diff --git a/efo-base.owl b/efo-base.owl index 22302eeb..7440c8ca 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 - 2024-08-01 + 2024-08-02 3.68.0 @@ -5646,6 +5646,12 @@ License. + + + + + + @@ -161923,38 +161929,27 @@ convert cytosine residues to uracil depending on methylation status) - + A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts. - An episode of depression lasting two or more weeks without an intervening episode of mania. Tomasz Adamusiak - https://github.com/monarch-initiative/mondo/issues/4521 + http://purl.obolibrary.org/obo/MONDO_0002009 true - major depressive disorder 1 - major depressive disorder 2 + 3.69.0 + Duplicate and requirement for OBA import. + +Please use: http://purl.obolibrary.org/obo/MONDO_0002009 DOID:1470 DOID:1595 DOID:2848 ICD10:F32 ICD10:F33 - ICD9:296.2 - ICD9:296.20 - ICD9:296.3 - ICD9:296.30 - MEDGEN:266123 - MESH:D003865 - MFOMD:0000143 - MONDO:0002009 MeSH:D003865 MedDRA:10045543 - NCIT:C35094 NCIt:C35094 OMIM:608516 - SCTID:300706003 - SCTID:370143000 SNOMEDCT:300706003 SNOMEDCT:321717001 SNOMEDCT:370143000 - UMLS:C1269683 DEPRESSIVE DIS DEPRESSIVE DIS MAJOR Depression @@ -162003,198 +161998,10 @@ convert cytosine residues to uracil depending on methylation status)Syndrome, Depressive Syndromes, Depressive Unipolar Depressions - major depression major depressive disorder - major depressive disorder and accelerated response to antidepressant drug treatment - major depressive disorder, response to citalopram therapy in - recurrent major depression - single major depressive episode - unipolar depression - unipolar depression, susceptibility to - EFO:0003761 - - unipolar depression - - - - - - - - - - - - - DOID:1470 - MESH:D003865 - NCIT:C35094 - - - - - An episode of depression lasting two or more weeks without an intervening episode of mania. - NCIT:P378 - - - - - major depressive disorder 1 - OMIM:608516 - OMIM:genemap2 - - - - - major depressive disorder 2 - OMIM:608516 - OMIM:genemap2 - - - - - DOID:1470 - EFO:0003761 - MONDO:equivalentTo - - - - - ICD9:296.2 - DOID:1470 - - - - - ICD9:296.20 - DOID:1470 - - - - - ICD9:296.3 - DOID:1470 - - - - - ICD9:296.30 - DOID:1470 - - - - - MEDGEN:266123 - MONDO:MEDGEN - MONDO:equivalentTo - - - - - MESH:D003865 - DOID:1470 - EFO:0003761 - MONDO:equivalentTo - - - - - NCIT:C35094 - EFO:0003761 - MONDO:equivalentTo - - - - - OMIM:608516 - EFO:0003761 - MONDO:equivalentTo - - - - - SCTID:300706003 - EFO:0003761 - MONDO:directSiblingOf - - - - - SCTID:370143000 - EFO:0003761 - MONDO:equivalentTo - - - - - UMLS:C1269683 - MEDGEN:266123 - MONDO:MEDGEN - MONDO:equivalentTo - - - - - major depression - NCIT:C35094 - - - - - major depressive disorder - NCIT:C35094 - - - - - major depressive disorder - preferred label from MONDO - - - - - major depressive disorder and accelerated response to antidepressant drug treatment - OMIM:608516 - OMIM:genemap2 - - - - - major depressive disorder, response to citalopram therapy in - OMIM:608516 - OMIM:genemap2 - - - - - recurrent major depression - DOID:1470 - - - - - single major depressive episode - DOID:1470 - - - - - unipolar depression - MONDO:0005263 - - - - - unipolar depression, susceptibility to - OMIM:608516 - OMIM:genemap2 - - - - - - MONDO:OTAR - + obsolete_unipolar depression + true + @@ -164629,7 +164436,7 @@ Label : Autosomal dominant hyper-IgE syndrome - + @@ -164713,7 +164520,7 @@ Label : Autosomal dominant hyper-IgE syndrome - + @@ -164732,7 +164539,7 @@ Label : Autosomal dominant hyper-IgE syndrome - + EFO:0000784 @@ -168730,7 +168537,7 @@ see https://github.com/ebispot/efo/issues/1381 - + @@ -168785,7 +168592,7 @@ see https://github.com/ebispot/efo/issues/1381 - + @@ -168798,7 +168605,7 @@ see https://github.com/ebispot/efo/issues/1381 - + EFO:0000784 @@ -174713,7 +174520,7 @@ label: genitourinary system - + @@ -174788,7 +174595,7 @@ label: genitourinary system - + @@ -174801,7 +174608,7 @@ label: genitourinary system - + EFO:0000784 @@ -175060,7 +174867,7 @@ label: genitourinary system - + @@ -175109,7 +174916,7 @@ label: genitourinary system - + @@ -175121,7 +174928,7 @@ label: genitourinary system - + EFO:0000784 @@ -179245,7 +179052,7 @@ New Label : Von Willebrand disease - + @@ -179289,7 +179096,7 @@ New Label : Von Willebrand disease - + @@ -179302,7 +179109,7 @@ New Label : Von Willebrand disease - + EFO:0000784 @@ -180086,7 +179893,7 @@ New Label : Von Willebrand disease - + @@ -180123,14 +179930,14 @@ New Label : Von Willebrand disease - + - + EFO:0000784 @@ -181086,7 +180893,7 @@ label: mitral valve - + @@ -181134,7 +180941,7 @@ label: mitral valve - + @@ -181147,7 +180954,7 @@ label: mitral valve - + EFO:0000784 @@ -181329,7 +181136,7 @@ label: mitral valve - + @@ -181361,7 +181168,7 @@ label: mitral valve - + @@ -181375,7 +181182,7 @@ label: mitral valve - + EFO:0000784 @@ -181446,7 +181253,7 @@ label: mitral valve - + @@ -181477,7 +181284,7 @@ label: mitral valve - + @@ -181492,7 +181299,7 @@ label: mitral valve - + EFO:0000784 @@ -182581,7 +182388,7 @@ New Label : Treacher-Collins syndrome - + @@ -182613,7 +182420,7 @@ New Label : Treacher-Collins syndrome - + @@ -182627,7 +182434,7 @@ New Label : Treacher-Collins syndrome - + EFO:0000784 @@ -182720,7 +182527,7 @@ New Label : Treacher-Collins syndrome - + @@ -182795,7 +182602,7 @@ New Label : Treacher-Collins syndrome - + @@ -182809,7 +182616,7 @@ New Label : Treacher-Collins syndrome - + NCIT:C26767 @@ -186137,7 +185944,7 @@ label: perineum - + @@ -186188,7 +185995,7 @@ label: perineum - + @@ -186200,7 +186007,7 @@ label: perineum - + EFO:0004142 @@ -193422,7 +193229,7 @@ New Label : Hirschsprung disease - + @@ -193466,7 +193273,7 @@ New Label : Hirschsprung disease - + @@ -193482,7 +193289,7 @@ New Label : Hirschsprung disease - + https://orcid.org/0000-0002-6601-2165 @@ -196989,7 +196796,7 @@ New Label : Moyamoya disease - + A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome. Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body. Dani Welter @@ -197033,7 +196840,7 @@ New Label : Moyamoya disease - + @@ -197050,7 +196857,7 @@ New Label : Moyamoya disease - + NCIT:C35117 @@ -197662,7 +197469,7 @@ New Label : Moyamoya disease - + @@ -197711,7 +197518,7 @@ New Label : Moyamoya disease - + @@ -197725,7 +197532,7 @@ New Label : Moyamoya disease - + EFO:0000784 @@ -198761,7 +198568,7 @@ New Label : Familial sick sinus syndrome - + @@ -198839,7 +198646,7 @@ New Label : Familial sick sinus syndrome - + @@ -198853,7 +198660,7 @@ New Label : Familial sick sinus syndrome - + EFO:0000784 @@ -204510,7 +204317,7 @@ New Label : Bronchopulmonary dysplasia - + @@ -204557,7 +204364,7 @@ New Label : Bronchopulmonary dysplasia - + @@ -204586,7 +204393,7 @@ New Label : Bronchopulmonary dysplasia - + EFO:0000784 @@ -210167,7 +209974,7 @@ New Label : Thyrotoxic periodic paralysis - + @@ -210208,7 +210015,7 @@ New Label : Thyrotoxic periodic paralysis - + @@ -210230,7 +210037,7 @@ New Label : Thyrotoxic periodic paralysis - + EFO:0000784 @@ -222556,7 +222363,7 @@ Small-inducible cytokine A11. - + A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma. @@ -222593,7 +222400,7 @@ Small-inducible cytokine A11. - + @@ -222605,7 +222412,7 @@ Small-inducible cytokine A11. - + NCIT:C5670 @@ -231502,7 +231309,7 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where - + @@ -231527,7 +231334,7 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where - + @@ -231540,7 +231347,7 @@ Sira's response: seperate out HCA and HCS. This is different from ERO where - + EFO:0000784 @@ -245547,7 +245354,7 @@ The lesions appear in various colors, from light tan to black. They are round or - + Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. true @@ -245568,14 +245375,14 @@ The lesions appear in various colors, from light tan to black. They are round or - + - + EFO:0000784 @@ -245807,7 +245614,7 @@ The lesions appear in various colors, from light tan to black. They are round or - + @@ -245837,7 +245644,7 @@ The lesions appear in various colors, from light tan to black. They are round or - + @@ -245852,7 +245659,7 @@ The lesions appear in various colors, from light tan to black. They are round or - + EFO:0000784 @@ -247782,7 +247589,7 @@ A detailed classification of surgical dressings is prepared and maintained by th - + @@ -247817,7 +247624,7 @@ A detailed classification of surgical dressings is prepared and maintained by th - + @@ -247836,7 +247643,7 @@ A detailed classification of surgical dressings is prepared and maintained by th - + EFO:0000784 @@ -253858,7 +253665,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full - + @@ -253906,7 +253713,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full - + @@ -253919,7 +253726,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full - + EFO:0005769-modified @@ -255960,7 +255767,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full - + @@ -255997,7 +255804,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full - + @@ -256011,7 +255818,7 @@ http://humupd.oxfordjournals.org/content/13/2/103.full - + EFO:0000784 @@ -272932,7 +272739,7 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 - + @@ -272974,7 +272781,7 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 - + @@ -272995,7 +272802,7 @@ Use: http://purl.obolibrary.org/obo/CHEBI_22676 - + EFO:0006510-isa @@ -302957,7 +302764,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - + @@ -303017,7 +302824,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - + @@ -303043,7 +302850,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - + EFO:0000784 @@ -306394,7 +306201,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - + A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents. A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals. Sirarat Sarntivijai @@ -306409,7 +306216,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql=bovine respiratory disease complex - + @@ -306422,7 +306229,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - + https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-5002-8648 @@ -306459,7 +306266,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - + A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea. Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality. Sirarat Sarntivijai @@ -306478,7 +306285,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - + @@ -306497,7 +306304,7 @@ See ticket : https://www.ebi.ac.uk/panda/jira/browse/FGPTO-1114?jql= - + https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-5002-8648 https://www.merckvetmanual.com/ @@ -330732,7 +330539,7 @@ Label : Hemophilia A - + @@ -330763,7 +330570,7 @@ Label : Hemophilia A infectious ectromelia - + @@ -330776,7 +330583,7 @@ Label : Hemophilia A - + https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-5002-8648 @@ -330986,7 +330793,7 @@ Label : Hemophilia A - + A viral infectious disease that results in infection located in eyes or located in upper respiratory tract of domestic rabbits, has material basis in Myxoma virus, which is transmitted by mosquitos, transmitted by biting flies or transmitted by direct contact. The infection has symptom conjunctivitis with a milky discharge from the inflamed eye and has symptom breathing difficulties. A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties. Sirarat Sarntivijai @@ -331000,7 +330807,7 @@ Label : Hemophilia A infectious myxomatosis - + @@ -331013,7 +330820,7 @@ Label : Hemophilia A - + https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-5002-8648 https://www.merckvetmanual.com/ @@ -332759,7 +332566,7 @@ Label : Klippel-Trénaunay