diff --git a/efo-base.owl b/efo-base.owl
index 7440c8ca..5361fe41 100644
--- a/efo-base.owl
+++ b/efo-base.owl
@@ -52,7 +52,7 @@
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
- 2024-08-02
+ 2024-08-08
3.68.0
@@ -264509,6 +264509,7 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676
+
The blood pressure during the contraction of the left ventricle of the heart.
Dani Welter
@@ -264526,6 +264527,7 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676
+
The blood pressure after the contraction of the heart while the chambers of the heart refill with blood.
Dani Welter
@@ -264665,6 +264667,7 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676
+
The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure.
Dani Welter
@@ -391014,6 +391017,10 @@ label: granulocyte colony-stimulating factor measurement
The ONT GridION X5 is a sequencing machine developed by Oxford Nanopore Technologies.
Dani Welter
+ GridION Mk1
+ GridION Sequencing Device Mk1
+ ONT GridION Mk1
+ Oxford Nanopore Technologies GridION Mk1
ONT GridION X5
@@ -453419,7 +453426,7 @@ Given EFO ID (http://www.ebi.ac.uk/efo/EFO_0010338) and replaced by http://purl.
Joannella Morales
true
PMID:23823483
- adipic acid mesurement
+ adipic acid measurement
@@ -454012,7 +454019,7 @@ Given EFO ID (http://www.ebi.ac.uk/efo/EFO_0010338) and replaced by http://purl.
Joannella Morales
true
PMID:23823483
- hypoxanthine mesurement
+ hypoxanthine measurement
@@ -454256,7 +454263,7 @@ Given EFO ID (http://www.ebi.ac.uk/efo/EFO_0010338) and replaced by http://purl.
Joannella Morales
true
PMID:23823483
- pantothenic acid mesurement
+ pantothenic acid measurement
@@ -517141,6 +517148,47 @@ Smart-seq3 is a continuation and improvement of the Smart-seq technology, specif
+
+
+
+
+ An immortalized human erythroid progenitor cell line.
+ Zoe May Pendlington
+ 2024-08-07T12:56:51Z
+ RRID:CVCL_VI06
+ HUDEP2
+ Human Umbilical cord blood-Derived Erythroid Progenitor-2
+ HUDEP-2
+
+
+
+
+ An immortalized human erythroid progenitor cell line.
+ PMID:23533656
+
+
+
+
+
+
+
+
+
+ Single-cell TOtal RNA Miniaturized sequencing. A full-length single-cell ribo-reduced RNA sequencing protocol, optimized to profile thousands of cells per run. STORM-seq is built upon the Takara SMART-seq Stranded kit, allowing use of off-the-shelf reagents and standard equipment.
+ https://orcid.org/0000-0003-1653-8449
+ Zoe May Pendlington
+ 2024-08-08T08:50:51Z
+ STORM-seq
+
+
+
+
+ Single-cell TOtal RNA Miniaturized sequencing. A full-length single-cell ribo-reduced RNA sequencing protocol, optimized to profile thousands of cells per run. STORM-seq is built upon the Takara SMART-seq Stranded kit, allowing use of off-the-shelf reagents and standard equipment.
+ https://doi.org/10.1101/2022.03.14.484332
+
+
+
+
@@ -568576,7 +568624,7 @@ Smart-seq3 is a continuation and improvement of the Smart-seq technology, specif
Quantification of visual masking, a phenomenon of visual perception which occurs when the visibility of one image, called a target, is reduced by the presence of another, called a mask. Timing arrangements include forward masking, backward masking, and simultaneous masking. Spatial arrangements include pattern masking and metacontrast. Visual masking deficits are potential schizophrenia endophenotypes.
true
- visual masking mesurement
+ visual masking measurement
@@ -577056,7 +577104,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu
-
+
@@ -577096,7 +577144,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu
-
+
@@ -577108,7 +577156,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu
-
+
EFO:0000784
@@ -581371,7 +581419,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu
-
+
@@ -581403,7 +581451,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu
-
+
@@ -581416,7 +581464,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu
-
+
EFO:0000784
@@ -584227,7 +584275,7 @@ Label : Disorder of carbohydrate metabolism
-
+
@@ -584272,7 +584320,7 @@ Label : Disorder of carbohydrate metabolism
-
+
@@ -584284,7 +584332,7 @@ Label : Disorder of carbohydrate metabolism
-
+
NCIT:C4827
@@ -605757,7 +605805,7 @@ Label : Disorder of carbohydrate metabolism
-
+
@@ -605804,7 +605852,7 @@ Label : Disorder of carbohydrate metabolism
-
+
@@ -605816,7 +605864,7 @@ Label : Disorder of carbohydrate metabolism
-
+
NCIT:C36207
@@ -607326,7 +607374,7 @@ Label : Disorder of carbohydrate metabolism
-
+
@@ -607351,7 +607399,7 @@ Label : Disorder of carbohydrate metabolism
-
+
@@ -607364,7 +607412,7 @@ Label : Disorder of carbohydrate metabolism
-
+
EFO:0000784
@@ -611208,7 +611256,7 @@ Label : Disorder of carbohydrate metabolism
-
+
@@ -611240,7 +611288,7 @@ Label : Disorder of carbohydrate metabolism
-
+
@@ -611254,7 +611302,7 @@ Label : Disorder of carbohydrate metabolism
-
+
EFO:0000784
@@ -621947,7 +621995,7 @@ Label : Disorder of carbohydrate metabolism
-
+
@@ -622071,7 +622119,7 @@ Label : Disorder of carbohydrate metabolism
-
+
@@ -622084,7 +622132,7 @@ Label : Disorder of carbohydrate metabolism
-
+
EFO:0000784
@@ -625842,7 +625890,7 @@ Label : Disorder of carbohydrate metabolism
-
+
@@ -625895,7 +625943,7 @@ Label : Disorder of carbohydrate metabolism
-
+
@@ -625910,7 +625958,7 @@ Label : Disorder of carbohydrate metabolism
-
+
EFO:0000784
@@ -626251,7 +626299,7 @@ Label : Disorder of carbohydrate metabolism
-
+
@@ -626292,7 +626340,7 @@ Label : Disorder of carbohydrate metabolism
-
+
@@ -626304,7 +626352,7 @@ Label : Disorder of carbohydrate metabolism
-
+
NCIT:C5907
@@ -652809,7 +652857,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma
-
+
@@ -652856,7 +652904,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma
-
+
@@ -652877,7 +652925,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma
-
+
EFO:0000784
@@ -654566,7 +654614,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma
-
+
@@ -654619,7 +654667,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma
-
+
@@ -654633,7 +654681,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma
-
+
EFO:0000784
@@ -655669,7 +655717,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma
-
+
@@ -655714,7 +655762,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma
-
+
@@ -655728,7 +655776,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma
-
+
EFO:0000784
@@ -658481,7 +658529,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma
-
+
@@ -658533,7 +658581,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma
-
+
@@ -658546,7 +658594,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma
-
+
EFO:0000784
@@ -714367,7 +714415,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715
-
+
@@ -714413,7 +714461,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715
-
+
@@ -714426,7 +714474,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715
-
+
EFO:0000784
@@ -730419,7 +730467,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715
-
+
@@ -730464,7 +730512,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715
-
+
@@ -730479,7 +730527,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715
-
+
EFO:0000784
@@ -730898,7 +730946,7 @@ Label: Moebius syndrome
-
+
A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.
