 in blood serum" "glutamate receptor ionotropic, delta-2" @@ -55153,10 +55153,10 @@ "GM17193" "neurodevelopmental disorder with hypotonia and gross motor and speech delay" "Anti-Helicobacter pylori IgG measurement" - "level of keratin, type I cytoskeletal 20 in blood serum" "MKN7" - "Cortical tubers" + "level of keratin, type I cytoskeletal 20 in blood serum" "alkylating agent" + "Cortical tubers" "obsolete_bilateral frontoparietal polymicrogyria" "level of kinetochore protein NDC80 in blood serum" "encephalopathy due to hydroxykynureninuria" @@ -55202,9 +55202,9 @@ "Primary Effusion Lymphoma" "bifunctional coenzyme A synthase" "ADP-ribosylation factor-like protein 5A" + "Laryngeal Small Cell Carcinoma" "Severe hydrocephalus" "blood manganese measurement" - "Laryngeal Small Cell Carcinoma" "leaf" "AB SOLiD 4hq System" "obsolete_Angelman syndrome due to maternal 15q11q13 deletion" @@ -55224,9 +55224,9 @@ "obsolete_Caffey disease" "prostate gland cancer cell" "eukaryotic translation initiation factor 1A, X-chromosomal" - "Rare disease with glaucoma as a major feature" "actin-related protein 2/3 complex subunit 3 measurement" "ventral tegmental area" + "Rare disease with glaucoma as a major feature" "membrane-enclosed lumen" "level of gamma-glutamylcyclotransferase in blood serum" "pseudokinase FAM20A" @@ -55270,8 +55270,8 @@ "magnesium:calcium ratio" "hyaluronan and proteoglycan link protein 1 measurement" "hereditary hyperparathyroidism" - "isolated congenital megalocornea" "Gamma-aminobutyric acid transaminase deficiency" + "isolated congenital megalocornea" "ladinin-1" "antiviral innate immune response receptor RIG-I" "overnutrition" @@ -55284,13 +55284,13 @@ "SK-UT-2 " "NOD.B6" "oophoritis" - "citrate synthase, mitochondrial" "2-aminooctanoate measurement" + "citrate synthase, mitochondrial" + "blood N-acetylcarnosine measurement" "Adipic acid measurement" "dentatorubral-pallidoluysian atrophy" - "blood N-acetylcarnosine measurement" - "SK-MEL-24" "C57BL/6NCrl" + "SK-MEL-24" "Crimean-Congo hemorrhagic fever virus" "phagocyte bactericidal dysfunction" "level of calcipressin-3 in blood serum" @@ -55359,10 +55359,10 @@ "level of metabotropic glutamate receptor 4 in blood serum" "CXCL10 measurement" "obsolete_intersegmental vessel" - "quinate measurement" "7q11.23 microduplication syndrome" - "RIP-Chip by array" + "quinate measurement" "intercostal muscle" + "RIP-Chip by array" "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" "ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome" "corneal endothelium" @@ -55396,8 +55396,8 @@ "level of mitochondrial import inner membrane translocase subunit Tim8 A in blood serum" "level of securin in blood serum" "phosphatidylcholine O-36:5" - "Tyrosinemia type 1" "protein FAM163B" + "Tyrosinemia type 1" "N-acetyl-L-tryptophan" "obsolete_Cockayne syndrome type 2" "congenital dyserythropoietic anemia type 3" @@ -56383,15 +56383,15 @@ "Horton’s disease" "cranial arteritis" "Horton's temporal arteritis" + "IV" + "Isoleucyl-Valine" + "isoleucylvaline" + "L-Ile-L-Val" "IMMUNODEFICIENCY 69" "Immunodeficiency 69, Mycobacteriosis, Autosomal Recessive" "IMD69" "Ifng Deficiency, Autosomal Recessive" "cell organization and biogenesis" - "IV" - "Isoleucyl-Valine" - "isoleucylvaline" - "L-Ile-L-Val" "ACPP" "Abnormal liver function tests during pregnancy, resolves postpartum" "7-methyltheophylline" @@ -58196,13 +58196,13 @@ "arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities" "arthrogryposis multiplex congenita, distal, type 2B" "oxylipins" - "RUIJS-Aalfs syndrome" - "RJALS" "4-HPB" "Betuligenol" "Rhododendrol" "amyotrophy, thenar, of carpal origin" "CTS" + "RUIJS-Aalfs syndrome" + "RJALS" "Bet" "acidol" "Trimethylammonioacetate" @@ -58638,6 +58638,7 @@ "HFS" "hyalinosis, systemic" "infantile systemic hyalinosis (former subtype)" + "empty sella turcica" "Neurocaine" "l-Cocain" "l-cocaine" @@ -58652,7 +58653,6 @@ "beta-Cocain" "Cocain" "methyl [1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate" - "empty sella turcica" "Hopp syndrome" "DEDSM" "disorder of vestibular system" @@ -58746,10 +58746,10 @@ "prothrombin deficiency, congenital" "cloverleaf skull and asphyxiating thoracic dysplasia" "Benallegue Lacete syndrome" + "inflammatory rheumatism" "autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia" "Dermatoosteolysis Kirghizian type" "Kirghizian Dermatoosteolysis" - "inflammatory rheumatism" "PARK13" "susceptibility to autosomal dominant Parkinson disease 13" "MIMIS" @@ -60618,10 +60618,6 @@ "Thrombocytopathy asplenia miosis" "STRMK" "Stormorken-Sjaastad-Langslet syndrome" - "pain, nerve" - "pain, neuropathic" - "paroxysmal nerve pains" - "paroxysmal nerve pain" "thyroid gland follicular adenoma of oxyphilic cell type" "thyroid oncocytic adenoma" "oncocytic adenoma of the thyroid gland" @@ -60647,6 +60643,10 @@ "follicular adenoma of the thyroid gland of the oxyphilic cell type" "benign oncocytoma of thyroid gland" "benign thyroid gland oncocytoma" + "pain, nerve" + "pain, neuropathic" + "paroxysmal nerve pains" + "paroxysmal nerve pain" "octanedioate(2-)" "suberate" "C8-DCA(2-)" @@ -60710,8 +60710,8 @@ "4H syndrome" "hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome" "P1 MalTB" - "cerebral astrocytoma, childhood" "endometrial squamous cell carcinoma" + "cerebral astrocytoma, childhood" "vitreoretinochoroidopathy dominant" "vitreoretinochoroidopathy, autosomal dominant" "VRCP" @@ -61329,6 +61329,8 @@ "KLEFS2" "familial Felty's syndrome" "rheumatoid arthritis, splenomegaly and neutropenia" + "sialuria, Finnish type" + "SD" "tyrosinemia type 2" "tyrosine aminotransferase deficiency" "tyrosine transaminase deficiency" @@ -61341,8 +61343,6 @@ "Tat deficiency" "Oregon type tyrosinemia" "Tyrosinosis, oculocutaneous type" - "sialuria, Finnish type" - "SD" "Elafax" "venlafaxinum" "venlafaxina" @@ -66594,24 +66594,24 @@ "PBS" "CD3epsilon T cell" "establishment of cellular localization" + "Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11" + "MDDGA11" "spastic ataxia, Charlevoix-Saguenay type" "spastic ataxia of Charlevoix-Saguenay" "spastic ataxia Charlevoix-Saguenay type" "autosomal recessive spastic ataxia of Charlevoix-Saguenay" "spastic ataxia 6, autosomal recessive" "sacs" - "Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related" - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11" - "MDDGA11" "thymic neoplasia" "PSAB" "drug addiction, susceptibility to" "BL" - "Joubert syndrome 4" - "Joubert syndrome with renal anomalies" "RDS - infants" "NRDS" "respiratory distress syndrome, infant" + "Joubert syndrome 4" + "Joubert syndrome with renal anomalies" "thrombocytosis" "bone density conservation drug" "anti-osteopenia agents" @@ -68567,8 +68567,8 @@ "molybdenum cofactor deficiency, complementation group A" "molybdenum cofactor deficiency type A" "sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of" - "islets of Langerhans part of pancreas" "endocrine part of pancreas" + "islets of Langerhans part of pancreas" "BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome" "NDGOA" "SPG79" @@ -69759,8 +69759,8 @@ "vitamina" "vitaminum" "vitamins" - "vitamine" "vitamines" + "vitamine" "vitaminas" "vitamin" "autosomal recessive cutis laxa type IIIB" @@ -70778,13 +70778,13 @@ "Prn1" "thyroid carcinoma, papillary, with papillary renal neoplasia" "Ptcprn" + "familial primary biliary cirrhosis" + "biliary cirrhosis, primary" "insulin-resistant acanthosis nigricans, type A" "diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a" "insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans" "diabetes mellitus, insulin-resistant, with acanthosis nigricans" "Iran, type a" - "familial primary biliary cirrhosis" - "biliary cirrhosis, primary" "SMITH-McCort dysplasia 1" "Smc1" "SMC" @@ -71281,14 +71281,14 @@ "chromosome XXXXX syndrome" "penta-X syndrome" "hepato-renal syndrome" + "head neural crest" + "crista neuralis cranialis" + "head crest" "Palatodigital syndrome Catel-Manzke type" "Catel Manzke syndrome" "CATMANS" "Pierre Robin syndrome with hyperphalangy and clinodactyly" "index finger anomaly with Pierre Robin syndrome" - "head neural crest" - "crista neuralis cranialis" - "head crest" "sickle cell - haemoglobin C disease" "sickle cell - hemoglobin C disease" "Phosphorothioic acid, O,O-diethyl O-(6-methyl-2-(1-methylethyl)-4-pyrimidinyl) ester" @@ -74675,6 +74675,7 @@ "Iron(III)dicitrate" "Fe(III)dicitrate" "iron(III) dicitrate" + "genetic cardiac tumor" "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia" "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anaemia" "osteosarcoma, limb anomalies, and macrocytosis" @@ -74686,7 +74687,6 @@ "epilepsy, progressive myoclonic, 2A" "Epm2" "epilepsy, progressive myoclonic, 2B" - "genetic cardiac tumor" "TTM" "notochordal cancer" "duodenal benign neoplasm" @@ -75314,9 +75314,9 @@ "thyrotropin-releasing hormone deficiency" "TRH deficiency" "hypothalamic hypothyroidism" - "spastic paraplegia 57, autosomal recessive" "CIID" "ICF syndrome" + "spastic paraplegia 57, autosomal recessive" "STXBP1-related early-onset encephalopathy" "myopathy, limb-girdle, with bone fragility" "bone dysplasia with medullary fibrosarcoma" @@ -76184,8 +76184,8 @@ "neuropathy, hereditary motor and sensory, Okinawa type" "alpha-amino-p-hydroxybenzylpenicillin" "Amoxicillin anhydrous" - "amoxycilin" "amoxicillin" + "amoxycilin" "amoxycillin" "Clamoxyl" "(2S,5R,6R)-6-{[(2R)-2-amino-2-(4-hydroxyphenyl)acetyl]amino}-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid" @@ -76440,13 +76440,13 @@ "mental retardation, autosomal dominant 23" "intellectual disability, autosomal dominant 23" "autosomal dominant non-syndromic intellectual disability 23" + "chromosome 16p13.3 duplication" + "interstitial 16p13.3 duplication" + "16p13.3 duplication" "Riddeliine" "Riddelline" "Riddeliin" "18-Hydroxyseneciphylline" - "chromosome 16p13.3 duplication" - "interstitial 16p13.3 duplication" - "16p13.3 duplication" "anterior cervical hypertrichosis" "hypertrichosis, anterior cervical" "hairy throat" @@ -79800,10 +79800,10 @@ "corneal dystrophy, juvenile epithelial of Meesmann" "Meesman dystrophy" "glandulae uterinae" - "uriniferous tubule" "lipodystrophy, familial partial, type 6" "lipodystrophy, familial partial, associated with Lipe mutations" "familial partial lipodystrophy type 6" + "uriniferous tubule" "chondrodysplasia punctata syndrome" "MDMHB" "metaphyseal dysplasia maxillary hypoplasia brachydactyly" @@ -80469,16 +80469,16 @@ "hereditary symmetrical aplastic nevi of temples" "carbohydrate-deficient glycoprotein syndrome type 1I" "ALG2-CDG (CDG-II)" - "sparse hair and mental retardation" - "NBs" - "NCBRS" - "sparse hair and intellectual disability" - "NICOLAIDES-Baraitser syndrome" "osteodysgenesis, multisynostotic, with fractures" "osteodysgenesis, multisynostotic with fractures" "Antley Bixler syndrome" "multisynostotic osteodysgenesis with long bone fractures" "trapezoidocephaly synostosis syndrome" + "sparse hair and mental retardation" + "NBs" + "NCBRS" + "sparse hair and intellectual disability" + "NICOLAIDES-Baraitser syndrome" "Psychomotor retardation, profound" "M-CMTC" "macrocephaly-cutis marmorata telangiectatica congenita" @@ -81357,8 +81357,8 @@ "bronchiolus" "bronchioli" "glandula sudorifera" - "sudoriferous gland" "sudoriparous gland" + "sudoriferous gland" "interstitial nephritis, karyomegalic" "stapes ankylosis with BROAD thumb and toes" "stapes ankylosis syndrome without symphalangism" @@ -82480,11 +82480,11 @@ "MARCH" "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly" "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly" + "chorea familial benign" + "benign hereditary chorea" "iris hypoplasia with early-onset glaucoma, autosomal dominant" "iridogoniodysgenesis type 2" "ASGD4" - "chorea familial benign" - "benign hereditary chorea" "PPH1" "pulmonary hypertension, primary, 1" "synovitis granulomatous with uveitis and cranial neuropathies" @@ -83716,10 +83716,10 @@ "diabetes mellitus, transient neonatal" "diabetes mellitus, 6q24-related transient neonatal" "chromosome 6-associated transient diabetes mellitus" - "anes" - "alopecia, neurologic defects, and endocrinopathy syndrome" "maxillary cancer" "upper jaw bone cancer" + "anes" + "alopecia, neurologic defects, and endocrinopathy syndrome" "xeroderma pigmentosum, complementation group E" "XPe" "xeroderma pigmentosum 5" @@ -88532,20 +88532,20 @@ "intellectual disability, epilepsy, short stature and skeletal dysplasia" "mental retardation, epilepsy, short stature and skeletal dysplasia" "infections, Pediculus humanus" - "os sphenoidale" "sphenoid complex" + "os sphenoidale" "butterfly bone" "os sphenoidum" "limb-girdle muscular dystrophy - intellectual disability" "muscular dystrophy, limb-girdle, type 2K" "limb-girdle muscular dystrophy type 2K" "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1" + "tegmentum" "cerebal peduncle" "pedunculi cerebri" "pedunculus cerebralis" "cerebral peduncle (archaic)" "pedunculus cerebri" - "tegmentum" "glycogen storage disease 1A" "glycogen storage disease 1" "glucose-6-phosphatase deficiency glycogen storage disease" @@ -90501,10 +90501,10 @@ "macular degeneration, age-related, 7" "macular Degeneration, age-related, neovascular type, susceptibility to" "macular Degeneration, age-related, wet type, susceptibility to" - "pseudohermaphroditism, female, with skeletal anomalies" "5q14.3 deletion syndrome" "autosomal dominant intellectual disability 20" "chromosome 5q14.3 deletion syndrome" + "pseudohermaphroditism, female, with skeletal anomalies" "intellectual disability, autosomal dominant 7" "autosomal dominant non-syndromic intellectual disability 7" "mental retardation, autosomal dominant 7" @@ -95283,9 +95283,9 @@ "Hair Colors" "Color, Hair" "MTDPS8B" - "retinal dystrophy with inner nuclear layer and ganglion cell anomalies" "Pigment anomaly - ectrodactyly - hypodontia" "Acro-dermato-ungual-lacrimal-tooth syndrome" + "retinal dystrophy with inner nuclear layer and ganglion cell anomalies" "X-linked intellectual disability, Renpenning type" "X-linked intellectual disability due to PQBP1 mutations" "HCHWA, Iowa type" @@ -95524,9 +95524,9 @@ "Proteostasis deficiency" "deficiencies, Proteostasis" "Proteostasis dysfunction" + "SPG12" "blood serum keratin, type I cuticular Ha4 amount" "blood coagulation, platelet activation" - "SPG12" "infantile fibrosarcoma (congenital fibrosarcoma)" "infantile fibrosarcoma" "infantile fibrosarcoma (morphologic abnormality)" @@ -95758,12 +95758,12 @@ "OFD13" "oral-facial-digital syndrome type 13" "albinism" + "blood serum cell adhesion molecule DSCAML1 amount" "Bronchioalveolar Adenocarcinoma of Lung" "Bronchiolo-Alveolar Lung Carcinoma" "Bronchioloalveolar Adenocarcinoma of Lung" "Bronchioalveolar Lung Carcinoma" "Bronchiolo-Alveolar Carcinoma of Lung" - "blood serum cell adhesion molecule DSCAML1 amount" "ganglioneuroblastoma, malignant" "ganglioneuroblastoma (morphologic abnormality)" "ganglioneuroblastoma" @@ -95906,12 +95906,12 @@ "Hereditary motor and sensory neuropathy type 1" "CMT1" "FHH type 2" - "Ankylosis of teeth" "glandular cell neoplasm" "glandular cell epithelium neoplasm" "glandular cell tumor" "glandular cell tumour" "glandular cell epithelial neoplasm" + "Ankylosis of teeth" "blood serum GrpE protein homolog 1, mitochondrial amount" "Say-Barber-Biesecker-Young-Simpson syndrome" "SBBYSS" @@ -96365,8 +96365,8 @@ "emphysema, pulmonary" "Rapid breathing" "Pascual-Castroviejo syndrome type 2" - "O'Donnell-Pappas syndrome" "H157" + "O'Donnell-Pappas syndrome" "GM17831 cell" "Interleukin-18 levels" "IL-18 levels" @@ -96403,9 +96403,9 @@ "Dirofilaria disease or disorder" "infection by Dirofilaria" "Dirofilaria infectious disease" + "blood serum Phosphatidylethanolamine (18:0_0:0) amount" "CBA/Ca" "CBA Carter J" - "blood serum Phosphatidylethanolamine (18:0_0:0) amount" "Crane-Heise syndrome" "DC.pDC.8+" "blood serum tensin-2 amount" @@ -96622,13 +96622,13 @@ "pediatric meningioma" "epiphyseal dysplasia, multiple, with myopia and deafness" "multiple epiphyseal dysplasia-myopia-deafness syndrome" - "blood serum ribosome-binding protein 1 amount" "carcinoma of external Ear" "carcinoma of the external Ear" "external ear carcinoma" "external Ear carcinoma" "carcinoma of the external ear" "carcinoma of external ear" + "blood serum ribosome-binding protein 1 amount" "blood serum N-acetylgalactosamine kinase amount" "D-HUS with C3 anomaly" "hemolytic-uremic syndrome without diarrhoea with C3 anomaly" @@ -96706,13 +96706,13 @@ "macrophage polarization" "Congenital hypogonadotropic hypogonadism with anosmia" "Olfacto-genital pathological sequence" + "Infantile dysmorphic sialidosis" + "Sialidosis type 2" "GM17116 cell" + "split-pool ligation-based transcriptome sequencing" "hypoceruloplasminemia, hereditary" "hereditary ceruloplasmin deficiency" "aceruloplasminemia" - "split-pool ligation-based transcriptome sequencing" - "Infantile dysmorphic sialidosis" - "Sialidosis type 2" "TREX1 chilblain lupus" "chilblain lupus type 1" "chilblain lupus caused by mutation in TREX1" @@ -97000,13 +97000,13 @@ "Horton's disease" "Giant cell arteritis" "Giant cell arteritis (disorder)" + "L-isoleucyl-L-valine" "immunodeficiency 69, mycobacteriosis" "cellular component organisation at cellular level" "cell organisation" "cellular component organization in other organism" "cellular component organization at cellular level" "cellular component organisation in other organism" - "L-isoleucyl-L-valine" "breast mucosa-associated lymphoid tissue lymphoma" "breast MALT lymphoma" "GRO:0005417" @@ -97339,6 +97339,15 @@ "up regulation of blood platelet aggregation" "positive regulation of blood platelet aggregation" "tammar wallaby" + "adenocarcinoma of the small bowel" + "adenocarcinoma of small bowel" + "small bowel adenocarcinoma" + "adenocarcinoma of small instestine" + "small intestine adenocarcinoma" + "adenocarcinoma - small intest." + "adenocarcinoma of the small intestine" + "small intestinal adenocarcinoma" + "adenocarcinoma of small intestine" "benign tumor of the cerebral hemispheres" "benign cerebral hemispheric tumor" "benign tumor of cerebral hemispheres" @@ -97357,15 +97366,6 @@ "benign neoplasm of the cerebrum" "benign cerebral hemispheric tumour" "benign neoplasm of the cerebral hemispheres" - "adenocarcinoma of the small bowel" - "adenocarcinoma of small bowel" - "small bowel adenocarcinoma" - "adenocarcinoma of small instestine" - "small intestine adenocarcinoma" - "adenocarcinoma - small intest." - "adenocarcinoma of the small intestine" - "small intestinal adenocarcinoma" - "adenocarcinoma of small intestine" "H1648" "David syndrome" "GM17839 cell" @@ -97417,13 +97417,13 @@ "Pseudo-obstruction of intestine (disorder)" "intestine pseudoobstruction" "intestinal Pseudo-obstruction" - "blood serum interferon omega-1 amount" "Adult Acute Myelogenous Leukemia" "Adult Acute Non-Lymphocytic Leukemia" "Adult Acute Granulocytic Leukemia" "Adult Acute Myelocytic Leukemia" "Adult Acute Non-Lymphoblastic Leukemia" "Adult Acute Myeloblastic Leukemia" + "blood serum interferon omega-1 amount" "hepatic failure" "GM14503 cell" "S-Sulfo-L-cysteine" @@ -97641,8 +97641,8 @@ "urinary bladder papillary transitional cell neoplasm" "bladder papillary transitional cell neoplasm" "malignant neoplasm of tonsillar ring" - "malignant tonsillar ring neoplasm" "malignant neoplasm of Waldeyer's ring" + "malignant tonsillar ring neoplasm" "malignant tumour of Waldeyer's ring" "Waldeyer ring cancer" "tonsillar ring cancer" @@ -98049,11 +98049,11 @@ "osteochondritis of phalangeal epiphyses" "aseptic necrosis of phalangeal epiphyses" "GM17194 cell" - "SPG14" "gram per square meter" "gram per metre squared" "g/m^2" "blood serum keratin, type II cytoskeletal 6A amount" + "SPG14" "cervical intraepithelial neoplasia grade 2 (disorder)" "Dysplasia of cervix (disorder)" "Low-grade Intraepithelial Neoplasia of Cervix Uteri" @@ -98476,14 +98476,6 @@ "space of abdominal compartment" "blood serum Sterol ester (27:1/18:0) amount" "blood serum glutathione S-transferase mu 5 amount" - "Late eruption of milk teeth" - "Late eruption of primary teeth" - "Delayed eruption of baby teeth" - "Delayed eruption of milk teeth" - "Late eruption of baby teeth" - "Delayed eruption of deciduous teeth" - "Delayed primary teeth eruption" - "blood serum IQ domain-containing protein F3 amount" "Lyme borreliosis" "Lyme neuroborreliosis" "Bannworth's syndrome" @@ -98497,6 +98489,14 @@ "Steere's disease" "neurological Lyme disease" "Borrelia" + "Late eruption of milk teeth" + "Late eruption of primary teeth" + "Delayed eruption of baby teeth" + "Delayed eruption of milk teeth" + "Late eruption of baby teeth" + "Delayed eruption of deciduous teeth" + "Delayed primary teeth eruption" + "blood serum IQ domain-containing protein F3 amount" "maturity-onset diabetes of the young (disease) caused by mutation in INS" "MODY10" "INS maturity-onset diabetes of the young (disease)" @@ -98817,9 +98817,9 @@ "myelofibrosis with myeloid metaplasia, somatic" "5-amino-4-imidazole carboxamide ribosiduria" "ATIC deficiency" + "TruSeq-inDrop" "blood serum protein canopy homolog 4 amount" "blood serum enoyl-CoA hydratase, mitochondrial amount" - "TruSeq-inDrop" "cardiopulmonary arrest" "circulatory arrest" "blood serum ankyrin repeat and SOCS box protein 13 amount" @@ -98965,8 +98965,8 @@ "Low Sperm Counts" "spermatogenic failure" "Counts, Low Sperm" - "naphthyl-keratin adduct levels" "pyruvate dehydrogenase complex (lipoamide)" + "naphthyl-keratin adduct levels" "blood serum 2-hydroxyacid oxidase 1 amount" "X-linked hypohidrotic ectodermal dysplasia" "hypohidrotic ectodermal dysplasia, X-linked" @@ -99171,6 +99171,8 @@ "terminalis nerve" "stem cell" "'Arabidopsis Growth Stage 6.50'" + "48, XXYY syndrome" + "48, XXYY Syndrome" "endometrial tumor" "tumor of endometrium" "neoplasm of endometrium" @@ -99183,8 +99185,6 @@ "tumor of the endometrium" "endometrial neoplasm" "neoplasm of the endometrium" - "48, XXYY syndrome" - "48, XXYY Syndrome" "systemic tissue Mast cell disease" "systemic mastocytosis" "SMCD - systemic mast cell disease" @@ -99230,13 +99230,13 @@ "non-syndromic oculocutaneous albinism" "OCA" "nonsyndromic oculocutaneous albinism" - "pulmonary alveolar microlithiasis" "nTreg" "natural regulatory T cell" "natural regulatory T-cell" "natural regulatory T-lymphocyte" "natural regulatory T lymphocyte" "natural Treg" + "pulmonary alveolar microlithiasis" "blood serum glycogen phosphorylase, liver form amount" "Mobius Syndrome" "Moebius congenital oculofacial paralysis" @@ -99574,16 +99574,16 @@ "Reifenstein syndrome" "pais" "PAIS" - "erythrocyte GALE deficiency" - "erythrocyte uridine diphosphate galactose-4-epimerase deficiency" - "erythrocyte UDP-galactose-4-epimerase deficiency" - "erythrocyte epimerase deficiency galactosemia" - "erythrocyte GALE-D" "lung diffuse large B-cell lymphoma" "diffuse large B-cell lymphoma of lung" "high grade MALT lymphoma of the lung" "pulmonary diffuse large B-cell lymphoma" "primary pulmonary diffuse large B-cell lymphoma" + "erythrocyte GALE deficiency" + "erythrocyte uridine diphosphate galactose-4-epimerase deficiency" + "erythrocyte UDP-galactose-4-epimerase deficiency" + "erythrocyte epimerase deficiency galactosemia" + "erythrocyte GALE-D" "calcifying fibrous tumor" "CFT" "calcifying fibrous pseudotumor" @@ -99639,13 +99639,6 @@ "Bacteroides nodosus (Beveridge 1941) Mraz 1963 (Approved Lists 1980)" "chondrodysplasia lethal recessive" "Maroteaux-Stanescu-Cousin syndrome" - "pharyngeal lymphatic ring" - "Waldeyer's tonsillar ring" - "anulus lymphoideus pharyngis" - "pharyngeal lymphoid ring" - "Waldeyer's ring" - "oropharyngeal lymphoid tissue" - "Blood clot in vein" "Childhood Acute Differentiated Monocytic Leukemia (M5b)" "M5b Pediatric Acute Differentiated Monocytic Leukemia" "M5b Childhood Acute Differentiated Monocytic Leukemia" @@ -99654,6 +99647,13 @@ "Childhood Acute Monocytic Leukemia with Differentiation" "Pediatric Acute Differentiated Monocytic Leukemia" "Pediatric Acute Monocytic Leukemia with Differentiation" + "pharyngeal lymphatic ring" + "Waldeyer's tonsillar ring" + "anulus lymphoideus pharyngis" + "pharyngeal lymphoid ring" + "Waldeyer's ring" + "oropharyngeal lymphoid tissue" + "Blood clot in vein" "blood serum immunoglobulin heavy constant gamma 4 amount" "blood serum Axin-2 amount" "Laterality, Behavioral" @@ -99923,6 +99923,7 @@ "Abnormal skin structure" "Abnormal skin morphology" "Cubital region" + "Hepatolenticular degeneration" "Congenital disorder of glycosylation type 1k" "CDG-Ik" "Mannosyltransferase 1 deficiency" @@ -99933,7 +99934,6 @@ "Del(19)(p13.13)" "monosomy 19p13.13" "chromosome 19p13.13 deletion syndrome" - "Hepatolenticular degeneration" "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 amount" "response to stimulant ADHD agent therapy" "blood serum intraflagellar transport protein 20 amount" @@ -100347,13 +100347,13 @@ "blood serum COP9 signalosome complex subunit 7b amount" "2-oxobutanedioic acid" "Oxaloacetic acid" + "immune deficiency, familial variable" "carcinoma of the penis" "cancer of penis" "penile carcinoma" "penis carcinoma" "cancer of the penis" "carcinoma of penis" - "immune deficiency, familial variable" "Respiratory muscle weakness" "Decreased lung function due to weak breathing muscles" "Respiratory failure due to muscle weakness" @@ -100403,11 +100403,11 @@ "Thumb deformity" "Abnormality of the thumb" "Abnormality of the thumbs" - "hyperplasia, thymus" "GATA2 deficiency with susceptibility to MDS/AML" "GATA2 deficiency" "dyskeratosis congenita and related telomere biology disorder" "blood serum defensin beta 136 amount" + "hyperplasia, thymus" "(2R)-2-hydroxyoctadecanoate" "(R)-2-hydroxyoctadecanoate" "AO3" @@ -100702,8 +100702,8 @@ "Redundant eyelid skin" "Extra eyelid skin" "Eyelid dermatochalasia" - "SPG16" "blood serum cadherin-4 amount" + "SPG16" "blood serum EF-hand domain-containing protein D1 amount" "blood serum visual system homeobox 1 amount" "IL-1beta" @@ -100737,9 +100737,9 @@ "BTP1 syndrome" "MMRCS1" "mismatch repair cancer syndrome 1" + "Elevated circulating methylmalonic acid concentration" "iminoglycinuria" "iminoglycinuria, digenic" - "Elevated circulating methylmalonic acid concentration" "PLAN" "peroxisome biogenesis disorder type 1B" "peroxisome biogenesis disorder 1B" @@ -100811,8 +100811,8 @@ "sleep disturbances" "Sleep Disturbances" "Sleep Disorders" - "sleep disorder" "parasomnia" + "sleep disorder" "Disturbances, Sleep" "disturbances, sleep" "sleep disturbance" @@ -100967,8 +100967,8 @@ "Cardiovascular disease, unspecified" "OTHER SEQUELAE OF MI NEC" "Other ill-defined heart disease NOS" - "[X]Other forms of heart disease" "Disease of cardiovascular system" + "[X]Other forms of heart disease" "Other specified pericardial disease NOS" "Other diseases of pericardium (disorder)" "Disorder of cardiovascular system (disorder)" @@ -101216,13 +101216,6 @@ "paroxysmal finger hematoma" "Achenbach syndrome" "paroxysmal hematoma of the finger" - "malignant melanoma of meninges" - "melanoma of the leptomeninges" - "melanoma (disease) of leptomeninx" - "leptomeningeal melanoma" - "meningeal melanoma" - "leptomeninx melanoma" - "leptomeninx melanoma (disease)" "benign ciliary body tumour" "benign ciliary body tumor" "benign neoplasm of the ciliary body" @@ -101232,6 +101225,13 @@ "ciliary body benign neoplasm" "benign tumour of ciliary body" "benign tumour of the ciliary body" + "malignant melanoma of meninges" + "melanoma of the leptomeninges" + "melanoma (disease) of leptomeninx" + "leptomeningeal melanoma" + "meningeal melanoma" + "leptomeninx melanoma" + "leptomeninx melanoma (disease)" "tooth agenesis, selective, type 7" "tooth agenesis, selective, 7" "tooth agenesis caused by mutation in LRP6" @@ -101579,7 +101579,6 @@ "Wheat Hypersensitivity" "EGFRT17" "blood serum dihydroorotate dehydrogenase (quinone), mitochondrial amount" - "cerebellar medulloblastoma" "brain medulloblastoma" "medulloblastoma, somatic" "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation" @@ -101589,6 +101588,7 @@ "medulloblastoma" "medulloblastomas" "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation" + "cerebellar medulloblastoma" "jaw skeleton tumour" "tumor of jaw skeleton" "jaw skeleton tumor" @@ -101686,8 +101686,8 @@ "erythrocythemia" "Erythrocythemia" "polycythemia" - "small intestinal enteropathy-associated T-cell lymphoma" "enteropathy-associated T-cell lymphoma of small intestine" + "small intestinal enteropathy-associated T-cell lymphoma" "small intestine enteropathy-associated T-cell lymphoma" "small intestinal EATL" "small intestinal enteropathy-type T-cell lymphoma" @@ -101748,8 +101748,8 @@ "Pus-filled lesion" "(8beta)-8-[(methylsulfanyl)methyl]-6-propylergoline methanesulfonate" "Pascual-Castroviejo syndrome type 1" - "serial element" "segment" + "serial element" "BMS" "Burning Mouth Syndrome" "stomatodynia" @@ -101870,6 +101870,10 @@ "Macular Leprosies" "Leprosy, Tuberculoid" "Tuberculoid leprosy [type T]" + "Fukuhara syndrome" + "myoclonic epilepsy- ragged red fibers" + "Myoclonus epilepsy associated with ragged-red fibers" + "MERRF syndrome" "adenosarcoma of the body of uterus" "adenosarcoma of uterine body" "uterine corpus Mullerian adenosarcoma" @@ -101886,10 +101890,6 @@ "Isolated mitochondrial respiratory chain complex IV deficiency" "Isolated COX deficiency" "Contractures" - "Fukuhara syndrome" - "myoclonic epilepsy- ragged red fibers" - "Myoclonus epilepsy associated with ragged-red fibers" - "MERRF syndrome" "hereditary renal oncocytoma" "hereditary kidney oncocytoma" "familial renal oncocytoma" @@ -102151,10 +102151,6 @@ "Defective erythropoiesis" "RCB0009" "fils syndrome" - "branched-chain aminotransferase deficiency" - "HVLI" - "hypervalinemia and hyperleucine-isoleucinemia" - "hypervalinemia or hyperleucine-isoleucinemia" "Bell Palsy" "paralysis Of Facial nerve" "facial nerve paralysis" @@ -102164,6 +102160,10 @@ "palsy of facial nerve" "Bell palsy" "facial nerve palsy" + "branched-chain aminotransferase deficiency" + "HVLI" + "hypervalinemia and hyperleucine-isoleucinemia" + "hypervalinemia or hyperleucine-isoleucinemia" "Anterior synechiae" "Iridocorneal synechia" "Cornea-iris adhesion" @@ -102362,7 +102362,6 @@ "AR demyelinating HMSN" "blood serum peptidyl-prolyl cis-trans isomerase H amount" "blood serum TNF receptor-associated factor 4 amount" - "NEDMISB" "urological diseases" "urinary system disorder" "diseases, urologic" @@ -102389,6 +102388,7 @@ "diseases, urinary tract" "non-neoplastic urinary tract disease" "urinary tract disease" + "NEDMISB" "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP" "NADGP" @@ -102397,11 +102397,11 @@ "Freeman-Sheldon syndrome variant" "arthrogryposis, distal, type 2B" "distal arthrogryposis type 2B" - "Ruijs-Aalfs syndrome" "median nerve entrapment" "carpal tunnel median neuropathy" "CTS - carpal tunnel syndrome" "carpal tunnel syndrome" + "Ruijs-Aalfs syndrome" "MKN-28 cell" "MKN28 cell" "MKN-28" @@ -102413,11 +102413,11 @@ "blood serum insulin-induced gene 1 protein amount" "Dehydroepiandrosterone" "3beta-hydroxyandrost-5-en-17-one" + "rare genetic disorder due to impaired sperm transport" "lymphangioma, benign" "lymphangioma" "benign lymphangioma (morphologic abnormality)" "benign lymphangioma" - "rare genetic disorder due to impaired sperm transport" "Regional choroidal atrophy and alopecia" "Moloney syndrome" "tryptophan metabolism" @@ -102989,9 +102989,9 @@ "non-syndromic limb hypoplasia" "blood serum neutrophil defensin 3 (human) amount" "GM17196 cell" + "lysosomal alpha-D-mannosidase deficiency, infantile form" "small intestinal dysplasia" "small intestinal intraepithelial neoplasia" - "lysosomal alpha-D-mannosidase deficiency, infantile form" "Aspergillus fumigates" "Neosartorya fumigata" "Sartorya fumigata" @@ -103722,8 +103722,8 @@ "autosomal dominant mental retardation 8" "GRIN1 autosomal dominant non-syndromic intellectual disability" "HCC33" - "CME W1" "Autosomal Dominant Interstitial Kidney Disease" + "CME W1" "blood serum a disintegrin and metalloproteinase with thrombospondin motifs 6 amount" "prion disease pathway" "prion induced disorder" @@ -103827,16 +103827,16 @@ "Cleft lower jaw" "Mandibular cleft" "SPG19" - "Cocaine" - "COCAINE" - "(1R,2R,3S,5S)-2-(methoxycarbonyl)tropan-3-yl benzoate" - "methyl (1R,2R,3S,5S)-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate" - "blood serum cyclin-dependent kinase 2 amount" "empty sella syndrome" "Empty Sella Syndrome" "Empty sella syndrome" "Empty sella syndrome (disorder)" "empty sella" + "Cocaine" + "COCAINE" + "(1R,2R,3S,5S)-2-(methoxycarbonyl)tropan-3-yl benzoate" + "methyl (1R,2R,3S,5S)-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate" + "blood serum cyclin-dependent kinase 2 amount" "hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome" "hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome" "HOPP syndrome" @@ -104077,10 +104077,6 @@ "Trichostrongyloidiasis" "Trichostrongyloidea caused disease or disorder" "Trichostrongyloidea disease or disorder" - "Linked syndrome" - "MCAND" - "multiple congenital anomalies-neurodevelopmental syndrome, X-linked, X-linked recessive" - "dermatoosteolysis, Kirghizian type" "RhF - Rheumatic fever" "Rheumatic Fever" "rheumatic fever" @@ -104088,6 +104084,10 @@ "acute rheumatic fever" "ARF" "RHF - rheumatic fever" + "Linked syndrome" + "MCAND" + "multiple congenital anomalies-neurodevelopmental syndrome, X-linked, X-linked recessive" + "dermatoosteolysis, Kirghizian type" "ATM/TM" "Parkinson disease 13" "HTRA2 young-onset Parkinson disease" @@ -104152,13 +104152,13 @@ "autoimmune pancreatitis type 1" "GSH" "blood serum thiopurine S-methyltransferase amount" + "Darier's disease" + "Keratosis follicularis" + "Darier-White disease" "Scrotal hypoplasia" "Hypoplastic scrotum" "Underdeveloped scrotum" "Smaller than typical growth of scrotum" - "Darier's disease" - "Keratosis follicularis" - "Darier-White disease" "autosomal recessive type IV Ehlers-Danlos syndrome" "Ehlers-Danlos syndrome, vascular type, autosomal recessive" "Ehlers-Danlos syndrome, recessive type 4" @@ -104583,12 +104583,12 @@ "Escherichia coli strain UTI89" "Escherichia coli str. UTI89" "blood serum intersectin-1 amount" - "blood serum acrosomal protein SP-10 amount" - "blood serum acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase amount" "folliculitis" "dermatitis of hair follicle" "hair follicle dermatitis" "seborrhea capitis" + "blood serum acrosomal protein SP-10 amount" + "blood serum acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase amount" "MAC" "GWCD" "preaxial polydactyly type 4" @@ -104864,12 +104864,6 @@ "46,XY disorder of sex development due to complete LH resistance" "46,XY disorder of sex development due to complete luteinizing hormone resistance" "acquired primary ovarian failure" - "endothelium corneale" - "endothelium anterius corneae" - "anterior endothelium of cornea" - "epithelium posterius corneae" - "corneal endothelium" - "endothelium camerae anterioris bulbi" "intraductal and lobular breast carcinoma in situ" "non-invasive ductal breast carcinoma with non-invasive lobular breast carcinoma" "non-infiltrating ductal with non-infiltrating lobular carcinoma of the breast" @@ -104881,8 +104875,8 @@ "ductal carcinoma in situ with lobular carcinoma in situ of breast" "DCIS and LCIS of breast" "intraductal and lobular carcinoma in situ of breast" - "ductal and lobular carcinoma in situ of breast" "non-invasive ductal and non-invasive lobular carcinoma" + "ductal and lobular carcinoma in situ of breast" "non-invasive ductal and non-invasive lobular breast carcinoma" "ductal carcinoma in situ with lobular carcinoma in situ of the breast" "ductal and lobular breast carcinoma in situ" @@ -104891,6 +104885,12 @@ "intraductal carcinoma and lobular carcinoma in situ" "ductal and lobular carcinoma in situ of the breast" "non-invasive ductal with non-invasive lobular breast carcinoma" + "endothelium corneale" + "endothelium anterius corneae" + "anterior endothelium of cornea" + "epithelium posterius corneae" + "corneal endothelium" + "endothelium camerae anterioris bulbi" "hereditary nephroblastoma" "familial Wilms tumor" "familial Wilms tumour" @@ -105058,28 +105058,28 @@ "Salmonella kentucky" "glandula sudorifera apocrina" "2p21 contiguous gene deletion syndrome" - "Monosomy 14q22q23" - "14q22-q23 microdeletion syndrome" - "Del(14)(q22q23)" - "Monosomy 14q22-q23" "6-[4-(difluoromethoxy)-3-methoxyphenyl]pyridazin-3(2H)-one" "erythrocytosis, familial, 4" "familial polycythemia caused by mutation in EPAS1" "EPAS1 familial polycythemia" "erythrocytosis, familial, type 4" + "Monosomy 14q22q23" + "14q22-q23 microdeletion syndrome" + "Del(14)(q22q23)" + "Monosomy 14q22-q23" "Pregnancies" "Gestation" "PREGN" "Rh-null syndrome" - "Klippel-Trenaunay-Weber Syndrome" - "angioosteohypertrophy syndrome" - "Haemangiectatic hypertrophy" - "Klippel-Trenaunay-Weber syndrome" "collagen VI-related muscular dystrophy" "collagen VI-related muscle disorder" "collagen VI-related dystrophy" "collagen VI-related myopathy" "collagen 6-related myopathy" + "Klippel-Trenaunay-Weber Syndrome" + "angioosteohypertrophy syndrome" + "Haemangiectatic hypertrophy" + "Klippel-Trenaunay-Weber syndrome" "blood serum leucine-rich repeat-containing protein 3 amount" "blood serum methanethiol oxidase amount" "AML, 5q31-32 Deletion" @@ -105158,11 +105158,11 @@ "early-onset primary dystonia" "blood serum cilia- and flagella-associated protein 300 amount" "blood serum acyl-coenzyme A thioesterase THEM4 amount" - "Ayazi syndrome" "Ornithine aminotransferase deficiency" "Hyperornithinemia - gyrate atrophy of choroid and retina" "HOGA" "Hyperornithinemia" + "Ayazi syndrome" "GM17145 cell" "glycogenosis type IV, progressive hepatic form" "GSDIV, progressive hepatic form" @@ -105234,13 +105234,13 @@ "Salmonella thompson" "blood serum thioredoxin domain-containing protein 5 amount" "blood serum Ras-related protein Rab-7a amount" + "ureter schwannoma" "neurilemmoma of the ureter" "neurilemmoma of ureter" "ureteral neurilemmoma" "ureteral schwannoma" "ureter neurilemmoma" "schwannoma of the ureter" - "ureter schwannoma" "hypermethioninemia due to glycine N-methyltransferase deficiency" "GNMT deficiency" "Glycine N-methyltransferase deficiency" @@ -105388,12 +105388,12 @@ "Takao syndrome" "Shprintzen syndrome" "catch 22" - "Deletion 18q" - "18q- syndrome" "dendritic epidermal T-lymphocyte" "dendritic epidermal T-cell" "dendritic epidermal T lymphocyte" "DETC" + "Deletion 18q" + "18q- syndrome" "blood serum RING-type E3 ubiquitin-protein ligase PPIL2 amount" "Bacillus cereus strain G9842" "Bacillus cereus str. G9842" @@ -105432,8 +105432,8 @@ "blood serum U6 snRNA-associated Sm-like protein LSm4 amount" "DIPG" "diffuse intrinsic pontine glioma" - "benign sweat gland tumor" "sweat gland benign neoplasm" + "benign sweat gland tumor" "benign tumor of the sweat gland" "benign tumour of sweat gland" "benign tumour of the sweat gland" @@ -105567,12 +105567,6 @@ "2-methyl-3-hydroxybutyric aciduria" "MHBD deficiency" "HSD10 deficiency" - "MGA2" - "3-methylglutaconic aciduria type 2" - "Cardioskeletal myopathy with neutropenia and abnormal mitochondria" - "X-linked cardioskeletal myopathy and neutropenia" - "BTHS" - "Cardioskeletal myopathy-neutropenia" "Karpas 620" "KARPAS-620" "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 amount" @@ -105592,6 +105586,12 @@ "coho salmon" "Oncorhynchus kisutch (Walbaum, 1792)" "Oncorhyncus kisutch" + "MGA2" + "3-methylglutaconic aciduria type 2" + "Cardioskeletal myopathy with neutropenia and abnormal mitochondria" + "X-linked cardioskeletal myopathy and neutropenia" + "BTHS" + "Cardioskeletal myopathy-neutropenia" "blood serum chymotrypsin-C amount" "Timothy syndrome type 1 (disorder)" "blood serum phospholipid scramblase 3 amount" @@ -105640,13 +105640,13 @@ "grey mouse lemur" "gray mouse lemur" "Alopecia-epilepsy-oligophrenia syndrome, Moynahan type" + "TAG 56:9" "fetal haemoglobin measurement" "Fetal Hemoglobin" "HbF levels" "HGBF" "Hemoglobin F" "fetal hemoglobin levels" - "TAG 56:9" "Lopes-Gorlin syndrome" "iPS NIHi11" "blood serum tripeptidyl-peptidase 1 amount" @@ -105966,13 +105966,13 @@ "medulla spinalis" "blood serum syntaxin-8 amount" "SPGF46" + "body of uterus primitive neuroectodermal tumor" "malignant peripheral neuroectodermal tumor of the corpus uteri" "malignant peripheral neuroectodermal tumour of the corpus uteri" "body of uterus primitive neuroectodermal tumour" "primitive neuroectodermal tumour of body of uterus" "peripheral neuroectodermal cancer of the corpus uteri" "primitive neuroectodermal tumor of body of uterus" - "body of uterus primitive neuroectodermal tumor" "gastric (stomach) squamous cell cancer" "stomach squamous cell carcinoma" "gastric squamous cell carcinoma" @@ -106901,9 +106901,9 @@ "eyeball of camera-type eye neoplasm" "LGMDR27" "Genetic 46,XY DSD of endocrine origin" + "blood serum protein Muted amount" "specific developmental disorder" "HCC-78" - "blood serum protein Muted amount" "blood serum guanine deaminase amount" "Congenital ichthyosis - microcephalus - quadriplegia" "Ciliophora infectious disease" @@ -107038,11 +107038,11 @@ "Erucic acid" "lung aspergillosis" "pulmonary aspergilloma" + "SCAR3" "pediatric medulloblastoma" "medulloblastoma of childhood" "paediatric medulloblastoma" "childhood medulloblastoma" - "SCAR3" "SK4" "SK-GT-4" "blood serum campesterol 3-beta-D-glucoside amount" @@ -107420,8 +107420,8 @@ "uterine ligament adenocarcinoma" "blood plasma 9-HODE amount" "disease of upper respiratory tract" - "disease or disorder of upper respiratory tract" "upper respiratory tract disease or disorder" + "disease or disorder of upper respiratory tract" "upper respiratory tract disease" "disorder of upper respiratory tract" "blood serum prolyl hydroxylase EGLN3 amount" @@ -107455,9 +107455,9 @@ "ductal carcinoma in situ of the breast with cribriform pattern" "non-infiltrating cribriform ductal breast carcinoma" "non-invasive cribriform ductal breast carcinoma" + "nasopharyngeal squamous cell carcinoma" "Mirror foot, unilateral" "Mesoaxial polydactyly of toes, unilateral" - "nasopharyngeal squamous cell carcinoma" "Pseudotumor cerebri" "benign intracranial hypertension (disorder)" "benign intracranial hypertension" @@ -107691,6 +107691,10 @@ "neurothekeoma" "nerve sheath Myxoma" "blood serum Rab GTPase-binding effector protein 1 amount" + "adenocarcinoma of duodenum" + "adenocarcinoma of the duodenum" + "duodenal adenocarcinoma" + "duodenum adenocarcinoma" "hereditary spastic paraplegia type 28" "autosomal recessive pure spastic paraplegia caused by mutation in DDHD1" "SPG28" @@ -107703,10 +107707,6 @@ "posterior raphe nucleus" "nucleus raphes dorsalis" "Dorsal raphe" - "adenocarcinoma of duodenum" - "adenocarcinoma of the duodenum" - "duodenal adenocarcinoma" - "duodenum adenocarcinoma" "IPPYV" "birthweight" "brain cavernous hemangioma" @@ -107964,8 +107964,8 @@ "CHITD" "blood serum RING finger protein 141 amount" "green mud crab" - "PA-TU-8988T" "8988 T" + "PA-TU-8988T" "ACC 162" "8988-T" "rapid ejaculation" @@ -108580,12 +108580,12 @@ "blood serum uncharacterized protein C2orf66 (human) amount" "basal metabolic rate measurement" "BMR measurement" + "blood serum Phosphatidylcholine (18:1_18:3) amount" "disease or disorder of cerebellum" "cerebellum disease" "disorder of cerebellum" "cerebellum disease or disorder" "disease of cerebellum" - "blood serum Phosphatidylcholine (18:1_18:3) amount" "acinic cell adenocarcinoma" "acinar cell adenocarcinoma" "carcinoma of acinar cell" @@ -108691,10 +108691,10 @@ "cancer of heart" "malignant tumor of the heart" "malignant heart tumor" + "malignant tumor of heart" "malignant Cardiac tumour" "heart cancer" "malignant heart tumour" - "malignant tumor of heart" "malignant Cardiac tumor" "Cardiac neoplasm, malignant" "malignant tumour of heart" @@ -109866,9 +109866,9 @@ "vitamin D dependent rickets 2" "vitamin D-resistant rickets type II" "Staphylococcus mutans" - "neuralgia" "thyroid gland oncocytic adenoma" "benign oncocytoma of the thyroid" + "neuralgia" "global developmental delay, lung cysts, overgrowth, and wilms tumor" "glow syndrome" "GLOW syndrome, somatic mosaic" @@ -110089,6 +110089,7 @@ "gallbladder lipoma" "lipoma of the gallbladder" "lipoma of gallbladder" + "body of uterus squamous cell carcinoma" "telencephalon juvenile astrocytoma" "childhood astrocytic tumor of telencephalon" "telencephalon childhood astrocytic tumor" @@ -110102,7 +110103,6 @@ "paediatric astrocytoma of the cerebrum" "paediatric cerebral astrocytoma" "pediatric astrocytoma of cerebrum" - "body of uterus squamous cell carcinoma" "ADVIRC" "pancreatic adrenocorticotropic hormone producing tumour" "pancreatic ACTH producing tumour" @@ -110386,13 +110386,13 @@ "Narcoleptic Syndrome" "Syndromes, Narcoleptic" "Gelineau's Syndromes" - "XPA" "Bromus inermis Leyss." "Bromopsis inermis" "Hungarian brome grass" "Bromopsis inermis (Leyss.) Holub" "awnless brome grass" "smooth brome grass" + "XPA" "blood serum microphthalmia-associated transcription factor amount" "thiamine-responsive dysfunction syndrome" "hyperhomocysteinemia" @@ -110945,9 +110945,9 @@ "blood serum acidic fibroblast growth factor intracellular-binding protein amount" "herniation of rectum into vagina" "female rectocele" + "hypoplastic amelogenesis imperfecta" "skeletal maturity" "bone age" - "hypoplastic amelogenesis imperfecta" "frontotemporal dementia with amyotrophic lateral sclerosis" "frontotemporal dementia with ALS" "FTD-MND" @@ -111142,9 +111142,9 @@ "multiple café-au-lait syndrome" "multiple cafe-au-lait spots" "anti-HEV antibody measurement" - "Abnormality of serine family amino acid metabolism" "blood serum NudC domain-containing protein 2 amount" "blood serum small ribosomal subunit protein eS19 amount" + "Abnormality of serine family amino acid metabolism" "neoplasm of endocardium" "endocardium tumor" "tumor of endocardium" @@ -111362,9 +111362,9 @@ "area 46 of Brodmann-1909" "BA46" "B09-46" - "middle frontal area 46" "area 46 of Brodmann" "Brodmann area 46" + "middle frontal area 46" "Brodmann (1909) area 46" "TPHA" "Warts-infections-leukopenia-myelokatexis" @@ -111680,13 +111680,11 @@ "(2S)-2,3,3-trideuterio-2-(dideuterioamino)-3-(2,3,4-trideuteriophenyl)propanoic acid" "syndromic urogenital tract malformation" "syndrome associated with urogenital tract malformation" + "HCHWA, Italian type" "CFND" "Craniofrontonasal syndrome" "CFNS" "blood serum C-X-C motif chemokine 17 amount" - "HCHWA, Italian type" - "sooty mangabey" - "Cercocebus torquatus atys" "PLSIMCE" "Immature Plasma Cells" "splenomegaly-neutropenia-rheumatoid arthritis syndrome" @@ -111695,7 +111693,12 @@ "Felty's syndrome" "rheumatoid arthritis with splenoadenomegaly and