syndrome - + @@ -332807,7 +332614,7 @@ Label : Klippel-Trénaunay syndrome - + @@ -332822,7 +332629,7 @@ Label : Klippel-Trénaunay syndrome - + EFO:0000784 @@ -351444,8 +351251,8 @@ Label : Leg-Calvé-Perthes disease + - A type of clinical depression that occurs after childbirth. An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth. @@ -351655,7 +351462,7 @@ Label : Leg-Calvé-Perthes disease - + @@ -351721,7 +351528,7 @@ Label : Leg-Calvé-Perthes disease - + @@ -351735,7 +351542,7 @@ Label : Leg-Calvé-Perthes disease - + EFO:0000784 @@ -355452,7 +355259,7 @@ Label : Leg-Calvé-Perthes disease - + @@ -355484,7 +355291,7 @@ Label : Leg-Calvé-Perthes disease - + @@ -355500,7 +355307,7 @@ Label : Leg-Calvé-Perthes disease - + EFO:0000784 @@ -414539,31 +414346,31 @@ It allows sampling of specific cells under direct microscopic visualization. A f - + - + - + - + - + @@ -435822,7 +435629,7 @@ Also see: https://github.com/EBISPOT/efo/issues/913 - + @@ -435873,7 +435680,7 @@ Also see: https://github.com/EBISPOT/efo/issues/913 - + @@ -435893,7 +435700,7 @@ Also see: https://github.com/EBISPOT/efo/issues/913 - + NCIT:C27166 @@ -442464,7 +442271,7 @@ Also see: https://github.com/EBISPOT/efo/issues/913 - + Unipolar depression that does not respond to commonly used treatments, typically defined as lack of response to at least two appropriate antidepressant treatments. Aoife McMahon true @@ -577249,7 +577056,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu - + @@ -577289,7 +577096,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu - + @@ -577301,7 +577108,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu - + EFO:0000784 @@ -581564,7 +581371,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu - + @@ -581596,7 +581403,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu - + @@ -581609,7 +581416,7 @@ A syndrome typically consisting of angina (cardiac chest pain) at rest that occu - + EFO:0000784 @@ -584420,7 +584227,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -584465,7 +584272,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -584477,7 +584284,7 @@ Label : Disorder of carbohydrate metabolism - + NCIT:C4827 @@ -605950,7 +605757,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -605997,7 +605804,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -606009,7 +605816,7 @@ Label : Disorder of carbohydrate metabolism - + NCIT:C36207 @@ -607519,7 +607326,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -607544,7 +607351,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -607557,7 +607364,7 @@ Label : Disorder of carbohydrate metabolism - + EFO:0000784 @@ -611401,7 +611208,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -611433,7 +611240,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -611447,7 +611254,7 @@ Label : Disorder of carbohydrate metabolism - + EFO:0000784 @@ -622140,7 +621947,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -622264,7 +622071,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -622277,7 +622084,7 @@ Label : Disorder of carbohydrate metabolism - + EFO:0000784 @@ -626035,7 +625842,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -626088,7 +625895,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -626103,7 +625910,7 @@ Label : Disorder of carbohydrate metabolism - + EFO:0000784 @@ -626444,7 +626251,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -626485,7 +626292,7 @@ Label : Disorder of carbohydrate metabolism - + @@ -626497,7 +626304,7 @@ Label : Disorder of carbohydrate metabolism - + NCIT:C5907 @@ -653002,7 +652809,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + @@ -653049,7 +652856,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + @@ -653070,7 +652877,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + EFO:0000784 @@ -654759,7 +654566,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + @@ -654812,7 +654619,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + @@ -654826,7 +654633,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + EFO:0000784 @@ -655862,7 +655669,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + @@ -655907,7 +655714,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + @@ -655921,7 +655728,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + EFO:0000784 @@ -658674,7 +658481,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + @@ -658726,7 +658533,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + @@ -658739,7 +658546,7 @@ Use: http://www.ebi.ac.uk/efo/EFO_0000197 Label: mucinous carcinoma - + EFO:0000784 @@ -714560,7 +714367,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - + @@ -714606,7 +714413,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - + @@ -714619,7 +714426,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - + EFO:0000784 @@ -730612,7 +730419,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - + @@ -730657,7 +730464,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - + @@ -730672,7 +730479,7 @@ Use: http://purl.obolibrary.org/obo/MONDO_0006715 - + EFO:0000784 @@ -731091,7 +730898,7 @@ 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. @@ -731118,7 +730925,7 @@ Label: Moebius syndrome - + @@ -731127,7 +730934,7 @@ Label: Moebius syndrome - + NCIT:C2973 @@ -731949,7 +731756,7 @@ Label: Moebius syndrome - + @@ -732008,7 +731815,7 @@ Label: Moebius syndrome - + @@ -732028,7 +731835,7 @@ Label: Moebius syndrome - + EFO:0000784 @@ -742059,7 +741866,7 @@ Label: Moebius syndrome - + @@ -742111,7 +741918,7 @@ Label: Moebius syndrome - + @@ -742124,7 +741931,7 @@ Label: Moebius syndrome - + EFO:0000784 @@ -742599,7 +742406,7 @@ 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 @@ -742646,7 +742453,7 @@ Label: Moebius syndrome - + @@ -742671,7 +742478,7 @@ Label: Moebius syndrome - + PMID:23398538 @@ -776245,7 +776052,7 @@ 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 @@ -776282,7 +776089,7 @@ Label : noise-induced hearing loss - + @@ -776303,7 +776110,7 @@ Label : noise-induced hearing loss - + Orphanet:97349 @@ -799364,7 +799171,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - + @@ -799409,7 +799216,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - + @@ -799418,7 +799225,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - + NCIT:C3457 @@ -802365,7 +802172,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - + @@ -802430,7 +802237,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - + @@ -802443,7 +802250,7 @@ It is caused by a number of types of infection such as bacteria, viruses, parasi - + NCIT:C36077 diff --git a/src/ontology/components/mondo_efo_import.owl b/src/ontology/components/mondo_efo_import.owl index 7ae2e7e4..0986fa4e 100644 --- a/src/ontology/components/mondo_efo_import.owl +++ b/src/ontology/components/mondo_efo_import.owl @@ -1456,6 +1456,7 @@ Declaration(Class(obo:MONDO_0001991)) Declaration(Class(obo:MONDO_0001999)) Declaration(Class(obo:MONDO_0002000)) Declaration(Class(obo:MONDO_0002004)) +Declaration(Class(obo:MONDO_0002009)) Declaration(Class(obo:MONDO_0002012)) Declaration(Class(obo:MONDO_0002013)) Declaration(Class(obo:MONDO_0002014)) @@ -13889,7 +13890,6 @@ Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) -Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) @@ -31913,6 +31913,46 @@ EquivalentClasses(obo:MONDO_0002004 ObjectIntersectionOf() SubClassOf(Annotation(oboInOwl:source "DOID:1460") Annotation(oboInOwl:source "MONDO:Entailed") Annotation(oboInOwl:source "MONDO:Redundant") obo:MONDO_0002004 ) +# Class: obo:MONDO_0002009 (major depressive disorder) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:P378") obo:IAO_0000115 obo:MONDO_0002009 "An episode of depression lasting two or more weeks without an intervening episode