@@ -730925,7 +730973,7 @@ Label: Moebius syndrome
-
+
@@ -730934,7 +730982,7 @@ Label: Moebius syndrome
-
+
NCIT:C2973
@@ -731756,7 +731804,7 @@ Label: Moebius syndrome
-
+
@@ -731815,7 +731863,7 @@ Label: Moebius syndrome
-
+
@@ -731835,7 +731883,7 @@ Label: Moebius syndrome
-
+
EFO:0000784
@@ -741866,7 +741914,7 @@ Label: Moebius syndrome
-
+
@@ -741918,7 +741966,7 @@ Label: Moebius syndrome
-
+
@@ -741931,7 +741979,7 @@ Label: Moebius syndrome
-
+
EFO:0000784
@@ -742406,7 +742454,7 @@ Label: Moebius syndrome
-
+
A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62)
POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.
Dani Welter
@@ -742453,7 +742501,7 @@ Label: Moebius syndrome
-
+
@@ -742478,7 +742526,7 @@ Label: Moebius syndrome
-
+
PMID:23398538
@@ -776052,7 +776100,7 @@ Label : noise-induced hearing loss
-
+
A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism.
Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)
Sirarat Sarntivijai
@@ -776089,7 +776137,7 @@ Label : noise-induced hearing loss
-
+
@@ -776110,7 +776158,7 @@ Label : noise-induced hearing loss
-
+
Orphanet:97349
@@ -799171,7 +799219,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi
-
+
@@ -799216,7 +799264,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi
-
+
@@ -799225,7 +799273,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi
-
+
NCIT:C3457
@@ -802172,7 +802220,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi
-
+
@@ -802237,7 +802285,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi
-
+
@@ -802250,7 +802298,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi
-
+
NCIT:C36077
diff --git a/src/ontology/imports/hp_import.owl b/src/ontology/imports/hp_import.owl
index 1c68236a..fc456897 100644
--- a/src/ontology/imports/hp_import.owl
+++ b/src/ontology/imports/hp_import.owl
@@ -59331,6 +59331,16 @@
+
+
+
+
+ Hyperplastic endometrium
+ Hyperplasia of the endometrium
+
+
+
+
diff --git a/src/ontology/imports/hp_terms.txt b/src/ontology/imports/hp_terms.txt
index c77a458f..be71b0c3 100644
--- a/src/ontology/imports/hp_terms.txt
+++ b/src/ontology/imports/hp_terms.txt
@@ -1780,6 +1780,7 @@ http://purl.obolibrary.org/obo/HP_0040223
http://purl.obolibrary.org/obo/HP_0040233
http://purl.obolibrary.org/obo/HP_0040269
http://purl.obolibrary.org/obo/HP_0040270
+http://purl.obolibrary.org/obo/HP_0040298
http://purl.obolibrary.org/obo/HP_0041051
http://purl.obolibrary.org/obo/HP_0045040
http://purl.obolibrary.org/obo/HP_0045046
diff --git a/src/ontology/iri_dependencies/hp_terms.txt b/src/ontology/iri_dependencies/hp_terms.txt
index ffab42b5..d1dbc9d7 100644
--- a/src/ontology/iri_dependencies/hp_terms.txt
+++ b/src/ontology/iri_dependencies/hp_terms.txt
@@ -1886,3 +1886,4 @@ http://purl.obolibrary.org/obo/HP_0011163
http://purl.obolibrary.org/obo/HP_0009589
http://purl.obolibrary.org/obo/HP_0032025
http://purl.obolibrary.org/obo/HP_0003233
+http://purl.obolibrary.org/obo/HP_0040298
diff --git a/src/ontology/reports/basic-report.tsv b/src/ontology/reports/basic-report.tsv
index dda23cf8..d5a4354b 100644
--- a/src/ontology/reports/basic-report.tsv
+++ b/src/ontology/reports/basic-report.tsv
@@ -110,7 +110,7 @@
"An increase in width in one or more phalanges of the big toe." "UMLS:C4021343"
"UMLS:C5193142 DOID:0070446 OMIM:618528 MEDGEN:1684495"
"An anomaly of the electrical conduction physiology of the heart."
- "The adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye." "MA:0000273 Wikipedia:Iris_(anatomy) BTO:0000653 NCIT:C12737 EFO:0004245 VHOG:0000101 TAO:0001238 XAO:0000185 GAID:917 MESH:D007498 AAO:0010347 EMAPA:19154 FMA:58235 ZFA:0001238 EV:0100345 SCTID:181164000 CALOHA:TS-0491 UMLS:C0022077"
+ "The adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye." "MA:0000273 Wikipedia:Iris_(anatomy) BTO:0000653 NCIT:C12737 EFO:0004245 VHOG:0000101 TAO:0001238 XAO:0000185 MESH:D007498 GAID:917 AAO:0010347 EMAPA:19154 FMA:58235 ZFA:0001238 EV:0100345 SCTID:181164000 CALOHA:TS-0491 UMLS:C0022077"
"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24"
"This syndrome is characterised 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." "OMIM:300707 ICD10:Q87.8"
"Brassica carinata x Brassica rapa is a synthesised trigenomic allohexaploid (AABBCC genome) that could be produced by crossing Brassica carinata (BBCC, 2n = 34) with Brassica rapa (AA, 2n = 20) and followed genome doubling." "PMID:22309095"
@@ -177,7 +177,7 @@
"The amount of a cyclic nucleotide-gated olfactory channel when measured in blood serum."