leukopenia" "Rheumatoid arthritis with splenoadenomegaly and leukopenia" + "sooty mangabey" + "Cercocebus torquatus atys" + "blood serum indoleamine 2,3-dioxygenase 1 amount" "KTZSL" + "Salla disease" + "sialic acid storage disease" "Richner-Hanhart syndrome" "tyrosinemia due to TAT deficiency" "tyrosinemia due to tyrosine aminotransferase deficiency" @@ -111709,15 +111712,12 @@ "hippocampal dentate gyrus" "fascia dentata" "gyrus dentatus" - "Salla disease" - "sialic acid storage disease" "TGA" "complete transposition" "TGV" "great vessels transposition" "transposition of the great vessels" "transposition of great vessels" - "blood serum indoleamine 2,3-dioxygenase 1 amount" "1-[2-(dimethylamino)-1-(4-methoxyphenyl)ethyl]cyclohexanol" "Venlafaxine" "PHTS" @@ -111960,11 +111960,11 @@ "spindle cell thymoma" "thymoma, medullary" "medullary thymoma" - "(2R)-3-[(4Z,7Z,10Z,13Z,16Z)-docosa-4,7,10,13,16-pentaenoyloxy]-2-hydroxypropyl 2-(trimethylammonio)ethyl phosphate" "Congenital dyserythropoietic anemia type 1" "CDA type 1" "CDA I" "CDA type I" + "(2R)-3-[(4Z,7Z,10Z,13Z,16Z)-docosa-4,7,10,13,16-pentaenoyloxy]-2-hydroxypropyl 2-(trimethylammonio)ethyl phosphate" "blood serum G0/G1 switch protein 2 amount" "synovial bursa inflammation" "inflammation of synovial bursa" @@ -112100,10 +112100,10 @@ "cancer of the extragonadal non-seminomatous germ cell" "malignant neoplasm of extragonadal non-seminomatous germ cell" "malignant tumour of extragonadal non-seminomatous germ cell" - "malignant tumor of extragonadal non-seminomatous germ cell" "malignant extragonadal non-seminomatous germ cell tumour" - "malignant extragonadal non-seminomatous germ cell tumor" + "malignant tumor of extragonadal non-seminomatous germ cell" "extragonadal non-seminomatous germ cell cancer" + "malignant extragonadal non-seminomatous germ cell tumor" "malignant extragonadal non-seminomatous germ cell neoplasm" "malignant tumour of the extragonadal non-seminomatous germ cell" "malignant tumor of the extragonadal non-seminomatous germ cell" @@ -113013,7 +113013,6 @@ "DYT21" "dystonia 21" "dystonia type 21" - "organonitrogen compound metabolism" "diseases" "diseases and disorders" "Homo sapiens disease" @@ -113026,6 +113025,7 @@ "disorder" "disease or disorder, non-neoplastic" "human disease" + "organonitrogen compound metabolism" "RDW" "blood serum cell surface glycoprotein MUC18 amount" "blood serum cocaine- and amphetamine-regulated transcript protein amount" @@ -113107,11 +113107,11 @@ "Ligase 4 syndrome" "rosette" "leaf whorl" - "hemangiosarcoma of aorta" "aortic hemangiosarcoma" + "hemangiosarcoma of aorta" "aortic angiosarcoma" - "angiosarcoma of the aorta" "hemangiosarcoma of the aorta" + "angiosarcoma of the aorta" "angiosarcoma of aorta" "angiosarcoma (disease) of aorta" "aorta angiosarcoma (disease)" @@ -113125,9 +113125,6 @@ "congenital left-sided heart lesions" "congential LSLs" "LVOTD" - "Miscanthus giganteus" - "Miscanthus sinensis x Miscanthus sacchariflorus" - "Miscanthus x gigantheus J.M.Greef & Deuter 1993, nom. inval." "leukodystrophy caused by mutation in VPS11" "VPS11-related autosomal recessive hypomyelinating leukoencephalopathy" "VPS11 leukodystrophy" @@ -113135,6 +113132,9 @@ "hypomyelinating leukodystrophy type 12" "leukodystrophy, hypomyelinating, type 12" "HLD12" + "Miscanthus giganteus" + "Miscanthus sinensis x Miscanthus sacchariflorus" + "Miscanthus x gigantheus J.M.Greef & Deuter 1993, nom. inval." "IUGR" "foetal small for gestational Age" "foetal Growth retardation" @@ -113237,11 +113237,11 @@ "syndrome of apparent mineralocorticoid Excess" "cortisol 11-beta-ketoreductase deficiency" "11 Beta-hydroxysteroid dehydrogenase type 2 deficiency" + "Webster-Deming syndrome" "cc" "cm^3" "MPP" "hemopoietic progenitor cell" - "Webster-Deming syndrome" "blood serum endophilin-A3 amount" "laryngitis, chronic" "Kopysc-Barczyk-Krol syndrome" @@ -114116,8 +114116,8 @@ "Tuberculosis, Ocular" "Tuberculosis of eye (disorder)" "SEX TRANSM DIS BACT" - "VENEREAL DIS BACT" "Venereal Disease, Bacterial" + "VENEREAL DIS BACT" "Bacterial Venereal Diseases" "Sexually Transmitted Disease, Bacterial" "BACT VENEREAL DIS" @@ -114507,11 +114507,11 @@ "pharyngeal squamous cell carcinoma" "pharyngeal squam. cell carcinoma" "blood serum endophilin-B1 amount" + "perinatal jaundice due to hepatocellular damage" "insulin secretion rate measurement" "group A streptococci" "Streptococcus sp. (group A)" "group A streptococcus" - "perinatal jaundice due to hepatocellular damage" "intellectual disability-loss of expressive language-facial dysmorphism syndrome" "SOFM" "tyrosinemia type III" @@ -114908,8 +114908,8 @@ "tumor of trophoblast" "trophoblastic tumor (qualifier value)" "trophoblastic tumor" - "trophoblastic neoplasm NOS (morphologic abnormality)" "trophoblast neoplasm" + "trophoblastic neoplasm NOS (morphologic abnormality)" "trophoblast neoplasm (disease)" "trophoblastic neoplasm (morphologic abnormality)" "trophoblast tumor" @@ -114996,8 +114996,8 @@ "haematopoietic tumour of central nervous system" "central nervous system haematopoietic neoplasms" "hematopoietic and lymphoid system neoplasm of central nervous system" - "central nervous system haematopoietic and lymphoid system neoplasm" "hematopoietic neoplasm of the CNS" + "central nervous system haematopoietic and lymphoid system neoplasm" "hematopoietic neoplasm of central nervous system" "hematopoietic tumor of central nervous system" "hematopoietic neoplasm of the central nervous system" @@ -115028,13 +115028,13 @@ "keratoderma" "keratosis" "blood serum methyltransferase-like protein 11A amount" - "CASP8" "blood serum protein S100-A8 amount" "Precursor Plasma Cells" "Plasmablast" "PLSPCE" - "Bacteroides gingivalis" + "CASP8" "non-infectious iridocyclitis" + "Bacteroides gingivalis" "ABOLM" "phosphatidylcholine 42:1" "blood serum interferon alpha-1/13 amount" @@ -115530,8 +115530,6 @@ "LIMD" "CNS development" "octadecanoate" - "Abnormal glucose-6-phosphate dehydrogenase level" - "Abnormal G6PD level" "Bacillus butyricus" "Bacillus amylobacter" "Amylobacter navicula" @@ -115540,6 +115538,8 @@ "Clostridium naviculum" "Bacterium navicula" "Clostridium pseudotetanicum" + "Abnormal glucose-6-phosphate dehydrogenase level" + "Abnormal G6PD level" "GM17800 cell" "Jankovic-Rivera syndrome" "adult foregut precursor" @@ -115633,6 +115633,8 @@ "susceptibility to herpes zoster measurement" "leukoplakia of gingiva" "gingival leukoplakia" + "pigmentary hairy epidermal nevus" + "Becker nevus syndrome" "fibular longitudinal meromelia, unilateral" "Elevated white blood count" "Increased blood leukocyte number" @@ -115645,8 +115647,6 @@ "green monkey" "Cercopithecus aethiops" "African green monkey" - "pigmentary hairy epidermal nevus" - "Becker nevus syndrome" "external Ear infection" "swimmer's Ear" "outer Ear infection" @@ -115744,12 +115744,12 @@ "conjunctival pigmentation" "conjunctival pigmented lesion" "blood serum ferritin heavy polypeptide-like 17 amount" + "Genetic 46,XY DSD" "KCNJ11 hyperinsulinemic hypoglycemia (disease)" "hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11" "hyperinsulinemic hypoglycemia, familial, type 2" "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" "hyperinsulinemic hypoglycemia, familial, 2" - "Genetic 46,XY DSD" "blood serum E3 ubiquitin-protein ligase parkin amount" "Diabetes insipidus - diabetes mellitus - optic atrophy - deafness" "DIDMOAD syndrome" @@ -116150,11 +116150,11 @@ "Scarring or clouding of the cornea of the eye" "Corneal opacities" "hereditary pyropoikilocytosis" - "gonadal dysgenesis syndrome" "X-Linked Combined Immunodeficiency Disease" "x-linked severe combined immunodeficiency" "combined immunodeficiency, X-linked" "combined immunodeficiency, X-linked, moderate, X-linked recessive" + "gonadal dysgenesis syndrome" "phosphatidylcholine 42:2" "blood serum Golgi phosphoprotein 3-like amount" "Polidocanol" @@ -116178,12 +116178,12 @@ "secondary erythrocytosis" "secondary polycythemia" "meningitis caused by human poliovirus" + "PLPM" "Vigna unguiculata subsp. unguiculata Unguiculata Group" "Vigna unguiculata subsp. unguiculata (Unguiculata Group)" "Vigna sinensis" "Vigna unguiculata Unguiculata Group" "cowpea" - "PLPM" "blood serum X antigen family member 2 amount" "Swelling of ureter" "Dilated ureter" @@ -116277,9 +116277,9 @@ "blood serum BTB/POZ domain-containing protein KCTD1 amount" "Tsukahara syndrome" "Giuffré-Tsukahara syndrome" + "Hemifacial hyperplasia - strabismus" "Drash syndrome" "Wilms tumor and pseudohermaphroditism" - "Hemifacial hyperplasia - strabismus" "Variegate porphyria" "Protoporphyrinogen oxidase deficiency" "syndactyly type 9" @@ -116457,8 +116457,8 @@ "A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterised by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy." "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15" "Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15" - "Type A aortic dissection" "Lethal neonatal rigidity-multifocal seizure syndrome" + "Type A aortic dissection" "proximal spinal muscular atrophy, autosomal dominant" "Craniosynostosis - alopecia - brain defect" "Cerebellotrigeminal - dermal dysplasia" @@ -116692,8 +116692,8 @@ "Global run-on sequencing" "Genomic run-on sequencing" "guttate psoriasis" - "GM17801 cell" "CSF clusterin measurement" + "GM17801 cell" "blood serum high mobility group protein B3 amount" "disease or disorder of ventral horn of spinal cord" "disease of ventral horn of spinal cord" @@ -116816,10 +116816,10 @@ "Enteric anendocrinosis" "iPS cell" "iPSC" + "blood serum dermokine amount" "HSF4 cataract (disease)" "cataract (disease) caused by mutation in HSF4" "CTRCT5" - "blood serum dermokine amount" "blood serum prosaposin receptor GPR37 amount" "fructose intolerance, hereditary" "hereditary fructosemia" @@ -116909,10 +116909,6 @@ "tracheitis" "Tracheitis" "tracheal Inflammation" - "middle Ear polyp" - "polyp of the middle ear" - "middle ear polyp" - "polyp - middle ear" "Fukuyama Type Congenital Muscular Dystrophy" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" "Fukuyama congenital muscular dystrophy" @@ -116921,6 +116917,10 @@ "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4" "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related" "muscle-eye-brain-FKTN related" + "middle Ear polyp" + "polyp of the middle ear" + "middle ear polyp" + "polyp - middle ear" "blood serum pancreatic lipase-related protein 2 amount" "angiosarcoma of the gallbladder" "hemangiosarcoma of gallbladder" @@ -117359,11 +117359,11 @@ "neuroendocrine tumour of the prostate" "prostate gland neuroendocrine neoplasm" "prostate neuroendocrine neoplasm" - "genetic lethal multiple congenital anomalies/dysmorphic syndrome" "Salicylic acid" "2-hydroxybenzoic acid" "Dykes-Marks-Harper syndrome" "Dykes-Markes-Harper syndrome" + "genetic lethal multiple congenital anomalies/dysmorphic syndrome" "10x 3' v4 sequencing" "10X 3' v4 sequencing" "10X 3' v4" @@ -117483,12 +117483,12 @@ "blepharophimosis-epicanthus inversus-ptosis due to a CNV" "blepharophimosis types 1 and 2 due to copy number variations" "Upshaw-Schulman syndrome" + "blood serum Bcl-2-modifying factor amount" "PLAN" "INAD" "INAD1" "Phospholipase A2-associated neurodegeneration" "Seitelberger disease" - "blood serum Bcl-2-modifying factor amount" "quantseq" "quant-seq" "QuantSeq" @@ -118496,6 +118496,11 @@ "blood serum sulfite oxidase, mitochondrial amount" "neurofaciodigitorenal syndrome" "Freire Maia-Pinheiro-Opitz syndrome" + "inborn porphyrin-containing compound metabolic process disorder" + "inborn disorder of porphyrin and haem metabolism" + "inborn error of porphyrin-containing compound metabolic process" + "rare inborn error of porphyrin-containing compound metabolic process" + "inherited disorder of porphyrin metabolism" "Syringadenoma papilliferum" "papillary Syringadenoma" "Syringadenoma" @@ -118506,11 +118511,6 @@ "fistulous vegetative verrucous hydradenoma" "papillary Syringadenoma (syringocystadenoma papilliferum)" "papillary syringocystadenoma" - "inborn porphyrin-containing compound metabolic process disorder" - "inborn disorder of porphyrin and haem metabolism" - "inborn error of porphyrin-containing compound metabolic process" - "rare inborn error of porphyrin-containing compound metabolic process" - "inherited disorder of porphyrin metabolism" "3alpha,6alpha,7alpha-trihydroxy-5beta-cholan-24-oic acid" "Hyocholic acid" "superior palpebral coloboma" @@ -118822,10 +118822,9 @@ "tunica vasculosa of eyeball" "uveal tract" "uvea" - "blood serum adhesion G protein-coupled receptor B3 amount" "leg dermatosis" + "blood serum adhesion G protein-coupled receptor B3 amount" "blood serum gastric inhibitory polypeptide amount" - "blood serum procollagen C-endopeptidase enhancer 2 amount" "hemangioma of intracranial structures" "intracranial hemangioma" "intracranial angioma" @@ -118834,6 +118833,7 @@ "angioma of the intracranial structure" "angioma of intracranial structure" "hemangioma of brain" + "blood serum procollagen C-endopeptidase enhancer 2 amount" "mucinous cystadenofibroma" "blood serum BTB/POZ domain-containing protein KCTD3 amount" "CHANDS" @@ -119083,11 +119083,11 @@ "disease of biliary tree" "biliary tract disorder" "disease or disorder of biliary tree" + "blood serum protein mago nashi amount" "XDH and AOX dual deficiency" "xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency" "xanthine dehydrogenase and aldehyde oxidase, combined deficiency of" "XAN2" - "blood serum protein mago nashi amount" "DA2B4" "dental fear" "dentist phobia" @@ -119389,7 +119389,6 @@ "sialolithiasis" "Salivary Gland Calculi" "Stone of salivary gland or duct" - "GM17803 cell" "Linear IgA IgG Dermatosis" "linear IgA Dermatosis" "Linear IgA bullous dermatosis" @@ -119397,6 +119396,7 @@ "Chronic Bullous Disease of Childhood" "Linear IgA IgG Bullous Dermatosis" "Drug-induced Linear IgA Dermatosis" + "GM17803 cell" "blood serum kinesin-like protein KIF3C amount" "SPG27" "4,6-diamino-3-[3-deoxy-4-C-methyl-3-(methylamino)pentopyranosyloxy]-2-hydroxycyclohexyl 2-amino-2,3,4,6,7-pentadeoxy-6-(methylamino)heptopyranoside" @@ -119550,14 +119550,14 @@ "Cartilage disorder" "Chondropathy (disorder)" "Cartilage Diseases" - "macrodactyly, somatic, (3), cerebral cavernous malformations 4, somatic" - "Megalodactyly" + "blood serum ceramide phosphoethanolamine amount" "Desulfovibrio desulfuricans G20" "Desulfovibrio alaskensis str. G20" "Desulfovibrio desulfuricans str. G20" "Desulfovibrio alaskensis strain G20" "Desulfovibrio desulfuricans subsp. desulfuricans str. G20" - "blood serum ceramide phosphoethanolamine amount" + "macrodactyly, somatic, (3), cerebral cavernous malformations 4, somatic" + "Megalodactyly" "blood serum nesprin-2 amount" "Bacterium tularense" "Pasteurella tularensis" @@ -119823,10 +119823,10 @@ "GILLESPIE syndrome" "aniridia, cerebellar ataxia, and intellectual disability" "aniridia, cerebellar ataxia, and mental retardation" + "neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation" "adult hemangiopericytoma, malignant" "hemangiopericytoma, malignant of adults" "malignant adult hemangiopericytoma" - "neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation" "GM17201 cell" "radiation-induced abnormalities" "radiation-induced disorder" @@ -120005,12 +120005,12 @@ "colonic mucosa" "animal breed" "CATSHL syndrome" - "RCB2639" - "Nb2a" - "N2A" "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; GDACCF" "GDACCF" + "RCB2639" + "Nb2a" + "N2A" "tetrahydrobiopterin-responsive HPA/PKU" "BH4-responsive HPA/PKU" "BH4-responsive hyperphenylalaninemia/phenylketonuria" @@ -120347,9 +120347,9 @@ "malignant tumour of cerebellum" "malignant tumour of the cerebellum" "malignant cerebellar tumor" + "malignant tumor of the cerebellum" "malignant cerebellum neoplasm" "malignant cerebellar neoplasms" - "malignant tumor of the cerebellum" "cerebellum cancer" "Communicating branch of phrenic nerve to internal thoracic plexus" "cerebrum" @@ -120373,8 +120373,8 @@ "SCAR10" "Stenoses, Aortic Valve" "Stenosis, Aortic" - "AS" "Aortic Valve Stenosis" + "AS" "AS - Aortic stenosis" "Aortic Valve Stenoses" "Stenosed aortic valve" @@ -120452,8 +120452,8 @@ "malignant hyperthermia susceptibility 1" "L-cysteine" "L-Cysteine" - "Impaired use of nonverbal behaviours" "Impaired use of nonverbal behaviours" + "Impaired use of nonverbal behaviours" "Abnormal nonverbal communicative behavior" "Impaired use of nonverbal behaviors" "Renal hypomagnesemia type 2" @@ -120494,12 +120494,12 @@ "N'-(aminosulfonyl)-3-[({2-[(diaminomethylidene)amino]-1,3-thiazol-4-yl}methyl)sulfanyl]propanimidamide" "dihydropyrimidinuria" "dihydropyrimidinase deficiency" - "Hypertensive Encephalopathy" - "hypertensive encephalopathy" "partial trisomy of the long arm of chromosome 10" "partial duplication of chromosome 10q" "partial trisomy of chromosome 10q" "mild peroxismal disorder due to PEX10 deficiency" + "Hypertensive Encephalopathy" + "hypertensive encephalopathy" "pterygium of conjunctiva and cornea" "pterygium" "surfer's eye" @@ -120509,6 +120509,7 @@ "lymphoma, plasmacytic" "lymphoplasmacytoid lymphoma" "lymphoma, lymphoplasmacytic, malignant" + "acquired hemoglobinopathy" "mandibular cancer" "malignant neoplasm of lower jaw bone" "malignant neoplasm of inferior maxilla" @@ -120516,13 +120517,12 @@ "cancer of mandible" "malignant neoplasm of mandible" "malignant mandible neoplasm" - "acquired hemoglobinopathy" "blood serum ubiquitin-conjugating enzyme E2 Q2 amount" "PCCA" - "NK.49D-.Sp" "Fv1^b" "FVB/N" "Friend Virus B" + "NK.49D-.Sp" "telencephalic ventricle" "lateral ventricle" "lateral ventricles" @@ -120722,11 +120722,11 @@ "genomic copy number assessment" "copy number variation analysis" "hyperlipoproteinemia" - "testosterone level" - "testosterone levels" "C4b-binding protein measurement" "C4b binding protein levels" "C4b-binding protein levels" + "testosterone level" + "testosterone levels" "GM02783 cell" "leukocyte adhesion deficiency caused by mutation in ITGB2" "leukocyte adhesion deficiency type I" @@ -121136,8 +121136,8 @@ "Rotenone" "MALToma of stomach" "MALToma of the stomach" - "MALT lymphoma of stomach" "primary gastric B-cell MALT lymphoma" + "MALT lymphoma of stomach" "stomach MALT lymphoma" "gastric MALToma" "gastric MALT lymphoma" @@ -121292,6 +121292,7 @@ "2-oxopentanedioate" "high content screening" "HCS" + "blood serum centrosomal protein 43 amount" "eccrine skin tumour" "eccrine tumor of skin" "eccrine tumor of the skin" @@ -121311,7 +121312,6 @@ "eccrine tumour" "eccrine neoplasm of skin" "Phospholipid" - "blood serum centrosomal protein 43 amount" "blood serum potassium voltage-gated channel subfamily E member 3 amount" "blood serum ubiquitin carboxyl-terminal hydrolase BAP1 amount" "polyarticular juvenile idiopathic arthritis, RF+" @@ -121502,10 +121502,10 @@ "gene deletion screening" "gene deletion screen" "blood serum lymphocyte antigen 75 isoform 4 and LY75-CD302 fusion isoforms V34-2/V33-2 (human) amount" - "Increased tyrosine in blood" - "Tyrosinemia" "Pena-Shokeir syndrome type 2" "Cerebrooculofacioskeletal syndrome" + "Increased tyrosine in blood" + "Tyrosinemia" "blood serum apolipoprotein C-III amount" "blood serum chromosome transmission fidelity protein 8 homolog amount" "Vitreoretinopathy, Proliferative" @@ -121675,9 +121675,9 @@ "HSH" "HOMG1" "Hypomagnesemia intestinal type 1" - "PHSH" "Intestinal hypomagnesemia with secondary hypocalcemia" "Hypomagnesemia caused by selective magnesium malabsorption" + "PHSH" "Prolonged bleeding time" "Increased bleeding time" "disease or disorder of adenohypophysis" @@ -122467,11 +122467,11 @@ "inflammation of conjunctiva" "arthropod-borne viral infection" "arbovirus infection" - "GM14533 cell" "hereditary nonspherocytic hemolytic anaemia" "congenital nonspherocytic hemolytic anemia" "HNSHA" "hereditary nonspherocytic hemolytic anemia" + "GM14533 cell" "blood serum melanoma-associated antigen 4 amount" "N-methylnicotinate" "N-Methylnicotinate" @@ -122625,9 +122625,9 @@ "Insulin-resistant diabetes mellitus AND acanthosis nigricans" "Type 2 diabetes mellitus with acanthosis nigricans (disorder)" "Insulin Receptor Defect with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans" - "blood serum secretory carrier-associated membrane protein 5 amount" "Gastric Outlet Obstruction" "gastric outflow obstruction" + "blood serum secretory carrier-associated membrane protein 5 amount" "blood serum heat shock protein HSP 90-alpha amount" "blood serum proteasome subunit beta type-3 amount" "cytoplasm component" @@ -122746,8 +122746,8 @@ "bleeding" "haemorrhage" "short rib-polydactyly syndrome type 2" - "neurodegeneration with brain iron accumulation 8" "CMT2L" + "neurodegeneration with brain iron accumulation 8" "spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type" "SEMD, MATN3-related" "SEMD, matrilin-3 type" @@ -122814,13 +122814,13 @@ "PRX Charcot-Marie-Tooth disease type 4" "Charcot-Marie-Tooth disease type 4 caused by mutation in Prx" "Charcot-Marie-Tooth disease type 4 caused by mutation in PRX" - "neutropenia, severe congenital, X-linked, X-linked recessive" - "severe congenital neutropenia, X-linked" - "X-linked severe congenital neutropenia" "laryngeal sarcoma" "larynx sarcoma" "sarcoma of the larynx" "sarcoma of larynx" + "neutropenia, severe congenital, X-linked, X-linked recessive" + "severe congenital neutropenia, X-linked" + "X-linked severe congenital neutropenia" "(2E)-3-carboxyprop-2-enoate" "Low parathyroid hormone" "Decreased parathyroid hormone secretion" @@ -122855,9 +122855,9 @@ "Anterior compartment syndrome" "anterior compartment syndrome" "Anterior Compartment Syndrome" + "porencephaly-microcephaly-bilateral congenital cataract syndrome" "Episodic choreoathetosis/spasticity" "DYT9" - "porencephaly-microcephaly-bilateral congenital cataract syndrome" "multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome" "Enlarged liver and spleen" "paediatric central nervous system endodermal sinus neoplasm" @@ -123159,11 +123159,11 @@ "chondrogenic tumor" "chondromatous tumour" "cartilaginous tumor" + "blood serum fascin amount" "Poor swallowing" "Swallowing difficulties" "Swallowing difficulty" "Difficulty swallowing" - "blood serum fascin amount" "SG4" "cholesterol, total" "total cholesterol levels" @@ -123304,10 +123304,10 @@ "F442A cell" "F442A" "blood serum PRKC apoptosis WT1 regulator protein amount" + "EBS-migr" "Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency" "Mitochondrial encephalo-cardio-myopathy due to mitochondrial respiratory chain complex V deficiency" "Mitochondrial encephalo-cardio-myopathy due to ATP synthase deficiency" - "EBS-migr" "maxillary sinus inverted papilloma" "inverted papilloma of maxillary sinus" "inverted papilloma of the maxillary sinus" @@ -123377,11 +123377,11 @@ "autosomal recessive complicated spastic paraplegia" "autosomal recessive complex HSP" "autosomal recessive complex SPG" - "T cell of small intestine Peyer's patch" - "T cell of Peyer's patch of small intestine" "ZARD" "ZC4H2-associated rare disorders" "ZC4H2-associated disorder" + "T cell of small intestine Peyer's patch" + "T cell of Peyer's patch of small intestine" "skin infection" "Kabuki make up syndrome" "KMS" @@ -123392,6 +123392,9 @@ "skin of eyelid cancer" "cancer of skin of eyelid" "malignant neoplasm of skin of eyelid" + "DEE100" + "developmental and epileptic encephalopathy 100" + "4-fluoro-N-{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl}benzamide hydrochloride" "neoplasm of the paraganglion" "paraganglion tumour" "paraganglioma" @@ -123406,9 +123409,6 @@ "tumor of the paraganglion" "tumour of paraganglion" "paraganglion neoplasm" - "DEE100" - "developmental and epileptic encephalopathy 100" - "4-fluoro-N-{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl}benzamide hydrochloride" "thoracic aortic raised lesions" "acquired hemangioma" "Absent/underdeveloped tailbone" @@ -123484,7 +123484,6 @@ "appendix adenoma" "vermiform appendix adenoma" "Paralysis or weakness of one side of body" - "blood serum collagen alpha-5(VI) chain amount" "tumor of the maxillary sinus" "tumor of maxillary sinus" "maxillary sinus neoplasm (disease)" @@ -123513,6 +123512,7 @@ "tumour of maxillary antrum" "maxillary antrum tumour" "neoplasm of maxillary antrum" + "blood serum collagen alpha-5(VI) chain amount" "blood serum cyclin-dependent kinase inhibitor 3 amount" "Phenobarbital" "5-ethyl-5-phenylpyrimidine-2,4,6(1H,3H,5H)-trione" @@ -123720,8 +123720,8 @@ "Aristolochia fimbriata Cham." "wooly hair, autosomal dominant" "woolly hair, autosomal dominant" - "HbSE disease" "blood serum putative melanoma-associated antigen 5P amount" + "HbSE disease" "blood serum fumarate hydratase, mitochondrial amount" "enuresis" "blood serum POTE ankyrin domain family member G amount" @@ -123899,7 +123899,6 @@ "CHDWR" "spinocerebellar ataxia type 13" "SCA13" - "blood serum glutathione-specific gamma-glutamylcyclotransferase 2 amount" "Gastroparesis" "Gastroparesis syndrome (disorder) [Ambiguous]" "Gastroparalysis" @@ -123909,6 +123908,7 @@ "gastric atonia" "gastroparalysis" "gastric atonia (disorder)" + "blood serum glutathione-specific gamma-glutamylcyclotransferase 2 amount" "CLARITHROMYCIN" "O(6)-methylerythromycin" "Clarithromycin" @@ -124203,9 +124203,9 @@ "pituitary gland disease" "pituitary gland disease or disorder" "disease or disorder of pituitary gland" - "Genetic anterior horn cell disease" "initial segment of nerve" "radix nervi" + "Genetic anterior horn cell disease" "hereditary spastic paraplegia caused by mutation in SPAST" "hereditary spastic paraplegia 4" "autosomal dominant spastic paraplegia type 4" @@ -124231,8 +124231,8 @@ "chondrosarcoma (disease) of periosteum" "periosteum chondrosarcoma (disease)" "juxtacortical chondrosarcoma" - "CMT2A1" "blood serum microtubule nucleation factor SSNA1 amount" + "CMT2A1" "craniotelencephalic dysplasia" "blood serum motor neuron and pancreas homeobox protein 1 amount" "Charcot-Marie-Tooth neuropathy type 2T" @@ -124260,8 +124260,6 @@ "inflammatory disorder of bone" "bone inflammatory disease" "pharyngeal pouches 6" - "Congenital stationary night blindness, Oguchi type" - "Oguchi syndrome" "Guillain-Barre syndrome, familial" "CIDP" "AIDP" @@ -124269,6 +124267,8 @@ "polyneuropathy, inflammatory demyelinating, acute" "neuropathy, inflammatory demyelinating" "chronic inflammatory demyelinating polyradiculoneuropathy" + "Congenital stationary night blindness, Oguchi type" + "Oguchi syndrome" "blood serum endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase amount" "eye infections" "ocular infection" @@ -124397,7 +124397,6 @@ "CDG-IIp" "CDG syndrome type IIp" "carbohydrate deficient glycoprotein syndrome type IIp" - "blood serum Rap guanine nucleotide exchange factor 1 amount" "Far Eastern TBE" "Tick-borne viral encephalitis" "Western European tick-borne encephalitis" @@ -124409,6 +124408,7 @@ "taiga encephalitis" "Russian spring-summer encephalitis" "tick-borne encephalitis" + "blood serum Rap guanine nucleotide exchange factor 1 amount" "SPAX5" "Autosomal recessive spastic ataxia type 5" "AFG3L2-associated spastic ataxia-neuropathy syndrome" @@ -124857,7 +124857,6 @@ "familial aneurysmal subarachnoid haemorrhage" "familial berry aneurysm" "blood serum Ras-related protein Rab-14 amount" - "N-Acetyl-L-tyrosine measurement" "malignant melanoma of cornea" "melanoma of the cornea" "cornea melanoma (disease)" @@ -124868,6 +124867,7 @@ "cornea melanoma" "corneal melanoma" "melanoma of cornea" + "N-Acetyl-L-tyrosine measurement" "phosphatidylcholine 32:0" "culture supernatant" "Cardiac leiomyosarcoma" @@ -124876,13 +124876,13 @@ "heart leiomyosarcoma" "Leukotriene C4 synthase deficiency" "LTC4 synthase deficiency" + "ALS26" "Morvan's fibrillary chorea" "MFC" "Morvan's syndrome" "Morvan syndrome" "MoS" "limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome" - "ALS26" "combined immunodeficiency due to LRBA deficiency" "CID due to LRBA deficiency" "skin diseases, fungal" @@ -125130,10 +125130,10 @@ "bronchioalveolar adenocarcinoma of the lung" "nonsyndromic esophageal malformation" "isolated esophageal malformation" - "blood serum zinc finger protein 843 amount" "scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome" "cardiomyopathy, dilated, 2G" "CMD2G" + "blood serum zinc finger protein 843 amount" "rostral lateral line nerve" "nepovirus arabis mosaic virus ArMV" "AMV" @@ -125209,8 +125209,8 @@ "cervical adenosquamous carcinoma" "adenosquamous cell carcinoma of the cervix uteri" "adenosquamous cell carcinoma of cervix" - "adenosquamous cell carcinoma of the cervix" "adenosquamous cell carcinoma of the uterine cervix" + "adenosquamous cell carcinoma of the cervix" "adenosquamous carcinoma of cervix" "cervix adenosquamous cell carcinoma" "adenosquamous cell carcinoma of uterine cervix" @@ -125782,9 +125782,9 @@ "大胞子" "megaspora" "blood serum MOB kinase activator 1B amount" + "Thong-Douglas-Ferrante syndrome" "pediatric lymphoma" "childhood lymphoma" - "Thong-Douglas-Ferrante syndrome" "pancreatic mixed squamous and adenocarcinoma" "pancreatic adenosquamous carcinoma" "pancreas adenosquamous carcinoma" @@ -126175,6 +126175,8 @@ "Klippel-Feil Sequence" "blood serum acyl-CoA-binding domain-containing protein 4 amount" "Hamon Cancer Center 2429" + "OPSD" + "OPD spectrum disorder" "neoplasm of the cerebrum" "tumour of telencephalon" "tumour of cerebral hemispheres" @@ -126206,8 +126208,6 @@ "cerebral neoplasms" "cerebral tumour" "neoplasm of cerebral hemisphere" - "OPSD" - "OPD spectrum disorder" "inflammation of brain" "brain inflammation" "tattoo dysplasia" @@ -126381,14 +126381,14 @@ "lateral line ganglia" "LLG" "establishment of localisation in cell" - "ARSACS" - "autosomal recessive spastic ataxia type 6" - "SPAX6" - "Charlevoix-Saguenay spastic ataxia" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11" "B3GALNT2 muscular dystrophy-dystroglycanopathy, type A" "muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2" + "ARSACS" + "autosomal recessive spastic ataxia type 6" + "SPAX6" + "Charlevoix-Saguenay spastic ataxia" "Human respiratory syncytial virus (subgroup A / strain Long)" "hereditary thymoma (disease)" "thymoma, familial" @@ -126406,17 +126406,6 @@ "Burkitt lymphoma/leukaemia" "Burkitt's tumor" "pulmo" - "blood serum cyclin-dependent kinase 2-interacting protein amount" - "syndrome associated with esophageal malformation" - "syndromic esophageal malformation" - "blood serum neuroligin-4, Y-linked amount" - "infantile hemiplegia" - "hemiplegia" - "postnatal infantile hemiplegia" - "JBTS4" - "JS-R" - "Joubert syndrome type 4" - "classic 21-OHD CAH, simple virilizing form" "RDS, respiratory distress syndrome Of newborns" "infant respiratory distress syndrome" "respiratory distress syndrome Of newborns (RDS)" @@ -126438,6 +126427,17 @@ "pulmonary hyaline membrane disease" "respiratory distress syndrome in the newborn" "Neonatal respiratory Distress syndrome" + "blood serum cyclin-dependent kinase 2-interacting protein amount" + "syndrome associated with esophageal malformation" + "syndromic esophageal malformation" + "infantile hemiplegia" + "hemiplegia" + "postnatal infantile hemiplegia" + "blood serum neuroligin-4, Y-linked amount" + "JBTS4" + "JS-R" + "Joubert syndrome type 4" + "classic 21-OHD CAH, simple virilizing form" "blood serum protein phosphatase 1 regulatory subunit 1A amount" "elevated Platelet count" "Thrombocythaemia" @@ -126716,10 +126716,6 @@ "clear cell adenocarcinoma of uterine cervix" "clear cell adenocarcinoma of the uterine cervix" "cervix uteri clear cell adenocarcinoma" - "monostotic fibrous dysplasia (disease)" - "monostotic fibrous dysplasia" - "monostotic fibrous dysplasia of bone" - "Jaffe-Lichtenstein disease" "Tinea disease or disorder" "tinea infection" "Tinea caused disease or disorder" @@ -126729,14 +126725,11 @@ "Tinea" "Tinea infectious disease" "Dermatophytosis-tinea/ringworm" + "monostotic fibrous dysplasia (disease)" + "monostotic fibrous dysplasia" + "monostotic fibrous dysplasia of bone" + "Jaffe-Lichtenstein disease" "blood serum translocon-associated protein subunit alpha amount" - "lethal congenital contracture syndrome 1" - "lethal congenital contracture syndrome caused by mutation in GLE1" - "lethal congenital contracture syndrome type 1" - "multiple contracture syndrome, Finnish type" - "GLE1 lethal congenital contracture syndrome" - "LCCS1" - "Herva disease" "disorders, vascular hemostatic" "disorder, vascular hemostatic" "hemostatic disorder, vascular" @@ -126744,6 +126737,13 @@ "vascular hemostatic disorder" "hemostatic disorder" "vascular hemostatic disorders" + "lethal congenital contracture syndrome 1" + "lethal congenital contracture syndrome caused by mutation in GLE1" + "lethal congenital contracture syndrome type 1" + "multiple contracture syndrome, Finnish type" + "GLE1 lethal congenital contracture syndrome" + "LCCS1" + "Herva disease" "peripheral olfactory organ" "nasal sac" "nose" @@ -127900,10 +127900,6 @@ "disintegrin and metalloproteinase with thrombospondin motifs 13 measurement" "Diagnostic Techniques, Cardiovascular" "cardiovascular diagnostic technique" - "lymphoma of the nasal cavity" - "nasal cavity lymphoma" - "lymphoma of nasal cavity" - "primary nasal cavity lymphoma" "retroperitoneal space disease or disorder" "retroperitoneal disease" "disease of retroperitoneal space" @@ -127912,6 +127908,10 @@ "disease or disorder of retroperitoneal space" "retroperitoneal disorder" "GM17214 cell" + "lymphoma of the nasal cavity" + "nasal cavity lymphoma" + "lymphoma of nasal cavity" + "primary nasal cavity lymphoma" "low grade glioma" "low-grade glioma" "lateral rectus muscle innervation disorder" @@ -128095,12 +128095,6 @@ "California quail" "selective IgM deficiency disease" "selective immunoglobulin M deficiency" - "thymoma, mixed type" - "primary thymic epithelial tumor type AB" - "primary thymic epithelial tumour type AB" - "mixed type thymoma" - "primary thymic epithelial neoplasm type AB" - "thymoma type AB" "axon pathfinding" "Best Vitelliform Macular Dystrophy" "polymorphic vitelline macular degeneration" @@ -128116,6 +128110,12 @@ "macular dystrophy, vitelliform, type 2" "macular degeneration, polymorphic vitelline" "BEST1 retinopathy" + "thymoma, mixed type" + "primary thymic epithelial tumor type AB" + "primary thymic epithelial tumour type AB" + "mixed type thymoma" + "primary thymic epithelial neoplasm type AB" + "thymoma type AB" "High output heart failure (disorder)" "high output heart failure" "high output cardiac failure" @@ -128853,12 +128853,12 @@ "ADCL" "blood serum three prime repair exonuclease 2 amount" "blood serum glutaminase kidney isoform, mitochondrial amount" + "secondary AVN" "embryonal rhabdomyosarcoma (disease)" "rhabdomyosarcoma, somatic" "ERMS" "embryonal rhabdomyosarcoma" "rhabdomyosarcoma, embryonal, type 1" - "secondary AVN" "benign testicular tumor" "testis benign neoplasm" "benign tumor of testis" @@ -128950,16 +128950,16 @@ "TUBB3 congenital fibrosis of extraocular muscles" "congenital fibrosis of extraocular muscles caused by mutation in TUBB3" "fibrosis of extraocular muscles, congenital, 3A" + "seq_library_selection" + "Geotrichosis (disorder)" + "Geotrichosis" + "geotrichosis" "HE" "Hashimoto Encephalopathy" "congenital elliptocytosis" "hereditary ovalocytosis" "ovalocytosis" - "seq_library_selection" "regenerating fins" - "Geotrichosis (disorder)" - "Geotrichosis" - "geotrichosis" "RTLA" "rvFTD" "Frontotemporal dementia, right temporal atrophy variant" @@ -129446,12 +129446,12 @@ "Peyronie's fibromatosis" "penile induration" "ml/kg" + "blood serum peroxisomal carnitine O-octanoyltransferase amount" "Anterior uveitis [Ambiguous]" "anterior uveitis (disease)" "anterior uveitis" "Anterior uveitis, NOS" "Uveitis, Anterior" - "blood serum peroxisomal carnitine O-octanoyltransferase amount" "mucin-producing carcinoma" "GM17217 cell" "HDL4" @@ -129662,9 +129662,9 @@ "vulvar tumour" "vulva tumor" "mammalian vulva tumor" - "tumour of vulva" - "mammalian vulva neoplasm" "vulvar tumor" + "mammalian vulva neoplasm" + "tumour of vulva" "vulval neoplasm" "mammalian vulva tumour" "mammalian vulva neoplasm (disease)" @@ -129795,13 +129795,13 @@ "Familial cutaneous amyloidosis" "XLPDR" "blood serum 5-hydroxytryptamine receptor 6 amount" - "inflammation of lymph node" "lymph node inflammation" "lymphadenitis (disease)" "adenitis" "lymph nodeitis" "Inflammation of lymph node" "lymphadenitis" + "inflammation of lymph node" "Deafness - dystonia - optic neuronopathy syndrome" "DDON syndrome" "LPC 20:4" @@ -129854,6 +129854,7 @@ "nail disorder, nonsyndromic congenital, type 8" "familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form" "congenital primary megalo-ureter" + "TGP measurement" "hand-foot-genital syndrome" "HFGS" "hand-foot-uterus syndrome" @@ -129886,7 +129887,6 @@ "zeugopod of forelimb" "lower arm" "blood serum phosphatidylinositol 5-phosphate 4-kinase type-2 beta amount" - "TGP measurement" "non-small cell lung cancer" "non-small cell lung carcinoma (disease)" "non-small cell cancer of lung" @@ -129964,11 +129964,11 @@ "FIH2" "hypoparathyroidism, familial isolated 2" "hypoparathyroidism, familial isolated, 2" - "SU-DHL-10" "focal dermal hypoplasia" "Goltz-Gorlin syndrome" "focal dermal hypoplasia, X-linked dominant" "Goltz syndrome" + "SU-DHL-10" "deafness-infertility syndrome" "dis" "deafness and male infertility" @@ -130721,10 +130721,10 @@ "continuous muscle fiber activity" "episodic ataxia with myokymia" "blood serum WAP four-disulfide core domain protein 5 amount" - "Hearing abnormality" - "Abnormal hearing" "LGMD2U" "Autosomal recessive limb-girdle muscular dystrophy type 2U" + "Hearing abnormality" + "Abnormal hearing" "Actinobacillus pleuropneumoniae serotype 5" "Actinobacillus pleuropneumoniae 5" "dioxidocarbon" @@ -131042,8 +131042,6 @@ "inborn error of sterol metabolic process" "rare inborn error of sterol metabolic process" "inborn sterol metabolic process disorder" - "Pelger-Huet anomaly" - "Pelger-Huet Anomaly" "malignant soft tissue tumor of CNS" "malignant soft tissue neoplasm of CNS" "malignant central nervous system soft tissue tumour" @@ -131070,6 +131068,8 @@ "malignant central nervous system soft tissue neoplasm" "central nervous system mesenchymal non-meningothelial tumor, malignant" "malignant CNS soft tissue neoplasm" + "Pelger-Huet anomaly" + "Pelger-Huet Anomaly" "scleroatonic muscular dystrophy" "UCMD" "Ullrich scleroatonic muscular dystrophy" @@ -131249,16 +131249,16 @@ "camptosynpolydactyly, complex" "EDS, classic-like type" "Ehlers-Danlos syndrome, classic-like type" - "afferent glomerular arteriole" - "arteriola glomerularis afferens renis" - "afferent glomerular arteriole of kidney" - "kidney afferent arteriole" - "afferent arteriole" "CD4-negative, CD8-negative type I NKT cell secreting interleukin-4" "CD4-negative, CD8-negative type I NK T-lymphocyte secreting interleukin-4" "CD4-negative, CD8-negative type I NK T-cell secreting interleukin-4" "CD4-negative, CD8-negative type I NK T lymphocyte secreting interleukin-4" "CD4-negative, CD8-negative type I NK T cell secreting IL-4" + "afferent glomerular arteriole" + "arteriola glomerularis afferens renis" + "afferent glomerular arteriole of kidney" + "kidney afferent arteriole" + "afferent arteriole" "leukodystrophy due to alkaline ceramidase 3 deficiency" "ACER3-related early childhood-onset progressive leukodystrophy" "blood serum SHC-transforming protein 4 amount" @@ -131324,14 +131324,14 @@ "Asperger syndrome" "Asperger disorder" "blood serum zinc finger protein 276 amount" + "Dentatorubropallidoluysian atrophy" + "Naito-Oyanagi disease" + "DRPLA" "Leiomyosarcomas" "leiomyosarcoma - not uterine" "leiomyosarcoma" "leiomyosarcoma (excluding uterine leiomyosarcoma)" "leiomyosarcoma, malignant" - "Dentatorubropallidoluysian atrophy" - "Naito-Oyanagi disease" - "DRPLA" "Boyes Arabidopsis Growth Stage 9.7" "Arabidopsis Growth principal growth stage 9" "Togaviridae Infections" @@ -131860,6 +131860,8 @@ "aminoacylase 2 deficiency" "aspartoacylase deficiency" "spongy degeneration of central nervous system" + "Del(14)(q11.2)" + "Monosomy 14q11.2" "hyperinsulinemia hypoglycemia" "Nesidioblastosis" "hyperinsulinemic hypoglycemia" @@ -131871,8 +131873,6 @@ "process resulting in protein modification" "cellular protein modification process" "protein modification" - "Del(14)(q11.2)" - "Monosomy 14q11.2" "Cayman cerebellar ataxia" "ataxia, cerebellar, Cayman type" "Cayman type cerebellar ataxia" @@ -132182,9 +132182,9 @@ "pleuro-pulmonary blastoma familial tumor susceptibility syndrome" "GM14439 cell" "blood serum biotinidase amount" + "CBA Jackson" "Atlantic salmon" "Salmo salar Linnaeus, 1758" - "CBA Jackson" "DEE44" "EIEE44" "early infantile epileptic encephalopathy caused by mutation in UBA5" @@ -132384,13 +132384,6 @@ "retinitis pigmentosa 91" "thyroglossal tract cyst" "thyroglossal duct cyst" - "CDG2D" - "CDG syndrome type IId" - "Carbohydrate deficient glycoprotein syndrome type IId" - "Beta-1,4-galactosyltransferase deficiency" - "CDG-IId" - "Congenital disorder of glycosylation type IId" - "Congenital disorder of glycosylation type 2d" "speech-language disorder type 1" "developmental verbal dyspraxia" "speech and language disorder with orofacial dyspraxia" @@ -132400,6 +132393,13 @@ "acute eustachian tube salpingitis" "acute otosalpingitis" "telomeres" + "CDG2D" + "CDG syndrome type IId" + "Carbohydrate deficient glycoprotein syndrome type IId" + "Beta-1,4-galactosyltransferase deficiency" + "CDG-IId" + "Congenital disorder of glycosylation type IId" + "Congenital disorder of glycosylation type 2d" "tert-butyl hydroperoxide" "myofibrillar myopathy type 2" "autosomal dominant distal myopathy caused by mutation in CRYAB" @@ -132534,8 +132534,8 @@ "upper digestive tract disease or disorder" "disorder of upper gastrointestinal tract" "disease of upper digestive tract" - "whole genome" "blood serum interferon alpha-8 amount" + "whole genome" "kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency" "EDS, kyphoscoliotic type" "Ehlers-Danlos syndrome, kyphoscoliotic type 1" @@ -132733,9 +132733,9 @@ "COBALAMIN" "Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-cobamide" "cobalamin" + "epidermoid carcinoma of the conjunctiva" "epidermoid carcinoma of conjunctiva" "conjunctival squamous cell cancer" - "epidermoid carcinoma of the conjunctiva" "invasive squamous cell carcinoma of the conjunctiva" "conjunctiva epidermoid carcinoma" "ocular surface squamous neoplasia" @@ -132833,13 +132833,13 @@ "late infantile NCL" "oligosaccharide metabolism" "Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria" + "Monosomy 2q24" + "Del(2)(q24)" + "chronic acute hepatic porphyria" + "acute hepatic porphyria, chronic" "oligodendroglioma of the brain" "oligodendroglioma of brain" "brain oligodendroglioma" - "chronic acute hepatic porphyria" - "acute hepatic porphyria, chronic" - "Monosomy 2q24" - "Del(2)(q24)" "blood serum pre-mRNA-splicing regulator WTAP amount" "blood serum sorting nexin-27 amount" "spindle cell nevus" @@ -133008,14 +133008,14 @@ "Dermatomyositis, Childhood Type" "childhood Dermatomyositis" "Childhood Type Dermatomyositis" - "WC00065" - "EST84" "cortical dysplasia, Complex, with Other brain malformations type 1" "TUBB3 complex cortical dysplasia with other brain malformations" "CDCBM1" "complex cortical dysplasia with other brain malformations caused by mutation in TUBB3" "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation" "complex cortical dysplasia with other brain malformations type 1" + "WC00065" + "EST84" "fibular artery" "arteria fibularis" "thymus papillary adenocarcinoma" @@ -133193,13 +133193,13 @@ "autosomal dominant disease with focal palmoplantar keratoderma as a major feature" "disease with focal palmoplantar keratoderma as a major feature, autosomal dominant" "autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature" + "Longman-Tolmie syndrome" "Aleijadinhos (Brazilian type)" "acheiropodia" "Horn-Kolb Syndrome" "Acheiropody" "acheiropody" "Toes absent" - "Longman-Tolmie syndrome" "colon villous adenoma" "villous adenoma of the colon" "colonic villous adenoma" @@ -133255,8 +133255,6 @@ "endometrioid stromal sarcoma of the vagina" "endometrioid stromal sarcoma of vagina" "3-HPMA measurement" - "Dietary" - "Diets" "lipodystrophy, cephalothoracic type" "Barraquer-Simons syndrome" "partial progressive lipodystrophy" @@ -133264,6 +133262,8 @@ "APLD, susceptibility to" "single cell ATAC-seq (cell index)" "sci-ATAC-seq" + "Dietary" + "Diets" "blood serum DnaJ homolog subfamily C member 17 amount" "pupa stage" "longissimus thoracis" @@ -133516,14 +133516,14 @@ "benign tumor of the adrenal gland" "benign adrenal gland tumor" "benign tumour of the adrenal gland" - "Hereditary vascular retinopathy - Raynaud phenomenon - migraine" - "HVR" "PAX5 precursor B-cell acute lymphoblastic leukaemia" "precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5" "leukemia, acute lymphoblastic, susceptibility to, 3" "precursor B-cell acute lymphoblastic leukaemia caused by mutation in PAX5" "leukemia, acute lymphoblastic, susceptibility to, type 3" "PAX5 precursor B-cell acute lymphoblastic leukemia" + "Hereditary vascular retinopathy - Raynaud phenomenon - migraine" + "HVR" "granular-lattice corneal dystrophy" "CGD2" "combined granular-lattice corneal dystrophy" @@ -133909,8 +133909,8 @@ "VLDL particle size measurement" "Shef-1" "SHEF1" - "blood serum protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 amount" "disorder of bilirubin metabolism" + "blood serum protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 amount" "chromosome 5p13 duplication syndrome, isolated cases" "trisomy 5p13" "5p13 microduplication syndrome" @@ -134626,12 +134626,12 @@ "benign Thymus tumour" "benign Thymus tumor" "blood serum T-complex protein 1 subunit alpha amount" - "sole" "sole of foot" "plantar part of foot" "regio plantaris" "planta" "plantar region" + "sole" "sodium 3alpha,7alpha,12alpha-trihydroxy-5beta-cholan-24-oate" "sodium cholate" "Abnormality of upper limb bone" @@ -134837,8 +134837,8 @@ "primary antibody deficiency" "GM14433 cell" "pancreas undifferentiated carcinoma" - "pancreatic carcinosarcoma" "undifferentiated carcinoma of pancreas" + "pancreatic carcinosarcoma" "spindle cell pancreatic carcinoma" "undifferentiated carcinoma of the pancreas" "undifferentiated (anaplastic) pancreatic carcinoma" @@ -134867,8 +134867,8 @@ "chronic progressive multiple sclerosis" "Multiple Sclerosis, Remittent Progressive" "Multiple Sclerosis, Secondary Progressive" - "Remittent Progressive Multiple Sclerosis" "Primary Progressive Multiple Sclerosis" + "Remittent Progressive Multiple Sclerosis" "blood serum parathyroid hormone/parathyroid hormone-related peptide receptor amount" "blood serum myosin light