of mania.") +AnnotationAssertion(obo:IAO_0000233 obo:MONDO_0002009 "https://github.com/monarch-initiative/mondo/issues/4521"^^xsd:anyURI) +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:608516") Annotation(oboInOwl:hasDbXref "OMIM:genemap2") oboInOwl:hasBroadSynonym obo:MONDO_0002009 "major depressive disorder 1") +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:608516") Annotation(oboInOwl:hasDbXref "OMIM:genemap2") oboInOwl:hasBroadSynonym obo:MONDO_0002009 "major depressive disorder 2") +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "EFO:0003761") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref obo:MONDO_0002009 "DOID:1470") +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:EFO") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref obo:MONDO_0002009 "EFO:0003761") +AnnotationAssertion(Annotation(oboInOwl:source "DOID:1470") oboInOwl:hasDbXref obo:MONDO_0002009 "ICD9:296.2") +AnnotationAssertion(Annotation(oboInOwl:source "DOID:1470") oboInOwl:hasDbXref obo:MONDO_0002009 "ICD9:296.20") +AnnotationAssertion(Annotation(oboInOwl:source "DOID:1470") oboInOwl:hasDbXref obo:MONDO_0002009 "ICD9:296.3") +AnnotationAssertion(Annotation(oboInOwl:source "DOID:1470") oboInOwl:hasDbXref obo:MONDO_0002009 "ICD9:296.30") +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:MEDGEN") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref obo:MONDO_0002009 "MEDGEN:266123") +AnnotationAssertion(Annotation(oboInOwl:source "DOID:1470") Annotation(oboInOwl:source "EFO:0003761") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref obo:MONDO_0002009 "MESH:D003865") +AnnotationAssertion(oboInOwl:hasDbXref obo:MONDO_0002009 "MFOMD:0000143") +AnnotationAssertion(Annotation(oboInOwl:source "EFO:0003761") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref obo:MONDO_0002009 "NCIT:C35094") +AnnotationAssertion(Annotation(oboInOwl:source "EFO:0003761") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref obo:MONDO_0002009 "OMIM:608516") +AnnotationAssertion(Annotation(oboInOwl:source "EFO:0003761") Annotation(oboInOwl:source "MONDO:directSiblingOf") oboInOwl:hasDbXref obo:MONDO_0002009 "SCTID:300706003") +AnnotationAssertion(Annotation(oboInOwl:source "EFO:0003761") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref obo:MONDO_0002009 "SCTID:370143000") +AnnotationAssertion(Annotation(oboInOwl:source "MEDGEN:266123") Annotation(oboInOwl:source "MONDO:MEDGEN") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref obo:MONDO_0002009 "UMLS:C1269683") +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C35094") oboInOwl:hasExactSynonym obo:MONDO_0002009 "major depression") +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C35094") oboInOwl:hasExactSynonym obo:MONDO_0002009 "major depressive disorder") +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:608516") Annotation(oboInOwl:hasDbXref "OMIM:genemap2") oboInOwl:hasExactSynonym obo:MONDO_0002009 "major depressive disorder and accelerated response to antidepressant drug treatment") +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:608516") Annotation(oboInOwl:hasDbXref "OMIM:genemap2") oboInOwl:hasExactSynonym obo:MONDO_0002009 "major depressive disorder, response to citalopram therapy in") +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:1470") oboInOwl:hasExactSynonym obo:MONDO_0002009 "recurrent major depression") +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:1470") oboInOwl:hasExactSynonym obo:MONDO_0002009 "single major depressive episode") +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:0005263") oboInOwl:hasExactSynonym obo:MONDO_0002009 "unipolar depression") +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:608516") Annotation(oboInOwl:hasDbXref "OMIM:genemap2") oboInOwl:hasExactSynonym obo:MONDO_0002009 "unipolar depression, susceptibility