"The number of entities of this type that are part of the whole organism. "
"CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." "SCTID:720639008 GARD:310 MEDGEN:341214 OMIM:280000 Orphanet:3474 DOID:0112152 UMLS:C1848392 MESH:C536729"
- "Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." "NCIT:C85025 MedDRA:10029542 GARD:10793 Orphanet:100070 MESH:D057178 SCTID:716281000 MEDGEN:148373 UMLS:C0751706 DOID:0081390"
+ "Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." "NCIT:C85025 MedDRA:10029542 GARD:10793 Orphanet:100070 SCTID:716281000 MESH:D057178 MEDGEN:148373 UMLS:C0751706 DOID:0081390"
"An increased rate of urine production." "SNOMEDCT_US:28442001 ICD10:R35 UMLS:C0032617 SNOMEDCT:28442001 SNOMEDCT_US:718402002 NCIt:C118303 ICD9:788.42 SNOMEDCT_US:56574000"
"Cot filtration is an experimental process that uses DNA renaturation kinetics (i.e. Cot analysis) to separate repetitive DNA sequences that dominate many eukaryotic genomes from low-copy sequences which are more gene rich."
@@ -448,7 +448,7 @@
"A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)" "MONDO:0004981 SCTID:49436004 MESH:D001281 MedDRA:10003658 NANDO:2100051 MeSH:D001281 DOID:0060224 NANDO:2200226 ICD9:427.31 OMIM:611819 NCIT:C50466 HP:0005110 OMIM:615770 NCIt:C50466 UMLS:C0004238 MEDGEN:445 ICD10:I48 SNOMEDCT:49436004 OMIM:613120"
"A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." "UMLS:C0022797 NANDO:2201244 SCTID:62009002 NORD:1341 Orphanet:79262 GARD:10973 NANDO:1200155 MEDGEN:7230"
"A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13." "GARD:15532 DOID:0110460 UMLS:C2678474 MEDGEN:437214 OMIM:611880"
- "An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact." "ICD9CM:007.1 MONDO:0001103 MeSH:D005873 DOID:10718 SNOMEDCT:58265007 SCTID:10679007 MESH:D005873 SNOMEDCT:10679007 MEDGEN:42213 ICD9:007.1 UMLS:C0017536"
+ "An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact." "ICD9CM:007.1 MeSH:D005873 MONDO:0001103 DOID:10718 SNOMEDCT:58265007 SCTID:10679007 MESH:D005873 SNOMEDCT:10679007 MEDGEN:42213 ICD9:007.1 UMLS:C0017536"
"DOID:0081072 OMIMPS:213980"
"SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs." "NCIT:C123726 OMIM:611812 SCTID:723720008 UMLS:C2678492 GARD:10302 MESH:C567517 Orphanet:139466 MEDGEN:394528"
"Multi-tissue structure which is the largest portion of diencephalon and is ventrally located. The hypothalamus arises near the end of the segmentation period and the embryonic hypothalamic region gives rise to the neurohypophysis and other diencephalic nuclei." "EV:0100225 NIFSTD:birnlex_734 SAEL:52 EMAPA:17536 BTO:0000614 ZFA:0000032 TAO:0000032 FMA:62008 EHDAA:5446 NCIt:C22616 MA:0000173 MAT:0000112"
@@ -668,7 +668,7 @@
"Conceptual functions or thinking in all its forms." "NCIt:C16840 MeSH:D008606"
"ICD10:G90.8"
"quantification of an individual's susceptibility to childhood ear infections, generally as a count of number of infections suffered or a binary scale of presence or absence of childhood ear infections"
- "A female germ cell that has entered meiosis." "WBbt:0006797 MESH:D009865 ZFA:0001109 ZFA:0009008 FMA:18644 FBbt:00004886 BTO:0000964 SNOMEDCT:86082002 CALOHA:TS-0711 NCIt:C12598"
+ "A female germ cell that has entered meiosis." "WBbt:0006797 MESH:D009865 ZFA:0009008 ZFA:0001109 FMA:18644 FBbt:00004886 BTO:0000964 SNOMEDCT:86082002 CALOHA:TS-0711 NCIt:C12598"
"Quantification of thrombospondin type-1 domain-containing protein 7A in a sample." "PMID:29875488"
"The result of a measurement of circulating Mumps virus-specific antibodies" "PMID:30053915"
"NCIT:C179867 MEDGEN:411324 OMIM:400045 UMLS:C2748895 DOID:0111761"
@@ -1003,7 +1003,7 @@