polypeptide 6 amount" "PYCR1 de Barsy syndrome" @@ -135003,9 +135003,9 @@ "epidermoid carcinoma of the kidney pelvis" "kidney pelvis epidermoid carcinoma" "epidermoid carcinoma of renal pelvis" + "squamous cell carcinoma of the kidney pelvis" "squamous cell carcinoma of renal pelvis" "renal pelvis squamous cell cancer" - "squamous cell carcinoma of the kidney pelvis" "epidermoid carcinoma of kidney pelvis" "kidney pelvis squamous cell carcinoma" "disorder of endometrium" @@ -135514,9 +135514,9 @@ "Biliary duct atresia" "Rare autism spectrum disorder" "GM00144 cell" + "Abnormality of the occipital bone" "CMD-CRB" "CMD with cerebellar involvement" - "Abnormality of the occipital bone" "vulva" "female pudendum" "mammalian vulva" @@ -135824,10 +135824,10 @@ "caudal hematopoietic tissue" "blood serum spindlin-1 amount" "blood serum butyrophilin subfamily 2 member A2 amount" - "high content screening protocol" - "high content screen library protocol" "Underdeveloped cerebrum" "Small cerebrum" + "high content screening protocol" + "high content screen library protocol" "Stegomyia albopicta" "forest day mosquito" "Asian tiger mosquito" @@ -135957,13 +135957,13 @@ "Erythrocyte Corpuscular Hemoglobin Content" "CHCNT" "CH" - "Bowed ulna" - "Curving of inner forearm bone" - "Curved ulna" "Mandibulofacial dysostosis with preaxial limb anomalies" "Nager acrofacial dysostosis" "Preaxial acrodysostosis" "NAFD" + "Bowed ulna" + "Curving of inner forearm bone" + "Curved ulna" "Segmentation:1-4 somites" "Zimmer phocomelia" "Endocrine Cancers" @@ -136192,10 +136192,10 @@ "Neoplasm, Thyroid" "Thyroid Neoplasms" "thyroid gland neoplasm (disease)" - "Uterine Cervical Incompetence" - "cervical incompetence" "Boyes Arabidopsis Growth Stage 1.09" "BBCH growth stage 19" + "Uterine Cervical Incompetence" + "cervical incompetence" "blood serum coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial amount" "Minocycline" "(4S,4aS,5aR,12aS)-4,7-bis(dimethylamino)-3,10,12,12a-tetrahydroxy-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide" @@ -136622,9 +136622,9 @@ "blepharochalasis-double lip syndrome" "blepharochalasis and Double type lip" "Ascher syndrome" + "2-aminoanthracene" "autosomal dominant Emery-Dreifuss muscular dystrophy" "Emery-Dreifuss muscular dystrophy, autosomal dominant" - "2-aminoanthracene" "blood serum ribonuclease K6 amount" "ND00151 cell" "liver lymphoma" @@ -136733,9 +136733,9 @@ "oesophagus small cell carcinoma" "Oat cell carcinoma of the esophagus" "esophagus small cell carcinoma" - "small cell carcinoma of the oesophagus" "esophagus Oat cell carcinoma" "esophageal small cell NEC" + "small cell carcinoma of the oesophagus" "esophageal Oat cell carcinoma" "Oat cell carcinoma of oesophagus" "small cell carcinoma of the esophagus" @@ -136986,9 +136986,9 @@ "Ralstonia solanacearum str. UW551" "blood serum deubiquitinase MYSM1 amount" "Double heterozygotes sickling disorder" - "Jancar syndrome" "suppression of urinary secretion" "anuria" + "Jancar syndrome" "laryngeal dyskinesia" "spasmodic dysphonia" "spastic dysphonia" @@ -137185,9 +137185,9 @@ "SCA2" "ventricular myocardium" "ventricle myocardium" + "129/J" "Endometrial Adenoacanthoma" "Adenocanthoma of Endometrium" - "129/J" "pancreatic mucinous cystadenoma" "mucinous cystadenoma of pancreas" "pancreas mucinous cystadenoma" @@ -137644,8 +137644,6 @@ "Familial cold autoinflammatory syndrome" "FCAS1" "FCU" - "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" - "type A insulin resistance syndrome" "PBC" "chronic non-suppurative destructive cholangitis" "cholestatic cirrhosis" @@ -137655,6 +137653,8 @@ "primary biliary cirrhosis" "primary Bilary cirrhosis (PBC)" "chronic nonsuppurative destructive cholangitis" + "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" + "type A insulin resistance syndrome" "Smith-McCort dysplasia caused by mutation in DYM" "DYM Smith-McCort dysplasia" "Smith-McCort dysplasia type 1" @@ -138161,7 +138161,6 @@ "Hb S-Beta thalassemia" "sickle cell-Beta thalassemia" "Pseudomonas aeruginosa PA14 infection" - "SANDO" "atrial fibrillation, familial, type 12" "familial atrial fibrillation caused by mutation in ABCC9" "atrial fibrillation, familial, 12" @@ -138170,6 +138169,7 @@ "tectum" "neuraxis tectum" "tectum mesencephali" + "SANDO" "GM23245" "UKE-1" "ALI" @@ -138407,9 +138407,9 @@ "acinic cell tumor of salivary gland" "salivary gland acinic cell tumor" "acinic cell carcinoma of the salivary gland" - "salivary gland acinic cell carcinoma" "salivary gland acinic cell cancer" "acinic cell carcinoma of salivary gland" + "salivary gland acinic cell carcinoma" "blood serum adenylate kinase 4, mitochondrial amount" "MCT" "T mast cells" @@ -139150,10 +139150,10 @@ "SERKAL syndrome" "Sex reversion-kidneys, adrenal and lung dysgenesis syndrome" "r1" - "blood serum choriogonadotropin subunit beta amount" "Gait apraxia (finding)" "Gait Apraxia" "gait apraxia" + "blood serum choriogonadotropin subunit beta amount" "blood serum hydroxysteroid dehydrogenase-like protein 2 amount" "nonmelanoma skin carcinoma" "nonmelanoma skin cancer" @@ -139299,6 +139299,10 @@ "MDC1B" "CMD1B" "eye allergy" + "cranial NCC population" + "CNC" + "cephalic neural crest" + "head NCC population" "Catel Manzke Syndrome" "hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" "micrognathia digital syndrome" @@ -139307,10 +139311,6 @@ "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome" "index finger anomaly-Pierre Robin syndrome" "Catel-Manzke syndrome" - "cranial NCC population" - "CNC" - "cephalic neural crest" - "head NCC population" "adenocarcinoma of nasal cavity" "adenocarcinoma of the nasal cavity" "nasal cavity adenocarcinoma" @@ -139363,6 +139363,7 @@ "malunion of fracture" "fracture, malunion" "malunion of broken bone" + "CMT1F" "vaginal carcinosarcoma" "vaginal malignant mixed mesodermal (Müllerian) tumour" "vaginal malignant mixed mesodermal (Müllerian) tumor" @@ -139372,7 +139373,6 @@ "lymphoma of digestive system" "primary digestive system lymphoma" "blood serum laminin subunit alpha-3 amount" - "CMT1F" "DistanceUnit" "blood serum C1q-related factor amount" "familial lipoprotein lipase deficiency with type I phenotype" @@ -139672,11 +139672,10 @@ "aminoacetic acid" "GLYCINE" "nucleobase, nucleoside and nucleotide metabolism" - "parasitic eye infection" "blood serum thioredoxin-related transmembrane protein 1 amount" + "parasitic eye infection" "genetic renal tubular dysgenesis" "renal tubular dysgenesis of genetic origin" - "germ cell tumor of the mediastinum" "mediastinum germ cell tumour" "germ cell tumour of the mediastinum" "germ cell neoplasm of mediastinum" @@ -139688,6 +139687,7 @@ "mediastinal germ cell tumor" "thymic germ cell tumor" "mediastinum germ cell tumor" + "germ cell tumor of the mediastinum" "JPT" "vaginal glandular tumor" "vaginal glandular neoplasm" @@ -139765,11 +139765,11 @@ "PAI-1 measurement" "PAI1 measurement" "blood serum C-type lectin domain family 4 member C amount" - "Carpal bone osteolysis" "Waardenburg-Hirschsprung syndrome" "Waardenburg syndrome type 4" "Shah-Waardenburg syndrome" "WS4" + "Carpal bone osteolysis" "acrocardiofacial syndrome" "ACFS" "cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome" @@ -140009,11 +140009,11 @@ "blood serum leukotriene B4 receptor 1 amount" "ectodermal dysplasia-skin fragility syndrome" "McGrath syndrome" - "TAG 56:6" "lymphoma of eyeball of camera-type eye" "eyeball of camera-type eye lymphoma" "eye lymphoma" "primary eye lymphoma" + "TAG 56:6" "level of phosphatidylinositol 16:0_18:1 in blood serum" "blood serum phosphatidylinositol 16:0_18:1 amount" "Del(2)(q31.1)" @@ -140322,6 +140322,9 @@ "blood serum methionine-R-sulfoxide reductase B1 amount" "Bleeding below the skin" "Subcutaneous haemorrhage" + "CHO/IR" + "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" + "squamous cell carcinoma of liver and IBT" "Accelerated skeletal maturation - peculiar facies - failure to thrive" "HS" "hidradenitis suppurativa" @@ -140332,9 +140335,6 @@ "hidradenitis" "verneuil disease" "fox den disease" - "CHO/IR" - "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" - "squamous cell carcinoma of liver and IBT" "hereditary thrombotic thrombocytopenic purpura" "congenital ADAMTS13 deficiency" "Upshaw-Schulman syndrome" @@ -140983,10 +140983,10 @@ "thale-cress" "Arbisopsis thaliana" "recurrent Neisseria infections due to factor D deficiency" - "hypertelorism and tetralogy of fallot" "non-small cell squamous lung cancer" "non-small cell squamous lung carcinoma" "squamous non-small cell lung carcinoma" + "hypertelorism and tetralogy of fallot" "46,XY sex reversal 3" "46XY sex reversal 3" "46,XY Sex reversal type 3" @@ -141105,6 +141105,8 @@ "Absent/underdeveloped thumb" "Hypoplastic to aplastic thumbs" "Absent or hypoplastic thumbs" + "non poly adenylated RNA" + "blood serum heat shock protein beta-6 amount" "Early Childhood, Myoclonic Epilepsy" "Epilepsy, Early Childhood, Myoclonic" "Epilepsy, Myoclonic, Infantile, Benign" @@ -141132,8 +141134,6 @@ "Severe Myoclonic Epilepsy, Infantile" "Myoclonic Epilepsy, Infantile, Benign" "Benign Infantile Myoclonic Epilepsy" - "non poly adenylated RNA" - "blood serum heat shock protein beta-6 amount" "cystic renal cell carcinoma" "Car2" "CAII" @@ -141251,8 +141251,8 @@ "catena-poly[(oxidoarsenate-mu-oxido)]sodium" "Sodium arsenite" "Inability to walk by childhood/adolescence" - "GM17199 cell" "Bosma Arhinia Microphthalmia Syndrome" + "GM17199 cell" "Connatal PMD" "Severe PMD" "Pelizaeus-Merzbacher disease type II" @@ -141347,7 +141347,6 @@ "OA1" "Ocular albinism type 1" "Ocular albinism, Nettleship-Falls type" - "blood serum MARCKS-related protein amount" "SGBS" "Simpson-Golabi-Behmel syndrome type 1" "Golabi-Rosen syndrome" @@ -141356,6 +141355,7 @@ "DGSX" "Simpson dysmorphia syndrome" "SDYS" + "blood serum MARCKS-related protein amount" "peroxisome biogenesis disorder 3A (Zellweger)" "infant intestinal toxin-mediated botulism" "infantile onset botulism" @@ -141503,9 +141503,9 @@ "CIN" "cervical squamous intraepithelial lesion" "squamous intraepithelial lesion of the uterine cervix" - "uterine cervix squamous intraepithelial lesion" "squamous intraepithelial lesion of the cervix uteri" "cervix squamous intraepithelial lesion" + "uterine cervix squamous intraepithelial lesion" "blood serum glucosamine-6-phosphate isomerase 1 amount" "renal dysplasia-limb defects syndrome" "renal dysplasia-mesomelia-radiohumeral fusion syndrome" @@ -141885,11 +141885,11 @@ "2-oxopropanal" "methylglyoxal" "Methylglyoxal" + "hereditary ovarian carcinoma" + "familial ovarian carcinoma" "sleep-wake schedule disorder" "circadian sleep disorder" "disorders of the sleep-wake schedule" - "hereditary ovarian carcinoma" - "familial ovarian carcinoma" "blood serum NF-kappa-B essential modulator amount" "PBCRA" "CRAPB" @@ -142000,11 +142000,11 @@ "CNS demyelinating autoimmune disease" "Demyelinating Autoimmune Diseases, CNS" "blood serum N-acetylated-alpha-linked acidic dipeptidase 2 amount" - "Van Benthem-Driessen-Hanveld syndrome" "Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome" "AEC syndrome" "Hay-Wells syndrome" "AEC Syndrome" + "Van Benthem-Driessen-Hanveld syndrome" "portion of plant callus tissue" "blood serum SH3 domain-binding glutamic acid-rich-like protein 2 amount" "DKCB4" @@ -142022,8 +142022,8 @@ "Absent ribs" "Oculo-oto-radial syndrome" "Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" - "Epidermolysis bullosa simplex, herpetiformis" "surfactant" + "Epidermolysis bullosa simplex, herpetiformis" "Mouse Erythroleukemia cell line" "MEL" "popliteal pterygium syndrome, autosomal dominant" @@ -142119,9 +142119,9 @@ "Hispanic Populations" "Hispanic or Latino" "Hispanic" - "cerebral sarcoidosis" "sarcoidosis of telencephalon" "telencephalon sarcoidosis" + "cerebral sarcoidosis" "blood serum ragulator complex protein LAMTOR2 amount" "AML, t(16;21)(p11.2;q22.2)" "AML, t(16;21)(p11;q22)" @@ -142376,14 +142376,6 @@ "Eye Colors" "Color, Eye" "blood serum transmembrane emp24 domain-containing protein 9 amount" - "CMT" - "Charcot-Marie-Tooth hereditary neuropathy" - "lymphangioendothelial sarcoma" - "malignant lymphangioendothelioma" - "lymphangiosarcoma, malignant" - "lymphangiosarcoma" - "lymphangiosarcoma of Stewart and Treves" - "Stewart-Treves syndrome" "Simian immunodeficiency virus caused disease or disorder" "Simian immunodeficiency virus infectious disease" "simian immunodeficiency virus infection" @@ -142391,6 +142383,14 @@ "SIV" "Malformation of brainstem structures" "Brainstem hypoplasia/dysplasia" + "lymphangioendothelial sarcoma" + "malignant lymphangioendothelioma" + "lymphangiosarcoma, malignant" + "lymphangiosarcoma" + "lymphangiosarcoma of Stewart and Treves" + "Stewart-Treves syndrome" + "CMT" + "Charcot-Marie-Tooth hereditary neuropathy" "blood serum target of Myb1 membrane trafficking protein amount" "hereditary mitral valve disease" "congenital anomaly of mitral valve" @@ -142497,6 +142497,8 @@ "blood serum pituitary adenylate cyclase-activating polypeptide type I receptor amount" "blood serum UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit amount" "Neisseria lactamicus" + "HDL2" + "Huntington's disease-like 2" "ribonucleoside formation" "ribonucleoside synthesis" "ribonucleoside biosynthesis" @@ -142521,8 +142523,6 @@ "SUM-44PE" "SUM-44" "SUM 44" - "HDL2" - "Huntington's disease-like 2" "aortic insufficiency" "rheumatic aortic regurgitation" "Rheumatic aortic insufficiency" @@ -143264,8 +143264,8 @@ "myocardium neoplasm" "myocardial neoplasm" "tumour of the myocardium" - "myocardium tumour" "myocardial tumour" + "myocardium tumour" "myocardium tumor" "tumor of myocardium" "myocardial tumor" @@ -143336,12 +143336,12 @@ "Delusions" "neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures" "LNZ-308" + "blood serum defensin beta 118 amount" "Ureaplasma urethritis" "Ureaplasma disease or disorder" "Ureaplasma Infections" "Ureaplasma infectious disease" "Ureaplasma caused disease or disorder" - "blood serum defensin beta 118 amount" "microeinstein per second and square meter" "distal arthrogryposis type IID" "distal arthrogryposis type 4" @@ -143549,14 +143549,14 @@ "urethral urothelial cancer" "transitional cell carcinoma of the urethra" "Brain inflammation" + "primary chronic pseudo-obstruction of colon (disorder)" + "Colonic Pseudo-Obstruction" "congenital arthromyodysplasia" "multiple congenital arthrogryposis" "Arthromyodysplasia congenita" "myodysplasia" "AMC" "arthrogryposis multiplex congenita" - "primary chronic pseudo-obstruction of colon (disorder)" - "Colonic Pseudo-Obstruction" "Pyothorax" "pleural empyema (disease)" "abscess of pleural cavity" @@ -143617,8 +143617,8 @@ "AIR" "autoimmune disease of retina" "retina autoimmune disease" - "blood serum draxin amount" "Thick helix" + "blood serum draxin amount" "Leishmania (Leishmania) mexicana" "mouth carcinoma" "carcinoma of oral cavity" @@ -143749,9 +143749,9 @@ "dilated cardiomyopathy type 2A" "cardiomyopathy, dilated, type 2A" "inner ear vestibular component" - "rachis" "X-linked ataxia-dementia syndrome" "SCAX4" + "rachis" "ITM2B-related cerebral amyloid angiopathy" "ITM2B-related amyloidosis" "familial cerebral amyloid angiopathy" @@ -144018,8 +144018,8 @@ "CD4-positive, CD25-positive, alpha-beta regulatory T-cell" "CD4-positive, CD25-positive, alpha-beta regulatory T lymphocyte" "CD4-positive, CD25-positive, alpha-beta regulatory T-lymphocyte" - "MRXS9" "GM17171 cell" + "MRXS9" "leiomyoma of the lung" "pulmonary leiomyoma" "leiomyoma of lung" @@ -144436,13 +144436,13 @@ "Lycopersicum esculentum" "polymorphic light eruption" "polymorphous light eruption" + "Oculopharyngeal distal myopathy" + "OPDM" "congenital pulmonary alveolar proteinosis" "congenital PAP" "inborn error of pulmonary surfactant metabolism" "inborn error of surfactant metabolism" "hereditary pulmonary alveolar proteinosis" - "Oculopharyngeal distal myopathy" - "OPDM" "rheumatic disease" "rheumatism" "rheumatic disorder" @@ -144648,6 +144648,7 @@ "set of basal ganglia" "basal ganglia" "ADA2 deficiency" + "oxyntic cell" "Klatskin's tumor" "hilar CC" "hilar portion of hepatic duct cholangiocarcinoma" @@ -144658,7 +144659,6 @@ "Klatskin tumour" "hilar CCA" "perihilar extrahepatic bile duct carcinoma" - "oxyntic cell" "Blepharophimosis types 1 and 2 due to polyA expansion" "partial deletion of chromosome type 19" "partial monosomy of chromosome 19" @@ -144859,8 +144859,8 @@ "GM10832 cell" "(2S)-2,3,4,4,4-pentadeuterio-3-(deuteriomethyl)-2-(dideuterioamino)butanoic acid" "blood serum integrin alpha-4 amount" - "isolated respiratory chain complex disorder" "blood serum V-type proton ATPase subunit C 2 amount" + "isolated respiratory chain complex disorder" "Candida infection" "Candidosis" "Candida infection" @@ -144959,8 +144959,8 @@ "NRAS Noonan syndrome" "benign neoplasm of cauda equina" "colloidal adenocarcinoma of the colon" - "colloid adenocarcinoma of colon" "colloid colon adenocarcinoma" + "colloid adenocarcinoma of colon" "colloid adenocarcinoma of the colon" "colon colloidal adenocarcinoma" "colonic colloidal adenocarcinoma" @@ -145075,12 +145075,12 @@ "vitreoretinal dysplasia" "German syndrome" "(3R)-3-(decanoyloxy)-4-(trimethylazaniumyl)butanoate" + "11H-Benzo[a]fluoren-11-ylacetic acid" "autosomal recessive spastic paraplegia 32" "hereditary spastic paraplegia type 32" "autosomal recessive spastic paraplegia type 32" "SPG32" "blood serum Sphingofungin B amount" - "11H-Benzo[a]fluoren-11-ylacetic acid" "schwannomatosis" "Schwannomatosis" "neurilemmomatosis" @@ -145288,11 +145288,11 @@ "carbohydrate metabolic process disease" "disorder of carbohydrate metabolism" "disorder of carbohydrate metabolic process" - "cingulate neocortex" "cholesteatoma (disease) of external ear" "cholesteatoma of external ear" "external canal cholesteatoma" "external ear cholesteatoma (disease)" + "cingulate neocortex" "verruca vulgaris" "common wart" "camptodactyly-cleft palate-clubfoot syndrome" @@ -145427,9 +145427,9 @@ "digestive system melanoma" "gastrointestinal melanoma" "GM17846 cell" - "marginal papular palmoplantar hyperkeratosis" "Camero-Lituania-Cohen syndrome" "Genoa syndrome" + "marginal papular palmoplantar hyperkeratosis" "melon necrotic spot virus MNSV" "MNSV" "Tuberculosis, Female Genital" @@ -145505,10 +145505,10 @@ "blood serum integrin beta-8 amount" "hereditary abdominal aortic aneurysm" "aortic aneurysm, familial abdominal" + "blood serum E3 ubiquitin ligase TRIM40 amount" "pulmonary mucoepidermoid carcinoma" "lung mucoepidermoid cancer" "lung mucoepidermoid carcinoma" - "blood serum E3 ubiquitin ligase TRIM40 amount" "Boil" "GM17779 cell" "Autosomal dominant pseudohypoaldosteronism type 1" @@ -145641,11 +145641,11 @@ "IBM3" "Hereditary inclusion body myopathy type 3" "HIBM3" - "NVP severity measurement" - "Morning sickness severity measurement" "Achlamydospora indica" "Achlamydospora indicum" "fungal endophyte pNS1-2" + "NVP severity measurement" + "Morning sickness severity measurement" "embryonic dorsal organ" "recombinase activating gene 1 deficiency" "blood serum growth arrest-specific protein 7 amount" @@ -146641,10 +146641,10 @@ "benign mouth tumour" "benign tumour of the oral cavity" "benign mouth tumor" - "benign tumour of oral cavity" "benign tumour of the mouth" - "benign tumor of oral cavity" + "benign tumour of oral cavity" "benign tumor of the mouth" + "benign tumor of oral cavity" "benign oral cavity tumor" "benign neoplasm of the mouth" "benign oral cavity tumour" @@ -147000,10 +147000,10 @@ "amyloidosis, MERETOJA type" "familial amyloidosis, Finnish type" "familial amyloid polyneuropathy type IV" + "GAMOS10" "typical endometrial hyperplasia" "endometrial hyperplasia without atypia" "GM17262 cell" - "GAMOS10" "peripheral demyelinating neuropathy" "Mesangiocapillary glomerulonephritis type 2" "membranoproliferative glomerulonephritis type 2" @@ -147284,17 +147284,17 @@ "AML, t(11;19)(q23;p13.1)" "somatic stem cell renewal" "Urrets-Zavalia syndrome" - "vesico-ureteral reflux" - "vesicoureteric reflux" - "vesicoureteral reflux (disease)" - "Vesico-Ureteral Reflux" - "vesicoureteral reflux" "JME" "myoclonic epilepsy, juvenile" "EJM" "juvenile myoclonus epilepsy" "myoclonic epilepsy, juvenile, 1" "epilepsy, myoclonic juvenile" + "vesico-ureteral reflux" + "vesicoureteric reflux" + "vesicoureteral reflux (disease)" + "Vesico-Ureteral Reflux" + "vesicoureteral reflux" "LCPS" "Porphyromonas gingivalis strain ATCC 33277" "Porphyromonas gingivalis str. ATCC 33277" @@ -148146,10 +148146,10 @@ "(2E,7R,11R)-3,7,11,15-tetramethylhexadec-2-en-1-ol" "blood serum electron transfer flavoprotein subunit alpha, mitochondrial amount" "CMT2C" + "labeling" "SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT" "autosomal dominant spastic paraplegia type 80" "SPG80" - "labeling" "Temtamy-Shalash syndrome" "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome" "temtamy syndrome" @@ -148340,8 +148340,8 @@ "benign neoplasm of the vagina" "vagina female reproductive organ benign neoplasm" "benign tumour of vagina" - "benign tumor of the vagina" "benign neoplasm of vagina" + "benign tumor of the vagina" "benign vaginal tumor" "benign vaginal tumour" "benign vaginal neoplasms" @@ -148395,8 +148395,8 @@ "Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome" "Laryngo-onycho-cutaneous syndrome" "Shabbir syndrome" - "NCI-H78" "blood serum high mobility group protein 20A amount" + "NCI-H78" "Senior-Loken syndrome 6" "Senior-Loken syndrome caused by mutation in CEP290" "CEP290 Senior-Loken syndrome" @@ -148481,6 +148481,9 @@ "YRI" "blood serum carcinoembryonic antigen-related cell adhesion molecule 3 amount" "bis[2-hydroxypropane-1,2,3-tricarboxylato(3-)-kappa(3)O(1),O(2),O(3)]ferrate(3-)" + "inherited cardiac tumor" + "hereditary heart neoplasm" + "genetic heart tumor" "blood serum dual specificity protein phosphatase 15 amount" "Toxoplasmosis - congen." "mother-to-child transmission of toxoplasmosis" @@ -148508,9 +148511,6 @@ "progressive myoclonic epilepsy type 2" "myoclonic epilepsy of Lafora" "epilepsy, progressive myoclonic 2A (Lafora)" - "inherited cardiac tumor" - "hereditary heart neoplasm" - "genetic heart tumor" "Raised intracranial pressure" "raised intracranial pressure" "Intracranial Hypertension" @@ -148555,8 +148555,8 @@ "OPTA1" "Ahn-Lerman-Sagie syndrome" "blood serum cAMP-dependent protein kinase type II-beta regulatory subunit amount" - "Achondrogenesis, Langer-Saldino type" "bile duct squamous cell carcinoma" + "Achondrogenesis, Langer-Saldino type" "disintegrin and metalloproteinase with thrombospondin motifs 13 activity measurement" "DNA_sequencer" "Fitzsimmons-McLachlan-Gilbert syndrome" @@ -148883,11 +148883,11 @@ "bile acid anabolism" "bile acid biosynthesis" "bile acid synthesis" + "Facial dysmorphism - intellectual disability - short stature - hearing loss" "papillary eccrine adenoma" "tubular apocrine adenoma" "papillary apocrine fibroadenoma" "papillary eccrine carcinoma" - "Facial dysmorphism - intellectual disability - short stature - hearing loss" "neuropathy, hereditary, with or without age-related macular degeneration" "Charcot-Marie-Tooth disease, demyelinating, IIA 1H" "Charcot-Marie-Tooth neuropathy, IIA 1H" @@ -148918,9 +148918,9 @@ "immune dysfunction due to T-cell inactivation due to calcium entry defect" "bacterial haemorrhagic fever" "haemorrhagic fever, bacterial" - "blood serum zinc finger protein 410 amount" "cardioacrofacial dysplasia 1" "CAFD1" + "blood serum zinc finger protein 410 amount" "naked mole-rat" "naked mole rat" "peroxisome biogenesis disorder due to PEX19 defect" @@ -148965,12 +148965,12 @@ "blood serum Phosphatidylcholine (O-16:0_18:1) amount" "blood serum harmonin amount" "blood serum transcription elongation factor A protein 1 amount" + "noduli lymphoidei aggregati" "gall bladder leiomyoma" "leiomyoma of gallbladder" "gallbladder leiomyoma" "leiomyoma of the gallbladder" "leiomyoma of gall bladder" - "noduli lymphoidei aggregati" "peroxisome biogenesis disorder 1A (Zellweger)" "skin zone" "portion of skin" @@ -149020,20 +149020,20 @@ "adenocarcinoma" "adenocarcinomas" "adenocarcinoma, no subtype (morphologic abnormality)" - "Pharyngula:High-pec" "isobutyryl-CoA dehydrogenase deficiency" "isobutyric aciduria" - "blood serum pre-mRNA-processing factor 19 amount" + "Pharyngula:High-pec" "Dystonia-parkinsonism, Paisan-Ruiz type" "PLA2G6-related dystonia-parkinsonism" "PARK14" + "blood serum pre-mRNA-processing factor 19 amount" "blood serum Myb/SANT-like DNA-binding domain-containing protein 2 amount" + "Mo.6c+II" "LRP4 sclerosteosis" "sclerosteosis type 2" "SOST2" "sclerosteosis 2" "sclerosteosis caused by mutation in LRP4" - "Mo.6c+II" "ductus ejaculatorius" "chromogranin B cleavage product measurement" "quadrate bone" @@ -149094,9 +149094,6 @@ "partial trisomy of chromosome 3" "DEL cells" "DEL" - "Stiff joint" - "Joint stiffness" - "Stiff joints" "Fibromuscular hyperplasia of artery (disorder)" "Fibromuscular hyperplasia of arteries NOS (disorder)" "Fibromuscular Dysplasia" @@ -149106,6 +149103,9 @@ "Fibromuscular dysplasia (morphologic abnormality)" "Fibromuscular hyperplasia of artery" "fibromuscular dysplasia" + "Stiff joint" + "Joint stiffness" + "Stiff joints" "blood serum Phosphatidylcholine (16:1_18:2) amount" "15q11.2 BP1-BP2 microdeletion syndrome" "chromosome 15q11.2 deletion syndrome" @@ -149258,12 +149258,12 @@ "endometrium mucinous adenocarcinoma" "endometrial mucinous adenocarcinoma" "MEF cell" - "trioxygen" - "ozone" "electroencephalogram traits" "brain oscillations" "brain waves" "brainwaves" + "trioxygen" + "ozone" "Abnormal thyrotropin level" "Abnormal circulating thyrotropin concentration" "Abnormal TSH level" @@ -149287,12 +149287,12 @@ "Usher syndrome caused by mutation in CLRN1" "USH3A" "CLRN1 Usher syndrome" - "Alpha-methyl-acetoacetyl-CoA thiolase deficiency" "Western equine encephalitis virus caused infectious encephalitis" "Western equine encephalitis virus infectious encephalitis" "Western equine encephalomyelitis" "Encephalomyelitis, Western Equine" "western equine encephalitis" + "Alpha-methyl-acetoacetyl-CoA thiolase deficiency" "blood serum mitogen-activated protein kinase kinase kinase kinase 3 amount" "Bartsocas Papas syndrome" "autosomal recessive popliteal pterygium syndrome" @@ -149552,10 +149552,10 @@ "neurodegeneration with brain iron accumulation 5" "neurodegeneration with brain iron accumulation type 5" "beta-propeller protein-associated neurodegeneration" - "blood serum disintegrin and metalloproteinase domain-containing protein 7 amount" "Epidermolysis bullosa dystrophica" "DEB" "Dermolytic epidermolysis bullosa" + "blood serum disintegrin and metalloproteinase domain-containing protein 7 amount" "pharyngeal system development disease" "disease of pharyngeal system development" "disorder of pharyngeal system development" @@ -149798,8 +149798,8 @@ "growth hormone producing tumour of the pituitary" "growth hormone secreting neoplasm of pituitary gland" "growth hormone secreting neoplasm of pituitary" - "growth hormone producing tumour of pituitary gland" "growth hormone producing tumour of pituitary" + "growth hormone producing tumour of pituitary gland" "growth hormone producing pituitary gland tumour" "growth hormone secreting pituitary tumour" "somatotropinoma" @@ -149942,8 +149942,8 @@ "ovarian Müllerian adenosarcoma" "ovarian Mullerian adenosarcoma" "ovarian adenosarcoma" - "Segmentation:20-25 somites" "2-(morpholin-4-yl)-8-phenyl-4H-chromen-4-one" + "Segmentation:20-25 somites" "Coronaviridae infectious disease" "Coronaviridae Infections" "TAG 48:0" @@ -149955,7 +149955,6 @@ "XLSA" "MIH" "qualitative or quantitative defects of protein POMGNT1" - "Bull-Nixon syndrome" "6-pyruvoyl tetrahydropterin synthase deficiency" "6-pyruvoyl-tetrahydropterin synthase deficiency" "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency" @@ -149966,6 +149965,7 @@ "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency" "BH4-deficient hyperphenylalaninemia A" "HPABH4A" + "Bull-Nixon syndrome" "autosomal recessive centronuclear myopathy caused by mutation in SPEG" "centronuclear myopathy 5" "myopathy, centronuclear, 5" @@ -150013,8 +150013,8 @@ "Epidemic encephalitis (disorder)" "Arthropod-borne viral encephalitis, vector unknown (disorder)" "Viral encephalitis NOS" - "Blepharophimosis types 1 and 2" "blood serum glycoprotein hormone alpha-2 amount" + "Blepharophimosis types 1 and 2" "blood serum TERF1-interacting nuclear factor 2 amount" "obstruction of bile duct" "bile occlusion" @@ -150198,6 +150198,8 @@ "isolated protirelin deficiency" "isolated thyroliberin deficiency" "isolated TSH-releasing factor deficiency" + "immunodeficiency-centromeric instability-facial anomalies syndrome" + "immunodeficiency-centromeric instability-facial anomalies" "autosomal recessive spastic paraplegia type 57" "TFG hereditary spastic paraplegia" "spastic paraplegia due to partial TFG deficiency" @@ -150205,8 +150207,6 @@ "hereditary spastic paraplegia caused by mutation in TFG" "autosomal recessive spastic paraplegia 57" "SPG57" - "immunodeficiency-centromeric instability-facial anomalies syndrome" - "immunodeficiency-centromeric instability-facial anomalies" "PROM1 cone-rod dystrophy" "cone-rod dystrophy type 12" "CORD12" @@ -150584,8 +150584,8 @@ "Günther disease" "Congenital Erythropoietic Porphyria" "cutaneous porphyria" - "Osteopenia - intellectual disability - sparse hair" "blood serum protein-tyrosine phosphatase mitochondrial 1 amount" + "Osteopenia - intellectual disability - sparse hair" "prostate adenosquamous carcinoma" "prostate gland adenosquamous carcinoma" "adenosquamous carcinoma of the prostate" @@ -150837,13 +150837,13 @@ "CMT4" "AR-CMT1" "autosomal recessive demyelinating Charcot-Marie-Tooth" - "malignant cardiovascular neoplasm" "malignant neoplasm of cardiovascular system" "cardiovascular tumours" "cardiovascular system cancer" "cardiovascular tumors" "cancer of cardiovascular system" "malignant cardiovascular system neoplasm" + "malignant cardiovascular neoplasm" "adPEO" "progressive external ophthalmoplegia, autosomal dominant" "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1" @@ -150954,6 +150954,7 @@ "46,XX SEX REVERSAL 5" "SRXX5" "46,xx sex reversal 5" + "Snyder-Robinson syndrome" "Thermobacterium helveticum" "Lactobacillus suntoryeus" "Lactobacillus helveticum" @@ -150965,7 +150966,6 @@ "EoE" "chronic esophagitis, eosinophilic" "eosinophilic esophagitis" - "Snyder-Robinson syndrome" "S-[2,3-bis(hexadecanoyloxy)propyl]-L-cysteinyl-L-seryl-L-lysyl-L-lysyl-L-lysyl-L-lysine" "Breast lump" "GM09581 cell" @@ -151057,11 +151057,11 @@ "vaginal Mullerian adenosarcoma" "vaginal Müllerian adenosarcoma" "TAG 48:1" + "Boyes Arabidopsis Growth Stage 1.06" + "BBCH growth stage 16" "Coronavinae infectious disease" "Coronavirus Infections" "coronavirus disease" - "Boyes Arabidopsis Growth Stage 1.06" - "BBCH growth stage 16" "blood serum Phosphatidylcholine (O-16:1_20:4) amount" "Segmentation:26+ somites" "blood serum xyloside xylosyltransferase 1 amount" @@ -151219,9 +151219,9 @@ "salmonid viral hemorrhagic septicemia" "Hemorrhagic Septicemia, Viral" "Egtved Disease" + "blood serum gephyrin amount" "Intellectual deficiency - epilepsy - endocrine disorders" "BFLS" - "blood serum gephyrin amount" "blood serum TIMELESS-interacting protein amount" "megaconial type congenital muscular dystrophy" "congenital muscular dystrophy with mitochondrial structural abnormalities" @@ -151413,7 +151413,6 @@ "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" "peripheral neuropathy, Fiskerstrand type" "PHARC syndrome" - "Genetic DSD of gynecological interest" "disease, neurologic autoimmune" "neurologic autoimmune diseases" "neurologic autoimmune disease" @@ -151433,6 +151432,7 @@ "diseases, neurologic autoimmune" "autoimmune disease of nervous system" "autoimmune disease, neurologic" + "Genetic DSD of gynecological interest" "pvRSA/HF" "nervus ischiadicus" "nervus sciaticus" @@ -151584,6 +151584,9 @@ "orofaciodigital syndrome Thurston type" "orofaciodigital syndrome V" "orofaciodigital syndrome type V" + "MAD deficiency, severe neonatal type" + "glutaric aciduria type 2, severe neonatal type" + "MADD, severe neonatal type" "Caki-1" "epidermolysis bullosa, generalized atrophic benign" "epidermolysis bullosa, junctional 4, intermediate" @@ -151591,9 +151594,6 @@ "epidermolysis bullosa, junctional 4, non-herlitz IIA" "JEB4" "epidermolysis bullosa, generalised atrophic benign" - "MAD deficiency, severe neonatal type" - "glutaric aciduria type 2, severe neonatal type" - "MADD, severe neonatal type" "cerebroretinal microangiopathy with calcifications and cysts" "CRMCC" "cerebroretinal microangiopathy with calcfications and cysts" @@ -151648,9 +151648,9 @@ "Cardiomyopathic lentiginosis" "3alpha,12alpha-dihydroxy-5beta-cholan-24-oate" "deoxycholate" - "outer ear prominence" "short stature, hearing loss, retinitis pigmentosa, and distinctive facies" "retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome" + "outer ear prominence" "papillary squamous carcinoma" "papillary squamous cell carcinoma" "papillary epidermoid cell carcinoma" @@ -151994,8 +151994,8 @@ "soybean cyst nematode" "Heterodera glycine" "Heterodera glycines Ichinohe, 1952" - "Drosophila mohavensis" "blood serum kelch-like protein 13 amount" + "Drosophila mohavensis" "Krasnow-Qazi syndrome" "blood serum a disintegrin and metalloproteinase with thrombospondin motifs 3 amount" "pediatric choriocarcinoma of the ovary" @@ -152106,14 +152106,14 @@ "Abnormality of the GI tract" "Abnormality of the gastrointestinal tract" "blood serum MAP6 domain-containing protein 1 amount" - "primary spinal cord lymphoma" - "lymphoma of the spinal cord" - "lymphoma of spinal cord" - "spinal cord lymphoma" "Rickettsia tsutsugamushi" "Rickettsia orientalis" "Theileria tsutsugamushi" "Rickettsia akamushi" + "primary spinal cord lymphoma" + "lymphoma of the spinal cord" + "lymphoma of spinal cord" + "spinal cord lymphoma" "EEG with generalised epileptiform discharges" "Burkholderia mana" "blood serum adaptin ear-binding coat-associated protein 2 amount" @@ -152242,6 +152242,7 @@ "Motor developmental milestones not achieved" "Delay in motor development" "blood serum F-actin-capping protein subunit beta amount" + "TAG 48:2" "colon neuroendocrine tumour" "neuroendocrine neoplasm of the colon" "colon neuroendocrine tumor" @@ -152252,7 +152253,6 @@ "colon NET" "colon neuroendocrine tumor, well differentiated, low or intermediate grade" "colonic neuroendocrine neoplasm" - "TAG 48:2" "cowpox" "yaba" "Cowpox" @@ -152709,7 +152709,6 @@ "GNPAT deficiency" "glyceronephosphate O-acyltransferase deficiency" "blood serum cyclin-dependent kinase 4 inhibitor B amount" - "polymerase chain reaction" "epithelial system - sensu C elegans" "dermal system" "integument" @@ -152718,6 +152717,7 @@ "Hautsystem" "tegument" "dermoid system" + "polymerase chain reaction" "anemia normocytic" "normocytic Anemia" "normocytic Anaemia" @@ -153034,8 +153034,8 @@ "tumor of parotid gland" "Cancer of Parotid" "Parotid Neoplasms" - "parotid tumor" "Parotid Cancers" + "parotid tumor" "tumor of the parotid" "parotid gland neoplasm (disease)" "parotid gland tumour" @@ -153098,8 +153098,8 @@ "Delayed puberty" "Pubertal delay" "Delayed pubertal growth" - "Oligocone syndrome" "blood serum chloride intracellular channel protein 3 amount" + "Oligocone syndrome" "blood serum interleukin-12 subunit beta amount" "duodenum carcinoma" "carcinoma of the duodenum" @@ -153303,9 +153303,9 @@ "von Willebrands Diseases" "Tibial pseudoarthrosis" "blood serum NEDD8 protein amount" - "hydrocele testis" "Del(14)(q24.1q24.3)" "monosomy 14q24.1q24.3" + "hydrocele testis" "undifferentiated ovarian carcinoma" "ovary undifferentiated carcinoma" "undifferentiated carcinoma of ovary" @@ -153328,7 +153328,6 @@ "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" "mental retardation, autosomal dominant type 23" "Muscle fibre actin filament accumulation" - "(15Z)-12,18-dihydroxy-13,19-didehydrosenecionan-11,16-dione" "chromosome 16p13.3 duplication syndrome" "16p13.3 microduplication syndrome" "dup(16)(p13.3)" @@ -153337,6 +153336,7 @@ "telomeric duplication 16p" "distal duplication 16p" "chromosome 16p13.3 duplication syndrome, isolated cases" + "(15Z)-12,18-dihydroxy-13,19-didehydrosenecionan-11,16-dione" "hairy throat syndrome" "Tsukahara-Kajii syndrome" "hereditary sensory and autonomic neuropathy type IB" @@ -153484,8 +153484,6 @@ "familial intestinal polyposis" "genetic intestinal polyposis" "blood serum integrin beta-2 amount" - "N-acetylglycine" - "(acetylamino)acetic acid" "malignant ovarian surface epithelial-stromal neoplasm" "ovarian epithelial cancer" "ovarian malignant epithelial tumour" @@ -153497,6 +153495,8 @@ "ovarian stromal cancer" "malignant ovarian surface epithelial-stromal tumour" "malignant ovarian surface epithelial-stromal tumor" + "N-acetylglycine" + "(acetylamino)acetic acid" "alpha-D-Glucose" "ALPHA-D-GLUCOSE" "alpha-D-glucose" @@ -154231,10 +154231,10 @@ "CDG-IIg" "Carbohydrate deficient glycoprotein syndrome type IIg" "Knee pain" + "blood serum large ribosomal subunit protein P2 amount" "Erythrocyte Corpuscular Hemoglobin Concentration Distribution Width" "Corpuscular HGB Conc Distribution Width" "CHDW" - "blood serum large ribosomal subunit protein P2 amount" "Rhamphochromis 'chilingali'" "O-linoleyl-L-carnitine" "17p11.2 microduplication syndrome" @@ -154358,8 +154358,8 @@ "Different colored eyes" "glycyl-L-tryptophan" "GM17222 cell" - "blood serum interleukin-6 receptor subunit beta amount" "earlobe attachment" + "blood serum interleukin-6 receptor subunit beta amount" "GM17746 cell" "liver lipoma" "lipoma of the liver" @@ -154408,11 +154408,11 @@ "Coloboma - heart defects - atresia choanae - retardation of growth and development - genitourinary problems - ear abnormalities" "elongating embryo" "blood serum mitogen-activated protein kinase 6 amount" + "acquired cutis laxa" + "cutis laxa acquisita" "intellectual disability-short stature-hand contractures-genital anomalies syndrome" "Prader-Willi habitus-osteopenia-camptodactyly syndrome" "urban-Rogers-Meyer syndrome" - "acquired cutis laxa" - "cutis laxa acquisita" "sick sinus syndrome 3, susceptibility to" "MYH6 familial sick sinus syndrome" "sick sinus syndrome 3" @@ -154707,20 +154707,20 @@ "CDG-Is" "CDG1S" "Congenital disorder of glycosylation type 1s" + "sugar intake measurement" "blood 1-oleoyl-2-linoleoyl-sn-glycerol amount" "Coprinus macrorhizus" "Coprinus cinereus" - "sugar intake measurement" "Central congenital hypoventilation syndrome" "Congenital central alveolar hypoventilation syndrome" "CCHS" "Ondine curse" + "apocrine carcinoma of breast" "apocrine adenocarcinoma of breast" "apocrine carcinoma of the breast" "apocrine breast carcinoma" "breast apocrine carcinoma" "breast apocrine adenocarcinoma" - "apocrine carcinoma of breast" "Brunzell syndrome" "BSCL" "Lipoatrophic diabetes" @@ -154850,13 +154850,13 @@ "carcinoma, renal cell, malignant" "renal cell adenocarcinoma" "HCC-2998" + "syringoma of mammalian vulva" + "mammalian vulva syringoma" + "vulvar syringoma" "ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" "immunodeficiency 38" "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15" "MSMD due to complete ISG15 deficiency" - "syringoma of mammalian vulva" - "mammalian vulva syringoma" - "vulvar syringoma" "nevus sebaceous or wooly hair nevus, somatic" "nonepidermolytic keratinocytic nevus" "Epidermal Nevus" @@ -155336,8 +155336,8 @@ "anaplasmoses" "thymic malignant germ cell tumor" "mediastinal malignant germ cell tumor" - "malignant mediastinal germ cell tumour" "malignant mediastinal germ cell tumor" + "malignant mediastinal germ cell tumour" "thymic malignant germ cell tumour" "mediastinal germ cell tumor, malignant" "avian tuberculosis" @@ -156009,10 +156009,10 @@ "testicular gonadoblastoma" "gonadoblastoma of testis" "testicular gonadoblastoma (disease)" + "HCC-1195" "Marasmius perniciosus" "Crinipellis perniciosa" "blood serum anthrax toxin receptor 1 amount" - "HCC-1195" "Type II Cockayne Syndrome" "Type C Cockayne Syndrome" "Cockayne Syndrome, Group C" @@ -156059,10 +156059,10 @@ "Proximally placed thumbs" "Attachment of thumb close to wrist" "blood serum caspase recruitment domain-containing protein 9 amount" + "blood serum immediate early response gene 2 protein amount" "acrylamide" "Acrylamide" "prop-2-enamide" - "blood serum immediate early response gene 2 protein amount" "Deafness NOS (finding)" "Bilateral deafness (finding)" "Complete deafness (finding)" @@ -156078,12 +156078,12 @@ "keratosis palmoplantaris-esophageal carcinoma syndrome" "Bennion-Patterson syndrome" "Howell-Evans syndrome" - "Canton S" "Cryptococcus neoformans caused infectious meningitis" "Cryptococcal meningitis" "Cryptococcal meningitis (disorder)" "Cryptococcus neoformans infectious meningitis" "Meningitis, Cryptococcal" + "Canton S" "blood serum tRNA 2'-phosphotransferase 1 amount" "SCA10" "spinocerebellar ataxia type 10" @@ -156209,6 +156209,12 @@ "drug resistant tuberculosis" "phosphatidylcholine O-36:1" "blood serum adhesion G-protein coupled receptor G2 amount" + "Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type" + "Unna-Thost Syndrome" + "NEPPK" + "Thost-Unna Syndrome" + "tylosis" + "diffuse nonepidermolytic palmomplantar keratoderma" "blood serum DNA polymerase eta amount" "paraneoplastic syndrome" "Seemanova-Lesny syndrome" @@ -156218,12 +156224,7 @@ "monosomy 14q22-q23" "Del(14)(q22q23)" "Frias syndrome" - "Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type" - "Unna-Thost Syndrome" - "NEPPK" - "Thost-Unna Syndrome" - "tylosis" - "diffuse nonepidermolytic palmomplantar keratoderma" + "parathyroid" "130T" "RD 2" "RD-2" @@ -156234,7 +156235,6 @@ "130-T" "TE 32.T" "TE-32" - "parathyroid" "blood serum fructose-2,6-bisphosphatase TIGAR amount" "glycogen storage disease type III" "limit dextrinosis" @@ -156297,11 +156297,6 @@ "astrocytic glia" "GM17136 cell" "Xenium" - "Beriberi" - "Beri Beri" - "thiamine deficiency" - "beriberi" - "vitamin B1 deficiency" "benign parathyroid gland neoplasm" "parathyroid tumour benign" "benign tumour of the parathyroid gland" @@ -156322,6 +156317,11 @@ "benign neoplasm of the parathyroid gland" "benign neoplasm of parathyroid" "benign neoplasm of the parathyroid" + "Beriberi" + "Beri Beri" + "thiamine deficiency" + "beriberi" + "vitamin B1 deficiency" "prolactin secreting neoplasm of the pituitary" "prolactin secreting pituitary tumor" "prolactin secreting pituitary gland tumour" @@ -156364,14 +156364,14 @@ "self-transcribing active regulatory region sequencing" "Van Maldergem syndrome" "blood serum bone morphogenetic protein 4 amount" + "Salmeterol" + "CHRF-288-11" "MYXEDEMA" "myxoedema" "Myxedema (disorder)" "Myxedema" "myxedema" "Myxoedema" - "Salmeterol" - "CHRF-288-11" "combined oxidative phosphorylation deficiency type 14" "COXPD14" "combined oxidative phosphorylation deficiency caused by mutation in FARS2" @@ -156546,10 +156546,10 @@ "lymphoma of mucosa-associated lymphoid tissue" "MALT-lymphoma" "mucosa-associated lymphatic tissue lymphoma" + "blood serum beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase amount" "State of indifference" "Lack of feeling, emotion, interest, motivation, initiation" "Lack of feeling, emotion, interest" - "blood serum beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase amount" "blood serum F-BAR and double SH3 domains protein 1 amount" "EBV-related tumor" "EBV-related tumour" @@ -156699,8 +156699,8 @@ "sterol metabolism" "tumor of mesonephric duct" "neoplasm of mesonephric duct" - "mesonephric tumor" "mesonephric duct neoplasm" + "mesonephric tumor" "Wolffian duct tumour" "mesonephric duct tumour" "tumour of mesonephric duct" @@ -157328,8 +157328,6 @@ "humeral intercalary meromelia, bilateral" "malignant glioma of brain" "brain malignant glioma" - "XX gonodal dysgenesis-deafness syndrome" - "Perrault syndrome" "benign neoplasm of ovary" "benign tumor of the ovary" "ovary benign neoplasm" @@ -157341,6 +157339,8 @@ "benign ovarian neoplasm" "benign ovarian tumour" "benign ovarian tumor" + "XX gonodal dysgenesis-deafness syndrome" + "Perrault syndrome" "pseudopseudohypoparathyroidism" "aho-PPHP syndrome" "Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]" @@ -157558,8 +157558,8 @@ "cardiac tuberculosis" "cardiovascular tuberculosis" "benign choroid plexus tumour" - "benign tumour of the choroid plexus" "benign choroid plexus neoplasm" + "benign tumour of the choroid plexus" "benign choroid plexus tumours" "benign tumor of the choroid plexus" "benign choroid plexus tumors" @@ -157595,13 +157595,13 @@ "arthrogryposis, distal, type 2B3" "DA2B3" "arthrogryposis, distal, type 2B3 (Sheldon-Hall)" + "Holmes-Collins syndrome" "blood serum myeloid-derived growth factor amount" "Leigh disease with myopathy" "cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency" "cardiomyopathy with myopathy due to COX deficiency" - "Holmes-Collins syndrome" - "forefin skeleton" "MEPCA" + "forefin skeleton" "Arterial Diseases, External Carotid" "Arterial Diseases, Common Carotid" "carotid artery disorder" @@ -157897,10 +157897,10 @@ "adult testicular granulosa cell tumor" "adult type testicular granulosa cell tumor" "adult testicular granulosa cell tumour" + "blood serum probable carboxypeptidase X1 amount" "rhombomere" "hindbrain neuromere" "hindbrain neuromeres" - "blood serum probable carboxypeptidase X1 amount" "blood serum peroxiredoxin-4 amount" "Oculocutaneous tyrosinemia" "Richner-Hanhart syndrome" @@ -157966,10 +157966,10 @@ "flat cornea" "eosinophilia-myalgia syndrome" "eosinophilia myalgia syndrome" - "LECD" - "Band-shaped and whorled microcystic dystrophy of the corneal epithelium" "Muscular weakness" "Muscle weakness" + "LECD" + "Band-shaped and whorled microcystic dystrophy of the corneal epithelium" "Alpers progressive sclerosing poliodystrophy" "Alper's syndrome" "progressive sclerosing poliodystrophy (disorder)" @@ -158880,12 +158880,12 @@ "nephrotic syndrome-steroid-resistant" "steroid-resistant nephrotic syndrome" "blood serum protein-lysine N-methyltransferase EEF2KMT amount" - "Karandikar-Maria-Kamble syndrome" "blood serum programmed cell death 6-interacting protein amount" "infantile genetic agranulocytosis" "genetic infantile agranulocytosis" "congenital neutropenia" "blood fucose amount" + "Karandikar-Maria-Kamble syndrome" "blood serum allograft inflammatory factor 1-like amount" "ectodermal dysplasia with natal teeth, Turnpenny type" "Jansen Type Metaphyseal Chondrodysplasia" @@ -159098,12 +159098,6 @@ "brain-resident macrophage" "microgliocyte" "hortega cells" - "bladder calculus" - "bladder stone" - "bladder stones" - "Urinary Bladder Calculi" - "vesical calculi" - "cystoliths" "Schimke immuno-osseous