to") +AnnotationAssertion(oboInOwl:id obo:MONDO_0002009 "MONDO:0002009") +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:OTAR") oboInOwl:inSubset obo:MONDO_0002009 mondo:otar) +AnnotationAssertion(rdfs:label obo:MONDO_0002009 "major depressive disorder") +AnnotationAssertion(skos:exactMatch obo:MONDO_0002009 ) +AnnotationAssertion(skos:exactMatch obo:MONDO_0002009 ) +AnnotationAssertion(skos:exactMatch obo:MONDO_0002009 ) +AnnotationAssertion(skos:exactMatch obo:MONDO_0002009 ) +AnnotationAssertion(skos:exactMatch obo:MONDO_0002009 obo:DOID_1470) +AnnotationAssertion(skos:exactMatch obo:MONDO_0002009 obo:NCIT_C35094) +AnnotationAssertion(skos:exactMatch obo:MONDO_0002009 ) +SubClassOf(Annotation(oboInOwl:source "DOID:1470") Annotation(oboInOwl:source "MESH:D003865") Annotation(oboInOwl:source "NCIT:C35094") obo:MONDO_0002009 obo:MONDO_0002050) + # Class: obo:MONDO_0002012 (methylmalonic acidemia) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C98986") obo:IAO_0000115 obo:MONDO_0002012 "A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.") @@ -363760,46 +363800,6 @@ AnnotationAssertion(skos:exactMatch obo:NCIT_C4657) SubClassOf( ) -# Class: () - -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:P378") obo:IAO_0000115 "An episode of depression lasting two or more weeks without an intervening episode of mania.") -AnnotationAssertion(obo:IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/4521"^^xsd:anyURI) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:608516") Annotation(oboInOwl:hasDbXref "OMIM:genemap2") oboInOwl:hasBroadSynonym "major depressive disorder 1") -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:608516") Annotation(oboInOwl:hasDbXref "OMIM:genemap2") oboInOwl:hasBroadSynonym "major depressive disorder 2") -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "EFO:0003761") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref "DOID:1470") -AnnotationAssertion(Annotation(oboInOwl:source "DOID:1470") oboInOwl:hasDbXref "ICD9:296.2") -AnnotationAssertion(Annotation(oboInOwl:source "DOID:1470") oboInOwl:hasDbXref "ICD9:296.20") -AnnotationAssertion(Annotation(oboInOwl:source "DOID:1470") oboInOwl:hasDbXref "ICD9:296.3") -AnnotationAssertion(Annotation(oboInOwl:source "DOID:1470") oboInOwl:hasDbXref "ICD9:296.30") -AnnotationAssertion(Annotation(oboInOwl:source "MONDO:MEDGEN") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref "MEDGEN:266123") -AnnotationAssertion(Annotation(oboInOwl:source "DOID:1470") Annotation(oboInOwl:source "EFO:0003761") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref "MESH:D003865") -AnnotationAssertion(oboInOwl:hasDbXref "MFOMD:0000143") -AnnotationAssertion(Annotation(oboInOwl:source "EFO:0003761") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref "NCIT:C35094") -AnnotationAssertion(Annotation(oboInOwl:source "EFO:0003761") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref "OMIM:608516") -AnnotationAssertion(Annotation(oboInOwl:source "EFO:0003761") Annotation(oboInOwl:source "MONDO:directSiblingOf") oboInOwl:hasDbXref "SCTID:300706003") -AnnotationAssertion(Annotation(oboInOwl:source "EFO:0003761") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref "SCTID:370143000") -AnnotationAssertion(Annotation(oboInOwl:source "MEDGEN:266123") Annotation(oboInOwl:source "MONDO:MEDGEN") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref "UMLS:C1269683") -AnnotationAssertion(oboInOwl:hasDbXref "MONDO:0002009") -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C35094") oboInOwl:hasExactSynonym "major depression") -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C35094") oboInOwl:hasExactSynonym "major depressive disorder") -AnnotationAssertion(Annotation(rdfs:comment "preferred label from MONDO") oboInOwl:hasExactSynonym "major depressive