"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine)." "Reactome:R-HSA-1604752 Reactome:R-HSA-1604690 Reactome:R-HSA-140599 Reactome:R-HSA-9023196 Reactome:R-HSA-1602488 Reactome:R-HSA-9666383 Reactome:R-HSA-2129357 Reactome:R-HSA-2514823 Reactome:R-HSA-140700 Reactome:R-HSA-2471842 Reactome:R-HSA-9673223 Reactome:R-HSA-1604722 Reactome:R-HSA-9710106 Reactome:R-HSA-183130 Reactome:R-HSA-9023633 Reactome:R-HSA-183122 Reactome:R-HSA-1602458 Reactome:R-HSA-1912369 Reactome:R-HSA-8865275 Reactome:R-HSA-9770187 Reactome:R-HSA-9023626 Reactome:R-HSA-1604359 Reactome:R-HSA-1474197 Reactome:R-HSA-9023178 Reactome:R-HSA-174551 Reactome:R-HSA-8874145 Reactome:R-HSA-140777 Reactome:R-HSA-1592314 Reactome:R-HSA-3785684 Reactome:R-HSA-140769 Reactome:R-HSA-381135 Reactome:R-HSA-2214330 Reactome:R-HSA-1602473 Reactome:R-HSA-8874212 Reactome:R-HSA-2534206 Reactome:R-HSA-8855825 Reactome:R-HSA-158311 Reactome:R-HSA-140664 Reactome:R-HSA-1454843 Reactome:R-HSA-3814820 Reactome:R-HSA-171288 Reactome:R-HSA-8874186 Reactome:R-HSA-9694287 Reactome:R-HSA-158747 Reactome:R-HSA-9033530 EC:3.4.21.- Reactome:R-HSA-5210912 Reactome:R-HSA-2168923 Reactome:R-HSA-6800200 Reactome:R-HSA-6800299 Reactome:R-HSA-2514772 Reactome:R-HSA-5691512 Reactome:R-HSA-2534160 Reactome:R-HSA-1602466 Reactome:R-HSA-158137 Reactome:R-HSA-265301 Reactome:R-HSA-1592371 Reactome:R-HSA-9686731 Reactome:R-HSA-9668365 Reactome:R-HSA-173680 Reactome:R-HSA-976743 Reactome:R-HSA-1566981 Reactome:R-HSA-166753 Reactome:R-HSA-3788061 Reactome:R-HSA-158925 Reactome:R-HSA-186785 Reactome:R-HSA-400496 Reactome:R-HSA-1604731 Reactome:R-HSA-1799329 Reactome:R-HSA-977371 Reactome:R-HSA-9670874 Reactome:R-HSA-5210935 Reactome:R-HSA-8874205 Reactome:R-HSA-1655842 Reactome:R-HSA-1592398 Reactome:R-HSA-9710263 Reactome:R-HSA-173745 Reactome:R-HSA-173631 Reactome:R-HSA-382061 Reactome:R-HSA-381446 Reactome:R-HSA-159771 Reactome:R-HSA-9655046 Reactome:R-HSA-158419 Reactome:R-HSA-9033529 Reactome:R-HSA-977615 Reactome:R-HSA-381798 Reactome:R-HSA-1604368 Reactome:R-HSA-3928657 Reactome:R-HSA-2471621 Reactome:R-HSA-163843 Reactome:R-HSA-159796 Reactome:R-HSA-1566962 Reactome:R-HSA-166817 Reactome:R-HSA-140823 Reactome:R-HSA-1592297 Reactome:R-HSA-8874206 Reactome:R-HSA-8865276 Reactome:R-HSA-3266557 Reactome:R-HSA-159728 Reactome:R-HSA-9023627 Reactome:R-HSA-5591040 Reactome:R-HSA-9830882 Reactome:R-HSA-422051 Reactome:R-HSA-170844 Reactome:R-HSA-8850831 Reactome:R-HSA-163798 Reactome:R-HSA-9694661 Reactome:R-HSA-1604712 Reactome:R-HSA-9033515 Reactome:R-HSA-6801687 Reactome:R-HSA-9829200 Reactome:R-HSA-140736 Reactome:R-HSA-1592270 Reactome:R-HSA-5578783 Reactome:R-HSA-9699007 Reactome:R-HSA-141040 Reactome:R-HSA-8849857 Reactome:R-HSA-1604763 Reactome:R-HSA-158942 Reactome:R-HSA-2022411 Reactome:R-HSA-159773 Reactome:R-HSA-2482180 Reactome:R-HSA-9662786 Reactome:R-HSA-9033524 Reactome:R-HSA-1592316 Reactome:R-HSA-159868 Reactome:R-HSA-9023632 Reactome:R-HSA-8849826 Reactome:R-HSA-1592362 Reactome:R-HSA-1592436 Reactome:R-HSA-422021 Reactome:R-HSA-1592278 Reactome:R-HSA-9829030 Reactome:R-HSA-187020 Reactome:R-HSA-9033520 Reactome:R-HSA-158313 Reactome:R-HSA-1912372 Reactome:R-HSA-381461 Reactome:R-HSA-158164 Reactome:R-HSA-9686710 Reactome:R-HSA-1604360 Reactome:R-HSA-2534260 Reactome:R-HSA-6800198 Reactome:R-HSA-2168960 Reactome:R-HSA-8852716 Reactome:R-HSA-166792 Reactome:R-HSA-2172405 Reactome:R-HSA-1604732 Reactome:R-HSA-140840 Reactome:R-HSA-173626 Reactome:R-HSA-5607002 Reactome:R-HSA-9033490 Reactome:R-HSA-9698988 Reactome:R-HSA-400459 Reactome:R-HSA-158750 Reactome:R-HSA-114697 Reactome:R-HSA-9769949 Reactome:R-HSA-158300 Reactome:R-HSA-141026 Reactome:R-HSA-140696 Reactome:R-HSA-381500 Reactome:R-HSA-400492 Reactome:R-HSA-1604741 Reactome:R-HSA-381466 Reactome:R-HSA-1566979 Reactome:R-HSA-9708859 Reactome:R-HSA-9830805 Reactome:R-HSA-158766 Reactome:R-HSA-158333 Reactome:R-HSA-140870 Reactome:R-HSA-9033506 Reactome:R-HSA-139893 Reactome:R-HSA-1181152 Reactome:R-HSA-159733 Reactome:R-HSA-158744 Reactome:R-HSA-9668253 Reactome:R-HSA-1602484 Reactome:R-HSA-8874204 Reactome:R-HSA-158982 Reactome:R-HSA-6807224 Reactome:R-HSA-9653249"
"OMIM:300534 ICD10:Q87.8"
"The amount of a phosphatidylcholine 16:0_18:0 when measured in blood serum."
- "NCIt:C29159 MeSH:D017706 SNOMEDCT:108575001 PDBeChem:LPR Wikipedia:Lisinopril SNOMEDCT:386873009 Drug_Central:1587 Beilstein:4276619 LINCS:LSM-5756 CAS:76547-98-3 DrugBank:DB00722"
+ "NCIt:C29159 MeSH:D017706 SNOMEDCT:108575001 PDBeChem:LPR Wikipedia:Lisinopril SNOMEDCT:386873009 Drug_Central:1587 Beilstein:4276619 LINCS:LSM-5756 DrugBank:DB00722 CAS:76547-98-3"
"Embryonic stem cells isolated from mix of ~20% C57/B6J, ~75% 129/Sv and ~5% SJL all male strains." "PMID:7638196"
"Quantification of DNA polymerase iota in a sample." "PMID:29875488"
"The amount of a disintegrin and metalloproteinase domain-containing protein 22 when measured in blood serum."