dysplasia" "spondyloepiphyseal dysplasia - nephrotic syndrome" "immunoosseous dysplasia Schimke type" @@ -159111,6 +159105,12 @@ "Schimke immunoosseous dysplasia" "spondyloepiphyseal dysplasia-nephrotic syndrome" "blood serum histone-lysine N-methyltransferase EZH2 amount" + "bladder calculus" + "bladder stone" + "bladder stones" + "Urinary Bladder Calculi" + "vesical calculi" + "cystoliths" "blood serum spermatogenesis-associated protein 22 amount" "VLDL hyperlipoproteinemia" "endogenous hyperlipidaemia" @@ -159357,8 +159357,8 @@ "mycobacterial infection" "blood serum tenascin-X amount" "blood serum SLIT and NTRK-like protein 4 amount" - "primary lymphoma of bone" "bone tissue lymphoma" + "primary lymphoma of bone" "lymphoma of the bone" "lymphoma of bone tissue" "primary lymphoma of the bone" @@ -159516,13 +159516,13 @@ "Del(X)(p21)" "pM" "blood serum ATP synthase-coupling factor 6, mitochondrial amount" - "GM17181 cell" "inflammation of urethra" "urethritis (disease)" "urethra inflammation" "urethritis" "non-gonococcal urethritis" "Urethritides" + "GM17181 cell" "benign neoplasm of the spinal cord" "benign tumour of spinal cord" "spinal cord benign neoplasm" @@ -159667,18 +159667,18 @@ "hard syndrome" "WWS" "Walker-Warburg syndrome" - "Salmonella typhi CT18" - "Salmonella enterica subsp. enterica serovar Typhi strain CT18" - "Salmonella enterica subsp. enterica serovar Typhi CT18" "Primary familial and congenital polycythemia" "Congenital polycythemia due to erythropoietin receptor mutation" "PFCP" "Congenital erythrocytosis due to erythropoietin receptor mutation" "Familial erythrocytosis" "Primary congenital erythrocytosis" + "Salmonella typhi CT18" + "Salmonella enterica subsp. enterica serovar Typhi strain CT18" + "Salmonella enterica subsp. enterica serovar Typhi CT18" + "blood serum glycine N-acyltransferase-like protein 2 amount" "Norman-Landing disease" "Infantile GM1 gangliosidosis" - "blood serum glycine N-acyltransferase-like protein 2 amount" "hypomagnesemia, seizures, and intellectual disability" "hypomagnesemia, seizures, and mental retardation" "disaccharide intolerance with minimal starch tolerance" @@ -159798,13 +159798,13 @@ "Lactococcus lactis cremoris" "Lactococcus cremoris" "Streptococcus lactis B" + "MRGH" "Bos syndrome" "Bohring-Opitz syndrome" "Oberklaid-Danks syndrome" "Bohring syndrome" "C-like syndrome" "Opitz trigonocephaly-like syndrome" - "MRGH" "Vermian atrophy" "Atrophy of the cerebellar vermis" "Atrophy of cerebellar vermis" @@ -159979,8 +159979,8 @@ "all-trans-retinoic acid" "(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid" "atom" - "Yorifuji-Okuno syndrome" "blood serum interferon-inducible double-stranded RNA-dependent protein kinase activator A amount" + "Yorifuji-Okuno syndrome" "nuclear RNA extract" "Okihiro syndrome due to monosomy 20q13" "Okihiro syndrome due to del(20)(q13)" @@ -160299,10 +160299,10 @@ "Synpolydactyly" "Increased muscle tone" "Hypertonicity" - "Aphonia" "Partial monosomy of the short arm of chromosome 18" "Partial monosomy of chromosome 18p" "Partial deletion of chromosome 18p" + "Aphonia" "AARS early infantile epileptic encephalopathy" "DEE29" "epileptic encephalopathy, early infantile, 29" @@ -160320,9 +160320,14 @@ "ADCA3" "MBD2 protein methyl-CpG binding domain" "Enrichment by methyl-CpG binding domain" + "X-linked MSMD" "Brown-Squard syndrome" "Brown-Sequard syndrome" - "X-linked MSMD" + "Vitreous Fluid, Blood In" + "Blood In Vitreous Fluid," + "Blood In Vitreous" + "vitreous body hemorrhage" + "Vitreous Hemorrhage Fluid" "MUCI-related ADTKD" "MUC1-related autosomal dominant medullary cystic kidney disease" "medullary cystic kidney disease 1" @@ -160332,11 +160337,6 @@ "ADTKD-MUC1" "medullary cystic kidney disease, autosomal dominant" "autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1" - "Vitreous Fluid, Blood In" - "Blood In Vitreous Fluid," - "Blood In Vitreous" - "vitreous body hemorrhage" - "Vitreous Hemorrhage Fluid" "cranio-lenticulo-sutural dysplasia, CLSD" "Boyadjiev-Jabs syndrome" "craniolenticulosutural dysplasia" @@ -160514,10 +160514,10 @@ "adult spinal cord glioblastoma" "glioblastoma multiforme of spinal cord" "blood serum coagulation factor XI amount" - "blood serum ATPase family gene 2 protein homolog A amount" "clear cell adenocarcinoma of ovary" "ovarian clear cell adenocarcinoma" "ovary clear cell adenocarcinoma" + "blood serum ATPase family gene 2 protein homolog A amount" "Fredrickson type V lipaemia" "familial apolipoprotein a5 deficiency" "familial apolipoprotein A-V deficiency" @@ -160563,12 +160563,12 @@ "caecum in situ carcinoma" "caecum carcinoma in situ" "cecum carcinoma in situ" - "G361-mel" - "G361mel" - "blood serum activity-regulated cytoskeleton-associated protein amount" "SPG65" "SPG45" "Autosomal recessive spastic paraplegia type 65" + "G361-mel" + "G361mel" + "blood serum activity-regulated cytoskeleton-associated protein amount" "Syphilis, Latent" "latent syphilis" "blood serum phospholipase A1 member A amount" @@ -161036,11 +161036,6 @@ "Intraepidermal epithelioma of Jadassohn" "blood serum POU domain class 2-associating factor 1 amount" "Osteochondrodysplatic dwarfism - deafness - retinitis pigmentosa" - "SUM 225" - "SUM225" - "SUM 225CWN" - "SUM-225" - "SUM-225CWN" "genital Warts" "venereal wart" "anogenital venereal wart" @@ -161054,6 +161049,11 @@ "anogenital Warts" "anogenital Human papilloma Virus infection" "Genital warts" + "SUM 225" + "SUM225" + "SUM 225CWN" + "SUM-225" + "SUM-225CWN" "benign tumour of the nasal cavity" "nasal cavity benign neoplasm" "benign tumor of nasal cavity" @@ -161065,13 +161065,13 @@ "benign tumour of nasal cavity" "cTEC" "Sauroleishmania tarentolae" + "3-methylglutaconyl-CoA hydratase deficiency" + "3MG-CoA hydratase deficiency" + "MGA type 1" "CD4-negative, CD8-negative type I NKT cell" "CD4-negative, CD8-negative type I NK T-lymphocyte" "CD4-negative, CD8-negative type I NK T-cell" "CD4-negative, CD8-negative type I NK T lymphocyte" - "3-methylglutaconyl-CoA hydratase deficiency" - "3MG-CoA hydratase deficiency" - "MGA type 1" "parietal foramina with cleidocranial dysostosis" "parietal foramina with cleidocranial dysplasia" "nutritional deficiency disease" @@ -161079,12 +161079,12 @@ "malnourished" "blood serum B-cell linker protein amount" "TAG 54:2" + "SPG48" "liver fibrosarcoma (disease)" "liver fibrosarcoma" "fibrosarcoma of liver" "hepatic fibrosarcoma" "fibrosarcoma of the liver" - "SPG48" "blood serum DNA (cytosine-5)-methyltransferase 3-like amount" "blood serum prostaglandin-H2 D-isomerase amount" "bile duct neoplasm" @@ -161341,8 +161341,8 @@ "mesoblast" "mesoderm cell" "hexadecanoate" - "extracutaneous mastocytoma" "blood serum CCAAT/enhancer-binding protein epsilon amount" + "extracutaneous mastocytoma" "HIV Wasting Syndrome" "HIV wasting syndrome" "Human immunodeficiency virus infection wasting syndrome" @@ -161886,6 +161886,9 @@ "Increased width of the forehead" "Hemorrhage of the eye" "Bleeding from the eye" + "familial partial lipodystrophy associated with LIPE mutations" + "FPLD6" + "LIPE-related FPLD" "central nervous system primitive neuroectodermal neoplasm" "CNS primitive neuroectodermal tumor" "CNS primitive neuroectodermal neoplasm" @@ -161905,9 +161908,6 @@ "central nervous system primitive neuroectodermal tumour (WHO grade IV)" "kidney tubule" "tubulus renalis" - "familial partial lipodystrophy associated with LIPE mutations" - "FPLD6" - "LIPE-related FPLD" "blood serum transcription factor JunD amount" "DNER" "Toriello-Higgins-Miller syndrome" @@ -162430,7 +162430,6 @@ "leucocyte" "Nivelon-Nivelon-Mabille syndrome" "Chondrodysplasia - pseudohermaphroditism" - "Kozlowski-Krajewska syndrome" "borderline ovarian serous neoplasm" "borderline serous tumor of the ovary" "serous tumor of the ovary with low malignant potential" @@ -162460,6 +162459,7 @@ "serous ovarian tumour of low malignant potential" "borderline serous tumour of the ovary" "proliferating serous tumour of the ovary" + "Kozlowski-Krajewska syndrome" "chitooctaose" "keratosis palmoplantaris-periodontopathia-onychogryposis syndrome" "Haim-Munk syndrome" @@ -162596,8 +162596,8 @@ "zone of skin cancer" "malignant skin tumor" "malignant skin tumour" - "Mathieu-De Broca-Bony syndrome" "Milk Hypersensitivity" + "Mathieu-De Broca-Bony syndrome" "Kearns Sayre Syndrome" "Kearns-Sayre syndrome" "MSR" @@ -162723,12 +162723,12 @@ "AIDS-associated nephropathy" "AIDS-Related nephropathy" "HIV-associated nephropathy" + "response to stavudine trait" "OCA6" "partial duplication of chromosome Xq" "partial trisomy of the long arm of chromosome X" "partial trisomy of chromosome Xq" "partial duplication of the long arm of chromosome type X" - "response to stavudine trait" "blood serum small vasohibin-binding protein amount" "anal Buschke-Lowenstein tumour" "anal giant (malignant) condyloma" @@ -163106,6 +163106,8 @@ "6-deoxycathasterone" "(22S)-5alpha-campestane-3beta,22-diol" "Pierre Robin sequence associated with a chromosomal anomaly" + "congenital heart disease-associated PAH" + "PAH associated with congenital heart disease" "hereditary osteosclerosis" "acetate" "STHAG2" @@ -163113,8 +163115,6 @@ "Barnes syndrome" "thoracolaryngopelvic dysplasia" "thoracopelvic dysostosis" - "congenital heart disease-associated PAH" - "PAH associated with congenital heart disease" "telomeric duplication 17q" "distal duplication 17q" "trisomy 17qter" @@ -163563,12 +163563,12 @@ "von Kupffer cell" "littoral cell of hepatic sinusoid" "Abnormality of the ileum" - "adrenal medulla carcinoma" - "carcinoma of adrenal medulla" - "blood serum junction plakoglobin amount" "alopecia cicatrisata" "scarring hair loss" "scarring alopecia" + "adrenal medulla carcinoma" + "carcinoma of adrenal medulla" + "blood serum junction plakoglobin amount" "blood serum glutathione hydrolase 5 proenzyme amount" "retinal edema of macula lutea" "macular oedema" @@ -163860,8 +163860,8 @@ "breast cancer stage 0" "in situ breast cancer" "breast cancer in situ" - "non-infiltrating breast carcinoma" "breast carcinoma in situ" + "non-infiltrating breast carcinoma" "U2-OS" "blood serum kinesin light chain 1 amount" "DYT21" @@ -163924,13 +163924,13 @@ "cholesterol catabolism disease" "disorder of cholesterol catabolic process" "disorder of cholesterol catabolism" - "HLD23" "Pediococcus pentosaceus Mees 1934" "Pediococcus parvulus" "Pediococcus hennebergii" "Pediococcus hennebergii" "Tetracoccus No. 2" "Tetracoccus No. 2" + "HLD23" "blood serum Myc box-dependent-interacting protein 1 amount" "blood serum geminin amount" "G6P deficiency type a" @@ -163958,10 +163958,10 @@ "ALG2-congenital disorder of glycosylation" "carbohydrate deficient glycoprotein syndrome type Ii" "congenital disorder of glycosylation type 1i" + "trapezoidocephaly-synostosis syndrome" "intellectual disability-sparse hair-brachydactyly syndrome" "Nicolaides-Baraitser syndrome" "SMARCA2-related BAFopathy" - "trapezoidocephaly-synostosis syndrome" "drug induced hepatotoxicity" "Toxic Hepatitis" "drug-induced liver injury" @@ -164025,12 +164025,12 @@ "Male sterility due to chromosome Y deletion" "myocyte" "muscle fiber" - "head tissue" - "epicranial plate" "Diabetic Ketoacidosis" "DIABETES MELLITUS, KETOSIS-PRONE" "ketosis-prone diabetes mellitus" "diabetic ketoacidosis" + "head tissue" + "epicranial plate" "blood serum low-density lipoprotein receptor-related protein 2 amount" "adult Fanconi's syndrome" "adult Fanconi syndrome" @@ -164881,8 +164881,8 @@ "Schindler disease type 1" "Schindler disease, type III" "NAGA deficiency type 1" - "MRTTTC549" "Proximal tibial hypopolasia" + "MRTTTC549" "Primrose syndrome" "intellectual disability-cataracts-calcified pinnae-myopathy syndrome" "SOD" @@ -164908,9 +164908,9 @@ "ovary epithelial neoplasm" "radial nerve peripheral neuropathy" "peripheral neuropathy of radial nerve" + "SPG34" "Abnormal distribution of hair" "Abnormal hair pattern" - "SPG34" "post operative acute renal failure" "post operative acute kidney failure" "post-operative acute renal failure" @@ -165587,9 +165587,9 @@ "plexopathy" "nerve plexus disease or disorder" "blood serum ADP-ribosylation factor-like protein 1 amount" + "colorectal serrated adenocarcinoma" "mitral valve prolapse, myxomatous 2" "MMVP2" - "colorectal serrated adenocarcinoma" "Plasmodium falciparum (isolate 3D7)" "PLASMODIUM FALCIPARUM (ISOLATE 3D7)." "Inability to make and keep healthy fat tissue" @@ -165827,9 +165827,9 @@ "lung papillary adenocarcinoma" "papillary adenocarcinoma of the lung" "papillary lung adenocarcinoma" - "blood serum NEDD8-activating enzyme E1 catalytic subunit amount" "angioedema, hereditary, 1 and 2" "angioedema, hereditary, type 1/2" + "blood serum NEDD8-activating enzyme E1 catalytic subunit amount" "Richter's syndrome" "Richter's transformation" "Richter transformation" @@ -165923,8 +165923,8 @@ "virus infection" "viral disorder" "viral disease" - "blood serum disintegrin and metalloproteinase domain-containing protein 29 amount" "blood serum ornithine decarboxylase antizyme amount" + "blood serum disintegrin and metalloproteinase domain-containing protein 29 amount" "aortic smooth muscle cell" "aortic smooth muscle" "MPN" @@ -166365,10 +166365,10 @@ "Stoll-Lévy-Francfort syndrome" "blood serum procollagen galactosyltransferase 2 amount" "Pseudofolliculitis barbae" - "Autosomal recessive early-onset IBD" "rhinoscleroma" "Rhinoscleroma" "Rhinoscleroma (disorder)" + "Autosomal recessive early-onset IBD" "bilateral frontoparietal polymicrogyria" "Abnormality of vitamin metabolism" "age frontotemporal dementia symptoms begin" @@ -166441,10 +166441,10 @@ "Spirometric restriction" "Restrictive respiratory disease" "Restrictive deficit on pulmonary function tests" + "TAG 54:8" "blood serum ADP-ribosylation factor-like protein 6 amount" "level of phosphatidylethanolamine O-16:1_20:4 in blood serum" "blood serum phosphatidylethanolamine O-16:1_20:4 amount" - "TAG 54:8" "Reinhardt-Pfeiffer mesomelic dysplasia" "Reinhardt-Pfeiffer syndrome" "Cercopithecus sabeus" @@ -166592,12 +166592,12 @@ "Balaena glacialis" "northern right whale" "North Atlantic right whale" - "blood serum epididymal-specific lipocalin-10 amount" "FIC1 deficiency" "cholestasis, progressive familial intrahepatic, type 1" "PFIC1" "cholestasis, progressive familial intrahepatic 1" "Byler disease" + "blood serum epididymal-specific lipocalin-10 amount" "Hemin" "hemin" "chlorido(protoporphyrinato)iron(III)" @@ -167033,8 +167033,8 @@ "ovarian mucinous neoplasm, malignant" "malignant ovarian mucinous tumour" "malignant ovarian mucinous tumor" - "blood serum tumor necrosis factor alpha-induced protein 3 amount" "rac-N-[(2S,3S)-1-benzyl-2-methylpyrrolidin-3-yl]-5-chloro-2-methoxy-4-(methylamino)benzamide" + "blood serum tumor necrosis factor alpha-induced protein 3 amount" "endomyometritis" "blood serum appetite-regulating hormone amount" "3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency" @@ -167275,8 +167275,8 @@ "Carbohydrate deficient glycoprotein syndrome type IIb" "valvula cerebellum" "blood serum oligodendrocyte-myelin glycoprotein amount" - "Jones syndrome" "blood serum insulin-like growth factor-binding protein 3 amount" + "Jones syndrome" "jejunal neuroendocrine neoplasm" "C9ORF72-related Huntington disease-like syndrome" "C9ORF72-related Huntington disease phenocopy" @@ -167622,11 +167622,11 @@ "Broken Bones" "fracture" "Fracture, Bone" - "3-[(4-carboxy-3-methylbutanoyl)oxy]-4-(trimethylazaniumyl)butanoate" "D-721Med" "D-721 Med" "D-721" "D721" + "3-[(4-carboxy-3-methylbutanoyl)oxy]-4-(trimethylazaniumyl)butanoate" "Malouf syndrome" "Cardiogenital syndrome" "Najjar syndrome" @@ -168510,8 +168510,8 @@ "placenta disease or disorder" "placenta diseases" "disease or disorder of placenta" - "disease of placenta" "disorder of placenta" + "disease of placenta" "placenta disorder" "placenta disease" "Coffin-Siris syndrome caused by mutation in SMARCA4" @@ -169093,8 +169093,8 @@ "age Huntington disease symptoms begin" "retention polyp of the colon" "colon juvenile polyp" - "colonic juvenile polyp" "juvenile polyp of the colon" + "colonic juvenile polyp" "juvenile polyp of colon" "colonic retention polyp" "retention polyp of colon" @@ -169492,12 +169492,12 @@ "Magnesium deficiency" "Magnesium Deficiency" "blood serum ski-like protein amount" + "chorea, benign familial" "iridogoniodysgenesis caused by mutation in PITX2" "anterior segment dysgenesis 4" "PITX2 iridogoniodysgenesis" "IRID2" "iridogoniodysgenesis, type 2" - "chorea, benign familial" "blood serum selenocysteine lyase amount" "localisation-related epilepsy" "focal epilepsy" @@ -169517,12 +169517,13 @@ "idiopathic and/or familial pulmonary arterial hypertension" "pulmonary hypertension, primary, type 1" "IFPAH" - "Monosomy 15q11.2" - "Del(15)(q11.2)" "blood serum tryptophan--tRNA ligase, mitochondrial amount" "occlusion and stenosis of carotid artery" "carotid artery segment occlusion precerebral artery" "occlusion precerebral artery of carotid artery segment" + "Monosomy 15q11.2" + "Del(15)(q11.2)" + "U3118" "dental disorder" "calcareous tooth disease" "calcareous tooth disease or disorder" @@ -169532,7 +169533,6 @@ "disease or disorder of calcareous tooth" "dental disease" "disorder of calcareous tooth" - "U3118" "arthrocutaneouveal granulomatosis" "Blau syndrome" "paediatric granulomatous arthritis" @@ -169709,9 +169709,9 @@ "FCAS2" "non-DS-AMKL" "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" - "Jaffe-Campanacci syndrome" "thrombophilia 10 due to heparin cofactor II deficiency" "heparin cofactor 2 deficiency" + "Jaffe-Campanacci syndrome" "Primary ILD specific to childhood due to pulmonary surfactant protein anomalies" "tricuspid valve prolapse (disease)" "Tricuspid valve prolapse (disorder)" @@ -170189,10 +170189,10 @@ "tumor of cecum" "glycoprotein deglycosylation" "dissection of carotid artery" - "blood serum histone-lysine N-methyltransferase ASH1L amount" "Dyskeratosis congenita with bilateral exudative retinopathy" "Revesz-DeBuse syndrome" "Retinopathy-anemia-central nervous system anomalies syndrome" + "blood serum histone-lysine N-methyltransferase ASH1L amount" "Short stature - facial and skeletal anomalies - intellectual disability - macrodontia" "Spinal Cord Trauma" "SCI" @@ -170283,8 +170283,8 @@ "colon MALToma" "MALToma of colon" "colon mucosa-associated lymphoid tissue lymphoma" - "MALToma of the colon" "colonic MALT lymphoma" + "MALToma of the colon" "sulphation disorder" "inborn error of sulphation" "immature B-lymphocyte" @@ -170405,17 +170405,17 @@ "benign neoplasm of the synovium" "benign tumor of synovium" "benign tumour of the synovium" - "immunodeficiency 106, susceptibility to viral infections" - "IFNAR1 deficiency" - "IMD106" - "three spined stickleback" - "three-spined stickleback" - "Gasterosteus aculeatus Linnaeus, 1758" "AS syndrome" "antisynthetase syndrome" "Anti-Jo1 syndrome" "Anti-Synthetase Syndrome" "anti-Jo1 syndrome" + "three spined stickleback" + "three-spined stickleback" + "Gasterosteus aculeatus Linnaeus, 1758" + "immunodeficiency 106, susceptibility to viral infections" + "IFNAR1 deficiency" + "IMD106" "partial duplication/triplication of chromosome 18" "partial trisomy/tetrasomy of chromosome type 18" "TAG 56:2" @@ -170449,16 +170449,16 @@ "stage 0 bronchus carcinoma" "blood serum beta-enolase amount" "blood serum voltage-gated potassium channel subunit KCNA10 amount" - "Hemorrhagic nephrosonephritis" - "Hemorrhagic fever, Russian" - "Hemorrhagic Fever with Renal Syndrome" - "Puumala virus nephropathy (disorder)" - "HFRS" "CLPED1" "Cleft lip/palate-syndactyly-pili torti" "Zlotogora-Zilberman-Tenenbaum syndrome" "Syndactyly-ectodermal dysplasia-cleft/lip palate" "Cleft lip/palate-ectodermal dysplasia syndrome" + "Hemorrhagic nephrosonephritis" + "Hemorrhagic fever, Russian" + "Hemorrhagic Fever with Renal Syndrome" + "Puumala virus nephropathy (disorder)" + "HFRS" "blood serum large ribosomal subunit protein uL14m amount" "oculoectodermal syndrome" "oculoectodermal syndrome, somatic" @@ -170764,8 +170764,8 @@ "spinal muscular atrophy, distal, autosomal recessive, type 1" "blood serum ornithine transcarbamylase, mitochondrial amount" "leiomyosarcoma of the uterine body" - "leiomyosarcoma of the uterine corpus" "body of uterus leiomyosarcoma" + "leiomyosarcoma of the uterine corpus" "uterine corpus leiomyosarcoma" "leiomyosarcoma of uterine body" "leiomyosarcoma of the corpus uteri" @@ -170861,6 +170861,7 @@ "Tricho-hepato-enteric syndrome" "Syndromatic diarrhea" "SD/THE" + "Cryptophthalmos-syndactyly syndrome" "smoldering plasma cell myeloma" "smouldering multiple myeloma" "asymptomatic myeloma" @@ -170870,7 +170871,6 @@ "smouldering Multiple myeloma/plasma cell myeloma" "smouldering myeloma" "asymptomatic plasma cell myeloma" - "Cryptophthalmos-syndactyly syndrome" "Toriello syndrome" "Lassa fever" "LF" @@ -170987,11 +170987,11 @@ "mammalian vulva eccrine carcinoma" "vulvar eccrine adenocarcinoma" "eccrine carcinoma of mammalian vulva" - "protein adhesion measurement" "Oxyhemoglobin/Total Hemoglobin" "HBOXHGB" "blood serum interleukin-28 receptor alpha chain amount" "Granular corneal dystrophy type II" + "protein adhesion measurement" "congenital junctional epidermolysis bullosa" "junctional epidermolysis bullosa" "EBJ" @@ -171010,12 +171010,12 @@ "partial monosomy of chromosome 9" "cystic, mucinous, and serous neoplasm" "FGF23 measurement" - "corneal dystrophy, endothelial, X-linked, X-linked dominant" - "XECD" "spindle cell melanoma of the uvea" "spindle cell uveal melanoma" "uveal spindle cell melanoma" "spindle cell melanoma of uvea" + "corneal dystrophy, endothelial, X-linked, X-linked dominant" + "XECD" "Vivax Malaria" "Plasmodium vivax malaria" "vivax malaria" @@ -171417,15 +171417,6 @@ "giant cell lesion of small bones" "central giant cell (reparative) granuloma" "central giant cell granuloma" - "Glycogenosis type 6B" - "Glycogen storage disease type 6B" - "Hepatic glycogen phosphorylase deficiency" - "Liver glycogen phosphorylase deficiency" - "GSD due to liver glycogen phosphorylase deficiency" - "Glycogenosis due to liver glycogen phosphorylase deficiency" - "Hers disease" - "Hepatic phosphorylase deficiency" - "GSD type 6B" "GSD due to muscle phosphorylase kinase deficiency" "GSD9D" "GSD IXd" @@ -171442,6 +171433,15 @@ "glycogenosis due to muscle phosphorylase kinase deficiency" "glycogen storage disease due to muscle phosphorylase kinase deficiency" "GSD type IXd" + "Glycogenosis type 6B" + "Glycogen storage disease type 6B" + "Hepatic glycogen phosphorylase deficiency" + "Liver glycogen phosphorylase deficiency" + "GSD due to liver glycogen phosphorylase deficiency" + "Glycogenosis due to liver glycogen phosphorylase deficiency" + "Hers disease" + "Hepatic phosphorylase deficiency" + "GSD type 6B" "schwannoma of fifth cranial nerve" "neurilemmoma of fifth cranial nerve" "neurilemmoma of the trigeminal nerve" @@ -171533,8 +171533,8 @@ "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1" "bile acid synthesis defect, congenital, type 1" "congenital bile acid synthesis defect caused by mutation in HSD3B7" - "desmoplastic medulloblastoma" "blood serum nuclear transcription factor Y subunit alpha amount" + "desmoplastic medulloblastoma" "TTN-related myopathy, autosomal recessive" "thyroid cancer, nonmedullary caused by mutation in FOXE1" "FOXE1 thyroid cancer, nonmedullary" @@ -171775,17 +171775,17 @@ "nonsyndromic brachydactyly" "Niemann Pick Disease Type C" "blood serum polypeptide N-acetylgalactosaminyltransferase 4 amount" - "Second segment of right coronary artery" - "Posterior segment of right coronary artery" "ectodermal dysplasia-cataracts-kyphoscoliosis syndrome" "Alves-dos Santos-Castelo syndrome" + "stereotyped repetitive movements NOS (finding)" + "stereotypy habit disorder" + "stereotyped repetitive movements" + "Second segment of right coronary artery" + "Posterior segment of right coronary artery" "caecal appendix" "appendix vermiformis" "appendix" "cecal appendix" - "stereotyped repetitive movements NOS (finding)" - "stereotypy habit disorder" - "stereotyped repetitive movements" "blood serum protein kinase C and casein kinase substrate in neurons protein 2 amount" "Brown-Vialetto-Van Laere syndrome 1" "RTD2" @@ -171948,11 +171948,11 @@ "Pseudomonas syringae tomato" "Pseudomonas syringae (PV. TOMATO)" "OOMD11" - "Hip dysplasia - enchondromata - ecchondroma" "Monosomy 2p21" "2p21 deletion" "Del(2)(p21)" "blood serum aldehyde dehydrogenase X, mitochondrial amount" + "Hip dysplasia - enchondromata - ecchondroma" "SLO syndrome" "SLOS" "7-dehydrocholesterol reductase deficiency" @@ -171999,6 +171999,8 @@ "immunodeficiency 74, COVID19-related, X-linked, X-linked recessive" "autoimmune urticaria" "autoimmune urticaria (disease)" + "Immune deficiency" + "Decreased immune function" "galactose epimerase deficiency" "epimerase deficiency galactosemia" "GALE deficiency" @@ -172006,8 +172008,6 @@ "uridine diphosphate galactose-4-epimerase deficiency" "galactosemia type 3" "UDP-galactose-4-epimerase deficiency" - "Immune deficiency" - "Decreased immune function" "blastic phase CML" "blastic phase chronic granulocytic leukaemia" "blastic phase chronic granulocytic leukemia" @@ -172028,6 +172028,12 @@ "blast phase chronic myelocytic leukaemia" "blast phase chronic myelocytic leukemia" "blastic phase chronic myelogenous leukaemia" + "BE2C" + "BE2_C" + "BE(2)-C cell" + "BE(2)_C" + "BE2-C" + "BE(2) C" "blood serum CD99 molecule-like protein 2 amount" "benign insulitis" "pseudocoxalgia" @@ -172050,12 +172056,6 @@ "Legg Calvé Perthes Disease" "Legg-Calve-Perthes syndrome" "Legg-Calve-Perthes symptom" - "BE2C" - "BE2_C" - "BE(2)-C cell" - "BE(2)_C" - "BE2-C" - "BE(2) C" "Triticum turgidum var. dicoccoides" "Triticum turgidum subsp. dicoccoides" "wild emmer wheat" @@ -172186,6 +172186,7 @@ "amyotrophic lateral sclerosis 5" "ALS5" "arterial tortuosity syndrome" + "disorientated" "TSH producing adenoma of the pituitary gland" "thyroid stimulating hormone secreting adenoma of the pituitary gland" "TSH producing pituitary adenoma" @@ -172222,7 +172223,6 @@ "thyroid stimulating hormone secreting adenoma of the pituitary" "thyroid stimulating hormone secreting adenoma of pituitary gland" "thyroid stimulating hormone producing pituitary gland adenoma" - "disorientated" "trichorhinophalangeal syndrome type 1 and 3" "blood serum actin nucleation-promoting factor WASL amount" "paediatric central nervous system germinoma" @@ -172234,14 +172234,14 @@ "ventral pharyngeal arch 2 skeleton" "ventral hyoid arch" "ventral visceral arch 2" + "blood serum interleukin-31 receptor A amount" "3-carboxy-2,3-dideoxypentaric acid" "1-hydroxypropane-1,2,3-tricarboxylic acid" "Isocitric acid" "spinocerebellar ataxia type 12" "SCA12" - "blood serum interleukin-31 receptor A amount" - "blood serum methylated-DNA--protein-cysteine methyltransferase amount" "atypical HCS" + "blood serum methylated-DNA--protein-cysteine methyltransferase amount" "Medrano-Roldan syndrome" "Capsularis" "Ristella" @@ -172271,11 +172271,11 @@ "optic atrophy, sensorineural hearing loss and polyneuropathy" "Charcot-Marie-Tooth neuropathy X type 5" "optic atrophy, polyneuropathy, and deafness" - "pll" "Tremor of hands" "Hand tremor" "Tremor of hand" "tremors in hands" + "pll" "lung pecomatous tumour" "lung pecomatous tumor" "lung PEComa" @@ -172639,13 +172639,13 @@ "Heterozygous otospondylomegaepiphyseal dysplasia" "Heterozygous OSMED" "Pierre Robin sequence - fetal chondrodysplasia" + "blood serum chondromodulin-1 amount" "Glossitis" "Glossitis (disorder)" "tongue inflammation" "Glossitis NOS (disorder)" "glossitis" "inflammation of tongue" - "blood serum chondromodulin-1 amount" "3-methylbenzyl alcohol" "blood serum neuroguidin amount" "blood serum guanylyl cyclase-activating protein 1 amount" @@ -172774,8 +172774,6 @@ "Hygiene, Mental" "Health, Mental" "Sorsby syndrome" - "blood serum RNA binding protein fox-1 homolog 2 amount" - "acrocapitofemoral dysplasia" "colon NET G1" "colon neuroendocrine tumor G1" "colonic carcinoid tumor" @@ -172791,6 +172789,8 @@ "colon carcinoid tumor (disease)" "colon carcinoid tumor" "colon neuroendocrine neoplasm G1" + "blood serum RNA binding protein fox-1 homolog 2 amount" + "acrocapitofemoral dysplasia" "reduced bone mass" "A549 cell" "A-549" @@ -173070,6 +173070,11 @@ "Hepatoencephalopathy due to COXPD1" "Involuntary rhythmic muscular contractions and relaxations" "Accumulation of fluid in the abdomen" + "juvenile rheumatoid factor-negative polyarthritis" + "rheumatoid factor-negative JIA" + "rheumatoid factor-negative juvenile idiopathic arthritis" + "rheumatoid factor negative juvenile idiopathic arthritis" + "polyarthritis without rheumatoid factor" "immature malignant teratoma of mediastinum" "immature malignant teratoma of the mediastinum" "mediastinum malignant teratoma" @@ -173077,11 +173082,6 @@ "malignant teratoma of the mediastinum" "malignant mediastinal teratoma" "blood serum histone deacetylase 2 amount" - "juvenile rheumatoid factor-negative polyarthritis" - "rheumatoid factor-negative JIA" - "rheumatoid factor-negative juvenile idiopathic arthritis" - "rheumatoid factor negative juvenile idiopathic arthritis" - "polyarthritis without rheumatoid factor" "blood serum lysine-specific demethylase 4C amount" "Osteonecrosis" "Ischemic bone necrosis" @@ -173167,15 +173167,13 @@ "DC.103-11b+.Lv" "relaxation of vascular smooth muscle" "vascular smooth muscle relaxation" - "blood serum slit homolog 1 protein amount" "Tibia vara Blount" "Osteochondrosis deformans tibiae" "Infantile tibia vara" + "blood serum slit homolog 1 protein amount" "TNDM" "transient neonatal diabetes mellitus (disease)" "transient neonatal diabetes mellitus" - "alopecia-progressive neurological defect-endocrinopathy syndrome" - "ANE syndrome" "bone of upper jaw tumor" "neoplasm of bone of upper jaw" "tumour of bone of upper jaw" @@ -173184,6 +173182,8 @@ "tumor of bone of upper jaw" "maxillary neoplasm" "bone of upper jaw neoplasm" + "alopecia-progressive neurological defect-endocrinopathy syndrome" + "ANE syndrome" "XPE" "xeroderma pigmentosum, complementation group type E" "xeroderma pigmentosum V" @@ -173226,8 +173226,8 @@ "long-jawed mudsucker" "7,8,8a,9a-tetrahydrobenzo[1,12]tetrapheno[10,11-b]oxirene-7,8-diol" "7,8,8a,9a-tetrahydrobenzo[10,11]chryseno[3,4-b]oxirene-7,8-diol" - "AG09877 cell" "CE 20:3" + "AG09877 cell" "Cerebellar vermal hypoplasia" "Hypoplastic cerebellar vermis" "Hypoplasia of the cerebellar vermis" @@ -173741,8 +173741,8 @@ "peroxisome biogenesis disorder due to PEX2 defect" "Glyphosate" "N-(phosphonomethyl)glycine" - "disease or disorder of facial nerve" "disease of facial nerve" + "disease or disorder of facial nerve" "disorder of facial nerve" "facial nerve disease" "facial nerve disease or disorder" @@ -174157,8 +174157,6 @@ "blood serum DNA fragmentation factor subunit alpha amount" "blood serum integrin alpha-L amount" "blood serum large ribosomal subunit protein bL28m amount" - "Waaler-Aarskog syndrome" - "Ferlini-Ragno-Calzolari syndrome" "Microbe de la coqueluche" "Bacterium tussis-convulsivae" "Hemophilus pertussis" @@ -174175,6 +174173,8 @@ "GD III" "Gaucher disease type III" "Gaucher disease, juvenile and adult, cerebral" + "Waaler-Aarskog syndrome" + "Ferlini-Ragno-Calzolari syndrome" "blood serum dedicator of cytokinesis protein 2 amount" "particular wear debris osteolysis" "demyelinating HMSN" @@ -174754,6 +174754,9 @@ "Helicobacter Infections" "Helicobacter Pylori Infection" "Helicobacter pylori infectious disease" + "kidney inflammation" + "nephritis" + "inflammation of kidney" "focal epilepsy-intellectual disability-dysarthria-ataxia syndrome" "Sphingomonas wittichii strain RW1" "Sphingomonas wittichii DSM 6014" @@ -174761,9 +174764,6 @@ "Sphingomonas sp. RW1" "Degos genodermatosis \"en cocardes\"" "Degos genodermatosis" - "kidney inflammation" - "nephritis" - "inflammation of kidney" "dSMA4" "autosomal recessive distal spinal muscular atrophy type 4" "distal spinal muscular atrophy type 4" @@ -174858,9 +174858,9 @@ "vermiform appendix carcinoid tumour (disease)" "vermiform appendix carcinoid tumor" "appendix neuroendocrine tumour G1 (carcinoid)" + "previtillogenic ovarian follicle" "Mucopolysaccharidosis type 9" "Mucopolysaccharidosis type IX" - "previtillogenic ovarian follicle" "fallopian tube serous cystadenofibroma" "fallopian tube cystadenofibroma" "cystadenofibroma of fallopian tube" @@ -175305,11 +175305,11 @@ "Gaucher-like disease" "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" "Gaucher disease type 3C" + "Pierre Robin sequence associated with collagen disease" "presbycusis" "age-related hearing loss" "age-related hearing impairment" "ARHI" - "Pierre Robin sequence associated with collagen disease" "Zlotogora-Ogur syndrome" "Zlotogora-Zilberman-Tenenbaum syndrome" "cleft lip/palate-ectodermal dysplasia syndrome" @@ -177098,14 +177098,14 @@ "choreatic disease" "choreia" "benign familial chorea" - "cardiac tamponade" - "pericardial tamponade" - "rose's tamponade" "undifferentiated esophageal carcinoma" "oesophagus undifferentiated carcinoma" "esophagus undifferentiated carcinoma" "undifferentiated esophageal cancer" "esophageal undifferentiated carcinoma" + "cardiac tamponade" + "pericardial tamponade" + "rose's tamponade" "cystinosis" "cystine storage disease" "Protein defect of cystin transport" @@ -177400,11 +177400,11 @@ "ARMD11" "TKT deficiency" "short stature-developmental delay-congenital heart defect syndrome" + "TAG 58:9" "MRD72" "autosomal dominant intellectual developmental disorder-72" "SRRM2-related neurodevelopmental disorder" "developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome" - "TAG 58:9" "dengue virus, susceptibility to" "4-hydroxy-3-methoxybenzoate" "vanillate" @@ -177770,7 +177770,6 @@ "mitral stenosis" "mitral valve stenosis" "Mitral Valve Stenosis" - "malignant urethral neoplasm" "malignant urethra tumour" "malignant tumour of the urethra" "urethral Ca" @@ -177785,6 +177784,7 @@ "malignant tumour of urethra" "malignant urethral tumour" "cancer of urethra" + "malignant urethral neoplasm" "Familial keratoconus with cataract" "Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome" "KTCNCT" @@ -177867,8 +177867,8 @@ "orbit neoplasm" "tumor of the orbit" "tumor of orbit" - "neoplasm of orbit of skull" "orbital tumor" + "neoplasm of orbit of skull" "orbit tumor" "neoplasm of orbit" "orbital neoplasms" @@ -178069,6 +178069,7 @@ "pre-BI cell" "blood serum alpha-1B-glycoprotein amount" "GM17824 cell" + "HBs IgG measurement" "malignant oculomotor nerve neoplasm" "oculomotor nerve cancer" "cancer of oculomotor nerve" @@ -178080,7 +178081,6 @@ "adult spinal cord ependymoma" "epibranchial placodes" "blood serum MHC class II histocompatibility antigen gamma chain amount" - "HBs IgG measurement" "immune system organ" "Phosphomannomutase 2 deficiency" "CDG-Ia" @@ -178215,8 +178215,8 @@ "colonic mucous membrane" "colon mucosa" "fallopian tube serous adenocarcinoma" - "Iron-refractory iron deficiency anemia" "laryngeal diphtheria" + "Iron-refractory iron deficiency anemia" "Ehlers-Danlos syndrome, spondylodysplastic type, 2" "Beta3GalT6-deficient EDS" "Ehlers-Danlos syndrome, progeroid type, 2" @@ -178375,11 +178375,11 @@ "Rickettsia conorii spotted fever" "Boutonneuse Fever" "South African tick-bite fever (disorder)" + "blood serum bridging integrator 3 amount" "leiomyoma of the vagina" "vaginal leiomyoma" "vagina leiomyoma" "leiomyoma of vagina" - "blood serum bridging integrator 3 amount" "Abnormal shape of upper motor neuron" "Hypergonadotrophic hypogonadism" "Primary hypogonadism" @@ -179291,11 +179291,11 @@ "Salmonella enterica subsp. enterica serovar Typhimurium strain LT2-LTL2" "Salmonella enterica subsp. enterica serovar Typhimurium strain LT2" "Salmonella typhimurium LT2" - "blood serum uroporphyrinogen decarboxylase amount" "phenylketonuric embryopathy" "maternal PKU" "maternal hyperphenylalaninemia" "hyperphenylalaninemic embryopathy" + "blood serum uroporphyrinogen decarboxylase amount" "HMG-CoA lyase deficiency" "deficiency of hydroxymethylglutaryl-CoA lyase" "3-OH 3-Methyl glutaric aciduria" @@ -179345,9 +179345,9 @@ "GM17226 cell" "HBc IgG measurement" "blood serum keratin, type II cytoskeletal 71 amount" + "Disease with diffuse palmoplantar hyperkeratosis as a major feature" "alcohol amnestic disorder" "Heterotaxia" - "Disease with diffuse palmoplantar hyperkeratosis as a major feature" "carbohydrate deficient glycoprotein syndrome type 1L" "congenital disorder of glycosylation type 1L" "ALG9-CDG" @@ -179838,18 +179838,18 @@ "blood serum hyaluronidase-4 amount" "autosomal recessive cerebellar ataxia due to GBA2 deficiency" "Kaposi sarcoma, susceptibility to" - "Swiss Webster" - "Crl:CFW(SW)" "TPM3-related myopathy" "congenital myopathy related to TPM3" "TPM3 myopathy" - "T.8SP24int.Th" - "CD24-positive, CD8 single-positive semimature thymocyte" + "Swiss Webster" + "Crl:CFW(SW)" "pigs" "pig" "Sus scrofus" "wild boar" "swine" + "T.8SP24int.Th" + "CD24-positive, CD8 single-positive semimature thymocyte" "POROK1" "Rhodopseudomonas palustris strain CGA009" "Rhodopseudomonas palustris str. CGA009" @@ -180478,12 +180478,12 @@ "immunodeficiency 15B" "SCID due to IKK2 deficiency" "immunodeficiency type 15" - "PEX13 related Zellweger spectrum disorder" - "peroxisome biogenesis disorder due to PEX13 defect" "Mononegavirales caused disease or disorder" "Mononegavirales infectious disease" "Mononegavirales Infections" "Mononegavirales disease or disorder" + "PEX13 related Zellweger spectrum disorder" + "peroxisome biogenesis disorder due to PEX13 defect" "blood serum serpin H1 amount" "5-fluoropyrimidine-2,4(1H,3H)-dione" "5-fluorouracil" @@ -180603,12 +180603,12 @@ "aneurysm of coronary vessels" "extracellular space of host" "interbranchial IV" + "blood serum EMI domain-containing protein 1 amount" "panniculus adiposus telae subcutaneae" "panniculus adiposus (tela subcutanea)" "subcutaneous fat layer" "fatty layer of subcutaneous tissue" "hypodermis fat layer" - "blood serum EMI domain-containing protein 1 amount" "BTI-TN-5B1-4" "Tn 5B1-4" "myopathy caused by mutation in FKRP" @@ -180722,9 +180722,9 @@ "Underarm" "blood serum Sphingomyelin (d32:1) amount" "infiltrating bladder lymphoepithelioma-like carcinoma" - "(11Z)-N-(2-hydroxyethyl)icos-11-enamide" "trisomy 5q35" "dup(5)(q35)" + "(11Z)-N-(2-hydroxyethyl)icos-11-enamide" "mesomelic dwarfism-small genitalia syndrome" "Robinow dwarfism" "fetal face syndrome" @@ -181291,11 +181291,11 @@ "Thyroiditis, Suppurative" "Infectious thyroiditis (disorder)" "acute suppurative thyroiditis (disorder)" - "Trisomy 2q31.1" - "Dup(2)(q31.1)" "PCH" "Pontoneocerebellar atrophy" "Pontoneocerebllar hypoplasia" + "Trisomy 2q31.1" + "Dup(2)(q31.1)" "Monosomy 17q12" "Del(17)(q12)" "body mass index QTL16" @@ -181894,9 +181894,9 @@ "AKT2-related FPLD" "SW-707" "SW 707" + "2fTGH-U6A" "GM17227 cell" "peroxisome biogenesis disorder 10A (Zellweger)" - "2fTGH-U6A" "anal atresia" "congenital atresia of anus" "congenital or infantile occlusion of anus" @@ -181961,7 +181961,6 @@ "autosomal recessive nonsyndromic hearing loss 31" "Single cell RNA barcoding and sequencing" "blood serum protein Aster-C amount" - "Leucoplakia of penis" "Leukoplakia of penis (disorder)" "kraurosis of penis" "kraurosis penis" @@ -181971,6 +181970,7 @@ "leukoplakia of penis" "Kraurosis of penis" "Balanitis Xerotica Obliterans" + "Leucoplakia of penis" "high-grade pancreatic neuroendocrine carcinoma" "malignant islet cell tumor" "poorly-differentiated neuroendocrine neoplasm of pancreas" @@ -182033,8 +182033,8 @@ "chronic atrial dysrhythmia-intestinal motility disorder" "chronic atrial and intestinal dysrhythmia" "caid syndrome" - "TCM type" "7-chloro-4-hydroxyquinoline-2-carboxylic acid" + "TCM type" "blood serum SLIT-ROBO Rho GTPase-activating protein 2 amount" "blood serum Max-like protein X amount" "Pierre Robin sequence associated with bone disease" @@ -182368,8 +182368,8 @@ "hemoglobin A1 levels" "HbA1 levels" "inflammation of vein" - "vein inflammation" "phlebitis" + "vein inflammation" "Small for gestational age" "Low birth weight" "Birth weight less than 10th percentile" @@ -182474,11 +182474,6 @@ "CMD1B" "MDC1B" "congenital muscular dystrophy type 1B" - "pancreatic large cell NEC G3" - "pancreas large cell neuroendocrine carcinoma" - "pancreatic large cell neuroendocrine carcinoma" - "pancreatic large cell NEC" - "large cell neuroendocrine carcinoma of pancreas" "DTGA" "DTGA1" "dextro-looped transposition of the great arteries type 1" @@ -182486,6 +182481,11 @@ "transposition of the great arteries, dextro-looped type 1" "dextro-looped transposition of the great arteries caused by mutation in MED13L" "dextro-looped transposition of the great arteries 1" + "pancreatic large cell NEC G3" + "pancreas large cell neuroendocrine carcinoma" + "pancreatic large cell neuroendocrine carcinoma" + "pancreatic large cell NEC" + "large cell neuroendocrine carcinoma of pancreas" "brain disorder" "brain disease" "disease of brain" @@ -182779,6 +182779,12 @@ "blepharon" "Andropogon gerardii Vitman" "Abnormality of the hip joint" + "melancholic depression" + "melancholia" + "depression with melancholic features" + "Melancholia, Involutional" + "Involutional Melancholia" + "Melancholias" "BARMACS" "neurodevelopmental disorder with cataracts and variable microcephaly" "cardiac ectopic contractions" @@ -182787,12 +182793,6 @@ "premature cardiac complexes" "supraventricular and ventricular ectopy" "cardiac ectopics" - "melancholic depression" - "melancholia" - "depression with melancholic features" - "Melancholia, Involutional" - "Involutional Melancholia" - "Melancholias" "blood serum glutaryl-CoA dehydrogenase, mitochondrial amount" "blood serum mediator of RNA polymerase II transcription subunit 20 amount" "auriculo-condylar syndrome" @@ -182847,8 +182847,8 @@ "sarcomatoid carcinoma of the rectum" "rectum sarcomatoid carcinoma" "rectal spindle cell carcinoma" - "mandibuloacral dysplasia with type A lipodystrophy" "rheumatoid lung" + "mandibuloacral dysplasia with type A lipodystrophy" "nephrotic syndrome, type 4" "nephrotic syndrome caused by mutation in WT1" "WT1 nephrotic syndrome" @@ -183811,9 +183811,9 @@ "giant axonal neuropathy caused by mutation in DCAF8" "CMT2 with giant axons" "autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons" - "CE 14:0" "fenazaquin" "4-[2-(4-tert-butylphenyl)ethoxy]quinazoline" + "CE 14:0" "blood serum protein kish-A amount" "benign larynx tumor" "larynx benign neoplasm" @@ -184327,11 +184327,11 @@ "pediatric immature ovarian teratoma" "Burkholderia cepacia genomovar II" "neurofibromatosis type 2" - "BL-1" "vitreous detachment" "detachment Of vitreous" "vitreous, detachment Of" "Vitreous Detachment" + "BL-1" "MED" "blood serum sorcin amount" "glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome" @@ -184354,7 +184354,6 @@ "muskmelon" "Oriental melon" "Cucurbita melo L." - "Chitty-Hall-Baraitser syndrome" "small cell carcinoma of urinary bladder" "small cell neuroendocrine carcinoma of the urinary bladder" "bladder small cell neuroendocrine carcinoma" @@ -184368,6 +184367,7 @@ "small cell carcinoma of the urinary bladder" "poorly differentiated neuroendocrine carcinoma of the bladder" "small cell bladder cancer" + "Chitty-Hall-Baraitser syndrome" "blood serum N-alpha-acetyltransferase 20 amount" "Isochromosome type Y" "ABSD" @@ -184456,11 +184456,11 @@ "adenocarcinoma - colon" "adenocarcinoma of the colon" "blood serum beta-1,3-galactosyltransferase 2 amount" + "polydactyly, postaxial, type A6" "MSD" "Multiple sulfatase deficiency disease" "Austin type juvenile sulfatidosis" "Mucosulfatidosis" - "polydactyly, postaxial, type A6" "pigmented nodular adrenocortical disease, primary, type 1" "primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A" "PRKAR1A primary pigmented nodular adrenocortical disease" @@ -184509,12 +184509,12 @@ "Nuclei of stria terminalis" "Intercalate nucleus of stria terminalis" "Stria terminalis nucleus" - "hereditary sensory and autonomic neuropathy type I" - "Hereditary Sensory Neuropathy Type I" - "HSAN1" "PBD-ZSS" "PBD-ZSD" "PBD-Zellweger spectrum disorder" + "hereditary sensory and autonomic neuropathy type I" + "Hereditary Sensory Neuropathy Type I" + "HSAN1" "iatrogenic Kaposi sarcoma" "iatrogenic Kaposi's sarcoma" "partial monosomy of the long arm of chromosome 2" @@ -184546,8 +184546,8 @@ "fetomaternal hemorrhage" "fetal maternal hemorrhage" "fetal-maternal hemorrhage" - "blood serum protocadherin beta-2 amount" "T-B+ SCID due to IL-7Ralpha deficiency" + "blood serum protocadherin beta-2 amount" "AML, del(13)(q14q21)" "AML, del(13q14-q21)" "AML, del(13)(q14-q21)" @@ -184861,9 +184861,9 @@ "Platyhelminthes developmental stage" "flatworm life stage" "10XV1" - "blood serum bifunctional coenzyme A synthase amount" "hemolytic anaemia due to glutathione synthetase deficiency" "hemolytic anemia due to glutathione synthetase deficiency" + "blood serum bifunctional coenzyme A synthase amount" "Facial cleft" "Tessier facial cleft" "Cleft of the face" @@ -185002,9 +185002,9 @@ "hereditary nonpolyposis colon cancer" "pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome" "PAGOD syndrome" - "blood serum actin-binding LIM protein 3 amount" "Pleuronichthys verticalis Jordan & Gilbert, 1880" "hornyhead turbot" + "blood serum actin-binding LIM protein 3 amount" "hepatitis type E" "Hepatitis E virus hepatitis" "Hepatitis E virus caused hepatitis" @@ -185187,8 +185187,8 @@ "SMAD7 colorectal cancer" "colorectal cancer, susceptibility to, 3" "colorectal cancer caused by mutation in SMAD7" - "displacement of intervertebral disc" "blood serum myosin light chain 4 amount" + "displacement of intervertebral disc" "delayed-type hypersensitivity" "type IV hypersensitivity reaction" "type IV hypersensitivity" @@ -185794,8 +185794,8 @@ "hip fracture" "Fractures, Trochanteric" "Fractures, Subtrochanteric" - "Fractures, Intertrochanteric" "Fractures, Hip" + "Fractures, Intertrochanteric" "Hip Fractures" "Genetic heterogeneity" "CYP3A4 enzyme activity. " @@ -185825,17 +185825,17 @@ "partial monosomy of chromosome 3q" "partial deletion of the long arm of chromosome type 3" "partial deletion of chromosome 3q" - "mel501a" "endocrine tuberculosis" "Tuberculosis, Endocrine" + "mel501a" "level of PC(14:0_18:1) in blood serum" "blood serum PC(14:0_18:1) amount" "parietal epithelial layer" - "Bowman's parietal epithelium" "renal glomerular capsule epithelium" + "Bowman's parietal epithelium" "parietal layer of glomerular capsule" - "outer layer of glomerular capsule" "parietal capsular epithelium" + "outer layer of glomerular capsule" "glomerular capsule parietal layer" "parietal epithelium of Bowman's capsule" "parietal layer of Bowman capsule" @@ -186286,7 +186286,6 @@ "tendon