@@ -1086,7 +1086,7 @@
"A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." "EFO:1000402 UMLS:C3642471 MEDGEN:771111 NCIT:C53557 MONDO:0006324"
"Quantification of the amount of Creatine in a sample." "PMID:33634981"
- "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene." "MESH:C535698 OMIM:601887 MEDGEN:356151 UMLS:C1866077"
+ "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene." "UMLS:C1866077 MESH:C535698 OMIM:601887 MEDGEN:356151"
"OMIM:613832 ICD10:G40.3"
"The amount of a tripartite motif-containing protein 55 when measured in blood serum."
@@ -1175,7 +1175,7 @@
"The amount of a small nuclear ribonucleoprotein G when measured in blood serum."
"Quantification of the amount of 4-acetaminophen sulfate in a sample." "PMID:24816252"
- "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness." "OMIM:181430 UMLS:C0026848 NCIt:C101216 MedDRA:10028649 OMIM:300695 MEDGEN:10135 ICD9:728.3 DOID:423 MedDRA:10028641 ICD9:359.9 SCTID:129565002 NCIT:C101216 SCTID:75047002 ICD9:359.8 MONDO:0005336"
+ "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness." "OMIM:181430 UMLS:C0026848 OMIM:300695 NCIt:C101216 MedDRA:10028649 MEDGEN:10135 ICD9:728.3 DOID:423 MedDRA:10028641 ICD9:359.9 SCTID:129565002 NCIT:C101216 SCTID:75047002 ICD9:359.8 MONDO:0005336"
"OMIM:618272 UMLS:CN226190 ICD10:Q87.3 Orphanet:404476"
"The amount of a ankyrin repeat domain-containing protein 46 when measured in blood serum."
@@ -3039,7 +3039,7 @@
"SNOMEDCT:7224005"
"A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation." "UMLS:C0729264 DOID:0111144 MEDGEN:147582 OMIM:610504 SCTID:312974005 NCIT:C92862 MESH:C563032"
- "Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children." "OMIM:609322 UMLS:CN207484 MONDO:0020560 ICD10:C49.9 NANDO:2200101 GARD:16926 MEDGEN:226853 ICDO:9508/3 Orphanet:99966 ONCOTREE:ATRT EFO:1002008 UMLS:C1266184 NCIT:C6906 DOID:2129"
+ "Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children." "OMIM:609322 UMLS:CN207484 MONDO:0020560 ICD10:C49.9 NANDO:2200101 GARD:16926 MEDGEN:226853 ICDO:9508/3 ONCOTREE:ATRT Orphanet:99966 EFO:1002008 UMLS:C1266184 NCIT:C6906 DOID:2129"
"The result of a measurement of circulating antibodies specific to a bacillus phage virus antigen." "PMID:37164013"
"The amount of a alpha-2,8-sialyltransferase 8B when measured in blood serum."
"A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA." "MedDRA:10042751 ICD10:K22.4 MeSH:D015155 SNOMEDCT:79962008"
@@ -3366,7 +3366,7 @@
"UMLS:C3508773 Orphanet:99875 MEDGEN:854083"
"The amount of a guanine nucleotide-binding protein G(i) subunit alpha-1 when measured in blood serum."
- "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." "OMIM:181430 UMLS:C0026848 NCIt:C101216 MedDRA:10028649 OMIM:300695 MEDGEN:10135 ICD9:728.3 DOID:423 MedDRA:10028641 ICD9:359.9 SCTID:129565002 NCIT:C101216 SCTID:75047002 ICD9:359.8 MONDO:0005336"
+ "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." "OMIM:181430 UMLS:C0026848 OMIM:300695 NCIt:C101216 MedDRA:10028649 MEDGEN:10135 ICD9:728.3 DOID:423 MedDRA:10028641 ICD9:359.9 SCTID:129565002 NCIT:C101216 SCTID:75047002 ICD9:359.8 MONDO:0005336"
"The amount of a protein GOLM2 when measured in blood serum."
"CAS:50892-23-4 ChemIDplus:50892-23-4 Wikipedia:Pirinixic_Acid ChEMBL:162864 KEGG:C15617 MeSH:C006253 LINCS:LSM-2015 NCIt:C29866"
"P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." "NANDO:2200669 MESH:C565220 Orphanet:36355 SCTID:725291001 UMLS:C1853278 OMIM:609821 DOID:0060692 MEDGEN:344008 GARD:12478"
@@ -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 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"
+ "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"
"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)."
@@ -4100,7 +4100,7 @@
"Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene." "Orphanet:994 DOID:0111377 UMLS:C1276035 MEDGEN:220903 OMIM:208150"
"The determination of the amount of cytotoxic t-lymphocyte protein 4 in a sample" "PMID:28240269"
"A macrophage resident in the peritoneum under non-inflammatory conditions. Markers include F4/80-high, CD11b-high, CD68-positive, SIGNR1-positive, CD115-high, MHC-II-negative, and Dectin-1-positive." "ZFA:0009267 NCIt:C12566 FMA:83025 BTO:0001034"
- "A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma." "SCTID:63339007 UMLS:C0007867 MESH:D002577 NCIT:C40241 MEDGEN:2970 DOID:2253"
+ "A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma." "SCTID:63339007 UMLS:C0007867 MESH:D002577 MEDGEN:2970 NCIT:C40241 DOID:2253"
"Quantification of the amount of syringol sulfate in a sample." "PMID:35347128"
"The amount of a guanylyl cyclase-activating protein 2 when measured in blood serum."
@@ -4301,7 +4301,7 @@
"The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group."
- "An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground." "SCTID:53226007 SNOMEDCT:53226007 UMLS:C0016202 MONDO:0005293 NCIt:C34616 ICD9:734 MEDGEN:42034 NCIT:C34616 MESH:D005413 MeSH:D005413"
+ "An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground." "SCTID:53226007 SNOMEDCT:53226007 MONDO:0005293 UMLS:C0016202 NCIt:C34616 ICD9:734 MEDGEN:42034 NCIT:C34616 MESH:D005413 MeSH:D005413"
"quantification of some part of the renin-angiotensin-aldosterone system (RAAS), a central pathway in cardiovascular and renal physiology, critical for regulation of blood pressure and fluid balance and influencing cardiovascular remodeling"
@@ -4517,7 +4517,7 @@
"Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis)." "SCTID:765489006 NCIT:C121986 UMLS:C2931622 GARD:1345 MESH:C537813 Orphanet:1449 MEDGEN:419454"
"A presumptive structure that has the potential to develop into a midbrain." "BAMS:MES TAO:0000148 EFO:0003432 EHDAA2:0000615 EMAPA:16140 Wikipedia:Mesencephalon ZFA:0000148"
"The amount of a mitogen-activated protein kinase scaffold protein 1 when measured in blood serum."
- "Tuberculosis of the mouth, tongue, and salivary glands." "MONDO:0005887 MESH:D014393 UMLS:C0041323 MEDGEN:52888 ICD9:017.90 MedDRA:10076879 MeSH:D014393 DOID:402 SCTID:235067001 ICD9:528.9"
+ "Tuberculosis of the mouth, tongue, and salivary glands." "MONDO:0005887 MESH:D014393 UMLS:C0041323 MEDGEN:52888 ICD9:017.90 MeSH:D014393 MedDRA:10076879 DOID:402 SCTID:235067001 ICD9:528.9"
"Quantification of bakers yeast extract in blood plasma." "HMDB:0032173"
"Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." "UMLS:C4280613 SNOMEDCT_US:707598004 UMLS:C0024636 UMLS:C4280614 SNOMEDCT_US:47944004"
@@ -4747,7 +4747,7 @@
"A member of the class of acetamides that is acetamide in which one of the hydrogens attached to the nitrogen is substituted by a 4-ethoxyphenyl group." "KEGG:C07591 PMID:24201458 DrugBank:DB03783 CAS:62-44-2 Wikipedia:Phenacetin Drug_Central:2115 LINCS:LSM-2851 KEGG:D00569 Reaxys:1869238 PDBeChem:N4E Patent:US2887513 PMID:24447449"
"UMLS:C1969653 MEDGEN:369554 OMIM:611376 MESH:C548078"
- "A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma." "MEDGEN:60209 NCIT:C3775 MONDO:0006973 EFO:1001183 MESH:D018280 ONCOTREE:SKAC MedDRA:10040798 ICDO:8390/3 UMLS:C0206697"
+ "A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma." "NCIT:C3775 MONDO:0006973 EFO:1001183 MESH:D018280 ONCOTREE:SKAC MedDRA:10040798 ICDO:8390/3 UMLS:C0206697 MEDGEN:60209"
"A blood vessel that is part of a brain [Automatically generated definition]." "EMAPA:35182 MA:0002769"
"Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas." "UMLS:C0024454 Orphanet:163634 DOID:0060221 SCTID:46041001 GARD:0006958 ICD10:Q78.4 OMIM:614569 NCIT:C3213"
@@ -5011,7 +5011,7 @@
"A benzodiazepine that is 10H-thieno[2,3-b][1,5]benzodiazepine substituted by a methyl group at position 2 and a 4-methylpiperazin-1-yl group at position 4." "PMID:18504690 Reaxys:7655141 CAS:132539-06-1 PMID:18022155 DrugBank:DB00334 SNOMEDCT:386849001 Patent:US5229382 KEGG:C07322 Patent:EP454436 NCIt:C47639 KEGG:D00454 Wikipedia:Olanzapine Drug_Central:1982 MeSH:C076029 PMID:18792627 SNOMEDCT:108441004"
"Quantification of the amount of 3-Methylcrotonyl glycine in a sample." "PMID:33634981"
"Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region." "GARD:20075 UMLS:C4749346 Orphanet:166308 MEDGEN:1663004"
- "Epithelial tube that transports milk[GO]." "CALOHA:TS-2385 UMLS:C0222613 SCTID:361719004 MA:0000791 NCIT:C32910 EMAPA:35538 BTO:0002845 Wikipedia:Lactiferous_duct FMA:58006"
+ "Epithelial tube that transports milk[GO]." "CALOHA:TS-2385 UMLS:C0222613 SCTID:361719004 NCIT:C32910 MA:0000791 EMAPA:35538 BTO:0002845 Wikipedia:Lactiferous_duct FMA:58006"
"Mature CD8_alpha-low Langerhans cell is a CD8_alpha-low Langerhans cell that that is CD80-high, CD86-high, MHCII-high and is CD83-positive."
"An instance of cutis laxa that is acquired during the lifetime of the individual." "GARD:20586 SCTID:19726003 Orphanet:228285 MEDGEN:590500 UMLS:C0406549"
@@ -5746,7 +5746,7 @@
"Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." "OMIM:247990 GARD:144 MESH:C537714 MEDGEN:162900 UMLS:C0796024 Orphanet:2083"
"The amount of a B9 domain-containing protein 2 when measured in blood serum."
- "A single layer of simple squamous epithelium in the glomerular capsule. Does not function in filtration[UBERON]. outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium[MP]." "TAO:0005253 ZFA:0005253 MA:0002605 FMA:74272 NCIT:C33271 EMAPA:28260 EMAPA:35969 BTO:0002296 UMLS:C0227645 EMAPA:27979 SCTID:362218005"
+ "A single layer of simple squamous epithelium in the glomerular capsule. Does not function in filtration[UBERON]. outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium[MP]." "TAO:0005253 ZFA:0005253 FMA:74272 MA:0002605 NCIT:C33271 EMAPA:28260 EMAPA:35969 BTO:0002296 UMLS:C0227645 EMAPA:27979 SCTID:362218005"
"The amount of a membrane cofactor protein when measured in blood serum."