sheath inflammation" "tenosynovitis" "Inflammation of tendon sheath" - "blood serum histo-blood group ABO system transferase amount" "delta hepatitis" "hepatitis type D" "Hepatitis D virus" @@ -186297,6 +186296,7 @@ "HDV" "hepatitis D" "Hepatitis delta virus hepatitis" + "blood serum histo-blood group ABO system transferase amount" "pulmonary hypertension, primary, 1" "pulmonary hypertension, familial primary, 1, with or without HHT" "pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated" @@ -186352,6 +186352,7 @@ "Halal-Setton-Wang syndrome" "Pink eye" "Sharma-Kapoor-Ramji syndrome" + "Spherophakia - brachymorphia" "blood serum hemoglobin subunit gamma-2 amount" "rhabdomyosarcoma (disease) of extrahepatic bile duct" "rhabdomyosarcoma of extrahepatic bile duct" @@ -186361,7 +186362,6 @@ "bile duct rhabdomyosarcoma (disease)" "rhabdomyosarcoma of the extrahepatic bile duct" "blood serum calsenilin amount" - "Spherophakia - brachymorphia" "4-amino-N-[(1-ethylpyrrolidin-2-yl)methyl]-5-(ethylsulfonyl)-2-methoxybenzamide" "blood serum AN1-type zinc finger protein 1 amount" "ONT P2 Solo" @@ -186453,6 +186453,7 @@ "lymphangiomyoma" "lymphangioleiomyoma" "blood serum cochlin amount" + "tumour of the oropharynx" "tumor of oropharynx" "oropharyngeal neoplasms" "oropharyngeal tumor" @@ -186466,7 +186467,6 @@ "neoplasm of the oropharynx" "tumor of the oropharynx" "neoplasm of oropharynx" - "tumour of the oropharynx" "CD16-mDC" "CD16+ mDC" "transitional papilloma, inverted" @@ -186515,8 +186515,8 @@ "cardiac anomalies - developmental delay - facial dysmorphism syndrome" "mental retardation and distinctive Facial features with or without Cardiac defects" "blood serum Phosphatidylcholine (18:0_20:3) amount" - "CMT due to MARS mutation" "blood serum Tax1-binding protein 1 amount" + "CMT due to MARS mutation" "1H-imidazol-3-ium" "CAHMR syndrome" "blood serum Arf-GAP domain and FG repeat-containing protein 1 amount" @@ -186560,9 +186560,6 @@ "syndromic microphthalmia type 5" "vitamin B12-unresponsive methylmalonic aciduria type mut0" "complete deficiency of methylmalonyl-CoA mutase" - "adult-onset CPEO with mitochondrial myopathy" - "myelin sheath maintenance" - "blood serum Janus kinase and microtubule-interacting protein 3 amount" "thyroid gland well differentiated carcinoma" "well-differentiated thyroid cancer" "differentiated thyroid gland cancer" @@ -186574,10 +186571,13 @@ "papillary or follicular thyroid carcinoma" "well differentiated thyroid gland carcinoma" "differentiated thyroid cancer" + "adult-onset CPEO with mitochondrial myopathy" + "myelin sheath maintenance" + "blood serum Janus kinase and microtubule-interacting protein 3 amount" "granulomatous dermatitis" + "cholangitis, chronic" "steel syndrome" "bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome" - "cholangitis, chronic" "Triticum durum subsp. durum" "Triticum rigidum ssp. durum" "durum wheat" @@ -186959,6 +186959,9 @@ "Fredrickson type IIa hyperlipoproteinemia" "Hyperlipoproteinemia Type II" "familial hypercholesterolemia" + "AML, t(7;12)(q36;p13)" + "Oriental migratory locust" + "Locusta migratoria manilensis (Meyen, 1835)" "anus skin tag" "anal fibroepithelial polyp" "fibrous polyp of the anus" @@ -186967,9 +186970,6 @@ "fibroepithelial polyp of the anus" "fibroepithelial polyp of anus" "anal tag" - "AML, t(7;12)(q36;p13)" - "Oriental migratory locust" - "Locusta migratoria manilensis (Meyen, 1835)" "blood serum segment polarity protein dishevelled homolog DVL-2 amount" "multiple epiphyseal dysplasia with Robin phenotype" "X-linked inherited ichthyosis syndromic form" @@ -187560,8 +187560,8 @@ "Neurolipocytoma" "Neurocytoma" "Harder, denser, fracture-prone bones" - "Isolated Noncompaction of the Ventricular Myocardium" "Familial doughnut lesions of skull" + "Isolated Noncompaction of the Ventricular Myocardium" "blood serum protein-tyrosine sulfotransferase 2 amount" "complex neurodevelopmental disorder" "proximal part of limb" @@ -187782,6 +187782,7 @@ "Isovalericacidemia" "isovaleric acid CoA dehydrogenase deficiency" "isovaleryl-CoA dehydrogenase deficiency" + "tumor of hematopoietic and lymphoid tissues" "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" "hypomyelinating leukodystrophy type 4" "mitochondrial HSP60 chaperonopathy" @@ -187790,7 +187791,6 @@ "HSPD1 leukodystrophy" "MitCHAP60 disease" "leukodystrophy caused by mutation in HSPD1" - "tumor of hematopoietic and lymphoid tissues" "blood serum retinoid-binding protein 7 amount" "influenza, severe, susceptibility to" "S. cerevisiae induction media" @@ -188088,8 +188088,8 @@ "Fluctuating myotonia" "MF" "exercise-induced delayed-onset myotonia" - "GM17733 cell" "blood serum exosome complex component RRP40 amount" + "GM17733 cell" "Cryptomicrotia-brachydactyly syndrome" "Tonoki-Ohura-Niikawa syndrome" "Mirror foot, bilateral" @@ -188230,7 +188230,6 @@ "benign smooth muscle tumor" "smooth muscle tissue benign neoplasm" "benign neoplasm of smooth muscle" - "blood serum interleukin-23 receptor amount" "Charcot-Marie-Tooth disease neuronal type 2D" "Charcot-Marie-Tooth neuropathy type 2D" "autosomal dominant Charcot-Marie-Tooth disease type 2D" @@ -188238,6 +188237,7 @@ "GARS Charcot-Marie-Tooth disease type 2" "CMT2D" "Charcot-Marie-Tooth disease type 2 caused by mutation in GARS" + "blood serum interleukin-23 receptor amount" "severe dystrophinopathy, Duchenne and Becker type" "supraglottic part of larynx neoplasm (disease)" "supraglottic part of larynx tumour" @@ -189124,13 +189124,13 @@ "heart-hand syndrome, Slovenian type" "short toes, unilateral" "Baker-Gordon syndrome" - "blood serum peroxynitrite isomerase THAP4 amount" "autosomal recessive Charcot-Marie-Tooth disease type 2B5" "severe early-onset axonal neuropathy due to NEFL deficiency" "SEOAN due to NEFL deficiency" "AR-CMT2B5" "severe early-onset axonal neuropathy due to light neurofilament subunit deficiency" "Charcot-Marie-Tooth disease type 2B5" + "blood serum peroxynitrite isomerase THAP4 amount" "kappa light chain deficiency" "recurrent infections associated with rare immunoglobulin isotypes deficiency" "kappa-chain deficiency" @@ -190654,8 +190654,8 @@ "dyskeratosis congenita, autosomal dominant 2" "DKCA2" "dyskeratosis congenita, autosomal dominant type 2" - "BNP:NT-proBNP ratio" "teratoma, malignant" + "BNP:NT-proBNP ratio" "Geobacter sulfurreducens strain PCA" "Geobacter sulfurreducens str. PCA" "Non-phenylketonuric hyperphenylalaninemia" @@ -190719,8 +190719,8 @@ "fin buds" "Hepatocholangiocellular adenoma" "Hepatocholangioma" - "bile duct adenoma" "Cholangioma" + "bile duct adenoma" "Cholangioadenoma" "adenoma of bile duct" "bile duct adenoma (morphologic abnormality)" @@ -190851,8 +190851,8 @@ "tumour of brachial plexus" "tumour of brachial nerve plexus" "tumor of brachial nerve plexus" - "brachial nerve plexus neoplasm (disease)" "tumor of brachial plexus" + "brachial nerve plexus neoplasm (disease)" "brachial nerve plexus tumor" "neoplasm of brachial nerve plexus" "neoplasm of the brachial plexus" @@ -190979,8 +190979,8 @@ "Yoshimura-Takeshita syndrome" "Del(12)(p12.1)" "Monosomy 12p12.1" - "octadecenoylcarnitine" "trichoodontoonychial dysplasia with bone deficiency in frontoparietal region" + "octadecenoylcarnitine" "blood serum ADP-ribosylation factor-like protein 11 amount" "Parotid" "Naegeli syndrome" @@ -191047,6 +191047,10 @@ "Monosomy 1pter" "Deletion 1p36" "Monosomy 1p36" + "blood phosphate level" + "serum inorganic phosphorus concentration" + "Serum phosphate level" + "serum inorganic phosphate concentration" "Sciaena labrax" "Dicentrarchus labrax (Linnaeus, 1758)" "Morone labrax" @@ -191059,10 +191063,6 @@ "desmoplastic cutaneous (skin) melanoma" "desmoplastic melanoma" "brachial plexus" - "blood phosphate level" - "serum inorganic phosphorus concentration" - "Serum phosphate level" - "serum inorganic phosphate concentration" "blood serum CYFIP-related Rac1 interactor A amount" "Neuroaspergillosis" "neuroaspergillosis" @@ -191151,9 +191151,9 @@ "Keratitis, Herpetic" "PAC-Seq" "GM17818 cell" - "GM17740 cell" "25-hydroxycalciferol" "25-hydroxyergocalciferol" + "GM17740 cell" "MMP-1" "inborn error of cellular copper ion homeostasis" "inborn cellular copper ion homeostasis disorder" @@ -191384,9 +191384,9 @@ "age-related macular degeneration caused by mutation in HTRA1" "age related macular degeneration type 7" "HTRA1 age-related macular degeneration" - "female pseudohermaphroditism-skeletal anomalies syndrome" "Del(5)(q14.3)" "monosomy 5q14.3" + "female pseudohermaphroditism-skeletal anomalies syndrome" "mental retardation, autosomal dominant type 7" "MRD7" "autosomal dominant intellectual disability 7" @@ -191398,6 +191398,8 @@ "generalised anxiety disorder" "generalised anxiety disorders" "blood serum PDZ and LIM domain protein 5 amount" + "Abnormality of the bone of the forehead" + "Abnormality of the frontal bone" "Calculi, Kidney" "Renal Calculus" "Kidney stones" @@ -191418,8 +191420,6 @@ "Calculus, Kidney" "Renal Calculi" "Calculus, Renal" - "Abnormality of the bone of the forehead" - "Abnormality of the frontal bone" "acquired hypopituitarism" "malignant colorectal neoplasm" "colorectal cancer" @@ -191512,8 +191512,6 @@ "Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome" "MMIHS" "Berdon syndrome" - "X-linked MSMD" - "mendelian susceptibility to mycobacterial diseases, X-linked" "Gestational herpes" "Herpes gestationis (disorder)" "herpes gestationis" @@ -191523,6 +191521,8 @@ "gestational pemphigoid" "Herpes gestationis" "Herpes gestationis NOS (disorder)" + "X-linked MSMD" + "mendelian susceptibility to mycobacterial diseases, X-linked" "Boylan-Dew syndrome" "craniosynostosis syndrome, autosomal recessive" "autosomal recessive craniosynostosis" @@ -191595,8 +191595,8 @@ "Echinococcus infectious disease" "Echinococcus caused disease or disorder" "liver echinococcus" - "blood serum small ribosomal subunit protein eS25 amount" "magnesium sulfate" + "blood serum small ribosomal subunit protein eS25 amount" "vertebrate tooth" "dental element" "dentine containing tooth" @@ -191960,9 +191960,9 @@ "HLHS" "Familial epilepsy and mental retardation limited to females" "EFMR" - "blood serum E3 ubiquitin-protein ligase pellino homolog 2 amount" "perineal region" "regio perinealis" + "blood serum E3 ubiquitin-protein ligase pellino homolog 2 amount" "sequential fluorescence in situ hybridization" "malignant biphasic mesothelioma, malignant" "biphasic mesothelioma" @@ -192096,8 +192096,8 @@ "oropharyngeal cancer" "malignant oropharyngeal neoplasm" "malignant oropharyngeal tumor" - "malignant neoplasm of posterior wall of oropharynx" "malignant tumor of posterior wall of oropharynx" + "malignant neoplasm of posterior wall of oropharynx" "malignant neoplasm of oropharynx" "malignant neoplasm of junctional region of oropharynx" "oropharyngeal carcinoma" @@ -192535,10 +192535,10 @@ "Multicentric osteolysis - nodulosis - arthropathy" "ammonium nitrate" "GM17193 cell" - "blood serum keratin, type I cytoskeletal 20 amount" "MKN7 cell" "MKN-7 cell" "MKN-7" + "blood serum keratin, type I cytoskeletal 20 amount" "blood serum kinetochore protein NDC80 amount" "Xanthurenic aciduria" "kynureninase deficiency" @@ -192703,10 +192703,10 @@ "Ovine herpesvirus type 2" "lysophosphatidylcholine 17:0" "genetic hyperparathyroidism" + "GABA transaminase deficiency" "megalocornea 1, X-linked, X-linked recessive" "isolated congenital megalocornea" "congenital anterior megalophthalmia" - "GABA transaminase deficiency" "acute hepatic failure" "fulminant hepatic failure" "adult stage" diff --git a/src/ontology/reports/xrefs.tsv b/src/ontology/reports/xrefs.tsv index 9fa6e22c..3a9e6312 100644 --- a/src/ontology/reports/xrefs.tsv +++ b/src/ontology/reports/xrefs.tsv @@ -8,9 +8,9 @@ "BTO:0002960" "CLO:0003674" "RRID:CVCL_0293" - "PMID:29875488" "UMLS:C2931484" "MeSH:C537400" + "PMID:29875488" "Orphanet:280576" "MEDGEN:462796" "GARD:11008" @@ -556,8 +556,8 @@ "UMLS:C2675440" "DOID:0111349" "PMID:29875488" - "UMLS:C4022661" "PMID:31396565" + "UMLS:C4022661" "PMID:29875488" "NCIT:C5462" "UMLS:C1334238" @@ -598,16 +598,16 @@ "OMIM:604712" "MAT:0000479" "PMID:22939981" + "ICD10:Q87.2" + "OMIM:103285" + "MeSH:C538052" + "UMLS:C1863204" "OMIM:616079" "GARD:17640" "MEDGEN:863583" "ICD10CM:H35.5" "Orphanet:397758" "UMLS:C4015146" - "ICD10:Q87.2" - "OMIM:103285" - "MeSH:C538052" - "UMLS:C1863204" "ICD10:Q87.5" "OMIM:309500" "PMID:31530798" @@ -1077,11 +1077,11 @@ "MESH:D057165" "UMLS:C2718000" "MEDGEN:403490" - "PMID:24816252" "UMLS:C1858106" "OMIM:604805" "MeSH:C537484" "ICD10:G11.4" + "PMID:24816252" "UMLS:C0334459" "SCTID:403996004" "ONCOTREE:IFS" @@ -1140,8 +1140,8 @@ "SCTID:253153000" "MEDGEN:98129" "Orphanet:268950" - "PMID:29875488" "UMLS:C4021546" + "PMID:29875488" "GARD:2009" "UMLS:C4706366" "MEDGEN:1642311" @@ -1612,6 +1612,7 @@ "UMLS:C0263627" "OMIM:302960" "PMID:29875488" + "PMID:28240269" "DrugBank:DB01159" "MeSH:D006221" "SNOMEDCT:63682003" @@ -1638,7 +1639,6 @@ "UMLS:C0013533" "DOID:10911" "SCTID:271532008" - "PMID:28240269" "NCIt:C81278" "UMLS:C2825556" "UMLS:C4025361" @@ -1862,15 +1862,15 @@ "UMLS:C2931427" "OMIM:145981" "MeSH:C537146" + "HP:0031493" + "NCIT:C7132" + "UMLS:C0205854" + "MEDGEN:64458" "UMLS:C2931182" "UMLS:C0155930" "ICD10:K03.5" "MedDRA:10044019" "MeSH:D020254" - "HP:0031493" - "NCIT:C7132" - "UMLS:C0205854" - "MEDGEN:64458" "NCIt:C66975" "MEDGEN:276988" "NCIT:C40320" @@ -2317,9 +2317,9 @@ "OMIM:619690" "MEDGEN:1794266" "UMLS:C5562056" - "PMID:29875488" "OMIM:615873" "ICD10:Q87.0" + "PMID:29875488" "OMIM:617920" "Orphanet:284385" "GARD:21119" @@ -2447,8 +2447,8 @@ "EHDAA:1265" "EV:0100018" "MFO:0080900" - "OMIM:178330" "PMID:29875488" + "OMIM:178330" "GARD:2638" "OMIM:141500" "DOID:0111181" @@ -2951,6 +2951,7 @@ "Reactome:R-HSA-499981" "PMID:29875488" "PMID:28240269" + "RRID:CVCL_1819" "DOID:0111668" "MEDGEN:98036" "Orphanet:1946" @@ -2959,7 +2960,6 @@ "UMLS:C0406740" "GARD:3128" "SCTID:109478007" - "RRID:CVCL_1819" "UMLS:C5551484" "OMIM:215150" "MEDGEN:1790497" @@ -3185,6 +3185,7 @@ "OMIM:619228" "UMLS:C5543197" "MEDGEN:1785587" + "PMID:29875488" "Orphanet:101000" "GARD:5372" "MESH:C536858" @@ -3194,7 +3195,6 @@ "SCTID:230264003" "MEDGEN:97950" "ICD9:335.29" - "PMID:29875488" "PMID:35995766" "PMID:35347128" "MESH:D012162" @@ -3247,7 +3247,6 @@ "ICD9:033.9" "ICD10CM:A37.1" "MEDGEN:12159" - "SNOMEDCT:74427007" "OMIM:616030" "OMIM:614837" "UMLS:C0162809" @@ -3271,6 +3270,11 @@ "OMIM:618841" "OMIM:615270" "OMIM:614838" + "SNOMEDCT:74427007" + "ICD10:E77.1" + "OMIM:256550" + "OMIM:256150" + "PMID:29545511" "ICD9:277.6" "UMLS:C0878682" "MEDGEN:168057" @@ -3282,10 +3286,6 @@ "Orphanet:48818" "DOID:0050711" "NANDO:1200540" - "PMID:29545511" - "ICD10:E77.1" - "OMIM:256550" - "OMIM:256150" "MEDGEN:9822" "OMIM:610448" "GARD:18493" @@ -3925,13 +3925,13 @@ "ICD9:446.5" "MedDRA:10043207" "PMID:36168886" + "CAS:41017-96-3" + "Reaxys:4418289" + "HMDB:HMDB0028920" "DOID:0112006" "UMLS:C5436498" "OMIM:618963" "MEDGEN:1735911" - "CAS:41017-96-3" - "Reaxys:4418289" - "HMDB:HMDB0028920" "NCIt:C4661" "MEDGEN:234051" "NCIT:C35688" @@ -4308,6 +4308,7 @@ "FMA:63631" "EVM:2990031" "MmusDv:0000031" + "PMID:35347128" "OMIM:600977" "OMIM:608194" "OMIM:615374" @@ -4336,7 +4337,6 @@ "OMIM:610381" "OMIM:600624" "OMIM:603649" - "PMID:35347128" "ICDO:8982/1" "DOID:2661" "UMLS:C0027070" @@ -4525,9 +4525,9 @@ "RRID:CVCL_4213" "BTO:0002522 " "CLO:0037256" - "PMID:28701861" "RRID:CVCL_0307" "BTO:0002828" + "PMID:28701861" "GARD:10213" "UMLS:C5680363" "Orphanet:572361" @@ -4589,13 +4589,13 @@ "MEDGEN:83395" "UMLS:C0345981" "PMID:28240269" - "PMID:30659259" "MESH:C536231" "Orphanet:217607" "GARD:20525" "OMIMPS:115200" "UMLS:C0340427" "MEDGEN:90951" + "PMID:30659259" "OMIM:609285" "NCIT:C164225" "MESH:C538351" @@ -4611,10 +4611,6 @@ "Orphanet:466768" "GARD:17829" "UMLS:C1866496" - "UMLS:C0686378" - "SCTID:275269004" - "MEDGEN:195785" - "NCIT:C8548" "ICD10:D01.4" "Orphanet:104075" "icd11.foundation:1369513329" @@ -4627,6 +4623,10 @@ "GARD:0013090" "EFO:1000532" "MONDO:0003198" + "UMLS:C0686378" + "SCTID:275269004" + "MEDGEN:195785" + "NCIT:C8548" "PMID:29875488" "MEDGEN:1666981" "GARD:17353" @@ -4685,6 +4685,7 @@ "MedDRA:10022698" "MeSH:D007418" "NCIt:C9154" + "PMID:37164013" "NCIT:C26922" "MESH:D017093" "UMLS:C0085605" @@ -4700,7 +4701,6 @@ "CAS:1637-71-4" "PDBeChem:CSU" "PMID:23430915" - "PMID:37164013" "DOID:12721" "icd11.foundation:2009123831" "NORD:1468" @@ -4930,10 +4930,10 @@ "MONDO:0004982" "MeSH:D010195" "DOID:4989" - "SCTID:75694006" "MEDGEN:14586" "NCIt:C3306" "MedDRA:10033645" + "SCTID:75694006" "MESH:D010195" "MedDRA:10050539" "MeSH:D063847" @@ -4983,10 +4983,10 @@ "ICD9:421.9" "ICD10:I38" "NCIT:C34582" + "PMID:23823483" "UMLS:C4020854" "UMLS:C0027746" "UMLS:C0524851" - "PMID:23823483" "RRID:CVCL_0297" "BTO:0002590" "HP:0003193" @@ -5209,8 +5209,8 @@ "MEDGEN:1647391" "Orphanet:59135" "OMIM:160500" - "PMID:35347128" "PMID:29875488" + "PMID:35347128" "MEDGEN:414541" "Orphanet:217023" "GARD:18556" @@ -5317,8 +5317,6 @@ "Orphanet:98638" "GARD:19524" "PMID:35347128" - "NCIt:C114130" - "ICD10:O73" "ICD9:621.8" "NCIT:C26907" "MEDGEN:22590" @@ -5327,6 +5325,8 @@ "MESH:D014591" "ICD9:621.9" "DOID:345" + "NCIt:C114130" + "ICD10:O73" "CLO:0009227" "RRID:CVCL_0594" "BTO:0005065" @@ -5718,11 +5718,11 @@ "CLO:0002022" "BTO:0001323" "RRID:CVCL_1091" + "NCIt:C67282" "UMLS:C1854568" "OMIM:605229" "MeSH:C537486" "ICD10:G11.4" - "NCIt:C67282" "MeSH:D002578" "DOID:8586" "ICD10:N87" @@ -6189,7 +6189,6 @@ "galen:AbdominalCavity" "EMAPA:36505" "PMID:23823483" - "UMLS:C1849538" "UMLS:C0024198" "MEDGEN:44213" "ICD10:A69.2" @@ -6205,6 +6204,7 @@ "MONDO:0019632" "Orphanet:91546" "MedDRA:10025169" + "UMLS:C1849538" "OMIM:613370" "MEDGEN:461967" "SCTID:609577006" @@ -7167,13 +7167,13 @@ "MEDGEN:1780329" "DOID:0070447" "OMIM:619425" + "PMID:28240269" "GARD:3884" "Orphanet:2593" "MEDGEN:98050" "DOID:0080089" "UMLS:C0410207" "OMIMPS:160565" - "PMID:28240269" "SNOMEDCT_US:268158009" "UMLS:C1167712" "SNOMEDCT_US:204118005" @@ -7253,12 +7253,6 @@ "TAO:0001356" "PMID:29875488" "PMID:34610981" - "UMLS:C0014170" - "MEDGEN:8619" - "NCIT:C3012" - "ICD9:239.5" - "SCTID:123844007" - "MESH:D016889" "NORD:2038" "GARD:5677" "ICD9:758.81" @@ -7268,6 +7262,12 @@ "UMLS:C2936741" "SCTID:403760006" "Orphanet:10" + "UMLS:C0014170" + "MEDGEN:8619" + "NCIT:C3012" + "ICD9:239.5" + "SCTID:123844007" + "MESH:D016889" "icd11.foundation:1144812971" "SCTID:397016004" "NCIT:C9235" @@ -7347,11 +7347,11 @@ "galen:Penis" "FMA:9707" "SCTID:265793009" + "UMLS:C0342690" + "ICD10:E72.4" "NCIT:C3302" "DOID:3450" "MESH:D010145" - "UMLS:C0342690" - "ICD10:E72.4" "MESH:D000782" "NCIT:C2873" "UMLS:C0002938" @@ -7596,8 +7596,8 @@ "MESH:D007668" "CALOHA:TS-0510" "Wikipedia:Kidney" - "GAID:423" "MAT:0000119" + "GAID:423" "AAO:0000250" "NCIt:C41009" "NCIT:C41009" @@ -7712,8 +7712,8 @@ "NCI Metathesaurus: C0037658" "MedDRA:10064140" "MeSH:D053421" - "PMID:29875488" "PMID:35888728" + "PMID:29875488" "MeSH:D046152" "OMIM:606764" "DOID:9253" @@ -7933,6 +7933,12 @@ "OMIM:307300" "GTR:AN0098649" "SCTID:122811000119101" + "UMLS:C1709666" + "UMLS:C2200138" + "NCIT:C45605" + "MONDO:0006387" + "EFO:1000495" + "MEDGEN:1789549" "MEDGEN:1773574" "OMIM:618970" "UMLS:C5436505" @@ -7943,12 +7949,6 @@ "MEDGEN:657805" "UMLS:C0574090" "SCTID:297238008" - "UMLS:C1709666" - "UMLS:C2200138" - "NCIT:C45605" - "MONDO:0006387" - "EFO:1000495" - "MEDGEN:1789549" "UMLS:C1332833" "NCIT:C6488" "MEDGEN:232021" @@ -8028,6 +8028,7 @@ "UMLS:C4304745" "MEDGEN:930414" "NIF_Subcellular:sao1784069613" + "NCIt:C9163" "FMA:55070" "NCIT:C73468" "MA:0000752" @@ -8044,7 +8045,6 @@ "OMIM:188050" "SNOMEDCT_US:111293003" "OMIM:188055" - "NCIt:C9163" "OMIM:139900" "MeSH:D007839" "MedDRA:10075305" @@ -8432,10 +8432,10 @@ "Orphanet:622014" "NCIT:C122414" "NANDO:2200902" + "PMID:31246245" "OMIM:614751" "OMIM:600794" "ICD10:G12.2" - "PMID:31246245" "MESH:D001715" "UMLS:C0796094" "UMLS:C2931643" @@ -8476,7 +8476,6 @@ "MeSH:D020819" "OMIM:215470" "ICD10:G11.8" - "PMID:24816252" "Orphanet:2180" "MESH:C536461" "OMIM:600991" @@ -8484,11 +8483,17 @@ "UMLS:C3551260" "MEDGEN:764174" "GARD:5518" + "PMID:24816252" "Fyler:4133" "UMLS:C4023528" "PMID:19386619" "FMA:24901" "FMA:83517" + "UMLS:C0019202" + "ICD10:E83.0" + "MeSH:D006527" + "MedDRA:10019819" + "OMIM:277900" "ICD10:E77.8" "OMIM:608540" "PMID:29875488" @@ -8500,11 +8505,6 @@ "MEDGEN:462244" "SCTID:764440006" "Orphanet:357001" - "UMLS:C0019202" - "ICD10:E83.0" - "MeSH:D006527" - "MedDRA:10019819" - "OMIM:277900" "BTO:0005773" "CLO:0009988" "RRID:CVCL_2956" @@ -8845,6 +8845,7 @@ "MedDRA:10062599" "NCIt:C127821" "MeSH:D001157" + "Orphanet:79379" "MESH:D017445" "DOID:9540" "MEDGEN:102473" @@ -8853,7 +8854,6 @@ "SCTID:11263005" "ICD9:709.1" "MedDRA:10062171" - "Orphanet:79379" "ICD10:Q20.1" "Gmelin:9298" "PMID:16623025" @@ -8942,11 +8942,11 @@ "GARD:5049" "Orphanet:102009" "NANDO:1201069" - "PMID:29875488" "ICD10:H50" "UMLS:C0038379" "SNOMEDCT_US:22066006" "SNOMEDCT_US:128602000" + "PMID:29875488" "PMID:28878392" "NANDO:1200835" "UMLS:C2752027" @@ -8957,8 +8957,8 @@ "MEDGEN:442873" "UMLS:C4025711" "SNOMEDCT:438736009" - "PMID:29875488" "PMID:37253714" + "PMID:29875488" "SNOMEDCT:307541003" "NCIt:C94773" "MeSH:D059411" @@ -9030,8 +9030,6 @@ "Wikipedia:Efferent_arteriole" "EMAPA:28233" "TAO:0002140" - "UMLS:C0268104" - "MedDRA:10061476" "SCTID:2707005" "icd11.foundation:141267925" "GARD:9767" @@ -9045,6 +9043,8 @@ "UMLS:C0520459" "MeSH:D020345" "NCIt:C84915" + "UMLS:C0268104" + "MedDRA:10061476" "TAO:0000200" "ZFA:0000200" "MIAA:0000162" @@ -9142,6 +9142,11 @@ "PMID:22451473" "KNApSAcK:C00001197" "PDBeChem:OAA" + "MEDGEN:374426" + "UMLS:C1840266" + "MESH:C564136" + "GARD:2984" + "OMIM:146830" "MEDGEN:208877" "UMLS:C0853105" "DOID:3449" @@ -9150,11 +9155,6 @@ "SCTID:372106005" "GARD:0009366" "MONDO:0006360" - "MEDGEN:374426" - "UMLS:C1840266" - "MESH:C564136" - "GARD:2984" - "OMIM:146830" "UMLS:C3806467" "UMLS:C5231404" "MEDGEN:1684774" @@ -9195,8 +9195,8 @@ "MESH:D015439" "UMLS:C0575897" "SNOMEDCT_US:299130003" - "MeSH:D013952" "NCIT:C126349" + "MeSH:D013952" "MESH:D014314" "NCIT:C3421" "MEDGEN:21702" @@ -9397,6 +9397,7 @@ "MEDGEN:233465" "MONDO:0006056" "EFO:1000053" + "PMID:35888728" "SCTID:719823007" "OMIM:192445" "Orphanet:3201" @@ -9404,7 +9405,6 @@ "MEDGEN:395493" "UMLS:C1860471" "MESH:C537497" - "PMID:35888728" "Fyler:4163" "UMLS:C0240295" "SNOMEDCT_US:32958008" @@ -9577,6 +9577,8 @@ "OMIM:276300" "MEDGEN:1748029" "PMID:35347128" + "SNOMEDCT_US:42393006" + "UMLS:C0268583" "OMIM:242600" "MESH:C536285" "ICD9:270.8" @@ -9586,8 +9588,6 @@ "UMLS:C0268654" "DOID:0112265" "GARD:8424" - "SNOMEDCT_US:42393006" - "UMLS:C0268583" "PMID:35347128" "ICD10:G23.0" "MEDGEN:79470" @@ -10391,11 +10391,11 @@ "MEDGEN:120654" "SCTID:42393006" "MESH:C537358" + "PMID:36168886" "UMLS:C5436509" "OMIM:618971" "GARD:18525" "MEDGEN:1724999" - "PMID:36168886" "MEDGEN:657804" "UMLS:C0574089" "SCTID:297237003" @@ -10449,17 +10449,17 @@ "MEDGEN:99176" "UMLS:C0473563" "NCIT:C35467" + "SCTID:92060009" + "NCIT:C4779" + "UMLS:C0496894" + "ICD9:224.0" + "MEDGEN:96927" "CL:0000082" "UMLS:C1334386" "DOID:6085" "SCTID:277530005" "NCIT:C5317" "MEDGEN:272793" - "SCTID:92060009" - "NCIT:C4779" - "UMLS:C0496894" - "ICD9:224.0" - "MEDGEN:96927" "MEDGEN:899184" "GARD:18249" "OMIM:616724" @@ -10862,6 +10862,7 @@ "ICD10:Q01.2" "ICD10:Q01.1" "ICD10:Q01.0" + "PMID:35347128" "Wikipedia:Pityriasis_rosea" "NCIT:C26855" "ICD10CM:L42" @@ -10874,7 +10875,6 @@ "DOID:8892" "ICD9:696.3" "MESH:D017515" - "PMID:35347128" "UMLS:C1568247" "NCIT:C126327" "NANDO:1200942" @@ -10885,11 +10885,6 @@ "ICD10CM:H35.5" "DOID:0110826" "ICD10:K76.8" - "UMLS:C1862840" - "OMIM:614149" - "OMIM:107000" - "MeSH:C536378" - "ICD10:Q84.3" "RRID:CVCL_Z232" "NCIt:C111071" "CLO:0008922" @@ -10909,6 +10904,11 @@ "NCIT:C84542" "MedDRA:10013976" "MESH:D000377" + "UMLS:C1862840" + "OMIM:614149" + "OMIM:107000" + "MeSH:C536378" + "ICD10:Q84.3" "PMID:34503513" "PMID:23443545" "UMLS:C0228411" @@ -11539,6 +11539,14 @@ "MEDGEN:6050" "MONDO:0005126" "SNOMEDCT:70143003" + "MeSH:D017243" + "ICD10:E88.42" + "DOID:310" + "ICD10:G71.3" + "NCIt:C84889" + "UMLS:C0162672" + "MedDRA:10069825" + "OMIM:545000" "MEDGEN:237042" "NCIT:C6336" "GARD:20473" @@ -11553,14 +11561,6 @@ "MeSH:D003286" "MedDRA:10061785" "SNOMEDCT:57048009" - "MeSH:D017243" - "ICD10:E88.42" - "DOID:310" - "ICD10:G71.3" - "NCIt:C84889" - "UMLS:C0162672" - "MedDRA:10069825" - "OMIM:545000" "DOID:6244" "UMLS:C0879606" "MEDGEN:209307" @@ -11580,15 +11580,15 @@ "PMID:28240269" "SNOMEDCT:38151008" "NCIt:C64840" - "PMID:3857588" - "CLO:0001137" - "RRID:CVCL_3040" "MEDGEN:82706" "SCTID:78572006" "UMLS:C0265316" "NANDO:2100220" "MESH:D020752" "NCIT:C84348" + "PMID:3857588" + "CLO:0001137" + "RRID:CVCL_3040" "UMLS:CN225947" "Orphanet:399805" "MONDO:0005663" @@ -12032,10 +12032,6 @@ "MEDGEN:767490" "KEGG COMPOUND:C00322" "HMDB:0000225" - "OMIM:618850" - "MEDGEN:1719306" - "UMLS:C5394277" - "DOID:0060950" "MONDO:0005665" "MEDGEN:87660" "UMLS:C0376175" @@ -12049,6 +12045,10 @@ "NCIT:C26769" "MedDRA:10016060" "ICD10CM:G51.0" + "OMIM:618850" + "MEDGEN:1719306" + "UMLS:C5394277" + "DOID:0060950" "SNOMEDCT_US:70992005" "UMLS:C0152252" "PMID:29875488" @@ -12115,6 +12115,8 @@ "MESH:D007414" "ICD10:C26.0" "PMID:29875488" + "Wikipedia:Thiamine_deficiency" + "ICD10:E51" "Drug_Central:92" "Wikipedia:Adenylic_acid" "KEGG:C00020" @@ -12142,8 +12144,6 @@ "PMID:16295522" "PMID:22624049" "PMID:12020809" - "Wikipedia:Thiamine_deficiency" - "ICD10:E51" "DOID:0060423" "UMLS:C3150790" "MEDGEN:462140" @@ -12658,10 +12658,6 @@ "Orphanet:140459" "PMID:25961010" "PMID:28240269" - "GARD:18532" - "OMIM:619076" - "MEDGEN:1755716" - "UMLS:C5436747" "MEDGEN:21791" "ICD10:N28" "MESH:D014570" @@ -12672,6 +12668,10 @@ "DOID:18" "ICD10:N39" "MONDO:0002118" + "GARD:18532" + "OMIM:619076" + "MEDGEN:1755716" + "UMLS:C5436747" "GARD:19242" "MEDGEN:1842836" "Orphanet:93950" @@ -12680,9 +12680,9 @@ "DOID:0081364" "UMLS:C4310693" "MEDGEN:934660" - "PMID:35347128" "UMLS:C1384606" "SNOMEDCT_US:71315007" + "PMID:35347128" "GARD:16556" "MEDGEN:320374" "UMLS:C1834523" @@ -12698,12 +12698,6 @@ "UMLS:C0270733" "MESH:D020955" "DOID:4751" - "Orphanet:435953" - "DOID:0111264" - "GARD:17722" - "UMLS:C4015461" - "MEDGEN:863898" - "OMIM:616200" "KEGG:C17690" "SNOMEDCT:57406009" "MEDGEN:2856" @@ -12724,6 +12718,12 @@ "MESH:D002349" "NCIt:C34450" "ICD10:S54" + "Orphanet:435953" + "DOID:0111264" + "GARD:17722" + "UMLS:C4015461" + "MEDGEN:863898" + "OMIM:616200" "CLO:0037142" "BTO:0002381" "RRID:CVCL_1416" @@ -12768,6 +12768,8 @@ "LIPID_MAPS_instance:LMST02020021" "Wikipedia:Dehydroepiandrosterone" "DrugBank:DB01708" + "GARD:21689" + "Orphanet:400003" "MEDGEN:6153" "SCTID:254836000" "SCTID:400178008" @@ -12780,8 +12782,6 @@ "MESH:D008202" "DOID:1475" "NCIT:C8965" - "GARD:21689" - "Orphanet:400003" "MEDGEN:1770258" "UMLS:C5436514" "OMIM:618972" @@ -13292,10 +13292,6 @@ "PMID:34503513" "OMIM:613985" "SCDO:0000251" - "UMLS:C0268248" - "Orphanet:99022" - "SCTID:73399005" - "MEDGEN:82781" "MESH:D014471" "CALOHA:TS-1082" "EHDAA:1034" @@ -13316,6 +13312,10 @@ "UMLS:C0553706" "UMLS:C0085681" "SNOMEDCT_US:20165001" + "UMLS:C0268248" + "Orphanet:99022" + "SCTID:73399005" + "MEDGEN:82781" "PMID:15198722" "LINCS:LSM-19988" "PMID:11165716" @@ -13411,7 +13411,6 @@ "DOID:0080797" "Orphanet:86879" "icd11.foundation:684005900" - "PMID:35347128" "NIST Chemistry WebBook:59729-33-8" "HMDB:HMDB0005038" "NCIt:C61680" @@ -13479,6 +13478,7 @@ "UMLS:C1291620" "NCIT:C131638" "Orphanet:714" + "PMID:35347128" "PMID:28240269" "Wikipedia:Wheat_streak_mosaic_virus" "OMIM:220200" @@ -13630,17 +13630,17 @@ "Orphanet:93457" "MEDGEN:1842256" "GARD:19210" - "UMLS:C1335999" - "EFO:1000536" - "NCIT:C27462" - "MEDGEN:236822" - "MONDO:0006419" "UMLS:C0342847" "Orphanet:309282" "GARD:17407" "MEDGEN:575250" "NANDO:2201188" "NANDO:1200127" + "UMLS:C1335999" + "EFO:1000536" + "NCIT:C27462" + "MEDGEN:236822" + "MONDO:0006419" "OMIM:620364" "UMLS:C5830484" "MEDGEN:1841120" @@ -14262,6 +14262,7 @@ "PMID:35347128" "UMLS:C2919341" "SNOMEDCT_US:445124008" + "PMID:36168886" "TAO:0002196" "EHDAA:3698" "EHDAA2:0001164" @@ -14270,7 +14271,6 @@ "EMAPA:16975" "DHBA:12325" "RETIRED_EHDAA2:0001106" - "PMID:36168886" "MEDGEN:233688" "DOID:6175" "NCIT:C6643" @@ -14358,8 +14358,8 @@ "OMIM:601631" "ICD10:Q13.8" "MedDRA:10058653" - "HMDB:0029239" "ZFA:0005029" + "HMDB:0029239" "SNOMEDCT:76608007" "SCTID:67254002" "MEDGEN:52357" @@ -14575,8 +14575,8 @@ "Orphanet:71274" "GARD:0012843" "EFO:1000220" - "UMLS:C0267785" "NCIT:C3958" + "UMLS:C0267785" "GARD:12843" "MEDGEN:78634" "MONDO:0006183" @@ -14644,12 +14644,12 @@ "MEDGEN:481912" "DOID:0070038" "OMIM:614254" + "UMLS:C4054549" + "NCIt:C123171" "PMID:25262759" "http://flybase.org/reports/FBtc0000151.html" "FBtc:FBtc0000151" "PMID:21177962" - "UMLS:C4054549" - "NCIt:C123171" "ICD9:302.89" "ICD9:302.9" "SCTID:56627002" @@ -14765,13 +14765,13 @@ "OMIM:620007" "UMLS:C5774199" "PMID:19273619" + "EFO:0003484" "VHOG:0000269" "EMAPA:16170" "ZFA:0000080" "EHDAA:667" "TAO:0000080" "EHDAA2:0002083" - "EFO:0003484" "NCIt:C14311" "GARD:16447" "OMIM:619351" @@ -14814,6 +14814,18 @@ "OMIM:607152" "MeSH:C536856" "ICD10:G11.4" + "MEDGEN:41766" + "ICD9:253.8" + "SNOMEDCT:237722004" + "SCTID:237722004" + "NCIT:C84686" + "MESH:D004652" + "UMLS:C0014008" + "DOID:3642" + "MONDO:0006740" + "NCIt:C84686" + "MeSH:D004652" + "MedDRA:10014567" "KNApSAcK:C00002285" "PMID:25303034" "PMID:11416615" @@ -14840,18 +14852,6 @@ "PMID:11853120" "PDBeChem:COC" "PMID:17551070" - "MEDGEN:41766" - "ICD9:253.8" - "SNOMEDCT:237722004" - "SCTID:237722004" - "NCIT:C84686" - "MESH:D004652" - "UMLS:C0014008" - "DOID:3642" - "MONDO:0006740" - "NCIt:C84686" - "MeSH:D004652" - "MedDRA:10014567" "UMLS:C1843285" "GARD:17384" "MESH:C564357" @@ -14878,6 +14878,7 @@ "UMLS:C0024591" "SNOMEDCT_US:405501007" "SNOMEDCT_US:213026003" + "PMID:33634981" "MESH:D015837" "ICD10:H81" "UMLS:C0042594" @@ -14904,7 +14905,6 @@ "EHDAA2:0003454" "FMA:73748" "EMAPA:35501" - "PMID:33634981" "Orphanet:289527" "MeSH:D014665" "SNOMEDCT:372787008" @@ -15191,8 +15191,8 @@ "MEDGEN:1794155" "MO:544" "MESH:C531698" - "SCTID:26249004" "MEDGEN:87591" + "SCTID:26249004" "UMLS:C0348287" "EMAPA:37597" "MA:0002449" @@ -15232,16 +15232,6 @@ "MEDGEN:11907" "DOID:1255" "MESH:D014252" - "MEDGEN:1788942" - "OMIM:301056" - "UMLS:C5542341" - "Orphanet:1657" - "SCTID:721090002" - "GARD:1814" - "OMIM:221810" - "MESH:C535373" - "UMLS:C1857301" - "MEDGEN:341742" "UMLS:C0035436" "MeSH:D012213" "SCTID:81077008" @@ -15262,6 +15252,16 @@ "MESH:D012213" "Orphanet:3099" "SCTID:58718002" + "MEDGEN:1788942" + "OMIM:301056" + "UMLS:C5542341" + "Orphanet:1657" + "SCTID:721090002" + "GARD:1814" + "OMIM:221810" + "MESH:C535373" + "UMLS:C1857301" + "MEDGEN:341742" "GARD:19914" "Orphanet:139423" "PMID:28240269" @@ -15341,9 +15341,6 @@ "PMID:25985088" "PMID:35995766" "PMID:28240269" - "SNOMEDCT_US:204912007" - "UMLS:C0431659" - "PMID:35347128" "OMIM:101900" "Wikipedia:Darier%27s_disease" "UMLS:C0022595" @@ -15353,6 +15350,9 @@ "OMIM:124200" "SNOMEDCT:48611009" "DOID:2734" + "SNOMEDCT_US:204912007" + "UMLS:C0431659" + "PMID:35347128" "MEDGEN:541287" "DOID:14759" "UMLS:C0268340" @@ -15939,6 +15939,7 @@ "UMLS:C0344644" "ICD10:Q20.1" "DOID:0050013" + "PMID:29875488" "SCTID:55133004" "NANDO:1200480" "DOID:0080991" @@ -15947,7 +15948,6 @@ "GARD:16536" "Orphanet:598" "MEDGEN:75731" - "PMID:29875488" "MEDGEN:232963" "NCIT:C7421" "DOID:2781" @@ -15991,7 +15991,6 @@ "RRID:CVCL_1361" "CLO:0007189" "PMID:29875488" - "PMID:35995766" "NCIT:C94408" "ICD9:704.8" "DOID:4409" @@ -16003,6 +16002,7 @@ "MedDRA:10016936" "MESH:D005499" "MONDO:0006552" + "PMID:35995766" "Wikipedia:Menopause" "UMLS:C4305579" "SCTID:717286002" @@ -16158,9 +16158,9 @@ "BTO:0000233" "NIFSTD:birnlex_1494" "NCIt:C12443" + "PMID:33067605" "OMIM:600461" "ICD10:D58.8" - "PMID:33067605" "PMID:37164013" "UMLS:C0033804" "MONDO:0005518" @@ -16287,6 +16287,7 @@ "UMLS:C0544008" "MedDRA:10057487" "ICD10:H21.1" + "HMDB:0029803" "ICD9:575.8" "UMLS:C0005416" "SCTID:197432008" @@ -16297,7 +16298,6 @@ "MeSH:D001657" "MedDRA:10056529" "MEDGEN:2627" - "HMDB:0029803" "PMID:35347128" "SCTID:75047002" "MedDRA:10028641" @@ -16406,14 +16406,14 @@ "UMLS:C4303540" "SCTID:717954003" "Orphanet:95709" - "NCIt:C12928" - "BTO:0000287" "MEDGEN:83137" "UMLS:C0334383" "MONDO:0006184" "ICDO:8522/2" "EFO:1000221" "NCIT:C4195" + "NCIt:C12928" + "BTO:0000287" "PMID:29875488" "OMIMPS:194070" "DOID:5183" @@ -16621,8 +16621,6 @@ "RRID:CVCL_4388" "GARD:21582" "Orphanet:369886" - "OMIM:609640" - "ICD10:Q93.5" "CiteXplore:1787170" "PMID:12952271" "CiteXplore:12387865" @@ -16667,18 +16665,20 @@ "MESH:C567086" "GARD:18356" "MEDGEN:435867" + "OMIM:609640" + "ICD10:Q93.5" "MeSH:D011247" "MedDRA:10036556" "SNOMEDCT:289908002" "NCIt:C25742" "ICD10:Z34" "PMID:35668104" + "RRID:CVCL_6898" + "BTO:0005758" "UMLS:C0272052" "OMIM:268150" "OMIM:617970" "ICD10:D58.8" - "RRID:CVCL_6898" - "BTO:0005758" "DOID:2926" "MeSH:D007715" "UMLS:C2931529" @@ -16696,10 +16696,10 @@ "OMIM:619175" "DOID:0060919" "UMLS:C5543027" - "PMID:35347128" "UMLS:C5436756" "OMIM:619080" "MEDGEN:1742639" + "PMID:35347128" "EV:0100027" "FMA:3734" "galen:Aorta" @@ -16771,11 +16771,11 @@ "CL:0000100" "PMID:29875488" "PMID:23241746" - "OMIM:303110" "UMLS:C0599035" "MeSH:C537132" "ICD10:E72.4" "OMIM:258870" + "OMIM:303110" "Orphanet:308621" "UMLS:C5679972" "NANDO:2201159" @@ -17346,17 +17346,12 @@ "MEDGEN:337494" "UMLS:C1846044" "SCTID:763311001" + "PMID:35347128" "SNOMEDCT:54000004" "NCIt:C74488" "FBbt:00005619" - "PMID:35347128" "ICD10:E72.8" "OMIM:300438" - "MeSH:D056889" - "MedDRA:10078537" - "OMIM:302060" - "UMLS:C0574083" - "ICD10:E71.1" "MONDO:0005995" "MEDGEN:11908" "SCTID:33710003" @@ -17368,6 +17363,11 @@ "ICD10CM:B81.2" "MeSH:D017684" "SNOMEDCT:81789001" + "MeSH:D056889" + "MedDRA:10078537" + "OMIM:302060" + "UMLS:C0574083" + "ICD10:E71.1" "SCTID:699256006" "ICD9:759.89" "SNOMEDCT:276351002" @@ -17439,9 +17439,9 @@ "UMLS:C4225172" "UMLS:C0265328" "OMIM:203600" + "PMID:23823483" "UMLS:C0200695" "NCIt:C92262" - "PMID:23823483" "BTO:0002555" "UBERON:0000939" "SNOMEDCT:3352000" @@ -17569,6 +17569,8 @@ "OMIM:619573" "UMLS:C5562070" "MEDGEN:1794280" + "PMID:29875488" + "PMID:35347128" "SCTID:58795000" "NCIT:C84675" "UMLS:C0751336" @@ -17579,8 +17581,6 @@ "DOID:11720" "MEDGEN:155541" "Orphanet:599" - "PMID:29875488" - "PMID:35347128" "DOID:0050888" "UMLS:C5680525" "MEDGEN:1842178" @@ -18453,7 +18453,6 @@ "MEDGEN:75907" "DOID:6053" "NCIT:C7928" - "PMID:24816252" "UMLS:C1851943" "NANDO:1200515" "GARD:10138" @@ -18462,6 +18461,7 @@ "Orphanet:98805" "DOID:0090041" "OMIM:128101" + "PMID:24816252" "UMLS:C4025670" "GARD:9634" "SCTID:401138005" @@ -18823,14 +18823,14 @@ "BTO:0000645" "FMA:14548" "MAT:0000314" - "UMLS:C1863006" - "OMIM:104570" - "MeSH:C538245" - "ICD10:Q82.4" "GARD:1140" "Orphanet:98988" "UMLS:C1855179" "MEDGEN:340806" + "UMLS:C1863006" + "OMIM:104570" + "MeSH:C538245" + "ICD10:Q82.4" "SNOMEDCT:36209000" "NCIt:C112824" "SNOMEDCT:414662006" @@ -19447,22 +19447,22 @@ "MONDO:0000266" "MeSH:D055732" "PMID:29875488" + "OMIM:271250" + "ICD10:G11.1" "GARD:9350" "MEDGEN:75829" "NCIT:C3997" "UMLS:C0278510" "NANDO:2200090" "DOID:3869" - "OMIM:271250" - "ICD10:G11.1" "PMID:34503513" + "PMID:27036078" "PMID:25326703" "RRID:CVCL_2195" "MEDGEN:1717569" "OMIM:618823" "DOID:0081344" "UMLS:C5394193" - "PMID:27036078" "UMLS:C4024989" "HP:0006716" "BTO:0004793" @@ -20049,10 +20049,10 @@ "UMLS:C5680771" "Orphanet:2076" "GARD:16584" - "PMID:29875488" "UMLS:C2749936" "OMIM:611225" "ICD10:G11.4" + "PMID:29875488" "UMLS:C5680067" "Orphanet:447896" "GARD:17774" @@ -20121,7 +20121,6 @@ "ICDO:8201/2" "UMLS:C1334248" "NCIT:C5138" - "ICD10:Q69.2" "UMLS:C0279698" "MEDGEN:76017" "NCIT:C3871" @@ -20129,6 +20128,7 @@ "EFO:1000058" "NCIT:C167265" "MESH:C538339" + "ICD10:Q69.2" "ICD9:348.2" "MEDGEN:18732" "MedDRA:10037149" @@ -20512,6 +20512,14 @@ "ICDO:9562/0" "MONDO:0006317" "EFO:1000394" + "EFO:1000223" + "UMLS:C0278804" + "MEDGEN:82985" + "ONCOTREE:DA" + "NCIT:C7889" + "DOID:10816" + "MONDO:0006186" + "SCTID:408644002" "DOID:0110779" "MEDGEN:332174" "Orphanet:101008" @@ -20523,14 +20531,6 @@ "PMID:26415143" "NIFSTD:birnlex_982" "BTO:0002434" - "EFO:1000223" - "UMLS:C0278804" - "MEDGEN:82985" - "ONCOTREE:DA" - "NCIT:C7889" - "DOID:10816" - "MONDO:0006186" - "SCTID:408644002" "MeSH:D056104" "MeSH:D001724" "NCIt:C76325" @@ -20982,10 +20982,10 @@ "ICD9:239.89" "UMLS:C0039981" "SCTID:255058005" - "PMID:29875488" "OMIM:268800" "ICD10:E75.0" "UMLS:C0751491" + "PMID:29875488" "Orphanet:98562" "icd11.foundation:740223582" "SCTID:400951005" @@ -21276,9 +21276,9 @@ "Reaxys:9894883" "KEGG COMPOUND:108212-75-5" "PMID:15099529" - "PMID:12606118" "CiteXplore:2753814" "MeSH:C055955" + "PMID:12606118" "CAS:108212-75-5" "CiteXplore:1584797" "PMID:2753814" @@ -21774,15 +21774,15 @@ "MEDGEN:335822" "OMIM:607864" "PMID:28240269" + "Orphanet:222628" + "GARD:20545" + "UMLS:C5680891" + "MEDGEN:1842934" "OMIM:129400" "MeSH:C535289" "UMLS:C1785148" "OMIM:106260" "ICD10:Q82.4" - "Orphanet:222628" - "GARD:20545" - "UMLS:C5680891" - "MEDGEN:1842934" "UMLS:C0154701" "DOID:862" "ICD9:344.2" @@ -22166,13 +22166,13 @@ "DOID:117" "NCIT:C3548" "MESH:D006338" - "PMID:29875488" "MESH:D012874" "UMLS:C0156279" "ICD9:597.81" "MEDGEN:510225" "DOID:13498" "SCTID:31273004" + "PMID:29875488" "Wikipedia:Syncytiotrophoblast" "FMA:83040" "NCIT:C33918" @@ -22304,9 +22304,9 @@ "ICD10:D56.1" "MedDRA:10043391" "DOID:12241" + "PMID:28240269" "OMIM:620728" "DOID:0060943" - "PMID:28240269" "UMLS:C4023340" "CAS:1118-68-9" "Gmelin:82215" @@ -22450,12 +22450,8 @@ "SCTID:715491000" "NCIT:C148317" "Orphanet:2822" - "NCIt:C85050" "PMID:29093273" - "Orphanet:369979" - "MEDGEN:1673147" - "UMLS:C5190599" - "GARD:21584" + "NCIt:C85050" "PMID:11700066" "PDBeChem:SAH" "PMID:11997462" @@ -22494,6 +22490,10 @@ "PMID:16423634" "PMID:15057524" "MetaCyc:ADENOSYL-HOMO-CYS" + "Orphanet:369979" + "MEDGEN:1673147" + "UMLS:C5190599" + "GARD:21584" "UMLS:C5190803" "MEDGEN:1681191" "Orphanet:284271" @@ -22855,14 +22855,14 @@ "UMLS:C5543038" "MEDGEN:1782465" "OMIM:619178" - "MEDGEN:1794248" - "OMIM:619651" - "UMLS:C5562038" "MedDRA:10008909" "MedDRA:10008915" "UMLS:C0019189" "NCIt:C82978" "SNOMEDCT:76783007" + "MEDGEN:1794248" + "OMIM:619651" + "UMLS:C5562038" "KEGG:C06894" "PMID:11322179" "PMID:19069618" @@ -23949,6 +23949,7 @@ "HP:0012397" "OMIM:256040" "ZFA:0000284" + "PMID:35347128" "ICD10CM:H52.0" "MESH:D006956" "ICD9:367.0" @@ -23956,7 +23957,6 @@ "MEDGEN:43780" "SCTID:38101003" "UMLS:C0020490" - "PMID:35347128" "PMID:26068415" "OMIMPS:105400" "OMIM:615426" @@ -23984,8 +23984,8 @@ "MEDGEN:815853" "OMIM:615439" "DOID:0110025" - "PMID:35347128" "UMLS:C4021601" + "PMID:35347128" "ICDO:8244/3" "NCIT:C4139" "MEDGEN:83124" @@ -24156,6 +24156,11 @@ "SNOMEDCT:214001" "MeSH:D013295" "PMID:31015401" + "UMLS:C1336750" + "MEDGEN:237009" + "DOID:8162" + "NCIT:C6042" + "ONCOTREE:OAT" "MedDRA:10029228" "MESH:D009437" "MONDO:0021667" @@ -24166,11 +24171,6 @@ "NCIt:C79695" "SCTID:16269008" "MEDGEN:18010" - "UMLS:C1336750" - "MEDGEN:237009" - "DOID:8162" - "NCIT:C6042" - "ONCOTREE:OAT" "MEDGEN:1648360" "OMIM:618272" "UMLS:C4748924" @@ -24283,6 +24283,7 @@ "ICD10CM:P00-P96" "UMLS:C0270075" "https://www.who.int/maternal_child_adolescent/topics/maternal/maternal_perinatal/en/" + "PMID:24816252" "HP:0005263" "MONDO:0004966" "MEDGEN:4843" @@ -24318,7 +24319,6 @@ "MAT:0000402" "XAO:1000010" "NCIt:C35287" - "PMID:24816252" "Orphanet:309331" "NANDO:2201238" "GARD:10871" @@ -24576,16 +24576,16 @@ "UMLS:C1333747" "DOID:10201" "FBbt:00005501" - "UMLS:C0338070" - "GARD:9302" - "MEDGEN:137828" - "DOID:7007" - "NCIT:C4347" "GARD:20479" "MEDGEN:1633992" "Orphanet:213716" "UMLS:C4707099" "ICD10CM:C50" + "UMLS:C0338070" + "GARD:9302" + "MEDGEN:137828" + "DOID:7007" + "NCIT:C4347" "PMID:23823483" "SNOMEDCT:414581006" "MedDRA:10059494" @@ -24630,11 +24630,11 @@ "GARD:3514" "PMID:35995766" "NCIt:C16149" + "ZFS:0000020" "MEDGEN:1648365" "UMLS:C4749028" "DOID:0111853" "OMIM:618300" - "ZFS:0000020" "SCTID:361097006" "MESH:D001808" "NCIT:C12679" @@ -25097,9 +25097,9 @@ "GARD:1687" "Orphanet:3220" "SCTID:721085000" - "PMID:18516045" "PMID:11807979" "RRID:CVCL_8800" + "PMID:18516045" "GARD:16977" "SCTID:237891005" "DOID:0050947" @@ -25435,12 +25435,12 @@ "ICD9:290.8" "HP:0000726" "PMID:35347128" - "PMID:34610981" "MeSH:C535941" "OMIM:302950" "ICD10:Q77.3" "OMIM:602497" "UMLS:C1844853" + "PMID:34610981" "SNOMEDCT:251692002" "MEDGEN:332390" "Orphanet:168577" @@ -25533,7 +25533,6 @@ "OMIM:231100" "UMLS:C1963788" "MEDGEN:1843468" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM19043&Product=CC" "KEGG:D08098" "CAS:6740-88-1" "Drug_Central:1523" @@ -25555,6 +25554,7 @@ "DOID:0050697" "https://en.wikipedia.org/wiki/Chorioamnionitis" "MONDO:0000409" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM19043&Product=CC" "Orphanet:309028" "icd11.foundation:1858691234" "GARD:21316" @@ -25567,13 +25567,13 @@ "ICD9:371.56" "Orphanet:101068" "MEDGEN:400601" + "Orphanet:519302" "Orphanet:2549" "MEDGEN:67392" "GARD:3653" "SCTID:726722009" "UMLS:C0220681" "OMIM:141400" - "Orphanet:519302" "UMLS:C5193057" "GARD:18018" "MEDGEN:1684142" @@ -25896,8 +25896,6 @@ "Orphanet:178389" "MESH:C567354" "PMID:29875488" - "RRID:CVCL_D7E6" - "PMID:22325559" "MEDGEN:482832" "GARD:16462" "DOID:0070043" @@ -25913,6 +25911,8 @@ "MESH:C538380" "SCTID:30287008" "NCIT:C129029" + "RRID:CVCL_D7E6" + "PMID:22325559" "DOID:14555" "MONDO:0001998" "MedDRA:10017065" @@ -26099,13 +26099,13 @@ "MedDRA:10038084" "MeSH:D020047" "SNOMEDCT:447072005" - "NCIT:C156787" "MEDGEN:97992" "Orphanet:100031" "SCTID:109476006" "UMLS:C0399367" "GARD:645" "ICD9:520.5" + "NCIT:C156787" "GARD:17273" "Orphanet:275872" "MESH:C566288" @@ -26214,6 +26214,7 @@ "PMID:23823483" "NCIt:C92949" "ICD10:Z32" + "ICD10:G12.8" "UMLS:C2931695" "ICD10:Q93.5" "SCTID:84706005" @@ -26224,7 +26225,6 @@ "MeSH:D007815" "MONDO:0005871" "MESH:D007815" - "ICD10:G12.8" "PMID:29324852" "UMLS:C1290627" "ICD9:521.06" @@ -26720,8 +26720,8 @@ "UMLS:C0935624" "MA:0000065" "BTO:0002045" - "FMA:63194" "NCIT:C12685" + "FMA:63194" "MESH:D002196" "AAO:0010252" "XAO:0000116" @@ -27035,20 +27035,19 @@ "Chemspider:65998789" "GARD:20064" "Orphanet:165707" + "OMIM:605714" + "ICD10:I68.0*" + "ICD10:E85.4+" "OMIM:304110" "MeSH:C536456" "UMLS:C0220767" "ICD10:Q87.1" "PMID:31530798" - "OMIM:605714" - "ICD10:I68.0*" - "ICD10:E85.4+" "UMLS:C1849811" "OMIM:261990" "MeSH:C537398" "PMID:28240269" "PMID:23823483" - "MeSH:D016665" "UMLS:C3272957" "NCIt:C96679" "MESH:D005258" @@ -27065,9 +27064,21 @@ "GARD:8234" "NORD:1135" "SCTID:57160007" + "MeSH:D016665" "MEDGEN:1781649" "OMIM:619229" "UMLS:C5543202" + "NANDO:2201294" + "NANDO:1200149" + "SCTID:87074006" + "MedDRA:10067531" + "UMLS:C1096903" + "MEDGEN:203368" + "GARD:4754" + "Orphanet:309334" + "OMIM:604369" + "NANDO:1200582" + "NCIT:C85067" "NANDO:2200469" "Orphanet:28378" "GARD:3105" @@ -27102,17 +27113,6 @@ "NCIt:C32452" "SAEL:51" "NIFSTD:birnlex_1178" - "NANDO:2201294" - "NANDO:1200149" - "SCTID:87074006" - "MedDRA:10067531" - "UMLS:C1096903" - "MEDGEN:203368" - "GARD:4754" - "Orphanet:309334" - "OMIM:604369" - "NANDO:1200582" - "NCIT:C85067" "icd11.foundation:429190257" "MESH:D014188" "GARD:7795" @@ -27563,11 +27563,11 @@ "ICD10CM:D15.0" "UMLS:C1266091" "Orphanet:263310" - "HMDB:HMDB0010402" "OMIM:224120" "OMIM:615631" "UMLS:C0271933" "ICD10:D64.4" + "HMDB:HMDB0010402" "Wikipedia:Germplasm" "NCIt:C313" "MeSH:D001761" @@ -29320,9 +29320,9 @@ "SNOMEDCT:271062006" "OMIM:606593" "ICD10:D81.1" - "PMID:28240269" "PO:0025022" "SNOMEDCT:12170000" + "PMID:28240269" "MEDGEN:231071" "NCIT:C5376" "DOID:4510" @@ -29508,11 +29508,11 @@ "DOID:0090121" "NANDO:2100130" "NCIT:C131083" + "ICD10:Q87.8" "MO:834" "BTO:0000725" "ZFA:0009354" "CALOHA:TS-0448" - "ICD10:Q87.8" "OMIM:618226" "MEDGEN:1648292" "UMLS:C4748754" @@ -29966,11 +29966,11 @@ "LIPID_MAPS_instance:LMSP07000001" "Reaxys:52571" "PMID:21259322" - "PMID:29875488" "GARD:18921" "Orphanet:73230" "MEDGEN:928495" "UMLS:C4302826" + "PMID:29875488" "SNOMEDCT:258720002" "NCIt:C48517" "MO:743" @@ -30095,12 +30095,12 @@ "OMIM:609128" "ICD10:Q68.8" "PMID:30659259" - "PMID:28240269" "NCIT:C4055" "UMLS:C0281784" "MEDGEN:129095" "SCTID:724171006" "DOID:4587" + "PMID:28240269" "NCIT:C32205" "EMAPA:35897" "FMA:15928" @@ -30425,13 +30425,13 @@ "NCIT:C34403" "HP:0002634" "SCTID:72092001" - "FBdv:00005334" "GARD:19301" "SCTID:764629008" "MEDGEN:419849" "MESH:C537762" "Orphanet:96060" "UMLS:C2931603" + "FBdv:00005334" "NCIT:C8985" "NCIT:C8987" "DOID:5482" @@ -30588,9 +30588,9 @@ "Gmelin:917" "PMID:3712373" "Reaxys:1098352" + "MAT:0000002" "OMIM:601419" "ICD10:G71.8" - "MAT:0000002" "UMLS:C1858712" "OMIM:604187" "MeSH:C537482" @@ -30615,12 +30615,6 @@ "DOID:8717" "MedDRA:10011985" "ICD10:L89" - "ICD10:D51.9" - "ICD10:D51.8" - "ICD10:D51.3" - "ICD10:D51.2" - "ICD10:D51.1" - "ICD10:D51.0" "SCTID:763797003" "UMLS:C0796124" "GARD:4528" @@ -30634,6 +30628,12 @@ "UMLS:C2931722" "Orphanet:2235" "GARD:1234" + "ICD10:D51.9" + "ICD10:D51.8" + "ICD10:D51.3" + "ICD10:D51.2" + "ICD10:D51.1" + "ICD10:D51.0" "MEDGEN:129219" "icd11.foundation:792755706" "NCIT:C36171" @@ -30808,15 +30808,15 @@ "MEDGEN:376521" "Orphanet:100986" "HMDB:0041785" - "MEDGEN:1842770" - "Orphanet:1132" - "GARD:741" - "UMLS:C5680872" "NCIt:C29484" "PMID:815725" "MeSH:D010289" "MedDRA:10044107" "SNOMEDCT:225372007" + "MEDGEN:1842770" + "Orphanet:1132" + "GARD:741" + "UMLS:C5680872" "SCTID:47841006" "NCIT:C34837" "MEDGEN:6527" @@ -31106,15 +31106,15 @@ "OMIM:612934" "ICD10:E74.0" "PMID:29875488" - "UMLS:C5394674" - "Orphanet:329173" - "GARD:17494" - "MEDGEN:1720168" "UMLS:C0175692" "MeSH:C535880" "MedDRA:10074947" "OMIM:243800" "ICD10:Q87.8" + "UMLS:C5394674" + "Orphanet:329173" + "GARD:17494" + "MEDGEN:1720168" "PMID:29875488" "DOID:5624" "MEDGEN:163666" @@ -31256,11 +31256,11 @@ "SCTID:715421009" "MO:885" "SNOMEDCT:69440003" - "PMID:24816252" "OMIM:216400" "UMLS:C0751039" "OMIM:133540" "ICD10:Q87.8" + "PMID:24816252" "AAO:0000268" "MAT:0000187" "SAEL:59" @@ -31535,13 +31535,13 @@ "MEDGEN:333474" "UMLS:C1840061" "PMID:26068415" - "MedDRA:10074712" "NANDO:2200284" "Orphanet:1456" "GARD:18723" "MEDGEN:758831" "SCTID:471268000" "UMLS:C3496579" + "MedDRA:10074712" "Wikipedia:Innate_immune_system" "DECIPHER:7" "NANDO:2200955" @@ -31573,14 +31573,12 @@ "MEDGEN:728086" "MONDO:0000536" "DOID:0050921" + "OMIM:300886" "ZFA:0009017" "NCIt:C13014" "CALOHA:TS-1195" "SNOMEDCT:53945006" "FMA:83553" - "OMIM:300886" - "PMID:28240269" - "http://orcid.org/0000-0001-9043-693X" "ICD9:774.4" "MEDGEN:510683" "MONDO:0006595" @@ -31588,6 +31586,8 @@ "SCTID:10877007" "DOID:11452" "MedDRA:10034513" + "PMID:28240269" + "http://orcid.org/0000-0001-9043-693X" "GARD:17724" "Orphanet:436151" "UMLS:C5543206" @@ -31820,6 +31820,7 @@ "MedDRA:10034354" "SNOMEDCT:88169003" "MONDO:0004260" + "PMID:35995766" "SNOMEDCT:58756001" "ICD9:333.4" "MeSH:D006816" @@ -31829,7 +31830,6 @@ "CLO:0008074" "BTO:0005293" "RRID:CVCL_1550" - "PMID:35995766" "RRID:CVCL_7044" "GARD:4947" "OMIM:271225" @@ -31891,7 +31891,6 @@ "MONDO:0006536" "MedDRA:10053432" "NORD:998" - "PMID:35347128" "PMID:28240269" "PMID:1146729" "PMID:31957471" @@ -31957,6 +31956,7 @@ "FooDB:FDB002431" "HMDB:HMDB0001492" "PMID:11811542" + "PMID:35347128" "DOID:0050722" "MESH:C566618" "MEDGEN:400935" @@ -32486,22 +32486,22 @@ "MONDO:0006566" "DOID:161" "PMID:29875488" - "PMID:32641083" "UMLS:C2698870" "NCIt:C74619" + "PMID:32641083" "MEDGEN:1781858" "Orphanet:439849" "NCIT:C176624" "UMLS:C5447331" "GARD:21834" - "SNOMEDCT:114163003" - "NCIt:C86657" - "MeSH:D016966" "SCTID:267619000" "GARD:21260" "Orphanet:306648" "MEDGEN:573080" "UMLS:C0339317" + "SNOMEDCT:114163003" + "NCIt:C86657" + "MeSH:D016966" "MEDGEN:1785588" "OMIM:619226" "UMLS:C5543184" @@ -32838,9 +32838,8 @@ "UMLS:C4318747" "MEDGEN:1389203" "NCIT:C131526" - "PMID:28240269" "Orphanet:261559" - "Orphanet:573163" + "PMID:28240269" "OMIM:606056" "SCTID:725028009" "MEDGEN:342954" @@ -32849,6 +32848,7 @@ "UMLS:C1853736" "Orphanet:79330" "GARD:10767" + "Orphanet:573163" "NCIt:C121630" "Orphanet:1416" "UMLS:C0856830" @@ -33365,7 +33365,6 @@ "GARD:12174" "UMLS:C0431697" "ICD10:Q61.4" - "PMID:29875488" "PMID:29875488" "MedDRA:10029155" "MedDRA:10067571" @@ -33375,6 +33374,7 @@ "DOID:6082" "MEDGEN:208758" "UMLS:C0796663" + "PMID:29875488" "DOID:397" "SNOMEDCT:415295002" "NCIt:C62798" @@ -33422,6 +33422,12 @@ "SCTID:32236000" "UMLS:C0239737" "ICD9:528.6" + "MESH:C565735" + "ICD10:D22.5" + "UMLS:C1858042" + "GARD:0003856" + "OMIM:604919" + "Orphanet:64755" "Orphanet:295081" "PMID:28240269" "UMLS:C0023518" @@ -33429,12 +33435,6 @@ "MeSH:D002522" "SNOMEDCT:389180005" "NCIt:C76360" - "MESH:C565735" - "ICD10:D22.5" - "UMLS:C1858042" - "GARD:0003856" - "OMIM:604919" - "Orphanet:64755" "UMLS:C0029878" "SCTID:3135009" "NCIT:C3299" @@ -33450,11 +33450,11 @@ "ICD10:H60" "ICD9:380.10" "DOID:9463" + "GARD:17728" + "Orphanet:436182" "OMIM:619950" "MEDGEN:1824083" "UMLS:C5774310" - "GARD:17728" - "Orphanet:436182" "MEDGEN:419090" "UMLS:C2931483" "Orphanet:2890" @@ -34015,12 +34015,12 @@ "DOID:0050772" "MEDGEN:409988" "ICD10CM:G11.4" + "PMID:33634981" " CLO:0051612" " CLO:0007905" "BTO:0005493" "CLO:0007904" "RRID:CVCL_0593" - "PMID:33634981" "Orphanet:293199" "ICD9:171.9" "ONCOTREE:PLRMS" @@ -34095,12 +34095,12 @@ "MTH:217" "DOID:6543" "NCIT:C27195" + "OMIM:269860" + "ICD10:Q77.2" "SNOMEDCT:73427004" "KEGG:C02530" "MeSH:D002788" "PMID:2474544" - "OMIM:269860" - "ICD10:Q77.2" "Orphanet:440731" "OMIM:615604" "GARD:17748" @@ -34260,6 +34260,13 @@ "UMLS:C0520739" "SNOMEDCT_US:9434008" "RRID:CVCL_2610" + "MeSH:D053632" + "OMIM:312863" + "MONDO:0010730" + "SNOMEDCT:203592006" + "NCIt:C4682" + "DOID:60013" + "MedDRA:10083916" "NCIT:C61420" "MEDGEN:9075" "MESH:D006059" @@ -34268,13 +34275,6 @@ "ICD9:758.6" "DOID:14447" "SCTID:205681004" - "MeSH:D053632" - "OMIM:312863" - "MONDO:0010730" - "SNOMEDCT:203592006" - "NCIt:C4682" - "DOID:60013" - "MedDRA:10083916" "PMID:26068415" "PMID:24816252" "PMID:19161266" @@ -34493,13 +34493,13 @@ "OMIM:608670" "MEDGEN:325196" "MESH:C563880" + "OMIM:141350" + "ICD10:Q67.4" "MedDRA:10070179" "ICD10:N04.1" "UMLS:C0950121" "OMIM:194080" "MeSH:D030321" - "OMIM:141350" - "ICD10:Q67.4" "OMIM:176200" "ICD10:E80.2" "SCTID:724170007" @@ -34737,12 +34737,12 @@ "ICD10:Q87.3" "UMLS:CN201470" "Orphanet:231117" - "UMLS:C1836653" "OMIM:614498" "MONDO:0013784" "PMID:28752061" "ICD10:G40.4" "Orphanet:435845" + "UMLS:C1836653" "MEDGEN:1842309" "Orphanet:98455" "icd11.foundation:237567451" @@ -34762,7 +34762,6 @@ "UMLS:C0270204" "Reaxys:5389720" "HMDB:HMDB0029068" - "PMID:29875488" "SNOMEDCT:314067002" "ICD10CM:K86.81" "NCIT:C84316" @@ -34773,6 +34772,7 @@ "DOID:13316" "UMLS:C0267963" "Wikipedia:Memory" + "PMID:29875488" "OMIM:308830" "GARD:3099" "MESH:C536158" @@ -34798,8 +34798,8 @@ "Orphanet:58220" "MedDRA:10056979" "UMLS:C0400821" - "SNOMEDCT:235753003" "SCTID:235753003" + "SNOMEDCT:235753003" "MONDO:0000702" "NCIT:C38504" "DOID:0060182" @@ -35191,13 +35191,13 @@ "SAEL:118" "MAT:0000292" "EV:0100114" + "OMIM:102800" + "ICD10:D55.3" "SCTID:37042000" "MEDGEN:91004" "ICD9:696.1" "UMLS:C0343052" "ICD10CM:L40.4" - "OMIM:102800" - "ICD10:D55.3" "MESH:D016472" "MEDGEN:102314" "UMLS:C0154681" @@ -35292,12 +35292,12 @@ "Orphanet:643538" "OMIM:616863" "PMID:29875488" - "ICD10:Q10.3" "Orphanet:238666" "ICD10CM:E23.0" "UMLS:C5679849" "MEDGEN:1842176" "GARD:20643" + "ICD10:Q10.3" "NCIt:C117213" "CLO:0001654" "RRID:CVCL_1067" @@ -35548,12 +35548,6 @@ "MONDO:0005990" "SCTID:62994001" "ICD10CM:J04.1" - "NCIT:C6933" - "MEDGEN:124403" - "ICD10CM:H74.4" - "UMLS:C0271466" - "DOID:7439" - "SCTID:73103007" "NANDO:2200860" "NORD:1169" "MEDGEN:140820" @@ -35565,6 +35559,12 @@ "DOID:0050559" "NCIT:C126741" "UMLS:C0410174" + "NCIT:C6933" + "MEDGEN:124403" + "ICD10CM:H74.4" + "UMLS:C0271466" + "DOID:7439" + "SCTID:73103007" "MEDGEN:232222" "UMLS:C1333742" "NCIT:C5840" @@ -35717,9 +35717,9 @@ "BTO:0004137" "PMID:24816252" "PMID:29875488" + "PMID:29875488" "SNOMEDCT_US:77103006" "UMLS:C0152457" - "PMID:29875488" "UMLS:C0431698" "ICD10:Q61.4" "DOID:4661" @@ -36331,10 +36331,6 @@ "DOID:2992" "ONCOTREE:PRNE" "UMLS:C1335515" - "UMLS:C5681265" - "Orphanet:471383" - "GARD:21947" - "MEDGEN:1843298" "KEGG COMPOUND:69-72-7" "PMID:11016405" "KNApSAcK:C00000206" @@ -36378,6 +36374,10 @@ "ICD9:571.8" "UMLS:C1275088" "GARD:1993" + "UMLS:C5681265" + "Orphanet:471383" + "GARD:21947" + "MEDGEN:1843298" "MEDGEN:57579" "NCIT:C3623" "ICD9:224.4" @@ -36593,11 +36593,11 @@ "Orphanet:261579" "OMIM:274150" "ICD10:M31.3" + "PMID:28240269" + "PMID:34436474" "OMIM:256600" "ICD10:G23.0" "OMIM:610217" - "PMID:28240269" - "PMID:34436474" "PubChem:322640" "CAS:1074-79-9" "NCIT:C6618" @@ -36659,6 +36659,7 @@ "DOID:62" "OMIM:218550" "ICD10:Q87.2" + "PMID:26068415" "Orphanet:482" "GARD:6835" "MESH:D000796" @@ -36670,9 +36671,7 @@ "DOID:7365" "MedDRA:10048640" "MONDO:0018830" - "PMID:26068415" "PMID:35668104" - "PMID:28240269" "CAS:54192-66-4" "LINCS:LSM-6449" "PMID:10680067" @@ -36690,6 +36689,7 @@ "OMIM:609423" "NCIt:C14220" "MedDRA:10068341" + "PMID:28240269" "MedDRA:10063361" "ICD9:759.89" "SCTID:28557005" @@ -36960,11 +36960,11 @@ "OMIM:615513" "OMIM:616005" "ZFS:0000006" - "HMDB:0041919" "DOID:4091" "MeSH:D017250" "MONDO:0005687" "MESH:D017250" + "HMDB:0041919" "GARD:15881" "DOID:0081274" "MEDGEN:766969" @@ -37032,8 +37032,8 @@ "ICD10:G23" "DOID:679" "MESH:D001480" - "ICD9:333.0" "MONDO:0003996" + "ICD9:333.0" "MEDGEN:1619147" "MeSH:D001480" "ICD10:E71.3" @@ -37543,14 +37543,14 @@ "DOID:11101" "MeSH:D014205" "PMID:24816252" + "Wikipedia:Endothelial_dysfunction" + "MedDRA:10048554" "OMIM:613122" "MESH:C567733" "GARD:15621" "UMLS:C2751084" "DOID:0110424" "MEDGEN:413929" - "Wikipedia:Endothelial_dysfunction" - "MedDRA:10048554" "UMLS:C1336748" "MEDGEN:277819" "DOID:4514" @@ -37830,9 +37830,9 @@ "BTO:0001699" "GAID:1205" "Wikipedia:Bursa_of_Fabricius" + "PMID:35050183" "GARD:19928" "Orphanet:140474" - "PMID:35050183" "PMID:34814699" "SCTID:403762003" "OMIM:257980" @@ -37981,14 +37981,14 @@ "MeSH:C535785" "OMIM:620775" "SNOMEDCT:432359005" + "OMIM:124000" + "ICD10:E88.8" "ICD10CM:B85-B89" "DOID:4110" "UMLS:C0013578" "MEDGEN:3964" "MESH:D004478" "PMID:8324220" - "OMIM:124000" - "ICD10:E88.8" "MEDGEN:785975" "DOID:0050810" "UMLS:C3714396" @@ -37999,10 +37999,10 @@ "MEDGEN:895780" "OMIM:616871" "Orphanet:488647" - "PMID:37164013" "ICD10:Q87.8" "UMLS:C1859384" "OMIM:211380" + "PMID:37164013" "SNOMEDCT:290006" "ICD10:Q87.8" "UMLS:C0265234" @@ -38014,6 +38014,7 @@ "SNOMEDCT:205806009" "DOID:14702" "KEGG COMPOUND:C13540" + "PMID:35347128" "GARD:5878" "MeSH:D001404" "MESH:D001404" @@ -38029,7 +38030,6 @@ "icd11.foundation:1947003329" "MONDO:0005661" "ICD9:088.82" - "PMID:35347128" "PMID:32193296" "ZFA:0001077" "MEDGEN:934612" @@ -38136,6 +38136,10 @@ "UMLS:C0796088" "SCTID:725908007" "OMIM:256690" + "Orphanet:309813" + "GARD:21346" + "ICD10CM:E80.4" + "SCTID:403832004" "GARD:5100" "GARD:0005100" "MedDRA:10042926" @@ -38149,10 +38153,6 @@ "MONDO:0019392" "UMLS:C0406803" "Orphanet:840" - "Orphanet:309813" - "GARD:21346" - "ICD10CM:E80.4" - "SCTID:403832004" "PMID:24212143" "PMID:22525741" "PMID:10370651" @@ -38578,12 +38578,12 @@ "Wikipedia:Uvea" "MA:0002480" "GAID:912" - "PMID:26068415" "MONDO:0006569" "MEDGEN:9700" "UMLS:C0023219" "MESH:D007868" "DOID:3142" + "PMID:26068415" "NORD:1182" "MEDGEN:1684765" "SCTID:128207002" @@ -40368,13 +40368,13 @@ "ICD9:759.89" "GARD:13" "PMID:37164013" + "MEDGEN:412713" + "UMLS:C2749485" + "OMIM:256700" "UMLS:C0279547" "MEDGEN:83522" "NCIT:C7946" "DOID:6332" - "MEDGEN:412713" - "UMLS:C2749485" - "OMIM:256700" "PMID:35347128" "OMIM:618852" "ZFA:0001082" @@ -40692,13 +40692,13 @@ "ICD10:Q87.2" "PMID:29875488" "PMID:29875488" + "UMLS:C4310644" + "OMIM:617260" + "MEDGEN:934611" "CLO:0008154" " CLO:0050180" "RRID:CVCL_0470" "BTO:0001976" - "UMLS:C4310644" - "OMIM:617260" - "MEDGEN:934611" "NANDO:2201077" "UMLS:C5679945" "NANDO:1200787" @@ -41126,8 +41126,8 @@ "NCIT:C27507" "UMLS:C1333956" "DOID:482" - "PMID:23783272" "PMID:29875488" + "PMID:23783272" "NCIt:C3888" "MedDRA:10077284" "ICD9:312.39" @@ -41258,9 +41258,9 @@ "UMLS:C1866650" "OMIM:184510" "MeSH:C537487" - "SNOMEDCT:104659004" "PubChem:22908099" "CAS:162338-11-6" + "SNOMEDCT:104659004" "PMID:33634981" "http://purl.enanomapper.org/onto/ENM_0000029" "MedDRA:10007269" @@ -41349,8 +41349,8 @@ "Orphanet:284289" "OMIM:613728" "MeSH:D001024" - "DOID:1712" "SNOMEDCT:420503003" + "DOID:1712" "NCIt:C64938" "OMIM:109730" "MedDRA:10002906" @@ -41520,6 +41520,15 @@ "OMIM:222748" "UMLS:C0342803" "SCTID:238014002" + "MEDGEN:539251" + "UMLS:C0265437" + "icd11.foundation:2004070452" + "GARD:20881" + "Orphanet:262914" + "GARD:20666" + "MEDGEN:1843173" + "UMLS:C5679614" + "Orphanet:247815" "MESH:D020343" "ICD9:437.2" "ICD10CM:I67.4" @@ -41534,15 +41543,6 @@ "DOID:9427" "MONDO:0006796" "MeSH:D020343" - "MEDGEN:539251" - "UMLS:C0265437" - "icd11.foundation:2004070452" - "GARD:20881" - "Orphanet:262914" - "GARD:20666" - "MEDGEN:1843173" - "UMLS:C5679614" - "Orphanet:247815" "PMID:28240269" "MEDGEN:46202" "MONDO:0005085" @@ -41553,8 +41553,8 @@ "DOID:0002116" "MESH:D011625" "ICD9:372.4" - "COHD:375552" "UMLS:C0033999" + "COHD:375552" "ICD10:H11.00" "NCIT:C133744" "ICD10:H11.0" @@ -41568,6 +41568,9 @@ "ICDO:9761/3" "MEDGEN:473052" "ICDO:9671/3" + "UMLS:C1263995" + "MEDGEN:688237" + "SCTID:127039000" "MONDO:0005837" "ICD9:170.1" "DOID:2338" @@ -41579,15 +41582,12 @@ "NCIT:C35178" "UMLS:C0153511" "EFO:0007356" - "UMLS:C1263995" - "MEDGEN:688237" - "SCTID:127039000" "Orphanet:247198" "TGEMO:00041" "MGI:3609372" "GAID:611" - "HBA:9419" "VHOG:0000643" + "HBA:9419" "BIRNLEX:1263" "SCTID:180930008" "EHDAA:3502" @@ -41600,8 +41600,8 @@ "FMA:78448" "NCIT:C12834" "EHDAA2:0001984" - "BM:Tel-LV" "ZFA:0000696" + "BM:Tel-LV" "BAMS:Tel-V" "MBA:81" "UMLS:C0152279" @@ -41925,6 +41925,7 @@ "NCIT:C34709" "MEDGEN:9363" "HP:0010980" + "PMID:29875488" "NCIt:C75378" "SNOMEDCT:104957004" "NCIT:C4689" @@ -41936,7 +41937,6 @@ "OMIM:116920" "SCTID:234582006" "Orphanet:99842" - "PMID:29875488" "SNOMEDCT:258703001" "NCIt:C25301" "OMIM:309640" @@ -42548,7 +42548,6 @@ "SCTID:29740003" "ICD10CM:E41" "MedDRA:10026820" - "PMID:29875488" "MEDGEN:87280" "MONDO:0003311" "SNOMEDCT:68738004" @@ -42558,6 +42557,7 @@ "ICD9:239.5" "UMLS:C0334695" "SCTID:446887007" + "PMID:29875488" "PMID:14559825" "FBbt:00015256" "NCIt:C67357" @@ -42828,10 +42828,6 @@ "Orphanet:2704" "MEDGEN:98015" "UMLS:C0403555" - "UMLS:C1839129" - "OMIM:314300" - "MeSH:C536970" - "ICD10:Q87.8" "ICD9:483.0" "MESH:D011019" "MEDGEN:19363" @@ -42842,6 +42838,10 @@ "MeSH:D011019" "MONDO:0005867" "SCTID:46970008" + "UMLS:C1839129" + "OMIM:314300" + "MeSH:C536970" + "ICD10:Q87.8" "MEDGEN:382527" "UMLS:C2675112" "OMIM:612628" @@ -42900,6 +42900,7 @@ "PMID:19376872" "Wikipedia:High-content_screening" "ERO:0001655" + "PMID:25456834" "NCIT:C6796" "MEDGEN:234213" "UMLS:C1333371" @@ -42910,7 +42911,6 @@ "KEGG COMPOUND:C00865" "MeSH:D010743" "KEGG:C00865" - "PMID:25456834" "NANDO:2201058" "UMLS:C3890733" "MEDGEN:855737" @@ -43201,9 +43201,6 @@ "OMIM:309510" "OMIM:620762" "NCIt:C3970" - "UMLS:C1879362" - "SNOMEDCT_US:56595005" - "PMID:29875488" "OMIM:610758" "OMIM:610756" "UMLS:C2931277" @@ -43213,6 +43210,9 @@ "OMIM:616570" "UMLS:C0220722" "OMIM:214150" + "UMLS:C1879362" + "SNOMEDCT_US:56595005" + "PMID:29875488" "PMID:35347128" "Wikipedia:Type_II_hypersensitivity" "NCIt:C114345" @@ -43399,10 +43399,10 @@ "PMID:22429992" "MeSH:D003401" "PMID:19651674" - "PMID:35347128" "UMLS:C0018776" "NCIT:C34662" "MEDGEN:9162" + "PMID:35347128" "UMLS:C2931722" "GARD:17218" "Orphanet:254351" @@ -43745,13 +43745,13 @@ "DOID:1680" "NCIT:C27008" "PMID:29875488" + "icd11.foundation:2078345611" + "GARD:19191" + "Orphanet:93429" "MEDGEN:766702" "UMLS:C3553788" "OMIM:614820" "GARD:15845" - "icd11.foundation:2078345611" - "GARD:19191" - "Orphanet:93429" "MEDGEN:231934" "UMLS:C1332493" "NCIT:C6797" @@ -43794,8 +43794,8 @@ "DOID:0070474" "OMIM:617672" "MEDGEN:1626007" - "UMLS:C4540086" "GARD:13658" + "UMLS:C4540086" "UMLS:C0024904" "SNOMEDCT_US:52404001" "NCIT:C35212" @@ -44075,8 +44075,8 @@ "MESH:C567363" "MEDGEN:436776" "OMIM:612286" - "ICD10:Q87.8" "NCIt:C3616" + "ICD10:Q87.8" "PMID:34610981" "UMLS:C0236175" "UMLS:C1862839" @@ -44203,9 +44203,9 @@ "MEDGEN:482719" "UMLS:C3281089" "GARD:15814" - "PMID:29875488" "Orphanet:100980" "UMLS:CN226594" + "PMID:29875488" "DOID:7867" "UMLS:C1370504" "NCIT:C5792" @@ -44363,13 +44363,13 @@ "DOID:3608" "GARD:0010564" "NCIT:C7718" + "PMID:1568450" + "RRID:CVCL_A425" "OMIM:236670" "NCIT:C128118" "MEDGEN:924974" "UMLS:C4284790" "DOID:0111237" - "PMID:1568450" - "RRID:CVCL_A425" "MESH:D008413" "NCIt:C53662" "MeSH:D008413" @@ -44824,8 +44824,8 @@ "PMID:2543976" "Beilstein:636185" "CAS:59-51-8" - "SNOMEDCT:70288006" "UM-BBD:c0094" + "SNOMEDCT:70288006" "NIST Chemistry WebBook:59-51-8" "MeSH:D008715" "KEGG DRUG:D04983" @@ -44985,11 +44985,11 @@ "SCTID:128073008" "SNOMEDCT:311506003" "UMLS:C4025246" + "Orphanet:785" "MeSH:C535962" "UMLS:C0432317" "OMIM:131950" "ICD10:Q81.0" - "Orphanet:785" "PMID:29875488" "SNOMEDCT:54365000" "MeSH:D015010" @@ -45052,9 +45052,9 @@ "ICD-10:Q20.4" "SNOMEDCT_US:253283000" "EPCC:01.04.04" - "PMID:35347128" "MeSH:C562710" "SNOMEDCT:9859006" + "PMID:35347128" "MedDRA:10062499" "DOID:3122" "MeSH:D017219" @@ -45195,11 +45195,11 @@ "ICD9:756.3" "Orphanet:93269" "GARD:4833" + "OMIM:608673" + "ICD10:G60.0" "UMLS:C4693587" "MEDGEN:1645224" "OMIM:617917" - "OMIM:608673" - "ICD10:G60.0" "PMID:28240269" "PMID:36168886" "SCTID:719166003" @@ -45285,6 +45285,11 @@ "SCTID:715801001" "GARD:12441" "UMLS:C3540453" + "NCIT:C6020" + "MEDGEN:233610" + "DOID:2877" + "UMLS:C1334377" + "Orphanet:98593" "UMLS:C1845987" "NANDO:2200753" "MESH:C564539" @@ -45294,11 +45299,6 @@ "OMIM:300299" "Orphanet:86788" "DOID:0112128" - "NCIT:C6020" - "MEDGEN:233610" - "DOID:2877" - "UMLS:C1334377" - "Orphanet:98593" "OMIM:615596" "ICD10:E77.8" "Gmelin:325290" @@ -45372,13 +45372,13 @@ "MONDO:0006648" "MEDGEN:1569" "MESH:D000868" - "OMIM:601042" - "ICD10:G24.8" "UMLS:C3151000" "MEDGEN:462350" "Orphanet:306547" "GARD:17380" "OMIM:613730" + "OMIM:601042" + "ICD10:G24.8" "UMLS:C1846722" "MEDGEN:335505" "SCTID:719688002" @@ -45561,8 +45561,8 @@ "UMLS:C1854150" "PMID:35347128" "CMO:0000268" - "PMID:24816252" "BTO:0004812" + "PMID:24816252" "PMID:31015401" "UMLS:C0028064" "NCIt:C61269" @@ -46076,11 +46076,11 @@ "PMID:21610164" "RRID:CVCL_0122" "BTO:0001169" + "OMIM:609352" + "ICD10:Q81.0" "ICD10:G71.3" "OMIM:614052" "PMID:24816252" - "OMIM:609352" - "ICD10:Q81.0" "NCIT:C6840" "MEDGEN:277347" "DOID:7868" @@ -46125,8 +46125,8 @@ "DOID:0050433" "GARD:6429" "NCIT:C84711" - "SNOMEDCT:15330007" "PMID:24816252" + "SNOMEDCT:15330007" "PMID:28240269" "MESH:C535689" "SCTID:715440003" @@ -46195,8 +46195,8 @@ "UMLS:C1263887" "UMLS:CN228909" "Orphanet:100981" - "http://orcid.org/0000-0003-4183-8865" "OMIMPS:314580" + "http://orcid.org/0000-0003-4183-8865" "RRID:CVCL_0590" "MEDGEN:52365" "NCIT:C35025" @@ -46227,6 +46227,17 @@ "UMLS:C0340548" "OMIM:234810" "MedDRA:10077396" + "PMID:36168886" + "OMIM:619777" + "UMLS:C5676932" + "DOID:0070386" + "MEDGEN:1809351" + "MeSH:C092824" + "CiteXplore:7698199" + "PMID:7698199" + "Reaxys:8374093" + "CAS:135721-98-1" + "ChemIDplus:135721-98-1" "MedDRA:10073860" "OMIM:618475" "MEDGEN:10571" @@ -46242,17 +46253,6 @@ "SCTID:127027008" "ICDO:8680/1" "MESH:D010235" - "PMID:36168886" - "OMIM:619777" - "UMLS:C5676932" - "DOID:0070386" - "MEDGEN:1809351" - "MeSH:C092824" - "CiteXplore:7698199" - "PMID:7698199" - "Reaxys:8374093" - "CAS:135721-98-1" - "ChemIDplus:135721-98-1" "PMID:35347128" "UMLS:C0856897" "MEDGEN:208988" @@ -46572,9 +46572,9 @@ "UMLS:C0019552" "EHDAA2:0000783" "VHOG:0000346" - "EMAPA:17490" "EHDAA:5153" "BTO:0001457" + "EMAPA:17490" "MA:0000045" "galen:Hip" "EFO:0001929" @@ -46769,9 +46769,9 @@ "MEDGEN:348571" "DOID:0111573" "UMLS:C1860238" + "PMID:28240269" "UMLS:C0272085" "ICD10:D57.2" - "PMID:28240269" "OMIM:620152" "MEDGEN:1824039" "UMLS:C5774266" @@ -47414,13 +47414,13 @@ "MeSH:D018917" "ICD9:377.41" "PMID:29875488" - "icd11.foundation:1999264345" - "Orphanet:88993" - "GARD:19095" "DOID:7050" "UMLS:C1332464" "NCIT:C6456" "MEDGEN:231420" + "icd11.foundation:1999264345" + "Orphanet:88993" + "GARD:19095" "GARD:21620" "Orphanet:391343" "MEDGEN:1657472" @@ -47574,11 +47574,6 @@ "UMLS:C0029400" "KEGG COMPOUND:C18550" "ZFA:0001132" - "ICD10:H53.6" - "MeSH:C537743" - "UMLS:C1306122" - "OMIM:258100" - "OMIM:613411" "ICD10:G61" "SCTID:716723000" "NANDO:2200905" @@ -47595,6 +47590,11 @@ "OMIM:139393" "NANDO:1200030" "PMID:28319112" + "ICD10:H53.6" + "MeSH:C537743" + "UMLS:C1306122" + "OMIM:258100" + "OMIM:613411" "PMID:26068415" "PMID:35668104" "MeSH:D015817" @@ -47842,6 +47842,7 @@ "UMLS:C0851693" "DOID:5716" "MEDGEN:163414" + "NCIT:C33038" "BTO:0000752" "MAT:0000443" "CALOHA:TS-2102" @@ -47856,7 +47857,6 @@ "AAO:0011005" "MESH:D042601" "UMLS:C0229889" - "NCIT:C33038" "PMID:35050183" "PMID:35347128" "SNOMEDCT_US:197270009" @@ -47893,8 +47893,8 @@ "SCTID:61367005" "Orphanet:2311" "GARD:6798" - "PMID:28240269" "OMIMPS:609308" + "PMID:28240269" "PMID:24816252" "UMLS:C2930950" "ICD10:Q87.8" @@ -48134,8 +48134,8 @@ "NCIT:C9105" "UMLS:C2349952" "MEDGEN:379086" - "PMID:36168886" "PMID:33979322" + "PMID:36168886" "FBbt:00005618" "VFB:FBbt_00005618" "OMIM:618006" @@ -48388,9 +48388,9 @@ "CLO:0003647" "MeSH:C537851" "UMLS:C1859083" + "PMID:34610981" "PMID:23852452" "UMLS:C1851897" - "PMID:34610981" "PMID:31015401" "MeSH:D013298" "NCIt:C86806" @@ -48472,11 +48472,11 @@ "UMLS:C3839866" "GARD:17161" "Orphanet:231160" - "SNOMEDCT:121817007" "NCIT:C4553" "UMLS:C0346367" "MEDGEN:138061" "DOID:8400" + "SNOMEDCT:121817007" "PMID:26068415" "BTO:0002217" "DOID:5261" @@ -48484,6 +48484,11 @@ "UMLS:C1332848" "NCIT:C5364" "OMIM:614037" + "GARD:16425" + "UMLS:C5436882" + "OMIM:619133" + "MEDGEN:1771903" + "DOID:0081380" "ORDO:Orphanet_83467" "Wikipedia:Morvan%27s_syndrome" "SCTID:763803004" @@ -48493,11 +48498,6 @@ "UMLS:C3854373" "MedDRA:10075006" "MEDGEN:1632829" - "GARD:16425" - "UMLS:C5436882" - "OMIM:619133" - "MEDGEN:1771903" - "DOID:0081380" "OMIM:617711" "MeSH:D013036" "DOID:2481" @@ -48617,7 +48617,6 @@ "DOID:0110728" "MEDGEN:376792" "UMLS:C1850442" - "PMID:29875488" "MEDGEN:501212" "UMLS:C3495591" "GARD:9190" @@ -48634,6 +48633,7 @@ "MEDGEN:358387" "MESH:D054091" "DOID:0050454" + "PMID:29875488" "PMID:35347128" "NCIT:C6804" "UMLS:C0346342" @@ -48899,9 +48899,9 @@ "MEDGEN:2871" "DOID:4926" "PMID:29875488" - "OMIM:618702" "GARD:19855" "Orphanet:108959" + "OMIM:618702" "OMIM:609579" "GARD:3426" "MEDGEN:355365" @@ -49205,7 +49205,6 @@ "MEDGEN:233162" "UMLS:C1334625" "NCIT:C5027" - "PMID:35347128" "DOID:0111679" "UMLS:C0268609" "SCTID:59761008" @@ -49215,6 +49214,7 @@ "MEDGEN:82823" "OMIM:229100" "Orphanet:51208" + "PMID:35347128" "PMID:29844224" "UMLS:C1834934" "Fyler:0510" @@ -49844,10 +49844,10 @@ "NANDO:1200963" "GARD:1496" "SNOMEDCT:258798001" + "PMID:29875488" "MEDGEN:760465" "NCIT:C100093" "UMLS:C1696109" - "PMID:29875488" "PMID:24816252" "ICD9:191.2" "UMLS:C0153636" @@ -49855,12 +49855,12 @@ "DOID:2135" "SCTID:363468009" "ICD10CM:C71.2" + "PMID:31015401" "NCIT:C6187" "MEDGEN:277591" "DOID:6118" "UMLS:C1335751" "UMLS:C3279222" - "PMID:31015401" "DOID:0081431" "MEDGEN:1613834" "Orphanet:572773" @@ -49920,12 +49920,12 @@ "PMID:35347128" "PO:0020019" "MAT:0000214" + "ICD10:Q87.1" "MEDGEN:232062" "NANDO:2100004" "DOID:5823" "NCIT:C5165" "UMLS:C1332979" - "ICD10:Q87.1" "MONDO:0005614" "NCIT:C5721" "UMLS:C1335299" @@ -50015,9 +50015,9 @@ "UMLS:C4280656" "SNOMEDCT_US:72239002" "PMID:29875488" + "PMID:29875488" "ICD10:E85.0" "MedDRA:10070594" - "PMID:29875488" "OMIM:190360" "MESH:C566032" "MEDGEN:349898" @@ -50406,9 +50406,9 @@ "DOID:0050659" "MESH:C537658" "PMID:27984732" - "PMID:35347128" "GARD:17828" "Orphanet:466729" + "PMID:35347128" "ICD10CM:H35.5" "NANDO:1200943" "GARD:5440" @@ -50550,16 +50550,16 @@ "OMIMPS:118100" "GARD:10280" "RRID:CVCL_5132" - "NCIT:C4874" - "SCTID:126953009" - "MEDGEN:224729" - "UMLS:C1263885" "DOID:0111782" "MEDGEN:411701" "UMLS:C2748918" "GARD:21570" "Orphanet:364541" "SNOMEDCT:32137001" + "NCIT:C4874" + "SCTID:126953009" + "MEDGEN:224729" + "UMLS:C1263885" "UMLS:CN197488" "Orphanet:102005" "GARD:10629" @@ -50585,6 +50585,7 @@ "Wikipedia:Mushroom_body" "BTO:0002675" "EFO:0000925" + "PMID:29875488" "MEDGEN:1842305" "Orphanet:209059" "UMLS:C5680845" @@ -50592,7 +50593,6 @@ "NCIt:C48509" "MO:752" "SNOMEDCT:258719008" - "PMID:29875488" "MEDGEN:1842451" "Orphanet:35705" "GARD:18815" @@ -50852,6 +50852,11 @@ "PMID:37164013" "PMID:24816252" "PMID:28552477" + "MEDGEN:767552" + "GARD:15915" + "DOID:0111230" + "UMLS:C3554638" + "OMIM:615181" "OMIM:270550" "MESH:C536787" "GARD:4910" @@ -50860,11 +50865,6 @@ "SCTID:702445005" "DOID:0050946" "Orphanet:98" - "MEDGEN:767552" - "GARD:15915" - "DOID:0111230" - "UMLS:C3554638" - "OMIM:615181" "MEDGEN:376447" "MESH:C564767" "UMLS:C1848814" @@ -50922,6 +50922,15 @@ "EMAPA:16728" "galen:Lung" "Wikipedia:Lung" + "MedDRA:10028127" + "MeSH:D052016" + "SCTID:46775006" + "NCIT:C27560" + "MeSH:D006819" + "ICD9:769" + "OMIM:267450" + "DOID:12716" + "MONDO:0700081" "HMDB:0013250" "GARD:19856" "Orphanet:108961" @@ -50945,19 +50954,10 @@ "MEDGEN:335526" "SCTID:716999001" "OMIM:609583" - "MedDRA:10028127" - "MeSH:D052016" "Orphanet:315311" "MEDGEN:1826061" "GARD:21399" "UMLS:C5679895" - "SCTID:46775006" - "NCIT:C27560" - "MeSH:D006819" - "ICD9:769" - "OMIM:267450" - "DOID:12716" - "MONDO:0700081" "UMLS:C0836924" "NCIT:C35530" "MESH:D013922" @@ -50998,6 +50998,7 @@ "PMID:17279692" "Gmelin:346191" "MetaCyc:ARACHIDIC_ACID" + "PMID:33634981" "Patent:US2581868" "CAS:91-80-5" "Reaxys:220729" @@ -51013,7 +51014,6 @@ "MeSH:D008701" "PMID:11137066" "Drug_Central:1738" - "PMID:33634981" "SCTID:205130008" "MEDGEN:609220" "GARD:21200" @@ -51401,6 +51401,13 @@ "ONCOTREE:CECC" "EFO:1000163" "MEDGEN:234113" + "NCIT:C112181" + "MeSH:D014005" + "DOID:12404" + "MedDRA:10043864" + "MONDO:0005982" + "UMLS:C0040247" + "MEDGEN:52757" "NCIT:C53971" "HP:0010736" "MESH:D005358" @@ -51411,13 +51418,11 @@ "ICD10CM:Q78.1" "SCTID:89859004" "MEDGEN:42020" - "NCIT:C112181" - "MeSH:D014005" - "DOID:12404" - "MedDRA:10043864" - "MONDO:0005982" - "UMLS:C0040247" - "MEDGEN:52757" + "MESH:D020141" + "SCTID:21112004" + "MEDGEN:154721" + "DOID:484" + "UMLS:C0600502" "Orphanet:1486" "UMLS:C1854664" "SCTID:715418007" @@ -51426,11 +51431,6 @@ "GARD:3227" "OMIM:253310" "MEDGEN:344338" - "MESH:D020141" - "SCTID:21112004" - "MEDGEN:154721" - "DOID:484" - "UMLS:C0600502" "PMID:36168886" "EV:0100037" "UMLS:C0028429" @@ -51597,9 +51597,9 @@ "VHOG:0000375" "EHDAA2:0001239" "CALOHA:TS-0663" - "SCTID:181200003" "BTO:0000662" "GAID:339" + "SCTID:181200003" "UMLS:C0027442" "MESH:D009305" "FMA:54878" @@ -51703,8 +51703,8 @@ "SNOMEDCT:372718005" "KEGG:D08070" "PMID:29844224" - "http://www.ebi.ac.uk/efo/EFO_0005128" "PMID:29403010" + "http://www.ebi.ac.uk/efo/EFO_0005128" "UMLS:C4022631" "MEDGEN:1716712" "UMLS:C5394362" @@ -52096,12 +52096,12 @@ "DOID:10655" "UMLS:C0940607" "MEDGEN:182652" + "ICD10:E66.8" "MEDGEN:1672817" "ICD10CM:Q78.0" "UMLS:C5190607" "Orphanet:314029" "GARD:21366" - "ICD10:E66.8" "NCIT:C5777" "EFO:1000248" "MONDO:0006203" @@ -52948,7 +52948,6 @@ "MEDGEN:398476" "UMLS:C2700405" "DOID:0110956" - "EHDAA2:0001834" "SCTID:361103004" "EMAPA:17421" "GAID:60" @@ -52964,6 +52963,7 @@ "MESH:D012782" "EFO:0003068" "EHDAA:6228" + "EHDAA2:0001834" "DOID:0081420" "UMLS:C1858477" "GARD:13295" @@ -52998,8 +52998,8 @@ "MeSH:D002561" "ICD10:I67" "MedDRA:10008200" - "MEDGEN:66909" "ICD10:M76" + "MEDGEN:66909" "MONDO:0002183" "ICD9:726.90" "ICD10:M77" @@ -53092,8 +53092,8 @@ "PMID:29875488" "PMID:27520321" "PMID:25028896" - "MA:0000877" "CALOHA:TS-1154" + "MA:0000877" "FMA:62035" "EV:0100224" "BAMS:SUB" @@ -53416,12 +53416,12 @@ "PMID:29296746" "SNOMEDCT:113021009" "MeSH:D003935" + "NCIT:C27667" + "SCTID:734045002" "MEDGEN:233747" "DOID:10813" "UMLS:C1334921" "NCIT:C6074" - "NCIT:C27667" - "SCTID:734045002" "UMLS:C1997217" "DOID:0080829" "MEDGEN:744283" @@ -53445,13 +53445,13 @@ "UMLS:C0039482" "MESH:D013699" "UMLS:C1844749" - "PMID:29875488" "NCIT:C27907" "DOID:707" "MEDGEN:86953" "GARD:5877" "UMLS:C0079731" "MESH:D016393" + "PMID:29875488" "EPCC:06.02.92" "Fyler:1511" "UMLS:C0026269" @@ -53706,6 +53706,15 @@ "BTO:0003002" "UMLS:C0227837" "NCIT:C12309" + "Wikipedia:Axon_guidance" + "SCTID:763387005" + "GARD:182" + "Orphanet:1243" + "MEDGEN:411553" + "UMLS:C2745945" + "NORD:853" + "OMIM:153700" + "ICD10CM:H35.5" "EFO:1000582" "ICD10:C37" "GARD:20894" @@ -53718,20 +53727,6 @@ "ICD10:D15.0" "DOID:3280" "UMLS:C1266092" - "Wikipedia:Axon_guidance" - "SCTID:763387005" - "GARD:182" - "Orphanet:1243" - "MEDGEN:411553" - "UMLS:C2745945" - "NORD:853" - "OMIM:153700" - "ICD10CM:H35.5" - "DOID:0111857" - "GARD:16383" - "UMLS:C5394104" - "OMIM:618801" - "MEDGEN:1714988" "MONDO:0005253" "MedDRA:10020080" "Wikipedia:High-output_cardiac_failure" @@ -53739,6 +53734,11 @@ "MEDGEN:526135" "SCTID:10091002" "UMLS:C0221045" + "DOID:0111857" + "GARD:16383" + "UMLS:C5394104" + "OMIM:618801" + "MEDGEN:1714988" "MEDGEN:384518" "UMLS:C2242987" "NCIT:C3217" @@ -53837,8 +53837,8 @@ "OMIM:615120" "GARD:20010" "Orphanet:156629" - "Orphanet:79224" "MEDGEN:48263" + "Orphanet:79224" "DOID:653" "MedDRA:10037546" "ICD9:277.2" @@ -54604,7 +54604,6 @@ "MESH:D007153" "UMLS:C0398686" "DOID:612" - "PMID:35347128" "MeSH:D002769" "MEDGEN:3039" "MedDRA:10008629" @@ -54619,6 +54618,7 @@ "DOID:10211" "MESH:D002769" "ICD9:574" + "PMID:35347128" "MedDRA:10047505" "SCTID:186803007" "NCIT:C34771" @@ -54738,11 +54738,11 @@ "NCIt:C25738" "MedDRA:10061216" "MeSH:D007238" - "PMID:27411092" "GARD:21075" "UMLS:C5438815" "Orphanet:280229" "MEDGEN:1753109" + "PMID:27411092" "GARD:21957" "PMID:29875488" "ZFA:0000096" @@ -54768,6 +54768,7 @@ "MEDGEN:338875" "MESH:C565010" "CALOHA:TS-0732" + "FMA:18245" "EMAPA:35660" "Wikipedia:Fallopian_tube" "EV:0100112" @@ -54779,7 +54780,6 @@ "SCTID:181463001" "EHDAA2:0000504" "UMLS:C0015560" - "FMA:18245" "MEDGEN:1750188" "OMIM:619044" "DOID:0112109" @@ -54869,6 +54869,10 @@ "UMLS:C0268350" "MESH:C562627" "DOID:0070142" + "MEDGEN:1842971" + "UMLS:C5680036" + "Orphanet:399169" + "GARD:21659" "NCIT:C8971" "ONCOTREE:ERMS" "MedDRA:10065868" @@ -54886,10 +54890,6 @@ "MONDO:0009993" "GARD:4702" "UMLS:C0206656" - "MEDGEN:1842971" - "UMLS:C5680036" - "Orphanet:399169" - "GARD:21659" "ICD9:222.0" "MEDGEN:57576" "NCIT:C3612" @@ -55047,6 +55047,15 @@ "MESH:C567572" "GARD:15321" "PMID:29875488" + "ICD10CM:B48.3" + "MEDGEN:42202" + "MESH:D005847" + "SCTID:13969006" + "DOID:2832" + "MONDO:0005772" + "UMLS:C0017455" + "MeSH:D005847" + "ICD9:117.9" "GARD:6621" "DOID:2373" "Orphanet:288" @@ -55062,15 +55071,6 @@ "MedDRA:10014490" "MEDGEN:41747" "ZFA:0001269" - "ICD10CM:B48.3" - "MEDGEN:42202" - "MESH:D005847" - "SCTID:13969006" - "DOID:2832" - "MONDO:0005772" - "UMLS:C0017455" - "MeSH:D005847" - "ICD9:117.9" "PMID:34610981" "ICD10:G31.0" "NCIT:C128332" @@ -55122,6 +55122,8 @@ "UMLS:C1335355" "PMID:35347128" "PMID:37164013" + "OMIM:611597" + "ICD10:Q12.0" "ONCOTREE:CHS" "SCTID:443520009" "UMLS:C0008479" @@ -55157,10 +55159,6 @@ "OMIM:616829" "MESH:C535747" "MONDO:0005501" - "OMIM:611597" - "ICD10:Q12.0" - "BTO:0002045" - "NCIt:C12685" "SCTID:26682008" "MEDGEN:283" "UMLS:C0002875" @@ -55169,6 +55167,8 @@ "NCIT:C129699" "DOID:0080771" "ICD9:282.49" + "BTO:0002045" + "NCIt:C12685" "OMIM:616364" "GARD:13774" "UMLS:C4225351" @@ -55613,7 +55613,6 @@ "Orphanet:99846" "MEDGEN:320384" "MESH:C563546" - "HMDB:0032740" "NCIT:C6542" "MEDGEN:272471" "DOID:6161" @@ -55622,6 +55621,7 @@ "UMLS:C0205650" "DOID:3172" "MEDGEN:59999" + "HMDB:0032740" "MEDGEN:52426" "ICD9:123.5" "MONDO:0005963" @@ -55687,6 +55687,7 @@ "FBbt:00017009" "SNOMEDCT:396180007" "NCIt:C67411" + "MeSH:D008017" "SCTID:410692006" "CSP:1114-9593" "SNOMEDCT:410692006" @@ -55703,7 +55704,6 @@ "MESH:D014606" "NCIt:C35109" "MEDGEN:22595" - "MeSH:D008017" "NCIT:C27825" "UMLS:C0334368" "MEDGEN:87225" @@ -56009,8 +56009,8 @@ "UMLS:C0877149" "MEDGEN:164080" "SCTID:430725003" - "MESH:D046788" "MeSH:D046788" + "MESH:D046788" "MedDRA:10049143" "DOID:14284" "PMID:29875488" @@ -56293,12 +56293,12 @@ "UMLS:C1843761" "MESH:C564384" "OMIM:607523" + "PMID:35347128" "DOID:0070535" "UMLS:C5679932" "Orphanet:293899" "GARD:17346" "MEDGEN:1843254" - "PMID:35347128" "Orphanet:617" "UMLS:C4273898" "MEDGEN:903364" @@ -57628,9 +57628,6 @@ "MedDRA:10006475" "OMIM:612949" "ICD10:G31.8" - "CLO:0001582" - "BTO:0002806" - "RRID:CVCL_0132" "Beilstein:8471798" "NCIt:C28910" "DrugBank:DB00520" @@ -57643,6 +57640,9 @@ "Drug_Central:2977" "Patent:US5378804" "MeSH:C105417" + "CLO:0001582" + "BTO:0002806" + "RRID:CVCL_0132" "DOID:0050989" "Orphanet:37612" "MEDGEN:318554" @@ -57652,10 +57652,10 @@ "OMIM:160120" "OMIM:613796" "PMID:35697867" - "UMLS:C4025860" "OMIM:616052" "ICD10:G71.0" "OMIM:617232" + "UMLS:C4025860" "CAS:124-38-9" "PMID:19259576" "PMID:8482095" @@ -57737,9 +57737,9 @@ "OMIM:307800" "ICD10:E83.3" "MedDRA:10077957" + "PMID:26068415" "DOID:0070454" "OMIM:620323" - "PMID:26068415" "SNOMEDCT:70106000" "NCIt:C616" "KEGG:C01356" @@ -58174,6 +58174,9 @@ "GARD:18981" "Orphanet:79226" "MEDGEN:1842986" + "MEDGEN:233147" + "UMLS:C1334571" + "NCIT:C6758" "NCIT:C85002" "MEDGEN:10617" "MESH:D010381" @@ -58186,9 +58189,6 @@ "OMIM:169400" "NCIt:C85002" "MedDRA:10029377" - "MEDGEN:233147" - "UMLS:C1334571" - "NCIT:C6758" "GARD:4769" "UMLS:C4551860" "NCIT:C123438" @@ -58352,8 +58352,8 @@ "UMLS:C4551774" "Orphanet:391641" "SCTID:702431004" - "SCTID:362092002" "EFO:0002553" + "SCTID:362092002" "FMA:54807" "UMLS:C0393538" "MESH:C536879" @@ -58532,6 +58532,9 @@ "MESH:D020817" "Orphanet:1162" "NCIt:C97159" + "OMIM:125370" + "UMLS:C0751781" + "ICD10:G11" "DOID:1967" "NCIT:C3158" "MEDGEN:9711" @@ -58551,9 +58554,6 @@ "UMLS:C0023269" "SCTID:443719001" "GARD:0006880" - "OMIM:125370" - "UMLS:C0751781" - "ICD10:G11" "DOID:4865" "MeSH:D014036" "MONDO:0005985" @@ -59312,8 +59312,8 @@ "MeSH:D001739" "UMLS:CN204780" "Orphanet:365563" - "DOID:9779" "UMLS:C2004461" + "DOID:9779" "ICD9:564.9" "MEDGEN:384468" "SCTID:235594008" @@ -59484,6 +59484,8 @@ "MEDGEN:61565" "NANDO:1200948" "MESH:D017825" + "ICD10:Q93.5" + "OMIM:613457" "NCIT:C4375" "NANDO:2200399" "SCTID:42681006" @@ -59498,8 +59500,6 @@ "UMLS:C1864903" "MONDO:0005803" "HP:0000825" - "ICD10:Q93.5" - "OMIM:613457" "SCTID:717332007" "OMIM:601238" "Orphanet:94122" @@ -59559,11 +59559,11 @@ "UMLS:C1707390" "MEDGEN:313028" "NCIT:C42589" + "UMLS:C4072908" "UMLS:C5680632" "MEDGEN:1843131" "Orphanet:155835" "GARD:19973" - "UMLS:C4072908" "MEDGEN:1684847" "UMLS:C5231479" "OMIM:618729" @@ -60087,13 +60087,13 @@ "UMLS:C1335418" "MEDGEN:235478" "PMID:24816252" - "MedDRA:10022523" "MEDGEN:462290" "Orphanet:294026" "DOID:0060458" "UMLS:C3150940" "GARD:15688" "OMIM:613681" + "MedDRA:10022523" "UMLS:C0079584" "MEDGEN:38217" "NCIT:C84778" @@ -60268,15 +60268,21 @@ "UMLS:C3241919" "GARD:22049" "PMID:35668104" - "NCIt:C52814" - "MeSH:D010543" "RRID:CVCL_C466" "BTO:0006092" + "NCIt:C52814" + "MeSH:D010543" "PMID:33634981" "MESH:D009234" "MeSH:D009234" "DOID:3297" "MONDO:0005811" + "SCTID:82639001" + "MESH:D011293" + "UMLS:C0376356" + "ICD9:625.4" + "DOID:727" + "MEDGEN:87683" "GARD:15105" "MEDGEN:18419" "ONCOTREE:PHC" @@ -60290,12 +60296,6 @@ "GARD:21156" "UMLS:C0342669" "ICD9:270.7" - "SCTID:82639001" - "MESH:D011293" - "UMLS:C0376356" - "ICD9:625.4" - "DOID:727" - "MEDGEN:87683" "PMID:28250457" "UMLS:C0158995" "MEDGEN:102361" @@ -60462,8 +60462,6 @@ "MEDGEN:1710207" "OMIM:618805" "UMLS:C5394125" - "OMIM:607091" - "ICD10:E77.8" "DOID:0111275" "OMIM:602081" "UMLS:C0750927" @@ -60481,6 +60479,8 @@ "MeSH:D016615" "Wikipedia:Aldosterone" "PMID:31169883" + "OMIM:607091" + "ICD10:E77.8" "PMID:22369679" "CiteXplore:22369679" "CiteXplore:22337620" @@ -60512,6 +60512,10 @@ "Orphanet:371195" "GARD:21609" "Orphanet:263355" + "UMLS:C1264040" + "OMIM:613554" + "MeSH:D056728" + "ICD10:D68.0" "PMID:29875488" "PMID:35347128" "DOID:0081003" @@ -60519,10 +60523,6 @@ "UMLS:C4225179" "GARD:16470" "MEDGEN:908796" - "UMLS:C1264040" - "OMIM:613554" - "MeSH:D056728" - "ICD10:D68.0" "MEDGEN:318935" "UMLS:C1833683" "OMIMPS:167030" @@ -60958,8 +60958,8 @@ "GARD:4085" "MEDGEN:388129" "BTO:0000231" - "PMID:29875488" "PMID:28878392" + "PMID:29875488" "PMID:35347128" "SNOMEDCT:430749000" "NCIt:C102259" @@ -61244,7 +61244,11 @@ "ICD10CM:D53.0" "Orphanet:98415" "MEDGEN:1842832" + "ICD10:Q93.5" + "MeSH:C538316" + "UMLS:C2931816" "PMID:29875488" + "Orphanet:95161" "DOID:3187" "NCIT:C9377" "UMLS:C0346286" @@ -61252,10 +61256,6 @@ "SCTID:254940005" "RRID:CVCL_3712" "CLO:0003772" - "Orphanet:95161" - "ICD10:Q93.5" - "MeSH:C538316" - "UMLS:C2931816" "ICD10:K10" "NCIT:C66758" "UMLS:C0206738" @@ -61561,13 +61561,13 @@ "NANDO:2200418" "MedDRA:10008521" "SCTID:1212005" - "RRID:CVCL_6804" "MEDGEN:814727" "OMIM:614039" "DOID:0090137" "Orphanet:300570" "UMLS:C3808397" "GARD:13032" + "RRID:CVCL_6804" "PMID:36168886" "NCIT:C33314" "Wikipedia:Peroneal_artery" @@ -61852,8 +61852,8 @@ "RRID:CVCL_0095" "FMA:14337" "galen:HepaticVein" - "TAO:0000670" "UMLS:C0019155" + "TAO:0000670" "MA:0003015" "Wikipedia:Hepatic_vein" "ZFA:0000670" @@ -61907,6 +61907,8 @@ "OMIMPS:108600" "Orphanet:98353" "GARD:19449" + "ICD10:Q87.0" + "OMIM:608432" "ICD10:Q74.8" "OMIM:200500" "ORDO:931" @@ -61914,8 +61916,6 @@ "MeSH:C536014" "UMLS:C0265559" "Wikipedia:Acheiropodia" - "ICD10:Q87.0" - "OMIM:608432" "PMID:29875488" "MEDGEN:56207" "NCIT:C3495" @@ -62012,17 +62012,17 @@ "DOID:5170" "UMLS:C3642329" "NCIT:C40270" + "Medgen:C3887501" + "OMIM:608709" "MEDGEN:372034" "Orphanet:2699" "UMLS:C1835396" "OMIM:151630" "SCTID:722034006" "GARD:3440" + "PMID:25953818" "NCIt:C15222" "MeSH:D004032" - "Medgen:C3887501" - "OMIM:608709" - "PMID:25953818" "FBdv:00005349" "Wikipedia:Pupa" "EMAPA:37653" @@ -62362,10 +62362,10 @@ "UMLS:C0154040" "MEDGEN:56330" "NCIT:C3629" - "OMIM:192315" "UMLS:C3809874" "OMIM:615545" "MEDGEN:816204" + "OMIM:192315" "https://catalog.coriell.org" "Orphanet:98963" "MESH:C535474" @@ -62462,11 +62462,11 @@ "MeSH:D001491" "CALOHA:TS-0073" "BTO:0000129" - "PMID:35347128" "UMLS:C0281796" "EFO:1000168" "MEDGEN:129096" "MONDO:0006139" + "PMID:35347128" "PMID:29875488" "MeSH:D017227" "MEDGEN:21221" @@ -62647,8 +62647,8 @@ "UMLS:C4287868" "NCIT:C8384" "MEDGEN:925400" - "PMID:35347128" "PMID:24816252" + "PMID:35347128" "Orphanet:28" "GARD:12623" "MEDGEN:575193" @@ -62708,12 +62708,12 @@ "NCIT:C13074" "EMAPA:25135" "PMID:29875488" + "Orphanet:206970" "GARD:20372" "MEDGEN:107510" "MESH:D020967" "MedDRA:10028658" "UMLS:C0553604" - "Orphanet:206970" "UMLS:C1837014" "OMIM:607554" "MESH:C563817" @@ -62855,11 +62855,11 @@ "ICDO:8077/2" "ICDO:8070/2" "NCIT:C27093" - "Medgen:CN239479" "PMID:29875488" + "Medgen:CN239479" + "PMID:29875488" "PMID:33634981" "RRID:CVCL_2206" - "PMID:29875488" "UMLS:C4747658" "MEDGEN:1662086" "UMLS:C4747517" @@ -63141,12 +63141,12 @@ "OMIM:164280" "ICD10:Q87.8" "PMID:29875488" + "PMID:32641083" "MEDGEN:488851" "ICD9:242.00" "UMLS:C0342122" "SCTID:267374005" "DOID:10719" - "PMID:32641083" "FMA:70550" "ZFA:0009033" "BTO:0001724" @@ -64908,9 +64908,9 @@ "MEDGEN:766782" "UMLS:C3553868" "OMIM:614849" - "NCIt:C4051" "NCIt:C27273" "MeSH:D057091" + "NCIt:C4051" "SCTID:715820004" "MEDGEN:900624" "UMLS:C4274992" @@ -64937,9 +64937,9 @@ "MAT:0000491" "MeSH:D001105" "NCIt:C61092" - "PMID:29875488" "UMLS:C4025857" "UMLS:C1857078" + "PMID:29875488" "Reaxys:1714841" "HMDB:HMDB0011172" "PMID:22770225" @@ -65504,8 +65504,8 @@ "ICD10:F84.3" "MedDRA:10061345" "ICD10:F84.4" - "Orphanet:370959" "UMLS:C4022964" + "Orphanet:370959" "PMID:28240269" "EV:0100118" "VHOG:0001458" @@ -66083,9 +66083,9 @@ "PMID:35347128" "ICD10:Q87.8" "ZFA:0000094" - "PMID:29875488" "UMLS:C1855330" "SNOMEDCT:71803001" + "PMID:29875488" "MeSH:D053202" "MedDRA:10046494" "SNOMEDCT:87557004" @@ -66267,13 +66267,13 @@ "MEDGEN:18780" "UMLS:C0034194" "NCIt:C139066" - "UMLS:C1865847" - "PMID:35347128" "MedDRA:10084410" "MeSH:C538184" "UMLS:C0265245" "ICD10:Q75.4" "OMIM:154400" + "UMLS:C1865847" + "PMID:35347128" "ZFS:0000023" "GARD:386" "MEDGEN:419746" @@ -66350,10 +66350,6 @@ "EMAPA:16640" "Wikipedia:Prosencephalon" "EHDAA:2643" - "UMLS:C2936859" - "ICD10:Q87.8" - "MeSH:C536108" - "OMIM:310465" "PMID:22177955" "PMID:22174792" "CAS:74772-77-3" @@ -66396,6 +66392,10 @@ "PMID:21354099" "SNOMEDCT:63369000" "FMA:84198" + "UMLS:C2936859" + "ICD10:Q87.8" + "MeSH:C536108" + "OMIM:310465" "OMIM:607584" "ICD10:G11.4" "PMID:35347128" @@ -66519,12 +66519,12 @@ "OMIM:150250" "UMLS:C2931648" "NCIt:C6846" - "DOID:4147" "MEDGEN:184920" "MONDO:0006180" "NCIT:C36207" "UMLS:C0948101" "EFO:1000217" + "DOID:4147" "MedDRA:10008171" "SNOMEDCT:68382005" "ICD9:388.61" @@ -66717,6 +66717,7 @@ "NCIt:C3414" "Orphanet:98720" "PMID:24816252" + "SNOMEDCT:26716007" "MedDRA:10008272" "DOID:9681" "MedDRA:10008271" @@ -66732,7 +66733,6 @@ "MONDO:0005698" "MedDRA:10008273" "MESH:D002581" - "SNOMEDCT:26716007" "PMID:22330257" "Beilstein:3077644" "DrugBank:DB01017" @@ -67169,14 +67169,14 @@ "NANDO:1200129" "MEDGEN:888408" "MESH:D044905" - "Orphanet:453499" - "GARD:17785" "GARD:17089" "Orphanet:199279" "MEDGEN:347235" "OMIM:206550" "MESH:C565951" "UMLS:C1859784" + "Orphanet:453499" + "GARD:17785" "UMLS:C0235475" "SNOMEDCT_US:991002" "UMLS:C3695063" @@ -67422,9 +67422,9 @@ "SNOMEDCT:108961000" "SNOMEDCT:373453009" "NCIt:C1954" + "KEGG COMPOUND:C14417" "Orphanet:98853" "GARD:16865" - "KEGG COMPOUND:C14417" "NCIT:C4949" "UMLS:C1112746" "DOID:901" @@ -67560,6 +67560,7 @@ "GARD:10706" "PMID:29747637" "PMID:29875488" + "PMID:25762552" "MESH:C562907" "GARD:10363" "UMLS:C0406443" @@ -67574,7 +67575,6 @@ "MEDGEN:207270" "NCIT:C6762" "DOID:7134" - "PMID:25762552" "NCIt:C15271" "SNOMEDCT:3860006" "OMIT:0016620" @@ -67762,8 +67762,8 @@ "MEDGEN:1647585" "GARD:10898" "GO:0009314" - "PMID:29875488" "PMID:30631343" + "PMID:29875488" "NCIT:C6148" "UMLS:C1377909" "MEDGEN:237178" @@ -68090,8 +68090,6 @@ "KEGG:C00723" "PMID:31301295" "PMID:22843207" - "UMLS:C0796001" - "OMIM:246555" "MEDGEN:358" "DOID:2983" "MedDRA:10002847" @@ -68106,6 +68104,8 @@ "MESH:C566281" "GARD:685" "OMIM:106220" + "UMLS:C0796001" + "OMIM:246555" "Orphanet:93961" "DOID:0050844" "MEDGEN:409603" @@ -68462,9 +68462,9 @@ "TAO:0005061" "EMAPA:32748" "EFO:0003088" - "NCIt:C6290" "TGEMO:00112" "MGI:2661783" + "NCIt:C6290" "RRID:CVCL_0E00" "NCIT:C5718" "DOID:7235" @@ -69213,13 +69213,6 @@ "MedDRA:10064570" "OMIM:616115" "UMLS:C0343068" - "MEDGEN:501111" - "Orphanet:2297" - "OMIM:610549" - "GARD:3008" - "NCIT:C131836" - "MESH:C562710" - "UMLS:C0342278" "SCTID:31712002" "NANDO:1200439" "ICD9:571.6" @@ -69240,6 +69233,13 @@ "MedDRA:10004661" "icd11.foundation:649193479" "MedDRA:10036680" + "MEDGEN:501111" + "Orphanet:2297" + "OMIM:610549" + "GARD:3008" + "NCIT:C131836" + "MESH:C562710" + "UMLS:C0342278" "PMID:35347128" "OMIM:607326" "DOID:0081270" @@ -69298,11 +69298,11 @@ "ICD9:756.9" "Orphanet:1040" "MEDGEN:96582" + "Wikipedia:Phagocytosis" "MEDGEN:1841181" "UMLS:C5830545" "OMIM:620386" "DOID:0081374" - "Wikipedia:Phagocytosis" "EV:0300051" "XAO:1000010" "XtroDO:0000083" @@ -69656,7 +69656,6 @@ "NCIT:C128188" "DOID:0111778" "OMIM:400044" - "PMID:35347128" "ICDO:9424/3" "GARD:10631" "Orphanet:251607" @@ -69665,6 +69664,7 @@ "ONCOTREE:PXA" "DOID:4852" "NCIT:C4323" + "PMID:35347128" "Orphanet:98098" "MEDGEN:1842627" "UMLS:C5681515" @@ -70028,11 +70028,6 @@ "MONDO:0005143" "PMID:24816252" "PMID:29875488" - "OMIM:500010" - "OMIM:607459" - "MeSH:C537583" - "UMLS:C1843851" - "ICD10:G71.3" "GARD:15748" "UMLS:C3279695" "MEDGEN:481325" @@ -70057,6 +70052,11 @@ "NCIT:C12460" "TAO:0001353" "SCTID:362394008" + "OMIM:500010" + "OMIM:607459" + "MeSH:C537583" + "UMLS:C1843851" + "ICD10:G71.3" "RRID:CVCL_0104" "BTO:0004765" "SCTID:315345002" @@ -70723,12 +70723,12 @@ "CAS:499-04-7" "UMLS:C0948187" "SNOMEDCT_US:95434006" - "PMID:29875488" "MEDGEN:313370" "DOID:0080304" "UMLS:C1708776" "NCIT:C45512" "DOID:0080303" + "PMID:29875488" "UMLS:C1849537" "ICD9:386.10" "ICD9:386.1" @@ -71446,13 +71446,13 @@ "GARD:476" "SNOMEDCT:12368000" "ICD10:K74.4" + "PMID:28240269" "Orphanet:363528" "OMIM:615286" "DOID:0081099" "UMLS:C4750838" "MEDGEN:1665943" "GARD:17563" - "PMID:28240269" "NCIT:C13050" "Wikipedia:Skeletal_striated_muscle" "MA:0002439" @@ -71629,7 +71629,6 @@ "DHBA:12667" "EMAPA:16290" "TAO:0001031" - "PMID:29875488" "SNOMEDCT:30767006" "MONDO:0006766" "DOID:4260" @@ -71638,6 +71637,7 @@ "MEDGEN:266930" "MeSH:D020235" "MedDRA:10070635" + "PMID:29875488" "OMIM:300471" "ICD10:Q87.8" "MedDRA:10007116" @@ -71742,12 +71742,12 @@ "NCIT:C95584" "SCTID:254613007" "MEDGEN:459467" + "PMID:35347128" "SCTID:764524005" "UMLS:C4706942" "GARD:20780" "MEDGEN:1637660" "Orphanet:261337" - "PMID:35347128" "PMID:34260947" "OMIM:616964" "UMLS:C3808876" @@ -71835,8 +71835,6 @@ "MEDGEN:233407" "NCIT:C7353" "Orphanet:98590" - "OMIM:604801" - "ICD10:G71.2" "NCIT:C113400" "ICD10CM:K76.7" "MEDGEN:9224" @@ -71845,10 +71843,21 @@ "MESH:D006530" "ICD9:572.4" "SCTID:51292008" + "OMIM:604801" + "ICD10:G71.2" "MEDGEN:1843485" "MedDRA:10015907" "MONDO:0005551" "UMLS:C0852875" + "AAO:0010580" + "XAO:0001001" + "Wikipedia:Cranial_neural_crest" + "TAO:0001194" + "EHDAA2:0004420" + "EMAPA:16091" + "ZFA:0001194" + "VHOG:0000063" + "EFO:0003645" "MEDGEN:375536" "GARD:28" "OMIM:302380" @@ -71859,15 +71868,6 @@ "Orphanet:1388" "NORD:901" "UMLS:C1844887" - "AAO:0010580" - "XAO:0001001" - "Wikipedia:Cranial_neural_crest" - "TAO:0001194" - "EHDAA2:0004420" - "EMAPA:16091" - "ZFA:0001194" - "VHOG:0000063" - "EFO:0003645" "NCIT:C6015" "DOID:4930" "MEDGEN:233746" @@ -71937,6 +71937,8 @@ "OMIM:306980" "MeSH:C538319" "ICD10:Q43.1" + "ICD10:G60.0" + "OMIM:607734" "DOID:136" "MONDO:0006488" "MEDGEN:275573" @@ -71949,8 +71951,6 @@ "UMLS:C0740372" "NCIT:C38162" "SCTID:449072004" - "ICD10:G60.0" - "OMIM:607734" "PMID:3017841" "BTO:0000773" "MESH:D008072" @@ -72355,13 +72355,13 @@ "TAO:0001053" "EFO:0003612" "PMID:33634981" + "UMLS:C1527388" + "MeSH:D000652" + "ICD10:Q79.8" "PMID:31043756" "DOID:14042" "MedDRA:10004939" "MedDRA:10068455" - "UMLS:C1527388" - "MeSH:D000652" - "ICD10:Q79.8" "UMLS:C1832342" "OMIM:609069" "GARD:16670" @@ -72631,12 +72631,12 @@ "PMID:28240269" "PMID:21886157" "HMDB:HMDB0029156" - "UMLS:C1833734" "ICD10:Q87.8" "OMIM:600501" "OMIM:613266" "OMIM:613265" "OMIM:277580" + "UMLS:C1833734" "MESH:C563936" "GARD:1167" "MEDGEN:324947" @@ -72831,8 +72831,8 @@ "BTO:0004685" "AAO:0011078" "SCTID:279727008" - "VHOG:0001219" "XAO:0000193" + "VHOG:0001219" "Wikipedia:Bony_labyrinth" "NCIT:C33227" "EMAPA:36580" @@ -73011,11 +73011,11 @@ "Wikipedia:Docosapentaenoic_acid" "PMID:17547694" "NCIt:C68347" - "PMID:23823483" "DOID:6903" "NCIT:C35690" "MEDGEN:1788822" "UMLS:C0730306" + "PMID:23823483" "ICD10:Q93.5" "SNOMEDCT:21327008" "UMLS:C4280642" @@ -73134,8 +73134,8 @@ "Wikipedia:Otic_placode" "FMA:293973" "EMAPA:16195" - "NCIT:C34239" "VHOG:0000235" + "NCIT:C34239" "XAO:0000223" "EHDAA:506" "EFO:0003429" @@ -73664,6 +73664,16 @@ "GO:0005623\n" "KUPO:0000002" "UMLS:C0854107" + "RRID:CVCL_R864" + "OMIM:617393" + "UMLS:C4479333" + "Orphanet:500545" + "MEDGEN:1377894" + "GARD:17930" + "Orphanet:424975" + "MEDGEN:1668494" + "UMLS:C4749400" + "GARD:21789" "OMIM:602535" "ICD10:Q87.3" "MeSH:C536026" @@ -73679,16 +73689,6 @@ "MEDGEN:57993" "MedDRA:10020041" "MONDO:0006559" - "RRID:CVCL_R864" - "OMIM:617393" - "UMLS:C4479333" - "Orphanet:500545" - "MEDGEN:1377894" - "GARD:17930" - "Orphanet:424975" - "MEDGEN:1668494" - "UMLS:C4749400" - "GARD:21789" "JAX:004435" "NANDO:1200317" "OMIM:274150" @@ -73831,10 +73831,10 @@ "MONDO:0021183" "FMA:84643" "FMA:84645" - "PMID:29875488" "UMLS:C5543635" "OMIM:619426" "MEDGEN:1785087" + "PMID:29875488" "PMID:35995766" "PMID:33634981" "NCIT:C102570" @@ -73948,9 +73948,9 @@ "DOID:13924" "ICD9:101" "NCIt:C34637" + "PMID:28240269" "MeSH:D015325" "DOID:3649" - "PMID:28240269" "NCIt:C19263" "ERO:0001242" "OMIM:611819" @@ -74424,8 +74424,6 @@ "UMLS:C4693550" "MEDGEN:1633749" "OMIM:617904" - "GARD:20383" - "Orphanet:207021" "KEGG:D00512" "NCIt:C741" "CiteXplore:7602118" @@ -74454,6 +74452,8 @@ "MeSH:D010672" "PMID:9186244" "PMID:15744730" + "GARD:20383" + "Orphanet:207021" "PMID:33634981" "RRID:CVCL_3959" "BTO:0002216" @@ -74577,13 +74577,13 @@ "NORD:1624" "Wikipedia:Incongenita_pigmenti" "DOID:12305" + "NCIt:C17941" + "ICD10:Z58" "NCIT:C4807" "SCTID:189164002" "MEDGEN:154239" "DOID:6112" "UMLS:C0542564" - "NCIt:C17941" - "ICD10:Z58" "MEDGEN:45205" "SCTID:78097002" "UMLS:C0029089" @@ -74732,15 +74732,15 @@ "MEDGEN:97989" "OMIM:613912" "SCTID:234607008" - "MEDGEN:344606" - "MESH:C538386" - "OMIM:239711" - "UMLS:C1855903" "UMLS:C4509816" "SCTID:723301009" "NCIT:C133254" "MEDGEN:1383559" "DOID:0080521" + "MEDGEN:344606" + "MESH:C538386" + "OMIM:239711" + "UMLS:C1855903" "PMID:29875488" "DOID:0111772" "MEDGEN:483746" @@ -74885,7 +74885,6 @@ "MEDGEN:310947" "UMLS:C1708771" "NCIT:C45636" - "PMID:24816252" "MEDGEN:331326" "UMLS:C1832615" "SCTID:715218009" @@ -74894,6 +74893,7 @@ "Orphanet:417" "OMIM:239200" "GARD:2838" + "PMID:24816252" "OMIM:618912" "DOID:0081427" "UMLS:C5394466" @@ -75237,11 +75237,11 @@ "Wikipedia:Carbuncle" "MedDRA:10007247" "DOID:2176" - "DOID:0080655" - "OMIMPS:612286" "OMIM:312870" "ICD10:Q87.3" "MeSH:C537340" + "DOID:0080655" + "OMIMPS:612286" "UMLS:C3553929" "NCIT:C155752" "OMIM:614859" @@ -75476,6 +75476,9 @@ "UMLS:C5676885" "OMIM:301081" "MEDGEN:1811268" + "UMLS:C1842531" + "OMIM:608105" + "MeSH:C535499" "NCIt:C94335" "MedDRA:10034158" "OMIM:606349" @@ -75490,9 +75493,6 @@ "NCIT:C94335" "DOID:12399" "ICD9CM:312.31" - "UMLS:C1842531" - "OMIM:608105" - "MeSH:C535499" "ICD9:129" "MEDGEN:196662" "SNOMEDCT:56733003" @@ -75600,6 +75600,7 @@ "GARD:19035" "icd11.foundation:1695340384" "UMLS:C0036472" + "PMID:29875488" "PMID:24467472" "NCIt:C44406" "PMID:23091586" @@ -75616,7 +75617,6 @@ "NCIt:C25560" "PMID:24801489" "PMID:19559099" - "PMID:29875488" "ICD10:N46" "UMLS:C4289991" "GARD:20152" @@ -75625,6 +75625,7 @@ "NCIT:C128344" "RRID:CVCL_2537" "MeSH:D001915" + "PMID:28240269" "OMIM:278000" "UMLS:C0008384" "Orphanet:75234" @@ -75635,7 +75636,6 @@ "MEDGEN:40266" "GARD:12099" "DOID:14502" - "PMID:28240269" "SCTID:58557008" "Orphanet:268369" "icd11.foundation:187581000" @@ -75824,6 +75824,7 @@ "SNOMEDCT_US:48522003" "PMID:35347128" "RRID:CVCL_Z705" + "PMID:28240269" "MeSH:D011164" "SNOMEDCT:29094004" "SNOMEDCT:371628009" @@ -75831,7 +75832,6 @@ "DOID:13268" "ICD9:277.1" "PMID:29212900" - "PMID:28240269" "UMLS:C2112129" "UMLS:C4020865" "NCIt:C112934" @@ -76007,15 +76007,15 @@ "MEDGEN:1824060" "UMLS:C5774287" "PMID:35347128" + "NCIT:C36102" + "DOID:6901" + "UMLS:C1333992" + "MEDGEN:272713" "SCTID:3745000" "ICD9:327.30" "ICD10CM:G47.2" "NCIT:C95071" "MESH:D020178" - "NCIT:C36102" - "DOID:6901" - "UMLS:C1333992" - "MEDGEN:272713" "MEDGEN:371537" "UMLS:C1833321" "OMIM:600790" @@ -76163,7 +76163,6 @@ "icd11.foundation:1787577133" "GARD:20976" "Orphanet:268868" - "ICD10:Q87.8" "MESH:C535847" "DOID:0090119" "Orphanet:1071" @@ -76173,6 +76172,7 @@ "OMIM:106260" "SCTID:55821006" "NORD:738" + "ICD10:Q87.8" "UMLS:C1868773" "MEDGEN:1806599" "DOID:0050850" @@ -76409,11 +76409,11 @@ "MEDGEN:1755743" "UMLS:C5436552" "PMID:28447399" - "PMID:28240269" "MedDRA:10037765" "UMLS:C0206063" "MeSH:D017564" "SNOMEDCT:84004001" + "PMID:28240269" "PMID:24816252" "UMLS:C5676928" "MEDGEN:1802903" @@ -76478,7 +76478,6 @@ "MeSH:D010483" "ICD10:E72.8" "PMID:35347128" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03064&Product=CC" "MESH:C567703" "MEDGEN:413031" "Orphanet:92050" @@ -76487,6 +76486,7 @@ "GARD:10630" "SCTID:715669000" "OMIM:613217" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03064&Product=CC" "Reaxys:1744991" "Beilstein:1744991" "PMID:24755254" @@ -76665,14 +76665,8 @@ "UMLS:C0347481" "DOID:0060123" "MeSH:D005127" - "MeSH:D002607" - "UMLS:C0007959" - "MedDRA:10034699" - "OMIM:616155" - "MedDRA:10008414" - "OMIM:616233" - "OMIM:608895" - "ICD10:G60.0" + "MONDO:0005163" + "UMLS:C1855677" "UMLS:C0024224" "MESH:D008204" "EFO:1000339" @@ -76683,8 +76677,14 @@ "MONDO:0006282" "MEDGEN:6154" "SCTID:403986008" - "MONDO:0005163" - "UMLS:C1855677" + "MeSH:D002607" + "UMLS:C0007959" + "MedDRA:10034699" + "OMIM:616155" + "MedDRA:10008414" + "OMIM:616233" + "OMIM:608895" + "ICD10:G60.0" "PMID:29875488" "Reactome:R-HSA-71825" "Reactome:R-HSA-3262512" @@ -76822,6 +76822,7 @@ "MeSH:D042806" "SNOMEDCT:54915000" "NCIt:C86604" + "OMIM:606438" "ICD9:277.82" "GARD:5104" "OMIM:212140" @@ -76846,7 +76847,6 @@ "ICD9:292.89" "PMID:10718481" "PMID:10604729" - "OMIM:606438" "UMLS:C0003504" "ICD9:396.3" "MESH:D001022" @@ -77389,8 +77389,8 @@ "CALOHA:TS-2344" "MESH:D012886" "SCTID:110530005" - "NCIT:C12789" "EHDAA2:0000325" + "NCIT:C12789" "GAID:82" "Wikipedia:Skull" "FMA:46565" @@ -77607,12 +77607,12 @@ "UMLS:C1848172" "OMIM:300071" "GARD:15251" - "OMIM:607250" - "ICD10:G60.2" "MeSH:D009153" "Wikipedia:Mutagen" "NCIt:C672" "PMID:29875488" + "OMIM:607250" + "ICD10:G60.2" "PMID:29532581" "NCIt:C71624" "UMLS:C0931849" @@ -77938,8 +77938,8 @@ "SCTID:34742003" "MEDGEN:9375" "PMID:29535761" - "ZFA:0000212" "UMLS:C1836195" + "ZFA:0000212" "MEDGEN:394835" "UMLS:C2678482" "GARD:10300" @@ -78046,13 +78046,13 @@ "DOID:11126" "ICD9:287.4" "MEDGEN:509570" + "UMLS:C1839410" + "OMIM:312190" + "MeSH:C535281" "DOID:0070385" "UMLS:C5562018" "OMIM:619606" "MEDGEN:1794228" - "UMLS:C1839410" - "OMIM:312190" - "MeSH:C535281" "FBbt:00004482" "UMLS:C0279765" "NCIT:C8028" @@ -78096,8 +78096,8 @@ "GARD:15787" "SCTID:700463002" "NCIT:C119677" - "MESH:C565768" "DOID:0060602" + "MESH:C565768" "MEDGEN:482058" "NCIt:C119677" "NANDO:1200768" @@ -78557,6 +78557,10 @@ "UMLS:C0014038" "SNOMEDCT_US:45170000" "NCIt:C105555" + "MedDRA:10057078" + "DOID:3876" + "MedDRA:10024233" + "MeSH:D003112" "UMLS:C5779613" "OMIMPS:617468" "DOID:0080954" @@ -78567,10 +78571,6 @@ "GARD:777" "MEDGEN:1830310" "PMID:28240269" - "MedDRA:10057078" - "DOID:3876" - "MedDRA:10024233" - "MeSH:D003112" "MEDGEN:4928" "SCTID:405950009" "HP:0011919" @@ -78657,8 +78657,6 @@ "MEDGEN:899839" "DOID:0112025" "UMLS:C4225416" - "Wikipedia:Sasang_typology" - "PMID:25888059" "NANDO:2100003" "NCIT:C3247" "Orphanet:52688" @@ -78681,6 +78679,8 @@ "GARD:7132" "MedDRA:10028532" "GARD:0007132" + "Wikipedia:Sasang_typology" + "PMID:25888059" "UMLS:C3203657" "MEDGEN:1388012" "SCTID:724809006" @@ -79240,8 +79240,6 @@ "PMID:10604729" "BTO:0005390" "CLO:0037189" - "KEGG COMPOUND:C06425" - "HMDB:0002212" "ICD10:K37" "MeSH:D001064" "ICD9:541" @@ -79257,6 +79255,8 @@ "MedDRA:10003014" "UMLS:C0003615" "PMID:35347128" + "KEGG COMPOUND:C06425" + "HMDB:0002212" "PMID:35347128" "VHOG:0000328" "BTO:0001703" @@ -79333,8 +79333,8 @@ "GAID:320" "EHDAA2:0001919" "SCTID:362139007" - "Wikipedia:Fundus_(stomach)" "MESH:D005748" + "Wikipedia:Fundus_(stomach)" "EHDAA:4844" "MA:0001612" "BTO:0000502" @@ -80338,6 +80338,8 @@ "MEDGEN:508043" "SCTID:238525001" "UMLS:C0031736" + "OMIM:164310" + "ICD10:G71.0" "GARD:4582" "NANDO:1200750" "NANDO:1200746" @@ -80350,8 +80352,6 @@ "OMIMPS:265120" "SNOMEDCT:75777003" "NCIt:C20464" - "OMIM:164310" - "ICD10:G71.0" "MONDO:0005554" "UMLS:C0009326" "MESH:D012216" @@ -80670,6 +80670,9 @@ "PBA:4001" "NCIT:C12447" "OMIM:615688" + "NCIt:C12594" + "BTO:0001780" + "FMA:62901" "DOID:4927" "MESH:D018285" "MEDGEN:61664" @@ -80684,9 +80687,6 @@ "Orphanet:99978" "MONDO:0003345" "UMLS:C0206702" - "NCIt:C12594" - "BTO:0001780" - "FMA:62901" "ICD10:Q10.3" "GARD:20804" "UMLS:C5679663" @@ -81296,18 +81296,18 @@ "GARD:20560" "Orphanet:226292" "PMID:35347128" + "PMID:24816252" "EHDAA:8279" "Wikipedia:Biceps_brachii_muscle" "UMLS:C0559499" "NCIT:C32200" - "EHDAA2:0000167" "MA:0002269" + "EHDAA2:0000167" "EMAPA:19108" "VHOG:0000861" "FMA:37670" "SCTID:265802004" "BTO:0003419" - "PMID:24816252" "PMID:28240269" "Orphanet:98669" "SCTID:449866003" @@ -81327,6 +81327,7 @@ "LIPID_MAPS_instance:LMFA07070006" "PMID:12385891" "Reaxys:4145305" + "HMDB:0032173" "MEDGEN:409967" "UMLS:C1970009" "Orphanet:171622" @@ -81339,7 +81340,6 @@ "NANDO:2200127" "NANDO:2100193" "NANDO:2200654" - "HMDB:0032173" "PMID:20924354" "MEDGEN:234775" "GARD:4768" @@ -81389,10 +81389,10 @@ "MEDGEN:1813021" "OMIM:138770" "ICD10:Q87.8" - "PMID:29875488" "SNOMEDCT:39473003" "NCIt:C14378" "MeSH:D011425" + "PMID:29875488" "PMID:29875488" "MESH:D056828" "GARD:16935" @@ -81740,6 +81740,14 @@ "UMLS:C5774232" "OMIM:620075" "MEDGEN:1824005" + "ICD10CM:H60.4" + "UMLS:C0155398" + "MONDO:0006532" + "MEDGEN:509952" + "DOID:9462" + "ICD9:380.21" + "MedDRA:10008644" + "SCTID:35247001" "BM:Tel-Cx-Cg" "Wikipedia:Cingulate_cortex" "NCIT:C52713" @@ -81753,14 +81761,6 @@ "MA:0000904" "NCIt:C84420" "MedDRA:10012661" - "ICD10CM:H60.4" - "UMLS:C0155398" - "MONDO:0006532" - "MEDGEN:509952" - "DOID:9462" - "ICD9:380.21" - "MedDRA:10008644" - "SCTID:35247001" "UMLS:C0043037" "DOID:11165" "ICD9:078.19" @@ -81855,13 +81855,13 @@ "MEDGEN:234305" "PMID:30475886" "PMID:29875488" + "OMIM:601370" + "UMLS:C1832424" + "ICD10:Q04.2" "PMID:36168886" "PMID:28011148" "Orphanet:307995" "GARD:21298" - "OMIM:601370" - "UMLS:C1832424" - "ICD10:Q04.2" "NCIt:C139267" "MONDO:0006758" "MESH:D014384" @@ -82319,10 +82319,10 @@ "BTO:0000567" "RRID:CVCL_0030" "CLO:0003684" + "PMID:29875488" "icd11.foundation:2087939516" "Orphanet:156212" "GARD:19995" - "PMID:29875488" "MEDGEN:234456" "NCIT:C6155" "DOID:4938" @@ -82373,8 +82373,8 @@ "PMID:35995766" "DOID:0050855" "SNOMEDCT:197660000" - "MONDO:0000494" "HP:0030760" + "MONDO:0000494" "SCTID:197660000" "MEDGEN:508798" "MP:0003985" @@ -82979,8 +82979,8 @@ "OMIM:235740" "ICD10:Q43.1" "SNOMEDCT:409969007" - "PMID:24816252" "ZFA:0009188" + "PMID:24816252" "PMID:31413141" "Orphanet:435934" "OMIM:617395" @@ -83012,13 +83012,13 @@ "SNOMEDCT:441033001" "PMID:29875488" "PMID:29875488" + "RRID:CVCL_0581" + "BTO:0002584" "OMIM:617174" "MEDGEN:934648" "UMLS:C4310681" "DOID:0080987" "GARD:16209" - "RRID:CVCL_0581" - "BTO:0002584" "ICDO:8713/1" "Orphanet:289685" "UMLS:C1302808" @@ -83719,9 +83719,9 @@ "PMID:31776335" "PMID:36168886" "ICD10:Q71.8" + "PMID:29875488" "Orphanet:444077" "OMIM:616368" - "PMID:29875488" "Orphanet:3323" "UMLS:C2931364" "MESH:C536898" @@ -84249,12 +84249,12 @@ "MESH:D005158" "DOID:13934" "SCTID:280816001" + "PMID:35995766" "PMID:15896368" "KEGG:C15801" "KNApSAcK:C00007278" "PMID:17138693" "Beilstein:7382071" - "PMID:35995766" "MEDGEN:930808" "UMLS:C4305139" "GARD:19063" @@ -84327,6 +84327,9 @@ "MEDGEN:234167" "DOID:5421" "UMLS:C1333125" + "MEDGEN:1798084" + "DOID:0080009" + "UMLS:C5566661" "UMLS:C0037199" "SCTID:36971009" "ICD9:461" @@ -84340,9 +84343,6 @@ "DOID:0050127" "ICD9:461.9" "MESH:D012852" - "MEDGEN:1798084" - "DOID:0080009" - "UMLS:C5566661" "PMID:30053915" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02885&Product=CC" "UMLS:C0007461" @@ -84508,6 +84508,9 @@ "DOID:0050637" "Orphanet:85448" "OMIM:105120" + "OMIM:619609" + "UMLS:C5562020" + "MEDGEN:1794230" "NCIt:C40157" "ICD9:621.34" "UMLS:C1516855" @@ -84515,9 +84518,6 @@ "MONDO:0006193" "NCIT:C40157" "SCTID:134031000119108" - "OMIM:619609" - "UMLS:C5562020" - "MEDGEN:1794230" "SCTID:23414001" "MEDGEN:82859" "NCIT:C27062" @@ -84575,8 +84575,8 @@ "NCIt:C26911" "MP:0003541" "MedDRA:10046950" - "MeSH:D014627" "DOID:2170" + "MeSH:D014627" "MeSH:D048230" "SNOMEDCT:89651003" "PMID:29875488" @@ -84924,17 +84924,6 @@ "SCTID:717337001" "MEDGEN:318965" "Orphanet:98606" - "UMLS:C0042580" - "MEDGEN:21852" - "MESH:D014718" - "HP:0000076" - "ICD9:593.7" - "DOID:9620" - "NANDO:2200179" - "MeSH:D014718" - "SCTID:197811007" - "MONDO:0006007" - "MedDRA:10047371" "MESH:D020190" "OMIM:254770" "MedDRA:10071082" @@ -84949,11 +84938,21 @@ "ICD9:345.10" "icd11.foundation:1014397110" "NCIT:C84796" + "UMLS:C0042580" + "MEDGEN:21852" + "MESH:D014718" + "HP:0000076" + "ICD9:593.7" + "DOID:9620" + "NANDO:2200179" + "MeSH:D014718" + "SCTID:197811007" + "MONDO:0006007" + "MedDRA:10047371" "Orphanet:363618" "GARD:21555" "UMLS:C4750858" "MEDGEN:1667690" - "ChemIDplus:67227-56-9 \"CAS Registry Number\"" "DrugBank:DB00800" "KEGG:D07946" "Patent:DE2751258" @@ -84972,6 +84971,7 @@ "SNOMEDCT:108590002" "NCIt:C61759" "CAS:67227-56-9" + "ChemIDplus:67227-56-9 \"CAS Registry Number\"" "MedDRA:100233350" "MESH:D007638" "SCTID:46152009" @@ -85094,8 +85094,8 @@ "Orphanet:137834" "SCTID:720958002" "DOID:0111789" - "PMID:22369889" "PMID:27897270" + "PMID:22369889" "OMIM:604416" "MeSH:C536253" "UMLS:C3280315" @@ -85403,8 +85403,8 @@ "NCIt:C84888" "SCTID:58437007" "MEDGEN:21725" - "GARD:7828" "NCIT:C84888" + "GARD:7828" "UMLS:C0041318" "MESH:D014390" "Reaxys:635680" @@ -85611,9 +85611,9 @@ "DOID:0080240" "OMIM:300997" "UMLS:C4478379" + "PMID:29875488" "Orphanet:420733" "OMIM:615918" - "PMID:29875488" "MESH:C536900" "HGNC:11784" "UMLS:C2931365" @@ -85641,6 +85641,7 @@ "OMIM:612336" "MedDRA:10068370" "Orphanet:26349" + "PMID:29875488" "GARD:15088" "UMLS:C1834671" "MEDGEN:320405" @@ -85649,13 +85650,12 @@ "NCIT:C172705" "DOID:0111193" "ICD10:S27" - "PMID:29875488" "PMID:24816252" + "PMID:28240269" "GARD:20110" "UMLS:C5191057" "MEDGEN:1676191" "Orphanet:168999" - "PMID:28240269" "GARD:15844" "OMIM:614819" "MEDGEN:766699" @@ -85847,8 +85847,8 @@ "OMIM:618369" "MONDO:0003264" "SCTID:254702000" - "DOID:5063" "NCIT:C2922" + "DOID:5063" "ICDO:8094/3" "MESH:D002281" "UMLS:C0007118" @@ -86391,13 +86391,13 @@ "PMID:29875488" "OMIM:606071" "ICD10:G60.0" + "MO:471" + "NCIt:C54694" "OMIM:618418" "UMLS:C5193084" "Orphanet:631068" "MEDGEN:1682111" "DOID:0112341" - "MO:471" - "NCIt:C54694" "DOID:0111621" "OMIM:218340" "Orphanet:1777" @@ -86843,6 +86843,8 @@ "SNOMEDCT:440659006" "CiteXplore:11872840 \"PubMed citation\"" "PMID:11872840" + "Orphanet:271841" + "UMLS:CN202528" "MedDRA:10010652" "MESH:D014125" "GARD:18708" @@ -86881,8 +86883,6 @@ "OMIMPS:254780" "SCTID:230425004" "UMLS:C0751783" - "Orphanet:271841" - "UMLS:CN202528" "UMLS:C0151740" "MeSH:D019586" "NCIt:C84791" @@ -86943,14 +86943,14 @@ "Orphanet:2783" "MEDGEN:335932" "ICD10:Q87.8" - "MeSH:C536017" - "UMLS:C0220685" - "OMIM:200610" - "ICD10:Q77.0" "UMLS:C0861861" "DOID:5537" "NCIT:C5777" "MEDGEN:209017" + "MeSH:C536017" + "UMLS:C0220685" + "OMIM:200610" + "ICD10:Q77.0" "PMID:25934476" "MO:676" "MEDGEN:411554" @@ -87531,9 +87531,9 @@ "CLO:0009017" "RRID:CVCL_0032" "BTO:0002210" - "PMID:28240269" "UMLS:C3277849" "MEDGEN:479479" + "PMID:28240269" "Orphanet:98959" "OMIM:612867" "UMLS:C2748503" @@ -87568,6 +87568,9 @@ "OMIM:300932" "ICD10:Q87.8" "OMIM:300475" + "UMLS:C0796081" + "OMIM:139210" + "ICD10:Q87.8" "SCTID:723361006" "Orphanet:338" "GARD:3831" @@ -87576,9 +87579,6 @@ "DOID:5591" "SCTID:254709009" "NCIT:C27254" - "UMLS:C0796081" - "OMIM:139210" - "ICD10:Q87.8" "UMLS:C5676926" "MEDGEN:1804752" "OMIM:619764" @@ -87721,10 +87721,6 @@ "UMLS:C0206713" "MESH:D018300" "NANDO:1200181" - "MEDGEN:234290" - "DOID:5140" - "UMLS:C1333745" - "NCIT:C5747" "GAID:950" "MA:0000137" "EFO:0001381" @@ -87735,6 +87731,10 @@ "NCIT:C12771" "CALOHA:TS-0780" "MESH:D010581" + "MEDGEN:234290" + "DOID:5140" + "UMLS:C1333745" + "NCIT:C5747" "OMIM:300706" "ICD10:Q87.8" "PMID:29875488" @@ -87858,7 +87858,6 @@ "ICDO:8140/3" "SCTID:443961001" "MEDGEN:122" - "ZFS:0000032" "OMIM:611283" "NCIT:C129975" "MEDGEN:370754" @@ -87866,6 +87865,7 @@ "GARD:10223" "Orphanet:79159" "UMLS:C1969809" + "ZFS:0000032" "NCIt:C64489" "SNOMEDCT:397798009" "PMID:24816252" @@ -87873,9 +87873,9 @@ "MEDGEN:1798945" "UMLS:C5567522" "Orphanet:480898" - "NIF_Subcellular:sao830981606" "ICD10:G24.1" "OMIM:612953" + "NIF_Subcellular:sao830981606" "MEDGEN:482032" "OMIM:614305" "DOID:0060757" @@ -87990,8 +87990,6 @@ "GARD:20844" "Orphanet:262201" "ZFA:0000711" - "SNOMEDCT_US:84445001" - "UMLS:C0162298" "MeSH:D005352" "NCIt:C84714" "MONDO:0006761" @@ -88005,6 +88003,8 @@ "NCIT:C84714" "Orphanet:336" "UMLS:C0016052" + "SNOMEDCT_US:84445001" + "UMLS:C0162298" "Orphanet:261183" "GARD:10525" "OMIM:615656" @@ -88312,6 +88312,7 @@ "EFO:1000236" "NCIT:C40144" "UMLS:C4025138" + "MeSH:D058256" "MolBase:931" "Wikipedia:Ozone" "PMID:23517299" @@ -88346,7 +88347,6 @@ "PMID:19723209" "PMID:18699586" "PMID:17674823" - "MeSH:D058256" "PMID:20421314" "PMID:28240269" "OMIM:601353" @@ -88356,8 +88356,8 @@ "Orphanet:1272" "SCTID:720955004" "UMLS:C0795941" - "FMA:23466" "SCTID:181948009" + "FMA:23466" "VSAO:0005013" "UMLS:C0041600" "GAID:188" @@ -88434,8 +88434,6 @@ "ICD10CM:H35.5" "OMIM:276902" "MEDGEN:1830415" - "OMIM:203750" - "ICD10:E71.1" "PMID:23823483" "SCTID:47523006" "MESH:D020241" @@ -88452,6 +88450,8 @@ "MedDRA:10047915" "UMLS:C0153064" "NCIT:C85227" + "OMIM:203750" + "ICD10:E71.1" "OMIM:618619" "PMID:28067912" "PMID:28240269" @@ -88858,9 +88858,6 @@ "SCTID:37102008" "MedDRA:10033143" "MONDO:0001889" - "SNOMEDCT_US:229844004" - "UMLS:C0016506" - "ICD10:Q66" "ICD9:301.6" "DOID:10931" "ICD10CM:F60.7" @@ -88869,6 +88866,9 @@ "SCTID:84466009" "NCIT:C92637" "UMLS:C0011548" + "SNOMEDCT_US:229844004" + "UMLS:C0016506" + "ICD10:Q66" "RRID:CVCL_1218" "BTO:0003233" "CLO:0002993" @@ -89442,7 +89442,6 @@ "NCIT:C7317" "PMID:37164013" "PMID:29875488" - "ZFS:0000027" "DrugBank:DB02656" "PMID:10638524" "PMID:26424017" @@ -89459,6 +89458,7 @@ "KEGG:C15195" "PDBeChem:LY2" "PMID:24666011" + "ZFS:0000027" "UMLS:C0010078" "MEDGEN:40491" "MeSH:D003333" @@ -89473,8 +89473,6 @@ "ICD10:Q99.8" "GARD:20421" "Orphanet:209024" - "OMIM:109500" - "ICD10:Q75.8" "MEDGEN:209234" "SCTID:237914002" "DOID:0090106" @@ -89484,6 +89482,8 @@ "MESH:C535325" "GARD:5682" "UMLS:C0878676" + "OMIM:109500" + "ICD10:Q75.8" "OMIM:251900" "MeSH:D017240" "OMIM:616209" @@ -89943,13 +89943,6 @@ "Orphanet:238670" "MEDGEN:113137" "OMIM:275120" - "MEDGEN:811490" - "SCTID:723826007" - "UMLS:C3714897" - "DOID:0110809" - "OMIM:615658" - "GARD:17712" - "Orphanet:431329" "UMLS:C0398788" "NANDO:2200708" "DOID:0090007" @@ -89962,6 +89955,13 @@ "GARD:2945" "FMA:69071" "BTO:0000800" + "MEDGEN:811490" + "SCTID:723826007" + "UMLS:C3714897" + "DOID:0110809" + "OMIM:615658" + "GARD:17712" + "Orphanet:431329" "PMID: 31636452" "MESH:C567206" "UMLS:C2675210" @@ -90290,8 +90290,8 @@ "SCTID:269515006" "PMID:35347128" "ZFA:0000904" - "ZFS:0000030" "PMID:29875488" + "ZFS:0000030" "NCIt:C61015" "PMID:35347128" "OMIM:615360" @@ -90524,6 +90524,7 @@ "DOID:5634" "NCIT:C5538" "UMLS:C1335503" + "PMID:35995766" "ICD10CM:N80.5" "UMLS:C0156347" "MEDGEN:510251" @@ -90553,7 +90554,6 @@ "MeSH:D002437" "PMID:22011388" "Wikipedia:Cefazolin" - "PMID:35995766" "GARD:18551" "NANDO:2200791" "OMIM:609814" @@ -90925,9 +90925,9 @@ "ICD10:H18.5" "UMLS:C1857572" "MeSH:C535473" + "PMID:29875488" "UMLS:C0267557" "SNOMEDCT_US:15699003" - "PMID:29875488" "CAS:14402-89-2" "PMID:25425768" "NCIT:C140268" @@ -91174,7 +91174,6 @@ "BTO:0003807" "CLO:0001980" "PMID:29875488" - "PMID:29875488" "OMIM:611369" "DOID:0060653" "SCTID:715420005" @@ -91191,6 +91190,7 @@ "ICD9:759.89" "OMIM:604168" "MEDGEN:346973" + "PMID:29875488" "GARD:15763" "UMLS:C3279992" "MEDGEN:481622" @@ -91203,6 +91203,7 @@ "NCIt:C4778" "MedDRA:10056780" "MedDRA:10004336" + "OMIM:309583" "MeSH:D052198" "SNOMEDCT:23029008" "MedDRA:10064212" @@ -91221,7 +91222,6 @@ "NANDO:1200456" "MEDGEN:83318" "MESH:D057765" - "OMIM:309583" "PMID:24816252" "PMID:31005972" "UMLS:C1333014" @@ -91261,7 +91261,6 @@ "DOID:9574" "UMLS:C0008297" "MESH:D002754" - "PMID:29875488" "MESH:C538173" "GARD:8605" "DOID:0080941" @@ -91269,6 +91268,7 @@ "UMLS:C2931758" "icd11.foundation:1078767412" "MEDGEN:419486" + "PMID:29875488" "OMIM:607475" "ICD10:H35.5" "SNOMEDCT:360470001" @@ -91330,10 +91330,10 @@ "SNOMEDCT:68566005" "MeSH:D014552" "MONDO:0100338" + "PMID:23823483" "UMLS:C0206081" "NCIt:C113215" "MedDRA:10065597" - "PMID:23823483" "SCTID:244823009" "NCIT:C32753" "EHDAA2:0000794" @@ -91367,13 +91367,13 @@ "GARD:22669" "OMIM:300143" "MEDGEN:1790509" - "PMID:37164013" "PMID:29875488" - "PMID:34815255" + "PMID:37164013" "NCIT:C40277" "UMLS:C1519914" "MEDGEN:274378" "DOID:4117" + "PMID:34815255" "PMID:23823483" "MONDO:0005719" "MESH:D018352" @@ -91900,7 +91900,6 @@ "Orphanet:280615" "MEDGEN:1683555" "UMLS:C5190689" - "PMID:29875488" "MEDGEN:1823962" "OMIM:619981" "UMLS:C5774189" @@ -91916,6 +91915,7 @@ "HMDB:HMDB0000118" "CAS:306-08-1" "PMID:24423636" + "PMID:29875488" "PMID:35347128" "Orphanet:449" "DOID:687" @@ -92446,6 +92446,10 @@ "MEDGEN:358131" "SCTID:722105002" "RRID:CVCL_0G05" + "Orphanet:394529" + "MEDGEN:1842925" + "UMLS:C5680029" + "GARD:17626" "CLO:0002176" "BTO:0003204" "CLO:0002175" @@ -92454,10 +92458,6 @@ "OMIM:619787" "UMLS:C2608084" "MEDGEN:382015" - "Orphanet:394529" - "MEDGEN:1842925" - "UMLS:C5680029" - "GARD:17626" "PMID:35347128" "MEDGEN:383079" "SCTID:711482008" @@ -93250,8 +93250,8 @@ "NCIT:C3242" "ICD10:C90.00" "Orphanet:29073" - "GO:0004336" "PMID:35347128" + "GO:0004336" "MedDRA:10065551" "ICD10:F01.1" "OMIM:125310" @@ -93289,12 +93289,12 @@ "UMLS:C4023588" "PMID:35347128" "PMID:29875488" + "MeSH:D012285" + "SNOMEDCT:114233001" "DOID:14150" "MEDGEN:236836" "NCIT:C5157" "UMLS:C1336044" - "MeSH:D012285" - "SNOMEDCT:114233001" "MEDGEN:1802087" "UMLS:C5676908" "OMIM:619725" @@ -93544,13 +93544,13 @@ "UMLS:C1854301" "PMID:37164013" "PMID:29875488" + "PMID:23823483" "UMLS:C1333097" "Orphanet:100080" "GARD:19755" "NCIT:C5697" "DOID:4118" "MEDGEN:234162" - "PMID:23823483" "SCTID:70090004" "MESH:D015605" "ICD9:051.01" @@ -94254,9 +94254,6 @@ "SCTID:277569004" "ICDO:9768/1" "PMID:33634981" - "SNOMEDCT:258066000" - "MeSH:D016133" - "NCIt:C17003" "EV:0100151" "FMA:72979" "MA:0000014" @@ -94269,6 +94266,9 @@ "FBbt:00004856" "EMAPA:17524" "EHDAA:6520" + "SNOMEDCT:258066000" + "MeSH:D016133" + "NCIt:C17003" "NCIt:C53147" "MEDGEN:39310" "NCIT:C35142" @@ -94756,12 +94756,12 @@ "MEDGEN:1840908" "PMID:35347128" "PMID:33634981" - "OMIM:602089" - "ICD10:D18.0" "PO:0004525" "MAT:0000365" "SNOMEDCT:9784002" "NCIt:C86754" + "OMIM:602089" + "ICD10:D18.0" "MEDGEN:767031" "OMIM:614929" "GARD:18065" @@ -95168,12 +95168,12 @@ "UMLS:C5575335" "MEDGEN:1806238" "UMLS:C4024216" - "ICD10:N43" - "MeSH:D006848" "MEDGEN:1668571" "Orphanet:401935" "UMLS:C4750911" "GARD:21706" + "ICD10:N43" + "MeSH:D006848" "SCTID:254856004" "MONDO:0006477" "MEDGEN:83410" @@ -95209,6 +95209,13 @@ "UMLS:C0268669" "DOID:0070317" "Orphanet:181425" + "SCTID:733473000" + "Orphanet:96078" + "MEDGEN:462058" + "OMIM:613458" + "DOID:0060431" + "UMLS:C3150708" + "GARD:10755" "CiteXplore:21976715" "PMID:21976715" "PMID:11170513" @@ -95243,13 +95250,6 @@ "PMID:20078085" "PMID:12140173" "CiteXplore:3507253" - "SCTID:733473000" - "Orphanet:96078" - "MEDGEN:462058" - "OMIM:613458" - "DOID:0060431" - "UMLS:C3150708" - "GARD:10755" "OMIM:600457" "Orphanet:3387" "SCTID:717963001" @@ -95463,6 +95463,14 @@ "PMID:37253714" "GARD:21548" "Orphanet:363314" + "SCTID:254849005" + "MEDGEN:577291" + "DOID:2151" + "Orphanet:398934" + "UMLS:C0346161" + "NCIT:C40026" + "MESH:C538090" + "GARD:9362" "PMID:20188778" "Reaxys:774114" "PMID:18564856" @@ -95474,14 +95482,6 @@ "PMID:22770225" "CAS:543-24-8" "PDBeChem:AAC" - "SCTID:254849005" - "MEDGEN:577291" - "DOID:2151" - "Orphanet:398934" - "UMLS:C0346161" - "NCIT:C40026" - "MESH:C538090" - "GARD:9362" "PMID:19443021" "Gmelin:329225" "PMID:25568069" @@ -95646,8 +95646,8 @@ "EFO:1000471" "MONDO:0006366" "UMLS:C1335398" - "MEDGEN:233323" "NCIT:C36205" + "MEDGEN:233323" "PMID:25387704" "MEDGEN:227001" "GARD:19168" @@ -95778,7 +95778,6 @@ "PMID:22308371" "Reaxys:90754" "HMDB:HMDB0039229" - "PMID:35347128" "GARD:6544" "SCTID:402355000" "icd11.foundation:83784921" @@ -95789,6 +95788,7 @@ "Orphanet:99920" "UMLS:C0856825" "MEDGEN:208987" + "PMID:35347128" "Orphanet:98555" "GARD:19493" "ICD10:E34.8" @@ -95834,6 +95834,7 @@ "PMID:24816252" "OMIM:137763" "MeSH:D060750" + "PMID:33713409" "FMA:83036" "MESH:D003713" "BTO:0002042" @@ -95848,10 +95849,9 @@ "Orphanet:261304" "GARD:20777" "MEDGEN:1390091" - "PMID:33713409" - "SNOMEDCT:434537005" "UMLS:C0266312" "NCIt:C103918" + "SNOMEDCT:434537005" "Orphanet:79316" "GARD:4278" "OMIM:261680" @@ -95867,7 +95867,6 @@ "DOID:2978" "MedDRA:10061023" "MEDGEN:2825" - "PMID:29875488" "DOID:0050336" "NCIT:C37977" "SCTID:4996001" @@ -95875,11 +95874,12 @@ "MEDGEN:39327" "UMLS:C0085682" "MESH:D017674" + "PMID:29875488" + "MEDGEN:76097" "UMLS:C0280328" "SCTID:707427000" "NCIT:C8188" "DOID:3752" - "MEDGEN:76097" "NCIt:C87304" "MedDRA:10062762" "SNOMEDCT:446841001" @@ -96026,11 +96026,11 @@ "OMIM:219080" "DOID:0111623" "MEDGEN:347456" + "PMID:29875488" "MEDGEN:1385982" "MESH:D005177" "UMLS:C4316906" "NANDO:2200681" - "PMID:29875488" "NCIt:C40168" "DOID:11723" "MeSH:D020388" @@ -96139,9 +96139,9 @@ "UMLS:C2930978" "GARD:4709" "MESH:C535675" - "FMA:83552" "ICD10:E75.4" "OMIM:610951" + "FMA:83552" "PMID:29875488" "PMID:23937694" "CiteXplore:20374023" @@ -96985,6 +96985,11 @@ "MeSH:D058747" "UMLS:C0265354" "WBls:0000015" + "GARD:20586" + "SCTID:19726003" + "Orphanet:228285" + "MEDGEN:590500" + "UMLS:C0406549" "MEDGEN:162919" "Orphanet:3409" "GARD:5426" @@ -96992,11 +96997,6 @@ "MESH:C538276" "OMIM:264010" "UMLS:C0796189" - "GARD:20586" - "SCTID:19726003" - "Orphanet:228285" - "MEDGEN:590500" - "UMLS:C0406549" "UMLS:C3279791" "OMIM:614090" "MEDGEN:481421" @@ -97489,20 +97489,20 @@ "MEDGEN:1824084" "UMLS:C5774311" "OMIM:620010" + "NCIt:C7282" "PMID:33634981" "UMLS:C5681015" "Orphanet:284993" "MEDGEN:1842966" "GARD:21129" - "NCIt:C7282" "MO:663" "ICD10:N46" "OMIM:300911" "OMIM:300884" "ICD10:E77.8" + "PMID:31005972" "PMID:37253714" "SNOMEDCT:20846006" - "PMID:31005972" "UMLS:C0008625" "MeSH:D002869" "MedDRA:10007982" @@ -97690,15 +97690,15 @@ "MedDRA:10001174" "NCIT:C9385" "NCIt:C117160" + "UMLS:C1520099" + "MEDGEN:311490" + "NCIT:C40311" + "DOID:2064" "OMIM:616126" "DOID:0111934" "MEDGEN:863730" "UMLS:C4015293" "Orphanet:319563" - "UMLS:C1520099" - "MEDGEN:311490" - "NCIT:C40311" - "DOID:2064" "OMIM:162900" "UMLS:C0334082" "NCIT:C4088" @@ -97815,7 +97815,6 @@ "ICD10:Q82.1" "UMLS:C1848410" "MeSH:C536766" - "PMID:29875488" "SCTID:233604007" "UMLS:C0032285" "MedDRA:10035664" @@ -97835,6 +97834,7 @@ "SNOMEDCT:233604007" "MEDGEN:10813" "MESH:D011014" + "PMID:29875488" "MONDO:0017332" "Orphanet:289478" "MO:933" @@ -98198,11 +98198,11 @@ "PMID:35668104" "UMLS:C4022736" "ZFA:0000131" - "PMID:29875488" "MEDGEN:235500" "DOID:10290" "NCIT:C5533" "UMLS:C1335512" + "PMID:29875488" "PMID:23823483" "UMLS:C1565489" "UMLS:C0035078" @@ -98436,8 +98436,8 @@ "UMLS:C4304022" "SCTID:720520009" "Orphanet:352723" - "PMID:23861383" "PMID:29875488" + "PMID:23861383" "icd11.foundation:1092479335" "GARD:12476" "Orphanet:309810" @@ -98472,13 +98472,13 @@ "Wikipedia:Ribulose_5-phosphate" "OMIM:603457" "ICD10:Q87.0" + "PMID:36006120" "PMID:23897579" "OMIM:613576" "GARD:17199" "Orphanet:247827" "UMLS:C3150809" "MEDGEN:462159" - "PMID:36006120" "PMID:19347970" "PMID:21930197" "Reaxys:85302" @@ -99026,6 +99026,7 @@ "GARD:3424" "UMLS:C0796038" "MEDGEN:162902" + "PMID:28628107" "SCTID:720519003" "UMLS:C1859596" "GARD:2279" @@ -99036,7 +99037,6 @@ "UMLS:C0149745" "SNOMEDCT_US:26284000" "OMIM:254780" - "PMID:28628107" "DOID:0110653" "GARD:15595" "UMLS:C2751830" @@ -99375,6 +99375,7 @@ "UMLS:C0007682" "UMLS:C4021765" "PMID:34565479" + "Wikipedia:Radial_nerve" "MA:0001171" "VHOG:0000896" "EMAPA:17278" @@ -99386,7 +99387,6 @@ "FMA:37069" "SCTID:181011002" "GAID:845" - "Wikipedia:Radial_nerve" "SCTID:49227001" "MEDGEN:1830326" "Orphanet:650" @@ -99802,8 +99802,8 @@ "UMLS:C1865572" "PMID:35347128" "PMID:29875488" - "PMID:29875488" "MedDRA:10081973" + "Orphanet:98558" "Gmelin:81842" "PMID:19846048" "Patent:US2535245" @@ -99831,7 +99831,7 @@ "PMID:22136129" "PMID:7767980" "NCIt:C44329" - "Orphanet:98558" + "PMID:29875488" "SNOMEDCT:162344009" "NCIt:C27644" "MedDRA:10011878" @@ -99906,11 +99906,11 @@ "OMIM:614616" "ICD10:P78.3" "MAT:0000518" - "PMID:24816252" "GARD:20426" "UMLS:C5680839" "MEDGEN:1842905" "Orphanet:209041" + "PMID:24816252" "SCTID:267395000" "GARD:20226" "Orphanet:181412" @@ -100160,6 +100160,12 @@ "SCTID:423709000" "MEDGEN:61616" "PMID:26068415" + "DOID:0050428" + "OMIM:616400" + "ICD10:Q82.8" + "OMIM:600231" + "OMIM:600962" + "OMIM:615735" "MEDGEN:45320" "UMLS:C0030472" "MESH:D010257" @@ -100178,16 +100184,6 @@ "UMLS:C1864825" "MEDGEN:400621" "Orphanet:264200" - "DOID:0050428" - "OMIM:616400" - "ICD10:Q82.8" - "OMIM:600231" - "OMIM:600962" - "OMIM:615735" - "RRID:CVCL_1649" - "CLO:0008770" - "BTO:0005377" - "CLO:0008693" "UMLS:C0030518" "XAO:0000167" "Wikipedia:Parathyroid_gland" @@ -100203,9 +100199,13 @@ "NCIT:C12765" "EV:0100134" "FMA:13890" - "MAT:0000082" "EMAPA:32812" "CALOHA:TS-0745" + "MAT:0000082" + "RRID:CVCL_1649" + "CLO:0008770" + "BTO:0005377" + "CLO:0008693" "PMID:25461247" "GARD:9442" "MedDRA:10053250" @@ -100279,10 +100279,10 @@ "MEDGEN:398225" "MESH:D005234" "PMID:29875488" - "PMID:33634981" "NCIt:C26693" "MedDRA:10002329" "ICD10:I72" + "PMID:33634981" "UMLS:C4317339" "Orphanet:1941" "SCTID:230413002" @@ -100322,6 +100322,13 @@ "NCIt:C12477" "FMA:54537" "BTO:0000099" + "SCTID:92272009" + "ICD9:227.1" + "MEDGEN:57814" + "UMLS:C0154041" + "NCIT:C3630" + "ICD10CM:D35.1" + "DOID:60008" "ICD10:E51.1" "ICD9:265.0" "MeSH:D001602" @@ -100335,13 +100342,6 @@ "MONDO:0006676" "SNOMEDCT:36656008" "MESH:D001602" - "SCTID:92272009" - "ICD9:227.1" - "MEDGEN:57814" - "UMLS:C0154041" - "NCIT:C3630" - "ICD10CM:D35.1" - "DOID:60008" "PMID:28240269" "MEDGEN:82998" "UMLS:C0278863" @@ -100350,18 +100350,6 @@ "PMID:23328393" "OMIM:615546" "OMIM:601390" - "NCIT:C34834" - "MeSH:D009230" - "UMLS:C0027145" - "MESH:D009230" - "MedDRA:10028663" - "MONDO:0009718" - "SNOMEDCT:43153006" - "NCIt:C34834" - "SCTID:43153006" - "OMIM:255900" - "MEDGEN:6506" - "DOID:11634" "PMID:35347128" "MeSH:C057823" "KEGG COMPOUND:89365-50-4" @@ -100389,6 +100377,18 @@ "KEGG DRUG:D05792" "RRID:CVCL_A280" "PMID:3719517" + "NCIT:C34834" + "MeSH:D009230" + "UMLS:C0027145" + "MESH:D009230" + "MedDRA:10028663" + "MONDO:0009718" + "SNOMEDCT:43153006" + "NCIt:C34834" + "SCTID:43153006" + "OMIM:255900" + "MEDGEN:6506" + "DOID:11634" "GARD:17455" "UMLS:C4755312" "DOID:0111477" @@ -101826,14 +101826,14 @@ "Patent:US2899436" "VSDB:2977" "CAS:68-88-2" - "MeSH:C535397" - "UMLS:C1832215" - "OMIM:601536" "PMID:29875488" "Orphanet:314572" "UMLS:C4749919" "MEDGEN:1654941" "GARD:21378" + "MeSH:C535397" + "UMLS:C1832215" + "OMIM:601536" "PMID:35383335" "OMIM:120200" "PMID:29875488" @@ -102017,8 +102017,6 @@ "Orphanet:1277" "GARD:5036" "UMLS:C4707567" - "Orphanet:319328" - "GARD:21420" "SCTID:54792008" "NCIT:C34591" "MedDRA:10015239" @@ -102028,6 +102026,8 @@ "ICD9:690.8" "ICD9:690" "UMLS:C0014747" + "Orphanet:319328" + "GARD:21420" "PMID:36206743" "ICD10CM:J98.2" "ICD9:518.1" @@ -102203,14 +102203,6 @@ "DOID:0060108" "UMLS:C0349661" "PMID:33634981" - "GARD:2542" - "UMLS:C0685838" - "OMIMPS:233400" - "Orphanet:2855" - "NORD:2031" - "SCTID:93466004" - "DOID:0050857" - "MEDGEN:151934" "MedDRA:10033273" "MEDGEN:14058" "DOID:0060112" @@ -102220,6 +102212,14 @@ "SCTID:92260003" "NCIt:C2895" "ICD10:D27" + "GARD:2542" + "UMLS:C0685838" + "OMIMPS:233400" + "Orphanet:2855" + "NORD:2031" + "SCTID:93466004" + "DOID:0050857" + "MEDGEN:151934" "ICD9:275.49" "MESH:D011556" "Orphanet:79445" @@ -102618,19 +102618,19 @@ "MEDGEN:1676839" "DOID:0111602" "UMLS:C5193098" - "PMID:29875488" - "Orphanet:70474" - "GARD:16685" "UMLS:C2931368" "MeSH:C536918" "OMIM:601027" + "PMID:29875488" + "Orphanet:70474" + "GARD:16685" + "MEDGEN:1759100" + "UMLS:C5436652" + "OMIM:619036" "EFO:0003594" "TAO:0000943" "VSAO:0000153" "ZFA:0000943" - "MEDGEN:1759100" - "UMLS:C5436652" - "OMIM:619036" "SNOMEDCT:300920004" "SCTID:371160000" "MONDO:0005269" @@ -102716,10 +102716,10 @@ "GARD:19517" "Orphanet:98623" "PMID:35347128" + "PMID:24816252" "RRID:CVCL_0620" "CLO:0007636" "BTO:0001569" - "PMID:24816252" "EFO:0000304" "MEDGEN:167809" "NCIT:C5214" @@ -102796,6 +102796,7 @@ "MEDGEN:575565" "PMID:35347128" "PMID:35668104" + "PMID:29875488" "Orphanet:314795" "MESH:C564479" "GARD:17434" @@ -102804,7 +102805,6 @@ "DOID:0112120" "OMIM:300582" "UMLS:C1845118" - "PMID:29875488" "SNOMEDCT_US:41729002" "UMLS:C0221353" "Fyler:4507" @@ -103048,9 +103048,9 @@ "SNOMEDCT_US:64779008" "UMLS:C1458140" "SNOMEDCT_US:248250000" + "PMID:28240269" "NCIt:C116003" "MedDRA:10042182" - "PMID:28240269" "MONDO:0006721" "MEDGEN:101771" "UMLS:C0149870" @@ -103242,17 +103242,16 @@ "MESH:D016603" "ICD9:710.5" "PMID:29875488" - "OMIM:300778" - "ICD10:H18.5" "UMLS:C0151786" "SNOMEDCT_US:26544005" + "OMIM:300778" + "ICD10:H18.5" "OMIM:203700" "MedDRA:10062943" "DOID:1442" "UMLS:C0205710" "ICD10:G31.8" "MeSH:D002549" - "PMID:29875488" "Orphanet:1578" "DOID:0081131" "SCTID:124646004" @@ -103262,6 +103261,7 @@ "OMIM:264070" "ICD9:277.6" "MEDGEN:337890" + "PMID:29875488" "NCIt:C67015" "NCIT:C5969" "DOID:4206" @@ -103990,8 +103990,8 @@ "DOID:7142" "NCIT:C6460" "MEDGEN:234784" - "MONDO:0004122" "UMLS:C1335980" + "MONDO:0004122" "PMID:35347128" "SNOMEDCT_US:33449004" "ICD-10:F60" @@ -104921,7 +104921,6 @@ "NCIT:C122798" "MEDGEN:588369" "UMLS:C0403397" - "ICD10:Q87.8" "Orphanet:101987" "GARD:19809" "UMLS:C3805116" @@ -104937,6 +104936,7 @@ "EMAPA:17669" "VHOG:0000406" "PMID:37253714" + "ICD10:Q87.8" "Orphanet:1178" "GARD:16559" "MESH:C564788" @@ -105261,17 +105261,6 @@ "NIFSTD:sao789292116" "SNOMEDCT:63483002" "FMA:54539" - "SNOMEDCT:70650003" - "MONDO:0006678" - "MESH:D001744" - "UMLS:C0005683" - "DOID:11355" - "MEDGEN:14149" - "MedDRA:10005001" - "MeSH:D001744" - "ICD9:594.1" - "SCTID:70650003" - "NCIt:C26707" "UMLS:C0877024" "NCIT:C135087" "DOID:0060490" @@ -105287,9 +105276,20 @@ "NANDO:2200711" "RRID:CVCL_C836" "BTO:0005717" + "SNOMEDCT:70650003" + "MONDO:0006678" + "MESH:D001744" + "UMLS:C0005683" + "DOID:11355" + "MEDGEN:14149" + "MedDRA:10005001" + "MeSH:D001744" + "ICD9:594.1" + "SCTID:70650003" + "NCIt:C26707" "PMID:29875488" - "PMID:35501403" "PMID:28240269" + "PMID:35501403" "Orphanet:413" "DOID:1172" "ICD9:272.1" @@ -105732,8 +105732,8 @@ "ZEA:0015084" "PO:0020126" "OMIM:615419" - "PMID:36006120" "OMIM:618672" + "PMID:36006120" "NCIt:C21173" "SNOMEDCT:272515006" "DOID:0060289" @@ -105934,16 +105934,16 @@ "ICD9:277.6" "SCTID:297257004" "MO:628" - "GARD:19674" - "UMLS:C1303001" - "Orphanet:99172" - "SCTID:400954002" - "MEDGEN:724511" "UMLS:C5680716" "Orphanet:254830" "MEDGEN:1842923" "icd11.foundation:1118834100" "GARD:20762" + "GARD:19674" + "UMLS:C1303001" + "Orphanet:99172" + "SCTID:400954002" + "MEDGEN:724511" "MESH:D014526" "MeSH:D014526" "MedDRA:10046492" @@ -106034,10 +106034,6 @@ "MEDGEN:1824022" "OMIM:620111" "UMLS:C5774249" - "MedDRA:10008378" - "MeSH:D002590" - "ICD10:B71" - "DOID:933" "BTO:0001197" "RRID:CVCL_2874" "CLO:0002333" @@ -106046,6 +106042,10 @@ "MEDGEN:307248" "DOID:6518" "PMID:31085678" + "MedDRA:10008378" + "MeSH:D002590" + "ICD10:B71" + "DOID:933" "ICD10CM:Q87.8" "OMIM:236680" "DOID:0050779" @@ -106399,6 +106399,8 @@ "ICD10:Q87.8" "PMID:19347970" "SNOMEDCT:81454004" + "ICD10:E23.0" + "OMIM:300123" "NCIT:C131533" "GARD:10140" "SCTID:720565000" @@ -106408,8 +106410,6 @@ "NORD:1981" "MESH:C537419" "MEDGEN:208678" - "ICD10:E23.0" - "OMIM:300123" "PMID:33283231" "UMLS:C0742028" "ICD10:Q93.5" @@ -106528,10 +106528,10 @@ "UMLS:C1336007" "DOID:5272" "PMID:23696881" + "PMID:35347128" "UMLS:C1867023" "OMIM:181180" "ICD10:Q87.8" - "PMID:35347128" "GARD:16664" "Orphanet:60033" "SCTID:233629001" @@ -107151,9 +107151,9 @@ "UMLS:C1842564" "MeSH:C536956" "OMIM:608096" - "PMID:29875488" "UMLS:C4280587" "UMLS:C4021770" + "PMID:29875488" "ICD10:E85.0" "OMIM:607115" "MedDRA:10064572" @@ -107263,11 +107263,11 @@ "Wikipedia:Oligomycin" "OMIM:300299" "ICD10:D70" + "ICD10:Q93.5" "PMID:28928442" "UMLS:C0003564" "SNOMEDCT_US:44564008" "SNOMEDCT_US:441913003" - "ICD10:Q93.5" "DOID:0080451" "GARD:16092" "OMIM:616339" @@ -107281,6 +107281,7 @@ "MEDGEN:436381" "UMLS:C2675235" "OMIM:618476" + "EHDAA:1086" "EMAPA:32752" "EHDAA:617" "EHDAA:1669" @@ -107296,12 +107297,15 @@ "EHDAA:579" "UMLS:C0231067" "FMA:293063" - "EHDAA:1086" "SNOMEDCT_US:815008" "UMLS:C0014583" "ICD10:G11.8" "PMID:29875488" "PMID:35347128" + "OMIM:300636" + "OMIM:300645" + "OMIM:300584" + "ICD10:D84.8" "MeSH:D018437" "DOID:606" "MESH:D018437" @@ -107313,22 +107317,18 @@ "ICD10CM:G83.81" "MedDRA:10006491" "MEDGEN:69225" - "OMIM:300636" - "OMIM:300645" - "OMIM:300584" - "ICD10:D84.8" - "OMIM:174000" - "Orphanet:88949" - "MEDGEN:358137" - "GARD:7002" - "NCIT:C123171" - "UMLS:C1868139" "MP:0006202" "ICD10:H43.1" "HP:0007902" "MedDRA:10047656" "NCIt:C50469" "MeSH:D014823" + "OMIM:174000" + "Orphanet:88949" + "MEDGEN:358137" + "GARD:7002" + "NCIT:C123171" + "UMLS:C1868139" "UMLS:C1843042" "MESH:C564332" "OMIM:607812" @@ -107473,10 +107473,10 @@ "UMLS:C0268029" "SCTID:26436007" "MEDGEN:541141" + "PMID:35347128" "Reaxys:9025730" "HMDB:HMDB0061701" "LIPID_MAPS_instance:LMGP01050082" - "PMID:35347128" "PMID:35668104" "Beilstein:5097016" "LIPID_MAPS_instance:LMST01030127" @@ -107852,11 +107852,11 @@ "UMLS:C0347126" "MEDGEN:83854" "NCIT:C4594" + "OMIM:613162" + "ICD10:G11.4" "CLO:0003433" "RRID:CVCL_1220" "BTO:0001584" - "OMIM:613162" - "ICD10:G11.4" "MEDGEN:21056" "MedDRA:10070738" "SCTID:444150000" @@ -108799,8 +108799,6 @@ "MeSH:D054000" "NCIt:C4110" "SNOMEDCT: 274897005" - "PMID:10718481" - "PMID:10604729" "MeSH:D003218" "ICD9:078.11" "NCIT:C4820" @@ -108810,17 +108808,19 @@ "MESH:D003218" "MEDGEN:108217" "MONDO:0005647" + "PMID:10718481" + "PMID:10604729" "UMLS:C0347215" "ICD9:212.0" "SCTID:92241005" "MEDGEN:83859" "NCIT:C4603" "BTO:0004562" - "PMID:35347128" "ICD10:E71.1" "UMLS:C0342728" "OMIM:250950" "UMLS:C0342727" + "PMID:35347128" "PMID:29875488" "MESH:C566825" "UMLS:C1868597" @@ -108846,12 +108846,12 @@ "PMID:35347128" "PMID:23823483" "OMIMPS:616263" + "OMIM:613647" + "ICD10:G11.4" "UMLS:C1333966" "MEDGEN:232274" "DOID:8022" "NCIT:C5832" - "OMIM:613647" - "ICD10:G11.4" "PMID:24816252" "UMLS:C0005396" "NCIT:C2898" @@ -109374,6 +109374,7 @@ "SNOMEDCT_US:229727006" "SNOMEDCT_US:232416001" "SNOMEDCT_US:278714002" + "PMID:29875488" "OMIM:617711" "MEDGEN:1626137" "UMLS:C4540199" @@ -109391,7 +109392,6 @@ "Wikipedia:Cadmium_chloride" "MeSH:D019256" "CAS:10108-64-2" - "PMID:29875488" "UMLS:C0206619" "MEDGEN:64616" "NCIT:C3723" @@ -109456,7 +109456,6 @@ "UMLS:C0268274" "MEDGEN:78656" "PMID:29875488" - "PMID:35264221" "UMLS:C0031110" "EMAPA:35681" "FMA:24041" @@ -109471,6 +109470,7 @@ "UMLS:C1739148" "NCIt:C97140" "MedDRA:10066665" + "PMID:35264221" "NANDO:1200579" "GARD:10865" "MEDGEN:96605" @@ -110211,6 +110211,12 @@ "MeSH:D005130" "MedDRA:10015928" "ATC_code:D" + "GARD:13126" + "DOID:0070206" + "MEDGEN:863306" + "UMLS:C4014869" + "OMIM:615980" + "Orphanet:435660" "NANDO:2200099" "DOID:0060103" "UMLS:C3887678" @@ -110224,20 +110230,14 @@ "EMAPA:27782" "UMLS:C0022674" "EV:0100387" - "MA:0000377" "MESH:D007684" + "MA:0000377" "GAID:433" "ZFA:0001287" "BTO:0000343" "Wikipedia:Renal_tubule" "SCTID:361332007" "EFO:0003666" - "GARD:13126" - "DOID:0070206" - "MEDGEN:863306" - "UMLS:C4014869" - "OMIM:615980" - "Orphanet:435660" "ERO:0000283" "PMID:32641083" "Orphanet:79347" @@ -110418,10 +110418,10 @@ "UMLS:C1867403" "Orphanet:401825" "MeSH:D013273" + "PMID:35347128" "CLO:0007639" "RRID:CVCL_0623" "BTO:0001568" - "PMID:35347128" "Orphanet:353327" "MEDGEN:350678" "Orphanet:1154" @@ -110807,6 +110807,7 @@ "Orphanet:401920" "Orphanet:93926" "GARD:16832" + "ICD10:Q87.1" "UMLS:C0554472" "DOID:421" "ICD9:704.8" @@ -110853,7 +110854,6 @@ "HMDB:HMDB0000699" "PMID:25129409" "LIPID_MAPS_instance:LMST03020024" - "ICD10:Q87.1" "ICD9:098.89" "MEDGEN:9077" "MeSH:D006069" @@ -110923,16 +110923,16 @@ "UMLS:C1838654" "OMIM:600092" "ICD10:Q87.1" - "MESH:C537615" - "UMLS:C2931547" - "Orphanet:3082" - "GARD:3141" - "MEDGEN:444082" "MONDO:0020662" "NCIT:C5226" "MEDGEN:231957" "NCIt:C5226" "UMLS:C1332598" + "MESH:C537615" + "UMLS:C2931547" + "Orphanet:3082" + "GARD:3141" + "MEDGEN:444082" "PMID:24816252" "CASRN:98632-70-3" "DSSTox_Generic_SID:40445" @@ -111091,10 +111091,10 @@ "ICD9:173.9" "SCTID:372130007" "ICD10CM:C43-C44" - "ICD10:Q87.0" "MeSH:D016269" "DOID:4376" "PMID:35347128" + "ICD10:Q87.0" "NORD:1323" "NCIT:C84798" "MESH:D007625" @@ -111279,8 +111279,8 @@ "EHDAA:8203" "EHDAA:4993" "FMA:7406" - "EHDAA:4985" "EHDAA:4977" + "EHDAA:4985" "EHDAA:4955" "EHDAA:4963" "EHDAA:8175" @@ -111315,12 +111315,12 @@ "DOID:0060892" "GARD:17684" "MEDGEN:463618" + "PMID:35347128" "NCIT:C35775" "MEDGEN:124384" "UMLS:C0271100" "SCTID:68575007" "DOID:4353" - "PMID:35347128" "MEDGEN:37145" "MeSH:D016263" "NCIT:C26918" @@ -111733,13 +111733,13 @@ "NCIt:C34964" "MedDRA:10037584" "SNOMEDCT:27174002" + "UMLS:C0431718" + "SNOMEDCT_US:253883006" "Orphanet:183487" "GARD:20276" "OMIM:620173" "MEDGEN:1824050" "UMLS:C5774277" - "UMLS:C0431718" - "SNOMEDCT_US:253883006" "NCIT:C3662" "MedDRA:10046811" "DOID:9042" @@ -111774,11 +111774,6 @@ "Orphanet:3289" "HP:0000679" "UMLS:C0266039" - "NCIt:C46081" - "CASRN:169494-85-3" - "SNOMEDCT:414601001" - "MeSH:D020738" - "DSSTox_Generic_SID:39725" "MESH:D013919" "MeSH:D013919" "NCIT:C35070" @@ -111798,6 +111793,11 @@ "SCTID:52403007" "SNOMEDCT:52403007" "MEDGEN:21531" + "NCIt:C46081" + "CASRN:169494-85-3" + "SNOMEDCT:414601001" + "MeSH:D020738" + "DSSTox_Generic_SID:39725" "NCIt:C116553" "Orphanet:295071" "GARD:4841" @@ -111855,6 +111855,7 @@ "BTO:0002418" "PMID:35050183" "PMID:33634981" + "Orphanet:275803" "PMID:22211106" "CAS:71-50-1" "NCIt:C94719" @@ -111884,7 +111885,6 @@ "OMIM:187760" "MEDGEN:349978" "OMIM:187770" - "Orphanet:275803" "Orphanet:3379" "GARD:18794" "MEDGEN:1635674" @@ -112078,12 +112078,12 @@ "UMLS:C1332536" "NCIT:C7617" "DOID:0050622" + "PMID:35501403" "Orphanet:93335" "SCTID:715707008" "MEDGEN:357425" "UMLS:C1868120" "GARD:16818" - "PMID:35501403" "SCTID:700423003" "MONDO:0006047" "EFO:1000044" @@ -112262,7 +112262,6 @@ "UMLS:C0235812" "NCIt:C50587" "MedDRA:10054835" - "EV:0100391" "CALOHA:TS-0860" "ZFA:0005294" "GAID:434" @@ -112274,6 +112273,7 @@ "MA:0000371" "SCTID:28202009" "EMAPA:28407" + "EV:0100391" "ATC_code:G" "PMID:32641083" "NANDO:2201361" @@ -112317,9 +112317,9 @@ "GARD:18734" "SCTID:763717004" "MEDGEN:1636968" - "PMID:35347128" "SNOMEDCT:414481008" "NCIt:C41262" + "PMID:35347128" "RRID:CVCL_0418" "CLO:0007640" "BTO:0001908" @@ -112552,6 +112552,7 @@ "SCTID:48611009" "NCIT:C84665" "Orphanet:218" + "PMID:36006120" "ICD9:733.6" "UMLS:C0040213" "NCIT:C168333" @@ -112559,7 +112560,6 @@ "MESH:D013991" "MEDGEN:52753" "SCTID:30128009" - "PMID:36006120" "Orphanet:295150" "Patent:US2954384" "Drug_Central:3201" @@ -112692,11 +112692,11 @@ "UMLS:C4707259" "Orphanet:171889" "MEDGEN:1636081" - "DOID:7379" - "NCIT:C9276" "MedDRA:10083950" "Wikipedia:Scarring_hair_loss" "ICD10:L66" + "DOID:7379" + "NCIT:C9276" "MeSH:D011026" "SNOMEDCT:82542004" "DOID:113" @@ -112932,11 +112932,11 @@ "SCTID:247604006" "UMLS:C0227578" "FMA:16011" - "PMID:29875488" "MEDGEN:412576" "UMLS:C2748542" "MONDO:0005449" "ICD10:I45" + "PMID:29875488" "OMIM:618885" "UMLS:C5394387" "MEDGEN:1709627" @@ -113177,11 +113177,11 @@ "UMLS:C0342825" "SCTID:238032002" "MEDGEN:575238" + "SNOMEDCT:243242006" "MEDGEN:1794284" "OMIM:619688" "UMLS:C5562074" "DOID:0070397" - "SNOMEDCT:243242006" "OMIM:232200" "ICD10:E74.0" "MEDGEN:1718224" @@ -113197,14 +113197,6 @@ "MEDGEN:334618" "PMID:34503513" "PMID:24816252" - "DOID:0081441" - "Orphanet:3051" - "UMLS:C1303073" - "MEDGEN:220983" - "GARD:270" - "MESH:C536116" - "SCTID:401046009" - "OMIM:601358" "Orphanet:83" "NANDO:1200669" "SCTID:62964007" @@ -113215,6 +113207,14 @@ "GARD:5826" "NORD:792" "DOID:0081289" + "DOID:0081441" + "Orphanet:3051" + "UMLS:C1303073" + "MEDGEN:220983" + "GARD:270" + "MESH:C536116" + "SCTID:401046009" + "OMIM:601358" "SNOMEDCT:197352008" "MONDO:0005359" "MESH:D056486" @@ -113319,11 +113319,6 @@ "CALOHA:TS-2032" "FBbt:00005074" "FMA:67328" - "TGMA:0000720" - "ZFA:0001114" - "MAT:0000017" - "FBbt:00003007" - "MA:0000316" "SCTID:420422005" "ICD9:250.1" "NCIt:C50530" @@ -113337,6 +113332,11 @@ "MONDO:0012819" "SNOMEDCT:420422005" "MEDGEN:8351" + "TGMA:0000720" + "ZFA:0001114" + "MAT:0000017" + "FBbt:00003007" + "MA:0000316" "UMLS:C0341703" "MEDGEN:137960" "NCIT:C4377" @@ -113403,14 +113403,14 @@ "NCIt:C128976" "GARD:21596" "Orphanet:370106" + "PMID:27530334" "Orphanet:424019" "UMLS:C1332262" "GARD:21774" "NCIT:C7469" "DOID:7177" - "icd11.foundation:585238371" "MEDGEN:233979" - "PMID:27530334" + "icd11.foundation:585238371" "OMIM:181800" "MEDGEN:438003" "UMLS:C2700406" @@ -113707,18 +113707,18 @@ "OMIM:118651" "MESH:C562961" "PMID:35347128" - "PMID:22466170" "NCIT:C96160" "MONDO:0006162" "EFO:1000195" "UMLS:C3272611" "MEDGEN:474244" + "PMID:22466170" "NCIT:C33526" "MA:0000439" "EMAPA:37739" "Wikipedia:Segmental_bronchus" - "VHOG:0001446" "UMLS:C0444439" + "VHOG:0001446" "FMA:7407" "EHDAA:7064" "EHDAA:7043" @@ -113869,8 +113869,8 @@ "DOID:0112381" "PMID:33634981" "SCTID:84209002" - "UMLS:C0236795" "ICD10CM:F44.0" + "UMLS:C0236795" "MEDGEN:66743" "ICD9:300.12" "DOID:11037" @@ -113933,6 +113933,10 @@ "UMLS:C1838578" "PMID:29875488" "PMID:35995766" + "GARD:20965" + "UMLS:C5680741" + "Orphanet:268810" + "MEDGEN:1806905" "MESH:D007897" "ICD10CM:B55.2" "MEDGEN:233065" @@ -113944,10 +113948,6 @@ "NCIT:C34769" "UMLS:C1328252" "DOID:9155" - "GARD:20965" - "UMLS:C5680741" - "Orphanet:268810" - "MEDGEN:1806905" "Wikipedia:Artery#Systemic_arteries" "FMA:66464" "EMAPA:37126" @@ -114134,12 +114134,12 @@ "Orphanet:2635" "MESH:C537356" "UMLS:C0265281" + "EFO:1000266" "DOID:7133" "NCIT:C6763" "MEDGEN:232229" "UMLS:C1333759" "MONDO:0006219" - "EFO:1000266" "ZFA:0000841" "RRID:CVCL_GX99" "PMID: 11479214" @@ -114421,8 +114421,6 @@ "SCTID:721764008" "UMLS:C4303135" "MEDGEN:928804" - "MeSH:D018186" - "DOID:1275" "PMID:31296986" "Drug_Central:2825" "DrugBank:DB00541" @@ -114447,6 +114445,8 @@ "NCIt:C933" "PMID:30277559" "PMID:18520608" + "MeSH:D018186" + "DOID:1275" "Orphanet:505227" "GARD:17941" "DOID:0111993" @@ -114541,8 +114541,8 @@ "UMLS:C0339124" "NCIT:C4360" "MEDGEN:83280" - "PMID:35347128" "PMID:36168886" + "PMID:35347128" "PMID:25493955" "OMIM:618050" "UMLS:C4748003" @@ -114834,8 +114834,8 @@ "GARD:116" "Orphanet:79279" "DOID:0112318" - "PMID:29875488" "PMID:28240269" + "PMID:29875488" "UMLS:C0342337" "GARD:3009" "Orphanet:2298" @@ -114893,10 +114893,10 @@ "MESH:D020425" "OMIM:612109" "ICD10:Q87.8" - "UMLS:C4023721" "UMLS:C2677897" "OMIM:300750" "ICD10:G11.4" + "UMLS:C4023721" "PMID:30678657" "MEDGEN:1787923" "OMIM:619320" @@ -114929,8 +114929,8 @@ "TAO:0000279" "VHOG:0000559" "XAO:0000057" - "EMAPA:16752" "AAO:0011086" + "EMAPA:16752" "EMAPA:16189" "EFO:0001982" "Orphanet:251009" @@ -115732,8 +115732,8 @@ "MA:0000122" "SCTID:362201006" "EMAPA:17507" - "VHOG:0000448" "NCIT:C12269" + "VHOG:0000448" "UMLS:C0227579" "EHDAA2:0001374" "Wikipedia:Head_of_pancreas" @@ -115958,12 +115958,12 @@ "MESH:D007580" "SCTID:126834003" "OMIM:193235" - "PMID:29875488" "OMIM:613243" "DOID:0110319" "MESH:C567686" "UMLS:C2750472" "MEDGEN:442487" + "PMID:29875488" "ZFA:0001385" "PMID:33067605" "UMLS:C0025988" @@ -116040,17 +116040,17 @@ "SCTID:2231001" "MEDGEN:543047" "NCIt:C27744" - "GARD:15421" - "OMIM:607829" - "UMLS:C1843003" - "MESH:C564326" - "MEDGEN:335856" "MONDO:0006163" "UMLS:C3272809" "EFO:1000196" "ICDO:8213/3" "MEDGEN:474442" "NCIT:C96485" + "GARD:15421" + "OMIM:607829" + "UMLS:C1843003" + "MESH:C564326" + "MEDGEN:335856" "PMID:28240269" "PMID:29875488" "SNOMEDCT_US:71325002" @@ -116828,11 +116828,11 @@ "MEDGEN:120511" "NANDO:2200957" "GTR:AN0102079" - "PMID:29875488" "OMIM:618718" "UMLS:C5438861" "MEDGEN:1727346" "Orphanet:295154" + "PMID:29875488" "PMID:29875488" "PMID:28240269" "PMID:23828888" @@ -116983,8 +116983,8 @@ "ICD10:Q82.4" "UMLS:C0406716" "OMIM:189500" - "Reaxys:3903948" "PMID:29875488" + "Reaxys:3903948" "MedDRA:10062766" "OMIM:248200" "OMIM:603786" @@ -117007,8 +117007,8 @@ "OMIM:236000" "UMLS:C0019829" "GARD:16529" - "RRID:CVCL_XF44" "PMID:10594010" + "RRID:CVCL_XF44" "MONDO:0006833" "SNOMEDCT:75667007" "DOID:13196" @@ -117058,6 +117058,7 @@ "Orphanet:1580" "MEDGEN:321954" "NCIT:C130982" + "HMDB:0032822" "UMLS:C4015285" "MEDGEN:863722" "OMIM:616117" @@ -117072,7 +117073,6 @@ "DOID:1803" "MEDGEN:14344" "SCTID:84299009" - "HMDB:0032822" "GARD:11951" "NANDO:2200056" "UMLS:C0035412" @@ -117358,10 +117358,6 @@ "OMIM:612318" "UMLS:C0549150" "PMID:29875488" - "OMIM:615767" - "OMIM:613148" - "OMIM:612567" - "ICD10:K52.8" "ICD9:040.1" "MONDO:0005945" "MedDRA:10039102" @@ -117371,6 +117367,10 @@ "SCTID:72409005" "DOID:11336" "MESH:D012226" + "OMIM:615767" + "OMIM:613148" + "OMIM:612567" + "ICD10:K52.8" "SNOMEDCT:20016009" "NCIt:C3228" "MedDRA:10027182" @@ -117402,8 +117402,8 @@ "NCIT:C12338" "EHDAA:9332" "MESH:D014497" - "PMID:28240269" "GAZ:00002747" + "PMID:28240269" "DOID:9835" "NCIt:C87145" "MeSH:D012030" @@ -117506,8 +117506,8 @@ "SNOMEDCT_US:36485005" "UMLS:C3277226" "PMID:35995766" - "RGD:1357955" "PMID:23823483" + "RGD:1357955" "MESH:C537349" "MEDGEN:395935" "SCTID:715472000" @@ -117552,6 +117552,7 @@ "MeSH:D010392" "NCIT:C34909" "SCTID:65172003" + "ICD10:Q98.8" "NCIt:C25552" "MeSH:D007854" "SNOMEDCT:88488004" @@ -117563,14 +117564,13 @@ "UMLS:C4708599" "GARD:16875" "SCTID:39302008" - "ICD10:Q98.8" "UMLS:C1334576" "NCIT:C5126" "MEDGEN:233659" "DOID:3843" - "PMID:34503513" "FBbt:00001056" "PMID:24954085" + "PMID:34503513" "PMID:21963238" "PMID:35347128" "EHDAA:8171" @@ -117692,7 +117692,6 @@ "MEDGEN:1732975" "GARD:15350" "OMIM:602722" - "PMID:33634981" "SNOMEDCT:272784002" "SNOMEDCT:46293006" "KEGG:D00780" @@ -117700,11 +117699,13 @@ "Beilstein:6048116" "NCIt:C51181" "CAS:22260-51-1" + "PMID:33634981" "Orphanet:294927" "GARD:21180" "MEDGEN:1809253" "UMLS:C5676931" "OMIM:619775" + "UMLS:C0005684" "ICD9:188.9" "ICD9:188.8" "DOID:11054" @@ -117714,7 +117715,6 @@ "OMIM:109800" "SCTID:399326009" "ICD9:188" - "UMLS:C0005684" "MONDO:0007745" "MeSH:D005878" "ICD10CM:E80.4" @@ -117762,6 +117762,7 @@ "PMID:33987332" "KEGG:C06767" "Beilstein:4648025" + "PMID:35347128" "GARD:12301" "NANDO:1200498" "Orphanet:614" @@ -117774,7 +117775,6 @@ "DOID:2106" "NANDO:1200497" "ICD9:359.22" - "PMID:35347128" "PMID:29875488" "PMID:24816252" "MEDGEN:1842824" @@ -117867,6 +117867,7 @@ "NCIt:C16342" "NCIT:C3360" "MESH:D012303" + "PMID:29875488" "UMLS:C1863225" "GARD:548" "OMIM:102800" @@ -117880,7 +117881,6 @@ "DOID:0070123" "Orphanet:90674" "GARD:10129" - "PMID:29875488" "NCIT:C36263" "MEDGEN:422475" "UMLS:C2939419" @@ -118219,8 +118219,8 @@ "HAO:0000316" "CALOHA:TS-2216" "Wikipedia:Face" - "galen:Face" "GAID:64" + "galen:Face" "BTO:0003369" "FMA:24728" "NCIt:C25734" @@ -118385,11 +118385,11 @@ "GARD:22057" "NCIT:C45843" "PMID:29875488" + "PMID:29875488" "SNOMEDCT_US:42365007" "UMLS:C1836509" "UMLS:C0270846" "SNOMEDCT_US:189198006" - "PMID:29875488" "ICD9:708.8" "NCIt:C34400" "MEDGEN:2458" @@ -118479,8 +118479,8 @@ "EMAPA:18427" "NCIT:C12396" "EFO:0000237" - "GAID:447" "FMA:15632" + "GAID:447" "ONCOTREE:MOV" "UMLS:C1518233" "NCIT:C40033" @@ -119107,10 +119107,6 @@ "Orphanet:98958" "MEDGEN:573075" "PMID:29875488" - "UMLS:C1515285" - "NCIT:C39947" - "MEDGEN:308257" - "DOID:6032" "OMIM:614284" "ICD10:Q87.5" "OMIM:108300" @@ -119120,6 +119116,10 @@ "OMIM:604841" "OMIM:614134" "MedDRA:10063402" + "UMLS:C1515285" + "NCIT:C39947" + "MEDGEN:308257" + "DOID:6032" "PMID:29875488" "UMLS:C0032046" "DOID:11060" @@ -119231,22 +119231,22 @@ "UMLS:C5542345" "MEDGEN:1786502" "GARD:15286" - "CLO:0002420" - "BTO:0004061" - "RRID:CVCL_1122" "OMIM:601214" "ICD10:Q87.8" "UMLS:C1832600" "MeSH:C538346" + "CLO:0002420" + "BTO:0004061" + "RRID:CVCL_1122" "OMIM:137200" "ICD10:G60.0" + "SCTID:713609000" "MONDO:0006256" "NCIT:C9245" "UMLS:C0853879" "ONCOTREE:BRCA" "EFO:1000307" "MEDGEN:163435" - "SCTID:713609000" "UMLS:C0037315" "SNOMEDCT_US:73430006" "OMIM:212140" @@ -119565,8 +119565,8 @@ "MA:0002565" "GAID:900" "FMA:59160" - "SCTID:361697005" "EMAPA:35754" + "SCTID:361697005" "MedDRA:10060360" "OMIM:300755" "UMLS:C0221026" @@ -119701,6 +119701,7 @@ "PMID:29875488" "NCIt:C3471" "MeSH:D016483" + "PMID:29875488" "Wikipedia:Scapula" "TAO:0000583" "SCTID:302517007" @@ -119719,7 +119720,6 @@ "MESH:D012540" "EMAPA:18722" "GAID:186" - "PMID:29875488" "SNOMEDCT:450862004" "MeSH:D056285" "NCIt:C114268" @@ -120121,14 +120121,14 @@ "NCIT:C176896" "GARD:12781" "UMLS:C3279775" - "UMLS:C2931371" - "MeSH:C536938" "OMIM:147920" "MedDRA:10063935" "ICD10:Q87.0" "UMLS:C0796004" "MeSH:C537705" "OMIM:300867" + "UMLS:C2931371" + "MeSH:C536938" "ICD10:M89" "NANDO:2100291" "MEDGEN:14182" @@ -120847,9 +120847,9 @@ "OMIM:176920" "MeSH:D016715" "MedDRA:10074067" - "PMID:35347128" "PMID:26241739" "Orphanet:294049" + "PMID:35347128" "OMIM:609945" "MESH:C537100" "UMLS:C1864965" @@ -120886,14 +120886,14 @@ "Wikipedia:Antiemetic" "MeSH:D000932" "SNOMEDCT:372764000" - "UMLS:C0795895" - "OMIM:203550" - "MeSH:C537051" - "ICD10:Q87.8" "OMIM:605588" "MeSH:C537990" "ICD10:G60.0" "UMLS:C1854154" + "UMLS:C0795895" + "OMIM:203550" + "MeSH:C537051" + "ICD10:Q87.8" "OMIM:605362" "PMID:29875488" "MA:0000773" @@ -121080,8 +121080,8 @@ "OMIM:149000" "MedDRA:10051452" "ICD10:Q87.2" - "PMID:29875488" "NCIT:C9018" + "PMID:29875488" "BTO:0003913" "CLO:0007730" "RRID:CVCL_0429" @@ -121320,6 +121320,10 @@ "OMIM:256731" "UMLS:C0431692" "ICD10:Q60.4" + "UMLS:C0796173" + "OMIM:271700" + "MeSH:C535799" + "ICD10:Q77.7" "GARD:4206" "NCIT:C43298" "SCTID:715414009" @@ -121328,10 +121332,6 @@ "UMLS:C2931038" "Orphanet:1333" "MEDGEN:419700" - "UMLS:C0796173" - "OMIM:271700" - "MeSH:C535799" - "ICD10:Q77.7" "MeSH:D001159" "CAS:72-43-5" "Beilstein:2057367" @@ -121759,13 +121759,13 @@ "SCTID:763276000" "MEDGEN:1641655" "RRID:CVCL_DR61" - "PMID:29875488" "DOID:0070244" "UMLS:C5568562" "OMIM:616276" "Orphanet:457185" "GARD:17796" "MEDGEN:1799985" + "PMID:29875488" "GAZ:00004525" "UMLS:C1849134" "OMIM:614671" @@ -121783,8 +121783,8 @@ "PMID:35347128" "PMID:35995766" "PMID:35347128" - "PMID:23823483" "RGD:1359002" + "PMID:23823483" "MEDGEN:350942" "OMIM:603622" "DOID:0110548" @@ -121990,6 +121990,7 @@ "SNOMEDCT:53430007" "MeSH:D059373" "ICD10:N64.4" + "PMID:35888748" "SCTID:277807007" "ICD9:520.8" "MEDGEN:141594" @@ -121999,7 +122000,6 @@ "DOID:0111571" "Orphanet:952" "UMLS:C0457013" - "PMID:35888748" "PMID:22555283" "Wikipedia:Cannabinoid" "PMID:22530636" @@ -122169,10 +122169,10 @@ "OMIM:618853" "DOID:0080963" "UMLS:C5394289" + "PMID:29875488" "BTO:0000670" "RRID:CVCL_0374" "CLO:0007093" - "PMID:29875488" "UMLS:C1835813" "OMIM:610842" "SCTID:717941005" @@ -122339,16 +122339,16 @@ "UMLS:C0024473" "MONDO:0006844" "MeSH:D008275" - "MEDGEN:330750" - "GARD:3026" - "OMIM:137600" - "UMLS:C1842031" - "DOID:0080609" "MESH:C565851" "OMIM:215450" "MEDGEN:347799" "GARD:1305" "UMLS:C1859098" + "MEDGEN:330750" + "GARD:3026" + "OMIM:137600" + "UMLS:C1842031" + "DOID:0080609" "MONDO:0005384" "MedDRA:10034063" "ICD9:345.50" @@ -122384,14 +122384,16 @@ "PMID:29875488" "GARD:16531" "Orphanet:422" - "UMLS:C3180937" - "OMIM:615656" - "ICD10:Q93.5" "UMLS:C0265101" "ICD9:433.10" "SCTID:266254007" "MEDGEN:539079" "DOID:807" + "UMLS:C3180937" + "OMIM:615656" + "ICD10:Q93.5" + "PMID: 26629530" + "RRID:CVCL_IS01" "UMLS:C0040435" "SCTID:234947003" "ICD10:K08" @@ -122402,8 +122404,6 @@ "MEDGEN:11852" "DOID:1091" "NCIT:C35077" - "PMID: 26629530" - "RRID:CVCL_IS01" "Orphanet:400018" "GARD:21692" "OMIM:186580" @@ -122742,9 +122742,8 @@ "UMLS:C4693816" "MEDGEN:1633724" "OMIM:617977" - "ICD10:L68.2" "FBbt:00005526" - "ICD10:M89.2" + "ICD10:L68.2" "PMID:33723576" "SCTID:234468009" "MESH:C562865" @@ -122753,7 +122752,7 @@ "OMIM:612356" "ICD9:286.3" "UMLS:C0398626" - "PMID:29875488" + "ICD10:M89.2" "HP:0001704" "MESH:D014263" "MEDGEN:11912" @@ -122764,6 +122763,7 @@ "Orphanet:95458" "MONDO:0007001" "MeSH:D014263" + "PMID:29875488" "OMIM:614613" "MEDGEN:766164" "GARD:15823" @@ -123218,11 +123218,11 @@ "OMIM:613845" "Orphanet:363694" "UMLS:C3151209" - "PMID:35347128" "Orphanet:370006" "OMIM:615926" "MEDGEN:863145" "UMLS:C4014708" + "PMID:35347128" "NCIt:C34995" "OMIM:181000" "MeSH:D012507" @@ -123456,14 +123456,14 @@ "ICD9:443.21" "SCTID:720626009" "OMIM:268130" - "NCIt:C1967" - "Wikipedia:Tyrosine-kinase_inhibitor" - "PMID:33634981" "OMIM:148050" "ICD10:Q87.8" "UMLS:C0220687" "MeSH:C537015" "MedDRA:10084411" + "NCIt:C1967" + "Wikipedia:Tyrosine-kinase_inhibitor" + "PMID:33634981" "MedDRA:10041552" "MeSH:D013119" "MedGen:893651" @@ -123481,8 +123481,8 @@ "OMIM:617992" "MEDGEN:355614" "MO:462" - "PMID:25552591" "PMID:24816252" + "PMID:25552591" "icd11.foundation:1748922908" "MEDGEN:58162" "MONDO:0008585" @@ -123801,10 +123801,6 @@ "MEDGEN:113161" "UMLS:C0221289" "NCIT:C3829" - "MEDGEN:1804672" - "OMIM:619935" - "UMLS:C5677009" - "SNOMEDCT:17370001" "SCTID:445187004" "NORD:1926" "ORDO:81" @@ -123818,6 +123814,10 @@ "MESH:C537778" "UMLS:C2609059" "MedDRA:10068801" + "SNOMEDCT:17370001" + "MEDGEN:1804672" + "OMIM:619935" + "UMLS:C5677009" "PMID:35347128" "GARD:20856" "MEDGEN:1841544" @@ -123869,16 +123869,16 @@ "PMID:34610981" "PMID:35888748" "PMID:30134952" - "PMID:29875488" "MEDGEN:754440" "UMLS:C2939445" "SCTID:92557009" "DOID:0050614" + "PMID:29875488" + "OMIM:225060" + "MeSH:C536726" "DOID:11266" "MedDRA:10075020" "MeSH:D006480" - "OMIM:225060" - "MeSH:C536726" "GARD:10366" "UMLS:C1838329" "SCTID:723554006" @@ -124427,6 +124427,12 @@ "PMID:35347128" "OMIM:222470" "OMIM:614602" + "MeSH:D058497" + "ICD10:Q87.0" + "MedDRA:10080219" + "OMIM:617666" + "OMIM:617667" + "OMIM:219000" "SCTID:440422002" "NCIT:C7149" "MONDO:0005235" @@ -124434,12 +124440,6 @@ "UMLS:C1531608" "EFO:0003073" "DOID:9551" - "MeSH:D058497" - "ICD10:Q87.0" - "MedDRA:10080219" - "OMIM:617666" - "OMIM:617667" - "OMIM:219000" "PMID:33634981" "AAO:0000545" "UMLS:C0035561" @@ -124527,8 +124527,8 @@ "PMID:29875488" "neuronames:2497" "HBA:9418" - "EFO:0001914" "MESH:D002552" + "EFO:0001914" "SCTID:180929003" "MA:0000818" "UMLS:C0007799" @@ -124671,13 +124671,13 @@ "UMLS:C0267502" "DOID:11223" "PMID:29875488" - "PMID:28240269" "NCIT:C40305" "MEDGEN:384495" "UMLS:C2202743" "DOID:6339" - "PMID:32321835" + "PMID:28240269" "NCIt:C147359" + "PMID:32321835" "NANDO:1200236" "MESH:D016109" "SCTID:79855003" @@ -124722,6 +124722,10 @@ "UMLS:C0206767" "MESH:D018297" "PMID:30217807" + "UMLS:C0279687" + "NCIT:C7986" + "DOID:6037" + "MEDGEN:76015" "UMLS:C2749049" "DOID:0060446" "SCTID:718579008" @@ -124730,10 +124734,6 @@ "Orphanet:293621" "OMIM:300779" "MESH:C567587" - "UMLS:C0279687" - "NCIT:C7986" - "DOID:6037" - "MEDGEN:76015" "SCTID:27052006" "MEDGEN:6186" "ICD9:084.1" @@ -124925,8 +124925,8 @@ "HP:0001114" "MONDO:0005236" "NCIT:C4071" - "PMID:35347128" "MO:565" + "PMID:35347128" "UMLS:C4021655" "Orphanet:98267" "GARD:19439" @@ -125525,10 +125525,6 @@ "MEDGEN:102385" "ICD10:M27.1" "NCIT:C121893" - "MedDRA:10053240" - "OMIM:232700" - "ICD10:E74.0" - "UMLS:C0017925" "NANDO:2201167" "MESH:C564485" "GARD:3858" @@ -125538,6 +125534,10 @@ "UMLS:C1845151" "OMIM:300559" "Orphanet:715" + "MedDRA:10053240" + "OMIM:232700" + "ICD10:E74.0" + "UMLS:C0017925" "PMID:29875488" "MeSH:C569686" "ICD9:215.9" @@ -125592,6 +125592,7 @@ "MedDRA:10004073" "UMLS:C0004690" "MEDGEN:14020" + "OMIM:300455" "NCIT:C8292" "UMLS:C0281332" "MEDGEN:83794" @@ -125604,7 +125605,6 @@ "MEDGEN:183017" "NCIT:C35545" "MO:555" - "OMIM:300455" "PMID:27477909" "PMID:21150871" "Reaxys:3565084" @@ -125681,10 +125681,10 @@ "Orphanet:79301" "MEDGEN:335883" "OMIM:607765" - "http://www.ajnr.org/content/18/7/1364.full.pdf" - "EFO:0005699" "GARD:19189" "Orphanet:93424" + "http://www.ajnr.org/content/18/7/1364.full.pdf" + "EFO:0005699" "OMIM:616534" "MEDGEN:907624" "GARD:16132" @@ -125733,7 +125733,6 @@ "icd11.foundation:592246939" "GARD:20142" "PMID:35347128" - "PMID:24816252" "EHDAA2_RETIRED:0003154" "EFO:0000807" "SCTID:361692004" @@ -125759,6 +125758,7 @@ "XAO:0000176" "MESH:D034582" "MIAA:0000033" + "PMID:24816252" "Wikipedia:Color_blindness" "Orphanet:319691" "SNOMEDCT:51445007" @@ -125899,9 +125899,9 @@ "MESH:D019337" "UMLS:CN242171" "Orphanet:466729" + "PMID:28194004" "UMLS:C0023316" "SNOMEDCT_US:65814009" - "PMID:28194004" "MeSH:D048373" "SNOMEDCT:4099006" "UMLS:C0432322" @@ -125990,12 +125990,18 @@ "GARD:7207" "NORD:1509" "PMID:35050183" - "FMA:3832" "MESH:C537441" "OMIM:601701" "Orphanet:3354" "MEDGEN:355714" "UMLS:C1866427" + "MESH:D019956" + "MEDGEN:21320" + "ICD9:307.3" + "DOID:2303" + "SCTID:5507002" + "UMLS:C0038273" + "FMA:3832" "BTO:0000084" "Wikipedia:Vermiform_appendix" "MESH:D001065" @@ -126015,12 +126021,6 @@ "MA:0001540" "CALOHA:TS-1267" "EFO:0000849" - "MESH:D019956" - "MEDGEN:21320" - "ICD9:307.3" - "DOID:2303" - "SCTID:5507002" - "UMLS:C0038273" "MEDGEN:163239" "OMIM:211530" "GARD:18010" @@ -126279,14 +126279,14 @@ "PMID:28240269" "PMID:29875488" "PMID:35347128" - "ICD10:M91.8" - "UMLS:C1860596" - "MeSH:C536472" - "OMIM:191520" "OMIM:606407" "ICD10:Q93.5" "PMID:35347128" "PMID:27839851" + "ICD10:M91.8" + "UMLS:C1860596" + "MeSH:C536472" + "OMIM:191520" "GARD:5683" "ICD9:759.89" "NANDO:2200979" @@ -126356,10 +126356,10 @@ "MedDRA:10052452" "DOID:0060849" "UMLS:C0432252" + "PMID:35347128" "OMIM:215500" "UMLS:C4551884" "MEDGEN:1639900" - "PMID:35347128" "DOID:0112063" "OMIM:301051" "UMLS:C5435745" @@ -126368,6 +126368,8 @@ "UMLS:C1304191" "SCTID:402397006" "ICD9:708.8" + "UMLS:C0021051" + "SNOMEDCT_US:234532001" "NANDO:2200534" "UMLS:C0751161" "SCTID:8849004" @@ -126376,8 +126378,6 @@ "Orphanet:79238" "DOID:0111458" "GARD:5392" - "UMLS:C0021051" - "SNOMEDCT_US:234532001" "PMID:24816252" "UMLS:C0005699" "MEDGEN:2281" @@ -126387,6 +126387,8 @@ "MONDO:0006115" "SCTID:413656006" "PMID:29875488" + "PMID:PMC1531688" + "BTO:0000932" "Wikipedia:Insulitis" "PMID:20545565" "MONDO:0005176" @@ -126401,8 +126403,6 @@ "MedDRA:10034735" "Orphanet:2380" "SCTID:15739006" - "PMID:PMC1531688" - "BTO:0000932" "PMID:29875488" "Reaxys:9227329" "MetaCyc:N-ACETYLNEURAMINATE" @@ -126421,6 +126421,7 @@ "RRID:CVCL_D040" "NCIt:C84818" "SNOMEDCT:83729008" + "HMDB:0032472" "Orphanet:98955" "GARD:16877" "MESH:C567588" @@ -126430,7 +126431,6 @@ "OMIM:300778" "DOID:0060450" "OMIM:620763" - "HMDB:0032472" "MeSH:D010487" "PMID:29875488" "BTO:0005022" @@ -126597,7 +126597,6 @@ "UMLS:C1859305" "OMIM:212840" "MESH:C565870" - "FMA:24138" "EHDAA2:0000238" "EMAPA:17215" "BTO:0004148" @@ -126607,6 +126606,7 @@ "AAO:0000092" "SCTID:260488005" "UMLS:C0728985" + "FMA:24138" "DOID:60006" "MEDGEN:195779" "UMLS:C0685121" @@ -126645,6 +126645,8 @@ "MESH:C565942" "PMID:23065768" "RRID:CVCL_D7EN" + "MedDRA:10013395" + "SCTID:62476001" "MEDGEN:87550" "UMLS:C0346303" "GARD:19157" @@ -126652,8 +126654,6 @@ "Orphanet:91347" "ICD10CM:D35.2" "NCIT:C8011" - "MedDRA:10013395" - "SCTID:62476001" "GARD:12097" "Orphanet:77258" "GARD:15017" @@ -126723,12 +126723,12 @@ "GARD:114" "DOID:0110210" "OMIM:311070" + "UMLS:C0239842" "XAO:0000465" "AAO:0011024" "ZFA:0000944" "EFO:0003595" "TAO:0000944" - "UMLS:C0239842" "NCIT:C142783" "MEDGEN:1639012" "UMLS:C4684821" @@ -127118,7 +127118,6 @@ "BTO:0003104" "GARD:19686" "Orphanet:99739" - "PMID:29875488" "NANDO:2200690" "SCTID:1563006" "UMLS:C0242666" @@ -127131,6 +127130,7 @@ "NANDO:2100198" "NANDO:1201081" "MEDGEN:69229" + "PMID:29875488" "NCIt:C14192" "SNOMEDCT:34618005" "MeSH:D002417" @@ -127587,6 +127587,11 @@ "MeSH:C535969" "OMIM:120400" "UMLS:C1852752" + "MONDO:0006155" + "NCIT:C5497" + "UMLS:C1333084" + "MEDGEN:234158" + "EFO:1000188" "Orphanet:63446" "GARD:10605" "MESH:C564334" @@ -127595,11 +127600,6 @@ "DOID:0050604" "UMLS:C1843096" "MEDGEN:334681" - "MONDO:0006155" - "NCIT:C5497" - "UMLS:C1333084" - "MEDGEN:234158" - "EFO:1000188" "MP:0004016" "ICD10:Q87.8" "UMLS:C3808991" @@ -127694,10 +127694,10 @@ "MeSH:C070081" "PMID:21699443" "SNOMEDCT:404845006" + "SNOMEDCT:385519002" "CAS:129453-61-8" "PMID:25720568" "PMID:19369092" - "SNOMEDCT:385519002" "LINCS:LSM-6504" "PMID:21319872" "Drug_Central:1255" @@ -127738,7 +127738,6 @@ "Wikipedia:Cardiac_amyloidosis" "UMLS:C0268407" "MedDRA:10007509" - "MONDO:0006576" "MEDGEN:44205" "MESH:D008158" "ICD9:528.3" @@ -127746,6 +127745,7 @@ "Wikipedia:Ludwig's_angina" "UMLS:C0024081" "SCTID:196542004" + "MONDO:0006576" "RGD:1581618" "OMIM:617780" "UMLS:C4540434" @@ -128000,16 +128000,16 @@ "ICD9:517" "NCIt:C26871" "ICD10:J99" - "ICD9:516.8" "ICD10:J06" + "ICD9:516.8" "DOID:1579" "ICD9:519.3" "ICD9:510-519.99" "SNOMEDCT:50043002" "ICD9:V12.60" "SCTID:50043002" - "ICD9:508.1" "ICD10CM:J00-J99" + "ICD9:508.1" "MEDGEN:48421" "ICD9:516.9" "ICD10:J39" @@ -128043,16 +128043,16 @@ "SNOMEDCT_US:36649002" "SNOMEDCT_US:389026000" "UMLS:C0003962" - "NCIT:C4668" - "UMLS:C0349663" - "SCTID:278042005" - "MEDGEN:91164" "UMLS:C3890205" "NCIt:C119033" "MONDO:0019432" "GARD:3931" "Orphanet:85408" "MEDGEN:855549" + "NCIT:C4668" + "UMLS:C0349663" + "SCTID:278042005" + "MEDGEN:91164" "UMLS:C0085660" "UMLS:C0520474" "SNOMEDCT_US:398199007" @@ -128168,13 +128168,6 @@ "UMLS:C0342273" "HP:0008255" "MEDGEN:449530" - "UMLS:C2677535" - "MESH:C567425" - "Orphanet:157954" - "OMIM:612079" - "GARD:16987" - "MEDGEN:394313" - "DOID:0112244" "EFO:0007360" "SCTID:126550004" "MESH:D008441" @@ -128182,6 +128175,13 @@ "DOID:4618" "UMLS:C0024954" "MONDO:0005841" + "UMLS:C2677535" + "MESH:C567425" + "Orphanet:157954" + "OMIM:612079" + "GARD:16987" + "MEDGEN:394313" + "DOID:0112244" "MESH:C564732" "DOID:0110846" "OMIM:278740" @@ -128622,7 +128622,6 @@ "UMLS:C4693863" "OMIM:617993" "MEDGEN:1640532" - "NCIt:C4838" "MEDGEN:440690" "GARD:12766" "UMLS:C2749022" @@ -128632,6 +128631,7 @@ "OMIM:300801" "DOID:0060461" "MESH:C567585" + "NCIt:C4838" "SNOMEDCT_US:49601007" "ICD10:R09" "UMLS:C0007222" @@ -128969,9 +128969,9 @@ "OMIM:277440" "ICD10:E83.3" "OMIM:600785" - "PMID:29875488" "http://orcid.org/0000-0001-9043-693X" "Wikipedia:Remnant_cholesterol" + "PMID:29875488" "DOID:0110160" "MONDO:0014866" "UMLS:C4015635" @@ -129622,9 +129622,6 @@ "OMIM:300814" "MEDGEN:463102" "PMID:28240269" - "UMLS:C2931197" - "OMIM:600991" - "ICD10:Q87.8" "PMID:29875488" "MeSH:D001886" "NCIt:C76205" @@ -129644,6 +129641,9 @@ "OMIM:231000" "SCTID:5963005" "GARD:2443" + "UMLS:C2931197" + "OMIM:600991" + "ICD10:Q87.8" "PMID:28240269" "MedDRA:10052306" "UMLS:C5680106" @@ -129730,8 +129730,8 @@ "MESH:D044682" "FMA:14545" "galen:AscendingColon" - "EMAPA:35151" "CALOHA:TS-0057" + "EMAPA:35151" "MA:0001541" "EFO:0000843" "MAT:0000311" @@ -130534,20 +130534,11 @@ "MESH:D007636" "NCIT:C3146" "ICDO:8071/1" - "PMID:33357513" - "GARD:21522" - "UMLS:C4707306" - "Orphanet:352587" - "MEDGEN:1640999" - "ICD9:447.8" - "Orphanet:315" - "GARD:1722" - "SCTID:239062001" "MedDRA:10029117" "MESH:D009393" "ICD9:583.7" - "NCIT:C26833" "SCTID:52845002" + "NCIT:C26833" "MONDO:0001166" "MEDGEN:14328" "ICD9:583.9" @@ -130557,6 +130548,16 @@ "ICD10:N05" "ICD9:583.89" "ICD10:N12" + "PMID:33357513" + "GARD:21522" + "UMLS:C4707306" + "Orphanet:352587" + "MEDGEN:1640999" + "ICD9:447.8" + "Orphanet:315" + "GARD:1722" + "SCTID:239062001" + "PMID:37164013" "GARD:17101" "UMLS:C1970211" "MEDGEN:369682" @@ -130574,7 +130575,6 @@ "DOID:0110964" "OMIM:112500" "SCTID:715720006" - "PMID:37164013" "ICD10CM:A93.2" "MeSH:D003121" "SCTID:6452009" @@ -130641,9 +130641,9 @@ "COHD:437238" "UMLS:C0334298" "SCTID:253002004" + "ZFA:0001263" "ICD10:E76.2" "OMIM:601492" - "ZFA:0001263" "DOID:8211" "MEDGEN:273292" "UMLS:C1517111" @@ -131453,13 +131453,13 @@ "OMIM:601042" "UMLS:C1832855" "DOID:0090044" - "PMID:35347128" "PMID:26999359" "DOID:0080652" "UMLS:C5779632" "MEDGEN:1830325" "OMIM:167030" "SNOMEDCT:19741003" + "PMID:35347128" "GARD:17880" "RRID:CVCL_4056" "BTO:0002864" @@ -132206,6 +132206,7 @@ "MedDRA:10039438" "MedDRA:10039436" "MeSH:D012480" + "PMID:28240269" "NIF_Subcellular:sao1985096626" "SNOMEDCT:28135007" "NCIt:C32331" @@ -132213,7 +132214,6 @@ "GARD:15028" "MEDGEN:1826068" "Orphanet:442835" - "PMID:28240269" "UMLS:C1879344" "MEDGEN:360303" "NCIT:C6881" @@ -132239,8 +132239,8 @@ "ICD9:170.7" "SCTID:449627008" "PMID:23823483" - "PMID:29728394" "https://en.wikipedia.org/wiki/Cholesterylester_transfer_protein" + "PMID:29728394" "DOID:0050758" "UMLS:C0220981" "MEDGEN:65117" @@ -133091,18 +133091,18 @@ "OMIM:100050" "MedDRA:10067148" "OMIM:305400" + "PMID:29875488" "UMLS:C1865139" "MESH:C566516" "OMIM:602596" "MEDGEN:355383" "NCIt:C116204" - "PMID:29875488" + "PMID:29875488" "MEDGEN:1644708" "SCTID:766767001" "GARD:21698" "Orphanet:401820" "UMLS:C4707829" - "PMID:29875488" "PMID:36168886" "MeSH:D013586" "SNOMEDCT:95412009" @@ -133551,6 +133551,9 @@ "DOID:0050534" "OMIMPS:310500" "MESH:C536122" + "BTO:0001884" + "CLO:0007735" + "RRID:CVCL_0436" "UMLS:C1848873" "MESH:D001117" "ICD9:078.89" @@ -133558,9 +133561,6 @@ "MeSH:D001117" "SCTID:3303004" "MONDO:0005650" - "BTO:0001884" - "CLO:0007735" - "RRID:CVCL_0436" "PMID:33634981" "PMID:28738859" "UMLS:C4310656" @@ -133593,11 +133593,11 @@ "CAS:51146-56-6" "Beilstein:3590020" "ICD10:N97.2" - "PMID:29875488" "UMLS:C0276138" "MEDGEN:547112" "SCTID:89141000" "NCIT:C128381" + "PMID:29875488" "PMID:25799993" "PMID:35347128" "OMIM:305350" @@ -134195,7 +134195,6 @@ "NCIt:C381" "PDBeChem:CL6" "KEGG:D00282" - "MEDGEN:869" "MedDRA:10027134" "ICD10CM:H00.1" "MONDO:0005844" @@ -134206,6 +134205,7 @@ "MeSH:D017043" "MESH:D017043" "DOID:9903" + "MEDGEN:869" "MEDGEN:266071" "DOID:7319" "UMLS:C1263857" @@ -134363,11 +134363,11 @@ "OMIM:616005" "DOID:0111949" "UMLS:C4014934" + "UMLS:C4025355" "UMLS:C0265289" "OMIM:156500" "MeSH:C537352" "ICD10:Q78.5" - "UMLS:C4025355" "GARD:4954" "OMIM:608029" "Orphanet:284332" @@ -134606,6 +134606,7 @@ "UMLS:C4305024" "Orphanet:163971" "SCTID:719013004" + "PMID:29875488" "RRID:CVCL_3617" "CLO:0009485" "BTO:0002576" @@ -134643,7 +134644,6 @@ "PMID:3196084" "PMID:23543734" "PMID:18034796" - "PMID:29875488" "KEGG:D00054" "Gmelin:489332" "CAS:58-63-9" @@ -134706,6 +134706,11 @@ "NCIt:C84633" "UMLS:C0008489" "PMID:28240269" + "MEDGEN:412163" + "GARD:21742" + "Orphanet:418951" + "UMLS:C2188058" + "NCIT:C27422" "MeSH:D002305" "ICD9:423.3" "MONDO:0001297" @@ -134720,11 +134725,6 @@ "ICD10CM:I31.4" "ICD10:I31.4" "MedDRA:10007610" - "MEDGEN:412163" - "GARD:21742" - "Orphanet:418951" - "UMLS:C2188058" - "NCIT:C27422" "NCIT:C2976" "SCTID:190681003" "GARD:6236" @@ -135105,7 +135105,6 @@ "UMLS:C1837728" "MESH:C563895" "PMID:33462484" - "PMID:37164013" "PMID:29875488" "Orphanet:93441" "MESH:D002805" @@ -135117,6 +135116,7 @@ "NCIT:C34955" "UMLS:C0553730" "ICD9:712.1" + "PMID:37164013" "GARD:20109" "Orphanet:168966" "UMLS:C0545080" @@ -135246,13 +135246,13 @@ "EC:3.2.1.35" "Reactome:R-HSA-2160892" "Reactome:R-HSA-1793209" - "PMID:36006120" "ICD9:788.1" "SNOMEDCT:49650001" "MedDRA:10013990" "ICD10:R30" "NCIt:C2999" "MeSH:D053159" + "PMID:36006120" "UMLS:C0220686" "OMIM:147800" "MedDRA:10063429" @@ -135388,11 +135388,11 @@ "OMIM:617044" "GARD:17894" "PMID:35347128" + "PMID:23823483" "OMIM:620439" "Orphanet:652487" "MEDGEN:1841248" "UMLS:C5830612" - "PMID:23823483" "OMIM:614371" "UMLS:C3280582" "MEDGEN:482212" @@ -135577,8 +135577,8 @@ "NCIt:C45525" "NANDO:2100105" "UMLS:C0018824" - "MONDO:0002869" "SCTID:368009" + "MONDO:0002869" "MedDRA:10061406" "MEDGEN:5463" "ICD10:I08" @@ -136015,13 +136015,13 @@ "ICD10CM:C68.0" "DOID:734" "OMIM:614303" + "DOID:8481" "NCIT:C35202" "MEDGEN:56370" "UMLS:C0155557" "ICD9:391.9" "SCTID:195136004" "ICD9:398.0" - "DOID:8481" "PMID:23364568" "MEDGEN:C0002768" "PMID:92193" @@ -136242,8 +136242,8 @@ "PMID:26938448" "PMID:26606757" "PMID:11584934" - "PMID:22327112" "Patent:US2006235001" + "PMID:22327112" "PMID:26882015" "PMID:27297108" "PMID:28074607" @@ -136418,7 +136418,6 @@ "SNOMEDCT:8331005" "NCIt:C86288" "PMID:28240269" - "PMID:33634981" "Orphanet:68383" "ICD9:284.0" "ICD10CM:D61.0" @@ -136431,6 +136430,7 @@ "MEDGEN:1826154" "SCTID:28975000" "ICD9:284.09" + "PMID:33634981" "UMLS:C2169806" "OMIM:615590" "UMLS:C3810041" @@ -136460,6 +136460,7 @@ "UMLS:C0002896" "PMID:35347128" "PMID:36209301" + "PMID:30053915" "NCIT:C6995" "SCTID:93929003" "DOID:2816" @@ -136470,7 +136471,6 @@ "UMLS:C1332215" "DOID:7788" "ZFA:0001294" - "PMID:30053915" "PMID:28204635" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03175&Product=CC" "UMLS:C0855323" @@ -136526,13 +136526,13 @@ "Wikipedia:Precentral_gyrus" "NCIt:C74895" "SNOMEDCT:76609004" + "T3DB:T3D0966" "ICD9:170.9" "UMLS:C0855052" "DOID:3357" "NCIT:C8810" "SCTID:404077005" "MEDGEN:163186" - "T3DB:T3D0966" "MO:792" "PMID:1737356" "PMID:24816252" @@ -136626,13 +136626,13 @@ "MEDGEN:274490" "NCIT:C40099" "DOID:5598" - "ICD10:D50.8" - "OMIM:206200" "MEDGEN:4336" "NCIT:C34546" "ICD9:032.3" "SCTID:50215002" "UMLS:C0012557" + "ICD10:D50.8" + "OMIM:206200" "Orphanet:536467" "GARD:15947" "UMLS:C3809210" @@ -137133,8 +137133,8 @@ "ChemIDplus:88191-48-4 \"CAS Registry Number\"" "PMID:29604256" "PMID:24825545" - "PMID:26653744" "PMID:24266106" + "PMID:26653744" "MedDRA:10063945" "PMID:37164013" "GAID:198" @@ -137189,6 +137189,7 @@ "DOID:0060787" "MEDGEN:325157" "PMID:36006120" + "Wikipedia:Body_water" "ICD10:S12" "ICD10:T08" "MESH:D016103" @@ -137198,7 +137199,6 @@ "SCTID:50448004" "MONDO:0005309" "MedDRA:10041569" - "Wikipedia:Body_water" "Orphanet:466722" "MEDGEN:1800430" "UMLS:C5569007" @@ -137601,16 +137601,16 @@ "UMLS:C0006655" "Wikipedia:Calcaneus" "PMID:35050183" + "UMLS:C4707428" + "Orphanet:254803" + "MEDGEN:1637084" + "GARD:17225" "GARD:22329" "icd11.foundation:437591130" "MEDGEN:908476" "NANDO:1200193" "Orphanet:576379" "UMLS:C2349757" - "UMLS:C4707428" - "Orphanet:254803" - "MEDGEN:1637084" - "GARD:17225" "MEDGEN:1841196" "OMIM:620400" "UMLS:C5830560" @@ -137886,8 +137886,8 @@ "UMLS:C1838606" "MEDGEN:374010" "Orphanet:1352" - "UMLS:C4021984" "PMID:19347970" + "UMLS:C4021984" "UMLS:C4025352" "UMLS:C5436476" "DOID:0112114" @@ -138338,6 +138338,7 @@ "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03196&Product=CC" "GARD:21339" "Orphanet:309463" + "ICD10:Q82.8" "MESH:D000425" "SNOMEDCT:73097000" "UMLS:C0001940" @@ -138345,13 +138346,12 @@ "MEDGEN:1799" "SCTID:73097000" "MONDO:0021702" + "PMID:34982741" "SNOMEDCT_US:24614000" "Fyler:0190" "UMLS:C0266642" "SNOMEDCT_US:14821001" "Fyler:190" - "ICD10:Q82.8" - "PMID:34982741" "PMID:29875488" "PMID:36168886" "UMLS:C2931006" @@ -138513,9 +138513,13 @@ "MEDGEN:766875" "GARD:17486" "OMIM:614878" + "ICD10:E71.3" "VFB:FBbt_00001069" "FBbt:00001069" - "ICD10:E71.3" + "ICD10:G60.0" + "OMIM:302800" + "UMLS:C0393808" + "MeSH:C535919" "KEGG DRUG:D00804" "Wikipedia:Ivermectin" "PMID:18718154" @@ -138545,10 +138549,6 @@ "CiteXplore:21824728" "ChemIDplus:70288-86-7" "PMID:22039784" - "ICD10:G60.0" - "OMIM:302800" - "UMLS:C0393808" - "MeSH:C535919" "SNOMEDCT:11090009" "NCIt:C12749" "Wikipedia:Transmembrane_protein" @@ -139573,18 +139573,18 @@ "ICD9:362.10" "icd11.foundation:1216073790" "GARD:18912" + "OMIM:607371" + "ICD10:Q87.8" + "PMID:29875488" "OMIM:602613" "MESH:C566514" "MEDGEN:400685" "UMLS:C1865117" - "OMIM:607371" - "ICD10:Q87.8" "SCTID:254601002" "UMLS:C0345906" "DOID:270" "MEDGEN:87522" "NCIT:C4437" - "PMID:29875488" "HMDB:HMDB0012102" "Reaxys:25968936" "LIPID_MAPS_instance:LMSP03010005" @@ -140251,6 +140251,7 @@ "DOID:1983" "MEDGEN:67005" "MONDO:0005856" + "PMID:31367044" "KEGG:D00584" "DrugBank:DB00544" "CAS:51-21-8" @@ -140276,7 +140277,6 @@ "MeSH:D005472" "SNOMEDCT:415964000" "NCIt:C87519" - "PMID:31367044" "UMLS:C0079541" "OMIMPS:236100" "SCTID:30915001" @@ -140630,13 +140630,13 @@ "MEDGEN:268571" "PMID:29875488" "PMID:29875488" - "Reaxys:7641807" - "LIPID_MAPS_instance:LMFA08040010" "MEDGEN:930195" "UMLS:C4304526" "Orphanet:228415" "SCTID:719665003" "GARD:20595" + "Reaxys:7641807" + "LIPID_MAPS_instance:LMFA08040010" "PMID:35347128" "MEDGEN:78535" "UMLS:C0265205" @@ -140975,8 +140975,8 @@ "DOID:5165" "GARD:20476" "PMID:26212336" - "EHDAA:152" "EHDAA:127" + "EHDAA:152" "VHOG:0000683" "EMAPA:16067" "NCIT:C33919" @@ -141228,8 +141228,9 @@ "SCTID:422833009" "UMLS:C0279751" "NCIT:C8026" - "PMID:28240269" "PMID:24816252" + "PMID:28240269" + "FBbt:00004904" "UMLS:C4025279" "UMLS:C0935626" "AEO:0000094" @@ -141239,8 +141240,8 @@ "BTO:0000202" "NCIT:C33224" "EMAPA:35955" - "CALOHA:TS-2043" "MESH:D012679" + "CALOHA:TS-2043" "GAID:63" "EHDAA2:0001824" "WBbt:0006929" @@ -141254,7 +141255,6 @@ "UMLS:C5568123" "GARD:17939" "Orphanet:504530" - "FBbt:00004904" "GARD:12436" "Orphanet:90114" "UMLS:C5680178" @@ -141490,6 +141490,7 @@ "SO:0000624" "MESH:D006962" "MEDGEN:9368" + "MedDRA:10020708" "NCIT:C113335" "UMLS:C0020503" "NCIt:C113335" @@ -141498,7 +141499,6 @@ "MONDO:0006964" "DOID:12466" "HP:0000867" - "MedDRA:10020708" "MeSH:D006962" "PMID:21953190" "KNApSAcK:C00001508" @@ -141618,10 +141618,10 @@ "MEDGEN:21550" "NCIT:C129724" "MeSH:D013969" - "ICD10:Q92.3" "OMIM:617695" "ICD10:Q04.3" "OMIM:618266" + "ICD10:Q92.3" "OMIM:614527" "ICD10:Q93.5" "OMIM:613444" @@ -141772,8 +141772,8 @@ "UMLS:C0030521" "SCTID:127020005" "NCIT:C3313" - "ICD9:239.7" "MEDGEN:10586" + "ICD9:239.7" "UMLS:C0268127" "MedDRA:10070969" "SNOMEDCT:255554000" @@ -142044,13 +142044,13 @@ "NCIt:C41205" "PMID:29875488" "GARD:19086" - "PMID:33634981" "Orphanet:221008" "OMIM:618625" "GARD:17134" "MEDGEN:1684764" "NCIT:C178826" "UMLS:C5231433" + "PMID:33634981" "MEDGEN:639047" "GARD:16564" "MESH:C563984" @@ -142183,8 +142183,8 @@ "ICD9:157.2" "ICD9:157.0" "ICD9:157.8" - "MONDO:0009831" "ICD9:157.1" + "MONDO:0009831" "DOID:1793" "NCIt:C9005" "FBbt:00005476" @@ -142586,13 +142586,13 @@ "MEDGEN:1810936" "Orphanet:79085" "RRID:CVCL_6230" + "PMID:35347128" + "RRID:CVCL_D316" "MEDGEN:766913" "UMLS:C3553999" "GARD:15873" "OMIM:614882" "DOID:0080484" - "PMID:35347128" - "RRID:CVCL_D316" "DOID:10488" "NORD:1299" "OMIM:207500" @@ -142678,8 +142678,8 @@ "MedDRA:10084711" "NCIt:C4726" "PMID:35347128" - "MedDRA:10024394" "UMLS:C0022782" + "MedDRA:10024394" "ICD10:N48.0" "ICD9:607.0" "MeSH:D052798" @@ -142868,8 +142868,8 @@ "UMLS:C5436934" "OMIM:619167" "GARD:16430" - "PMID:29875488" "PMID:31530798" + "PMID:29875488" "NCIT:C34474" "ICD9:523.10" "UMLS:C0008684" @@ -143032,9 +143032,9 @@ "GARD:19184" "Orphanet:93400" "MEDGEN:1843300" + "PMID:28240269" "OMIM:611228" "ICD10:G60.0" - "PMID:28240269" "GARD:1503" "UMLS:C0345375" "SCTID:93255008" @@ -143075,8 +143075,8 @@ "OMIM:300845" "OMIM:106995" "ICD10:Q84.6" - "PMID:33204752" "PMID:23823483" + "PMID:33204752" "UMLS:C0028977" "EV:0100084" "CALOHA:TS-2004" @@ -143252,8 +143252,8 @@ "UMLS:C0206672" "DOID:3893" "EFO:1000967" - "NCIT:C3760" "MESH:D018251" + "NCIT:C3760" "MEDGEN:61656" "MedDRA:10059019" "SCTID:254725004" @@ -143299,6 +143299,7 @@ "ICD9:099.2" "NCIt:C92258" "SNOMEDCT:313995005" + "NCIt:C38003" "DOID:864" "SNOMEDCT:61599003" "NCIT:C38003" @@ -143310,7 +143311,6 @@ "ICD10:I80" "MeSH:D010689" "SCTID:61599003" - "NCIt:C38003" "PMID:24578530" "SNOMEDCT_US:267258002" "SNOMEDCT_US:276610007" @@ -143402,17 +143402,17 @@ "UMLS:C1858118" "MEDGEN:346746" "OMIM:604801" - "UMLS:C2987239" - "MONDO:0006347" - "NCIT:C95582" - "MEDGEN:459465" - "EFO:1000442" "PMID:36168886" "OMIM:608808" "DOID:0060771" "MESH:C563853" "MEDGEN:332422" "UMLS:C1837341" + "UMLS:C2987239" + "MONDO:0006347" + "NCIT:C95582" + "MEDGEN:459465" + "EFO:1000442" "PMID:35347128" "ICD10:G93" "ICD9:348.3" @@ -143481,13 +143481,13 @@ "SCTID:126966009" "NCIT:C2963" "MEDGEN:3263" + "PMID:24816252" "MESH:C565198" "UMLS:C1853154" "OMIM:610687" "MEDGEN:343979" "DOID:0110934" "GARD:15493" - "PMID:24816252" "Orphanet:1114" "HP:0001057" "ICD9:757.39" @@ -143907,9 +143907,6 @@ "icd11.foundation:274380122" "SCTID:230422001" "UMLS:C0393703" - "MEDGEN:1778777" - "OMIM:619255" - "UMLS:C5543241" "SNOMEDCT:35489007" "MEDGEN:6288" "MeSH:D003866" @@ -143919,6 +143916,9 @@ "UMLS:C0025193" "DOID:2848" "MedDRA:10027143" + "MEDGEN:1778777" + "OMIM:619255" + "UMLS:C5543241" "PMID:28240269" "OMIMPS:602483" "GARD:9798" @@ -144001,8 +144001,6 @@ "NCIT:C142173" "PMID:7528862" "RRID:CVCL_4802" - "UMLS:C0268517" - "ICD10:E72.8" "MESH:C566908" "NCIT:C148461" "UMLS:C4305153" @@ -144010,6 +144008,8 @@ "Orphanet:171680" "OMIM:611603" "MEDGEN:930822" + "UMLS:C0268517" + "ICD10:E72.8" "PMID:35668104" "SNOMEDCT:49370004" "NCIt:C25230" @@ -144033,6 +144033,11 @@ "UMLS:C1335689" "DOID:7356" "MEDGEN:235533" + "SCTID:398726004" + "MEDGEN:681135" + "DOID:849" + "ICD9:714.81" + "UMLS:C0994344" "Orphanet:90153" "MESH:C535705" "DOID:0081128" @@ -144042,11 +144047,6 @@ "GARD:3374" "UMLS:C5399785" "NCIT:C123417" - "SCTID:398726004" - "MEDGEN:681135" - "DOID:849" - "ICD9:714.81" - "UMLS:C0994344" "PO:0009015" "MAT:0000362" "BTO:0001432" @@ -144547,8 +144547,8 @@ "NIST Chemistry WebBook:537-46-2" "PMID:11711870" "PMID:11717374" - "DrugBank:DB01577" "PMID:11221576" + "DrugBank:DB01577" "PMID:18991862" "PMID:11984857" "PMID:11829406" @@ -144598,8 +144598,8 @@ "MeSH:D005438" "Wikipedia:Fludrocortisone" "KEGG:C07004" - "SNOMEDCT:116586002" "LIPID_MAPS_instance:LMST02030103" + "SNOMEDCT:116586002" "Beilstein:3014278" "NCIt:C71629" "CAS:127-31-1" @@ -144934,8 +144934,8 @@ "PMID:23823483" "NCIt:C12314" "BTO:0000907" - "NCIT:C39291" "MedDRA:10066435" + "NCIT:C39291" "MONDO:0005187" "UMLS:C1512508" "NCIt:C39291" @@ -145348,16 +145348,16 @@ "UMLS:C0023494" "PMID:24816252" "PMID:22820318" - "UMLS:C5231493" - "GARD:16376" - "MEDGEN:1684786" - "OMIM:618763" "NCIt:C12935" "MESH:D053595" "CALOHA:TS-0263" "SNOMEDCT:419965008" "BTO:0001086" "FMA:82841" + "UMLS:C5231493" + "GARD:16376" + "MEDGEN:1684786" + "OMIM:618763" "SNOMEDCT:85721008" "MeSH:D019545" "GARD:19535" @@ -145410,7 +145410,6 @@ "CALOHA:TS-0683" "SNOMEDCT:47220008" "FMA:54527" - "JAX:8075" "MEDGEN:1618" "NCIT:C101253" "SCTID:47040006" @@ -145419,6 +145418,7 @@ "MONDO:0005561" "ICD9:447.9" "UMLS:C0003493" + "JAX:8075" "NCIt:C12778" "OMIM:300554" "MEDGEN:335115" @@ -145659,13 +145659,13 @@ "UMLS:C1864695" "MEDGEN:400593" "GARD:12447" - "PMID:23823483" "Beilstein:8331263" "MeSH:C087876" "NCIt:C68370" "KEGG:C18727" "CAS:120928-09-8" "PPDB:292" + "PMID:23823483" "DOID:2598" "UMLS:C0153952" "MEDGEN:56325" @@ -146530,9 +146530,6 @@ "SNOMEDCT:113675004" "OMIM:101000" "MeSH:DO16518" - "BTO:0004404" - "CLO:0001985" - "RRID:CVCL_3454" "NCIt:C50807" "UMLS:C0423361" "MeSH:D020255" @@ -146544,6 +146541,9 @@ "MONDO:0007017" "MESH:D020255" "SCTID:53772007" + "BTO:0004404" + "CLO:0001985" + "RRID:CVCL_3454" "OMIM:149700" "MEDGEN:332018" "UMLS:C1835612" @@ -146570,7 +146570,6 @@ "Orphanet:238455" "NCIt:C72030" "MeSH:D028463" - "OMIM:601351" "ICD10:C67.8" "ICD10:C67.6" "GARD:11923" @@ -146592,6 +146591,7 @@ "ICD10:C67.1" "ONCOTREE:SCBC" "Orphanet:284400" + "OMIM:601351" "MEDGEN:1825987" "UMLS:C5681538" "GARD:19349" @@ -146768,15 +146768,6 @@ "ONCOTREE:COAD" "DOID:234" "Wikipedia:Plasmopara_viticola" - "ICD10:E75.2" - "MeSH:D052517" - "UMLS:C1720864" - "UMLS:C0268263" - "OMIM:272200" - "MedDRA:10028176" - "DOID:50441" - "SNOMEDCT:54898003" - "NCIt:C84908" "PMID:29875488" "MESH:D020751" "MEDGEN:65935" @@ -146786,6 +146777,15 @@ "GARD:18176" "UMLS:C3808889" "MEDGEN:815219" + "ICD10:E75.2" + "MeSH:D052517" + "UMLS:C1720864" + "UMLS:C0268263" + "OMIM:272200" + "MedDRA:10028176" + "DOID:50441" + "SNOMEDCT:54898003" + "NCIt:C84908" "NCIT:C12691" "SCTID:181308008" "UMLS:C0007770" @@ -146862,6 +146862,8 @@ "PMID:33717105" "MA:0000925" "FMA:61884" + "MeSH:C536664" + "UMLS:C1832200" "PMID:18348718" "GARD:6635" "Orphanet:36386" @@ -146871,8 +146873,6 @@ "DOID:0070162" "NORD:1237" "MEDGEN:5645" - "MeSH:C536664" - "UMLS:C1832200" "EFO:0002613" "NCIT:C35873" "MEDGEN:235203" @@ -147267,8 +147267,8 @@ "ICD10WHO:R95" "NCIt:C88418" "MeSH:D008570" - "PMID:28928442" "BTO:0000887" + "PMID:28928442" "GARD:21124" "MEDGEN:38147" "MESH:D016117" @@ -147373,10 +147373,10 @@ "Orphanet:289849" "GARD:17331" "PMID:24136358" - "MedDRA:10014141" - "DOID:11907" "UMLS:C0685787" "SNOMEDCT_US:92821006" + "MedDRA:10014141" + "DOID:11907" "MONDO:0001176" "ICD9:379.39" "ICD10:H27" @@ -147422,9 +147422,9 @@ "OMIM:615418" "NCIT:C129977" "DOID:0080335" - "PMID:29875488" "PMID:29875488" "MeSH:D007249" + "PMID:29875488" "MEDGEN:234294" "UMLS:C1333756" "DOID:4057" @@ -147981,8 +147981,8 @@ "UMLS:C0158698 (URINARY TRACT ANOMALY)" "UMLS:C4021821" "ICD10:R39" - "PMID:28360221" "PMID:31530798" + "PMID:28360221" "MEDGEN:767507" "OMIM:615147" "GARD:17529" @@ -148416,7 +148416,6 @@ "DOID:2870" "EFO:0005232" "UMLS:C1153706" - "PMID:26121980" "MESH:C567290" "Orphanet:250994" "DECIPHER:67" @@ -148425,6 +148424,7 @@ "MEDGEN:382715" "UMLS:C2675891" "GARD:10591" + "PMID:26121980" "Orphanet:98258" "UMLS:C5681523" "MEDGEN:1826124" @@ -148503,11 +148503,11 @@ "ICD10:Q87.8" "UMLS:C1859082" "OMIM:215850" - "PMID:24816252" "MEDGEN:102260" "NCIT:C116812" "SCTID:70572005" "UMLS:C0153252" + "PMID:24816252" "GARD:19556" "MedDRA:10061080" "Orphanet:98724" @@ -148608,8 +148608,8 @@ "MEDGEN:1794254" "OMIM:619661" "UMLS:C5562044" - "RRID:CVCL_V272" "CLO:0013998" + "RRID:CVCL_V272" "PMID:35347128" "Orphanet:168583" "GARD:17037" @@ -148745,6 +148745,7 @@ "galen:Excretion" "FMA:9674" "AEO:0000184" + "Patent:US4127580" "SNOMEDCT:386950000" "Patent:DE2404308" "DrugBank:DB00208" @@ -148762,7 +148763,6 @@ "Reaxys:1216802" "Wikipedia:Ticlopidine" "LINCS:LSM-1986" - "Patent:US4127580" "UMLS:C4305324" "SCTID:718633009" "Orphanet:281127" @@ -148857,8 +148857,8 @@ "SNOMEDCT:108395008" "NCIt:C47717" "Patent:DE1954268" - "CAS:28523-86-6" "MeSH:C009250" + "CAS:28523-86-6" "Beilstein:2041023" "Patent:US3689571" "KEGG:C07520" @@ -148969,9 +148969,9 @@ "Orphanet:95702" "NANDO:2200357" "OMIM:300200" - "DOID:0040089" "http://purl.obolibrary.org/obo/CMO_0000992" "PMID:29403010" + "DOID:0040089" "MedDRA:10073929" "ICD10:H35.0" "OMIM:607677" @@ -149189,11 +149189,11 @@ "MEDGEN:1843078" "ICD10CM:E70.3" "Orphanet:284811" + "SNOMEDCT:438106009" "UMLS:C3806644" "UMLS:C1866863" "UMLS:C1836451" "HP:0008944" - "SNOMEDCT:438106009" "OMIM:613643" "MEDGEN:462249" "UMLS:C3150899" @@ -149409,8 +149409,8 @@ "DOID:0050592" "Orphanet:474" "SCTID:75049004" - "PMID:35347128" "ICD10:G31.8" + "PMID:35347128" "OMIM:609254" "OMIM:266900" "OMIM:606996" @@ -149525,11 +149525,11 @@ "GAID:230" "CALOHA:TS-2343" "SCTID:272676008" + "PMID:31666285" "GARD:19800" "MEDGEN:1826133" "UMLS:C5681797" "Orphanet:101956" - "PMID:31666285" "MEDGEN:332193" "GARD:12535" "UMLS:C1836373" @@ -149588,10 +149588,6 @@ "Orphanet:1506" "GARD:18727" "PMID:29875488" - "UMLS:C2064434" - "NCIT:C5860" - "DOID:3254" - "MEDGEN:473530" "MedDRA:10064963" "OMIM:608328" "ICD10:Q87.0" @@ -149599,6 +149595,10 @@ "UMLS:C0265313" "MeSH:D056846" "OMIM:277600" + "UMLS:C2064434" + "NCIT:C5860" + "DOID:3254" + "MEDGEN:473530" "Patent:BE872585" "CiteXplore:21969105" "PMID:22059694" @@ -149900,9 +149900,9 @@ "UMLS:C4225208" "NCIt:C51812" "UMLS:C0311237" + "Wikipedia:Spindle_apparatus" "OMIM:616280" "ICD10:G60.0" - "Wikipedia:Spindle_apparatus" "Beilstein:3536580" "PDBeChem:IMD" "Gmelin:122674" @@ -149925,7 +149925,6 @@ "Orphanet:276234" "GARD:17277" "SNOMEDCT:433579005" - "UMLS:C0015027" "NCIT:C12711" "Wikipedia:Ethmoid_bone" "VHOG:0001317" @@ -149936,6 +149935,7 @@ "BTO:0004140" "MA:0001483" "GAID:212" + "UMLS:C0015027" "UMLS:C5575558" "MEDGEN:1826002" "GARD:17437" @@ -149982,11 +149982,6 @@ "MEDGEN:575191" "UMLS:C0342718" "GARD:17335" - "Orphanet:329336" - "UMLS:C4511138" - "MEDGEN:1393682" - "GARD:17503" - "SCTID:725464001" "EFO:1002017" "ICD10:C73" "MONDO:0015447" @@ -149997,6 +149992,11 @@ "GARD:12027" "MEDGEN:277876" "DOID:0080525" + "Orphanet:329336" + "UMLS:C4511138" + "MEDGEN:1393682" + "GARD:17503" + "SCTID:725464001" "UMLS:C0743086" "MONDO:0006555" "ICD10:L92" @@ -150006,16 +150006,16 @@ "DOID:4397" "RRID:CVCL_A2IR" "PMID:28421636" - "MEDGEN:767508" - "Orphanet:438117" - "UMLS:C3554594" - "GARD:17735" - "OMIM:615155" "UMLS:C0267918" "MEDGEN:82765" "SCTID:71912000" "NCIT:C35335" "DOID:9439" + "MEDGEN:767508" + "Orphanet:438117" + "UMLS:C3554594" + "GARD:17735" + "OMIM:615155" "SNOMEDCT:443831000124100" "DOID:0110202" "GARD:12437" @@ -150648,13 +150648,13 @@ "UMLS:C4510044" "MEDGEN:1389497" "Orphanet:66633" + "NCIT:C122690" "DOID:8170" "UMLS:C0345903" "SCTID:195469007" "MEDGEN:87519" "MONDO:0006549" "NCIT:C4435" - "NCIT:C122690" "OMIM:601560" "SCTID:768935003" "Orphanet:166016" @@ -151078,10 +151078,10 @@ "NCIt:C85864" "OMIM:204500" "BTO:0003761" - "NCIt:C117176" "RRID:CVCL_0535" "CLO:0009093" "MCC:0000434" + "NCIt:C117176" "MEDGEN:1809292" "UMLS:C5676973" "OMIM:619849" @@ -151333,10 +151333,10 @@ "DOID:8517" "DOID:8514" "UMLS:C0155671" - "PMID:34503513" "SNOMEDCT:32037004" "MedDRA:10056573" "MeSH:D005925" + "PMID:34503513" "WBls:0000724" "PMID:28240269" "UMLS:C4072940" @@ -151689,10 +151689,10 @@ "UMLS:C0029454" "SNOMEDCT_US:1926006" "SNOMEDCT_US:367489004" - "MeSH:D056830" - "PMID:29875488" "OMIM:126550" "ICD10:M85.8" + "MeSH:D056830" + "PMID:29875488" "PMID:24816252" "UMLS:C5568766" "Orphanet:528084" @@ -152030,6 +152030,8 @@ "UMLS:C0268575" "GARD:465" "RRID:CVCL_2458" + "UMLS:CN205528" + "Orphanet:68347" "UMLS:C2677109" "MEDGEN:383026" "MESH:C567390" @@ -152039,8 +152041,6 @@ "OMIM:612233" "NANDO:1200581" "GARD:17294" - "UMLS:CN205528" - "Orphanet:68347" "PMID:33634981" "PubChem:597" "KEGG COMPOUND:C00380" @@ -152364,10 +152364,10 @@ "NCIT:C5501" "MEDGEN:167703" "EFO:1000154" + "PMID:28240269" "UMLS:C3151038" "MEDGEN:462388" "OMIM:613737" - "PMID:28240269" "UMLS:C0553681" "SNOMEDCT_US:234457009" "NANDO:1200110" @@ -153506,6 +153506,7 @@ "OMIM:214800" "DOID:0050834" "MEDGEN:75567" + "EFO:0000799" "BTO:0001492" "VSAO:0000075" "FBbt:00007000" @@ -153523,7 +153524,6 @@ "BILA:0000018" "MAT:0000023" "CARO:0010003" - "EFO:0000799" "UMLS:C0241816" "UMLS:C0018179" "SNOMEDCT_US:45283008" @@ -153669,6 +153669,7 @@ "CiteXplore:18400206" "PMID:15292987" "FMA:67681" + "PMID:29875488" "PMID:28369058" "SCTID:733489002" "OMIM:614065" @@ -153688,7 +153689,6 @@ "GARD:10365" "UMLS:C0268468" "DOID:0111168" - "PMID:29875488" "GARD:17058" "Orphanet:169799" "MEDGEN:1826003" @@ -153781,7 +153781,6 @@ "UMLS:C5436637" "MEDGEN:1759445" "Orphanet:631076" - "PMID:29875488" "PMID:21357296" "PMID:18544347" "PMID:6056488" @@ -153792,6 +153791,7 @@ "KNApSAcK:C00002267" "KEGG:C10826" "CAS:77-59-8" + "PMID:29875488" "SCTID:763839005" "UMLS:C4016054" "Orphanet:284979" @@ -153922,11 +153922,11 @@ "Orphanet:1521" "SCTID:720757001" "GARD:428" - "PMID:28240269" "NCIT:C6246" "DOID:3258" "UMLS:C1335127" "MEDGEN:233267" + "PMID:28240269" "PMID:35347128" "PMID:35668104" "MESH:C535454" @@ -154139,7 +154139,6 @@ "OMIM:610140" "PMID:24816252" "Orphanet:295132" - "PMID:35347128" "PMID:28240269" "OMIM:618218" "GARD:17962" @@ -154150,6 +154149,7 @@ "MEDGEN:1668955" "UMLS:C4749824" "GARD:17153" + "PMID:35347128" "MEDGEN:481454" "Orphanet:183675" "OMIM:614102" @@ -154299,8 +154299,8 @@ "DOID:13081" "MEDGEN:146343" "http://www.uphs.upenn.edu/surgery/clinical/Plastic/hemangioma.html" - "SCTID:93473009" "EFO:1000707" + "SCTID:93473009" "NCIT:C8540" "MONDO:0006557" "MeSH:D008382" @@ -154314,13 +154314,13 @@ "DOID:3704" "UMLS:C1517119" "NCIT:C40103" - "PMID:15356126" "UMLS:C1332869" "DOID:0050910" "MEDGEN:272438" "NCIT:C5520" "EFO:1000155" "MONDO:0000525" + "PMID:15356126" "PMID:29875488" "PMID:37651920" "PMCID:PMC9625163" @@ -154398,8 +154398,8 @@ "MedDRA:10079410" "MeSH:D016739" "Orphanet:294990" - "EFO:0003494" "Wikipedia:Lens_placode" + "EFO:0003494" "UMLS:C1517770" "EMAPA:16672" "NCIT:C34202" @@ -156529,10 +156529,10 @@ "MESH:D014607" "NCIT:C85218" "DOID:12297" + "PMID:37596262" "ICD10:E72.2" "MedDRA:10058297" "OMIM:237300" - "PMID:37596262" "PMID:32641083" "UMLS:C0019572" "SNOMEDCT_US:399939002" @@ -156715,6 +156715,7 @@ "ICD9:210.4" "NCIT:C4411" "MEDGEN:87508" + "PMID:29875488" "OMIM:602473" "DOID:0060640" "MEDGEN:355966" @@ -156725,7 +156726,6 @@ "UMLS:C1865349" "Orphanet:459056" "OMIM:616680" - "PMID:29875488" "GARD:17347" "Orphanet:293910" "MEDGEN:1640757" @@ -156834,7 +156834,6 @@ "MEDGEN:462793" "UMLS:C3151443" "NCIt:C61154" - "PMID:29237677" "NCIT:C4286" "MEDGEN:1652407" "DOID:5563" @@ -156842,6 +156841,7 @@ "NCIT:C4287" "NCIT:C8884" "OMIM:620501" + "PMID:29237677" "ICD10:E70.1" "OMIM:261640" "OMIM:264070" @@ -157148,12 +157148,12 @@ "UMLS:CN202613" "ICD10:Q87.3" "Orphanet:276280" - "PMID:25917933" "MEDGEN:61646" "ICD9:239.2" "SCTID:254831005" "UMLS:C0206631" "NCIT:C4248" + "PMID:25917933" "PMID:35347128" "Orphanet:98566" "GARD:19500" @@ -157462,9 +157462,8 @@ "GARD:18430" "OMIM:616069" "UMLS:C4015130" - "ICD10:Q93.5" "PMID:31530798" - "PMID:35995766" + "ICD10:Q93.5" "Orphanet:3355" "MESH:C564760" "SCTID:766813000" @@ -157472,12 +157471,13 @@ "MEDGEN:481087" "GARD:5267" "OMIM:275450" + "PMID:35995766" "NCIt:C12427" "OMIM:161000" "ICD10:Q82.4" "PMID:29875488" - "PMID:28240269" "PMID:28369058" + "PMID:28240269" "NCIT:C6389" "DOID:3445" "MEDGEN:235088" @@ -157605,6 +157605,8 @@ "OMIM:607872" "ICD10:Q93.5" "MedDRA:10082398" + "ORCID:0000-0001-8222-008X" + "PMID:33462484" "ONCOTREE:DESM" "MEDGEN:232127" "UMLS:C1333280" @@ -157621,8 +157623,6 @@ "MESH:D001917" "SCTID:181002002" "Wikipedia:Brachial_plexus" - "ORCID:0000-0001-8222-008X" - "PMID:33462484" "OMIM:619467" "MEDGEN:1794162" "UMLS:C5561952" @@ -158026,23 +158026,23 @@ "GARD:0007236" "SNOMEDCT:19464000" "NCIt:C86199" + "PMID:37164013" + "PMID:29875488" "MEDGEN:234123" "DOID:6386" "NCIT:C6216" "UMLS:C1332950" - "PMID:37164013" + "PMID:30476138" + "NCIt:C64856" "UMLS:C0262444" "SNOMEDCT_US:422775003" "UMLS:C0040427" - "PMID:29875488" "DOID:0070249" "MESH:C567831" "MEDGEN:414476" "UMLS:C2751807" "OMIM:612998" "GARD:18206" - "PMID:30476138" - "NCIt:C64856" "MEDGEN:1826028" "GARD:20915" "Orphanet:263756" @@ -158147,17 +158147,17 @@ "UMLS:C1857813" "PMID:24816252" "Orphanet:295136" + "GARD:12166" + "Orphanet:228384" + "UMLS:C4304529" + "SCTID:719661007" + "MEDGEN:930198" "UMLS:C1849696" "MEDGEN:341514" "MESH:C564869" "Orphanet:2975" "OMIM:264270" "GARD:16617" - "GARD:12166" - "Orphanet:228384" - "UMLS:C4304529" - "SCTID:719661007" - "MEDGEN:930198" "UMLS:C5568143" "GARD:13527" "MEDGEN:1799566" @@ -158175,6 +158175,7 @@ "MONDO:0001942" "ICD10CM:F41.1" "MedDRA:10018105" + "UMLS:C4021873" "MeSH:D053040" "MeSH:D007669" "MONDO:0008171" @@ -158193,7 +158194,6 @@ "NCIt:C114667" "SCTID:266556005" "NCIT:C114667" - "UMLS:C4021873" "NCIt:C17723" "GARD:19278" "NANDO:2200313" @@ -158235,8 +158235,8 @@ "ICD10CM:A52.02" "MedDRA:10042900" "DOID:11582" - "ICD10:A52.02" "MONDO:0006992" + "ICD10:A52.02" "UMLS:C0003511" "UMLS:C0151798" "SNOMEDCT_US:87248009" @@ -158357,10 +158357,6 @@ "ICD10:Q43.8" "OMIM:249210" "UMLS:C1608393" - "UMLS:C4304413" - "MEDGEN:930082" - "Orphanet:319605" - "SCTID:719814009" "MEDGEN:9233" "MESH:D006559" "icd11.foundation:1405755890" @@ -158376,6 +158372,10 @@ "Orphanet:63275" "DOID:14482" "ICD9:646.80" + "UMLS:C4304413" + "MEDGEN:930082" + "Orphanet:319605" + "SCTID:719814009" "PMID:24816252" "PATO:0001338" "OMIM:606529" @@ -158469,9 +158469,9 @@ "MEDGEN:259599" "NANDO:2200369" "SCTID:15689008" - "RRID:CVCL_6771" "MeSH:D004756" "DOID:50360" + "RRID:CVCL_6771" "NCIt:C642" "SNOMEDCT:68887009" "Patent:US2512572" @@ -159284,13 +159284,13 @@ "MEDGEN:120571" "SCTID:32659003" "Orphanet:295209" - "PMID:28240269" "DOID:4706" "UMLS:C0751593" "MESH:D015192" "NCIT:C3139" "MEDGEN:199689" "NCIT:C4966" + "PMID:28240269" "PMID:35347128" "OMIM:226730" "DOID:0060733" @@ -159455,7 +159455,6 @@ "ICD10CM:E78.5" "PMID:37164013" "PMID:26068415" - "PMID:35347128" "MAT:0000282" "FMA:7208" "SAEL:53" @@ -159464,6 +159463,7 @@ "BTO:0000620" "MA:0000339" "XAO:0000237" + "PMID:35347128" "UMLS:C0012517" "NORD:705" "DOID:14422" @@ -160348,13 +160348,13 @@ "SCTID:713516007" "MEDGEN:220953" "UMLS:C1292753" - "UMLS:C3278123" "MONDO:0006265" "DOID:7144" "MEDGEN:233611" "UMLS:C1334378" "EFO:1000320" "NCIT:C6025" + "UMLS:C3278123" "ICD10:Q93.5" "MO:624" "SNOMEDCT:258771000" @@ -160516,16 +160516,16 @@ "OMIMPS:145000" "UMLS:C5680826" "GARD:20408" + "UMLS:C0342708" + "OMIM:613163" + "ICD10:E72.8" + "MeSH:C535407" "SCTID:734026006" "OMIM:309300" "GARD:12648" "Orphanet:91489" "UMLS:C4518341" "MEDGEN:1385311" - "UMLS:C0342708" - "OMIM:613163" - "ICD10:E72.8" - "MeSH:C535407" "MESH:D044343" "SCTID:302872003" "MEDGEN:219760" @@ -160565,6 +160565,8 @@ "SCTID:76047005" "MedDRA:10030345" "PMID:35347128" + "PubChem:9903482" + "CAS:56353-15-2" "PMID:33634981" "NCIT:C7636" "SCTID:267581004" @@ -160579,8 +160581,6 @@ "UMLS:C0751781" "GARD:5643" "Orphanet:101" - "PubChem:9903482" - "CAS:56353-15-2" "SNOMEDCT:79875007" "UMLS:C0031306" "DOID:3262" @@ -160805,7 +160805,6 @@ "NCIt:C67311" "PMID:37596262" "PMID:32641083" - "PMID:24816252" "SCTID:726707004" "DECIPHER:43" "MEDGEN:347562" @@ -160815,14 +160814,15 @@ "Orphanet:96121" "MESH:C565723" "OMIM:609757" + "PMID:24816252" "MA:0003165" "SCTID:181746004" - "BTO:0005281" "MESH:D007366" + "BTO:0005281" "Wikipedia:Intercostal_muscle" "FMA:13354" - "UMLS:C0021724" "EFO:0001368" + "UMLS:C0021724" "VHOG:0000903" "EMAPA:18521" "GAID:159" diff --git a/src/ontology/version.txt b/src/ontology/version.txt index 2d09e428..b24440d9 100644 --- a/src/ontology/version.txt +++ b/src/ontology/version.txt @@ -1 +1 @@ -3.68.0 +3.69.0