"Orphanet:102284"
@@ -5865,7 +5865,7 @@
"ICD10:Q93.5"
"OMIM:276950 ICD10:Q87.8 OMIM:314390"
- "A dentine-like hypermineralized substance that covers the tooth tip. Enamel's primary mineral is hydroxylapatite, which is a crystalline calcium phosphate. Unlike dentin and bone, enamel does not contain collagen. Instead, it has two unique classes of proteins called amelogenins and enamelins[WP]." "CALOHA:TS-1057 SCTID:362113009 EMAPA:35303 UMLS:C0011350 MA:0002543 VSAO:0000065 Wikipedia:Enamel_organ XAO:0004198 MESH:D003743 BTO:0001844 FMA:55629 NCIT:C32505"
+ "A dentine-like hypermineralized substance that covers the tooth tip. Enamel's primary mineral is hydroxylapatite, which is a crystalline calcium phosphate. Unlike dentin and bone, enamel does not contain collagen. Instead, it has two unique classes of proteins called amelogenins and enamelins[WP]." "SCTID:362113009 EMAPA:35303 UMLS:C0011350 MA:0002543 VSAO:0000065 Wikipedia:Enamel_organ XAO:0004198 MESH:D003743 BTO:0001844 FMA:55629 NCIT:C32505 CALOHA:TS-1057"
"quantification of the amount of chromogranin B cleavage product in a sample"
"MeSH:C537986 MeSH:C538078 ICD10:G60.0 OMIM:118300 UMLS:C1861669 UMLS:C2931686"
@@ -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"
@@ -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"
@@ -9966,7 +9966,7 @@
"Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion." "SCTID:12694001 SNOMEDCT:12694001 DOID:3933 MeSH:D000868 UMLS:C0003152 NCIt:C118422 MONDO:0006648 MEDGEN:1569 MESH:D000868"
"A disorder of the vasculature of the cornea." "DOID:10989 NCIT:C35116 ICD9:372.74 MEDGEN:12052 SCTID:74100001 UMLS:C0042370"
"The amount of a hepatoma-derived growth factor-like protein 1 when measured in blood serum."
- "A member of the class of barbiturates, the structure of which is that of barbituric acid substituted at C-5 by ethyl and phenyl groups." "Gmelin:336231 Drug_Central:2134 PMID:16789751 PMID:17481896 PMID:12873507 PMID:6716399 Reaxys:233363 PMID:8691481 PMID:15324906 PMID:3950916 PMID:1681105 PMID:10891117 PMID:1495012 PMID:16793262 PMID:1875341 PMID:16190747 PMID:3654008 PMID:3950919 PMID:2061925 PMID:12361404 PMID:8246220 CAS:50-06-6 PMID:2724304 Beilstein:233363 PMID:3820228 Wikipedia:Phenobarbital PMID:9016327 PMID:9544213 PMID:8035421 PMID:4032429 PMID:7562939 Patent:US1025872 PMID:7799408 PMID:2296016 PMID:17827020 PMID:8230125 PMID:17870541 PMID:2308142 SNOMEDCT:51073002 PMID:3735320 PMID:3336019 PMID:10866370 PMID:3783590 PMID:3572984 PMID:7381857 DrugBank:DB01174 PMID:17300161 NCIt:C739 PMID:2579237 MeSH:D010634 PMID:6864729 PMID:11311072 PMID:16139502 PMID:1992141 KEGG:D00506 PMID:2308141 PMID:3599019 PMID:3016269 HMDB:HMDB0015305 KEGG:C07434 PMID:6737420 PMID:8627613 PMID:15857133 PMID:7205879 PMID:2170646 SNOMEDCT:373505007 PMID:3783589"
+ "A member of the class of barbiturates, the structure of which is that of barbituric acid substituted at C-5 by ethyl and phenyl groups." "Gmelin:336231 Drug_Central:2134 PMID:16789751 PMID:17481896 PMID:12873507 PMID:6716399 Reaxys:233363 PMID:8691481 PMID:3950916 PMID:15324906 PMID:1681105 PMID:10891117 PMID:1495012 PMID:16793262 PMID:1875341 PMID:16190747 PMID:3654008 PMID:3950919 PMID:2061925 PMID:12361404 PMID:8246220 CAS:50-06-6 PMID:2724304 Beilstein:233363 PMID:3820228 Wikipedia:Phenobarbital PMID:9016327 PMID:9544213 PMID:8035421 PMID:4032429 PMID:7562939 Patent:US1025872 PMID:7799408 PMID:2296016 PMID:17827020 PMID:8230125 PMID:17870541 PMID:2308142 SNOMEDCT:51073002 PMID:3735320 PMID:3336019 PMID:10866370 PMID:3783590 PMID:3572984 PMID:7381857 DrugBank:DB01174 PMID:17300161 NCIt:C739 PMID:2579237 MeSH:D010634 PMID:6864729 PMID:11311072 PMID:16139502 PMID:1992141 KEGG:D00506 PMID:2308141 PMID:3599019 PMID:3016269 HMDB:HMDB0015305 KEGG:C07434 PMID:6737420 PMID:8627613 PMID:15857133 PMID:7205879 PMID:2170646 SNOMEDCT:373505007 PMID:3783589"
"An abnormally decreased level of immunoglobulin in blood." "SNOMEDCT_US:119250001 UMLS:C4048270 UMLS:C0086438"
"Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis." "MEDGEN:1637079 UMLS:C4706585 GARD:21762 Orphanet:423894"
@@ -10429,7 +10429,7 @@
"The maximum rate of gas flow, beginning at the point of peak inspiratory capacity, that can be sustained during forced exhalation for a defined period of time." "PMID:30804560 NCIt:C41372"
"Acute otitis media is a short and generally painful infection of the middle ear." "UMLS:C0271429 SNOMEDCT_US:3110003"
- "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"
+ "An epithelium that is part of a nasopharynx [Automatically generated definition]." "VHOG:0001038 CALOHA:TS-0662 EMAPA:17672 BTO:0004480 MA:0001865 NCIT:C49263 EHDAA2:0001241 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." "MEDGEN:76097 UMLS:C0280328 SCTID:707427000 NCIT:C8188 DOID:3752"
@@ -11574,7 +11574,7 @@
"Quantification of the amount of hexadecanedioate in a sample." "PMID:24816252"
"OMIM:614921 ICD10:E77.8"
- "Anatomical system that consists of all the joints of the body." "FMA:23878 VSAO:0000181 EMAPA:35150 MA:0003007 SCTID:361827000"
+ "Anatomical system that consists of all the joints of the body." "FMA:23878 EMAPA:35150 VSAO:0000181 MA:0003007 SCTID:361827000"
"An all pairs study design type is where all labeled extracts are compared to every other labeled extract." "MO:565"
"A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture." "UMLS:C4021028"
"Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia." "OMIM:608545 MEDGEN:325280 Orphanet:2370 UMLS:C1837884 MESH:C563914 GARD:16595"
@@ -11999,7 +11999,7 @@
"The determination of the amount of low-density lipoprotein receptor-related protein 8 in a sample" "PMID:28240269"
"quantification of the amount of interferon gamma in a sample"
- "Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present." "EFO:0000966 ZFA:0001115 MA:0000004 galen:Trunk NCIT:C33816 BTO:0001493 BILA:0000116 CALOHA:TS-1071 XAO:0000054 SCTID:262225004 AAO:0010339 MIAA:0000296 Wikipedia:Torso XAO:0003025 EMAPA:31857 FMA:7181 TAO:0001115 MAT:0000296 UMLS:C0460005"
+ "Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present." "EFO:0000966 ZFA:0001115 MA:0000004 galen:Trunk BTO:0001493 BILA:0000116 NCIT:C33816 CALOHA:TS-1071 XAO:0000054 SCTID:262225004 AAO:0010339 MIAA:0000296 Wikipedia:Torso XAO:0003025 EMAPA:31857 FMA:7181 TAO:0001115 MAT:0000296 UMLS:C0460005"
"OMIM:620748"
@@ -12162,7 +12162,7 @@
"The valve between the left atrium and left ventricle of the heart." "MeSH:D008943"
"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 cholinesterase inhbitor stimulus."
- "A viral infection of mice, causing edema and necrosis followed by limb loss." "DOID:3296 MeSH:D004482 MESH:D004482 MONDO:0005809"
+ "A viral infection of mice, causing edema and necrosis followed by limb loss." "MeSH:D004482 DOID:3296 MESH:D004482 MONDO:0005809"
"quantification of the pneumoprotein surfactant protein D. This protein is an innate immune protein and plays a role in pulmonary host defence and the modulation of allergic responses. Several human lung diseases are characterized by decreased levels of bronchoalveolar SP-D." "NCIt:C111322"
"Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated." "MEDGEN:483740 OMIM:221750 UMLS:C3489787 MESH:C536710 GARD:10603 Orphanet:231720"
"ICD9:291.89 DOID:251 ICD9:291.8 UMLS:C5200920 MEDGEN:1705315"
@@ -12474,7 +12474,7 @@
"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."
@@ -12662,7 +12662,7 @@
"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 MedDRA:10020708 UMLS:C0020503 NCIT:C113335 NCIt:C113335 SNOMEDCT:91478007 SCTID:91478007 MONDO:0006964 DOID:12466 HP:0000867 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"
@@ -14081,14 +14081,14 @@
"A choroid plexus carcinoma that occurs during childhood." "NCIT:C124292 MEDGEN:901899 UMLS:C1510426 DOID:3545"
"Beilstein:4851114 PMID:27626530 KEGG:D00289 PMID:17929794 PMID:18834112 Wikipedia:Danazol Patent:GB905844 PMID:34462405 PMID:24134630 DrugBank:DB01406 Drug_Central:779 CAS:17230-88-5 Chemspider:26436 Patent:US3135743"
- "A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura." "DOID:5364 UMLS:C0009250 MESH:D003074 MEDGEN:3522 EFO:1001133 ICD10:R91.1 MONDO:0006931"
+ "A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura." "DOID:5364 UMLS:C0009250 MESH:D003074 MEDGEN:3522 ICD10:R91.1 EFO:1001133 MONDO:0006931"
"A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain." "ICD9:121.8 MESH:D004011 MedDRA:10080485 MEDGEN:3813 MeSH:D004011 MONDO:0005729 SCTID:105668007 UMLS:C0012102 DOID:1219"
"An artery that is part of a respiratory system [Automatically generated definition]." "MA:0001804 EMAPA:37569"
"Quantification of the amount of X-12411 in a sample." "PMID:35347128"
"A bipolar disorder that is characterized by at least one manic or mixed episode." "PMID:31043756 DOID:14042 MedDRA:10004939 MedDRA:10068455"
"Quantification of ATPase family AAA domain-containing protein 1 in a sample." "PMID:29875488"
"A drug which lowers the blood glucose level." "SNOMEDCT:312064005"
- "Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels." "icd11.foundation:2057951941 UMLS:C2609129 NANDO:2200943 Orphanet:103919 MESH:D000081012 MEDGEN:750633 GARD:10911 SCTID:448542008 NANDO:1200925 MedDRA:10069002 DOID:0040091"
+ "Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels." "icd11.foundation:2057951941 UMLS:C2609129 NANDO:2200943 Orphanet:103919 MESH:D000081012 MEDGEN:750633 GARD:10911 NANDO:1200925 SCTID:448542008 MedDRA:10069002 DOID:0040091"
"Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis." "MEDGEN:183088 MONDO:0005623 SNOMEDCT:66944004 MeSH:D013967 DOID:7188 MESH:D013967 UMLS:C0920350 Wikipedia:Autoimmune_thyroiditis MedDRA:10049046"
"The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy." "UMLS:C0020514 SNOMEDCT_US:237662005"
@@ -14634,7 +14634,7 @@
"Quantification of the amount of oleoyl-linoleoyl-glycerol (18:1/18:2) [2] in a sample." "PMID:35347128"
"The amount of a mitotic spindle assembly checkpoint protein MAD1 when measured in blood serum."
- "A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement." "UMLS:C1384583 OMIM:305700 MESH:D054331 DOID:0050457 MeSH:D054331 MEDGEN:235163 ICD9:752.89 NCIT:C168988 MONDO:0010595 SCTID:73465006"
+ "A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement." "UMLS:C1384583 OMIM:305700 MESH:D054331 DOID:0050457 MEDGEN:235163 MeSH:D054331 ICD9:752.89 NCIT:C168988 MONDO:0010595 SCTID:73465006"
"A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma." "NCIT:C40276 UMLS:C1512974 MEDGEN:307683"
@@ -15744,7 +15744,7 @@
"Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." "MESH:C535770 OMIM:236660 MEDGEN:383828 SCTID:732926009 GARD:1666 UMLS:C1856051 Orphanet:2181"
"HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100"
"Quantification of the amount of X-12193 in a sample." "PMID:35347128"
- "A primary or metastatic neoplasm that affects the hypothalamus." "MONDO:0006799 NCIT:C3129 MEDGEN:5717 EFO:1000979 DOID:3644 MESH:D007029 UMLS:C0020659 SCTID:254968009"
+ "A primary or metastatic neoplasm that affects the hypothalamus." "SCTID:254968009 MONDO:0006799 NCIT:C3129 MEDGEN:5717 EFO:1000979 DOID:3644 MESH:D007029 UMLS:C0020659"
"Cold-induced vasodilation (CIVD) is an acute increase in peripheral blood flow observed during cold exposure."