disorder") -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:608516") Annotation(oboInOwl:hasDbXref "OMIM:genemap2") oboInOwl:hasExactSynonym "major depressive disorder and accelerated response to antidepressant drug treatment") -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:608516") Annotation(oboInOwl:hasDbXref "OMIM:genemap2") oboInOwl:hasExactSynonym "major depressive disorder, response to citalopram therapy in") -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:1470") oboInOwl:hasExactSynonym "recurrent major depression") -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "DOID:1470") oboInOwl:hasExactSynonym "single major depressive episode") -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:0005263") oboInOwl:hasExactSynonym "unipolar depression") -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "OMIM:608516") Annotation(oboInOwl:hasDbXref "OMIM:genemap2") oboInOwl:hasExactSynonym "unipolar depression, susceptibility to") -AnnotationAssertion(oboInOwl:id "EFO:0003761") -AnnotationAssertion(Annotation(oboInOwl:source "MONDO:OTAR") oboInOwl:inSubset mondo:otar) -AnnotationAssertion(skos:exactMatch ) -AnnotationAssertion(skos:exactMatch ) -AnnotationAssertion(skos:exactMatch ) -AnnotationAssertion(skos:exactMatch ) -AnnotationAssertion(skos:exactMatch obo:DOID_1470) -AnnotationAssertion(skos:exactMatch obo:NCIT_C35094) -AnnotationAssertion(skos:exactMatch ) -SubClassOf(Annotation(oboInOwl:source "DOID:1470") Annotation(oboInOwl:source "MESH:D003865") Annotation(oboInOwl:source "NCIT:C35094") obo:MONDO_0002050) - # Class: () AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C2938") obo:IAO_0000115 "A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.") diff --git a/src/ontology/components/mondo_efo_mappings.owl b/src/ontology/components/mondo_efo_mappings.owl index 6efe9785..e6713080 100644 --- a/src/ontology/components/mondo_efo_mappings.owl +++ b/src/ontology/components/mondo_efo_mappings.owl @@ -2767,14 +2767,6 @@ - - - - MONDO:0002009 - - - - diff --git a/src/ontology/components/mondo_efo_mappings.template.tsv b/src/ontology/components/mondo_efo_mappings.template.tsv index 89cf61a4..9c9f1c09 100644 --- a/src/ontology/components/mondo_efo_mappings.template.tsv +++ b/src/ontology/components/mondo_efo_mappings.template.tsv @@ -2633,7 +2633,6 @@ MONDO:0019165 http://www.ebi.ac.uk/efo/EFO_0009029 Central precocious puberty Ce MONDO:0014776 http://www.ebi.ac.uk/efo/EFO_0009059 Spinocerebellar ataxia type 42 Spinocerebellar ataxia type 42 MONDO:0015967 http://www.ebi.ac.uk/efo/EFO_1001511 monogenic diabetes monogenic diabetes MONDO:0000568 http://www.ebi.ac.uk/efo/EFO_0020092 autoimmune disorder of central nervous system neuroinflammatory disorder -MONDO:0002009 http://www.ebi.ac.uk/efo/EFO_0003761 major depressive disorder unipolar depression MONDO:0700226 http://www.ebi.ac.uk/efo/EFO_1001890 food allergy food allergy MONDO:0100313 http://www.ebi.ac.uk/efo/EFO_0004236 focal segmental glomerulosclerosis focal segmental glomerulosclerosis MONDO:0009049 http://www.ebi.ac.uk/efo/EFO_0009041 Cushing syndrome due to macronodular adrenal hyperplasia Cushing syndrome due to macronodular adrenal hyperplasia diff --git a/src/ontology/components/mondo_efo_mappings.tsv b/src/ontology/components/mondo_efo_mappings.tsv index 0d61ee54..13e13349 100644 --- a/src/ontology/components/mondo_efo_mappings.tsv +++ b/src/ontology/components/mondo_efo_mappings.tsv @@ -2631,7 +2631,6 @@ http://purl.obolibrary.org/obo/MONDO_0019165 http://www.ebi.ac.uk/efo/EFO_000902 http://purl.obolibrary.org/obo/MONDO_0014776 http://www.ebi.ac.uk/efo/EFO_0009059 Spinocerebellar ataxia type 42 Spinocerebellar ataxia type 42 http://purl.obolibrary.org/obo/MONDO_0015967 http://www.ebi.ac.uk/efo/EFO_1001511 monogenic diabetes monogenic diabetes http://purl.obolibrary.org/obo/MONDO_0000568 http://www.ebi.ac.uk/efo/EFO_0020092 autoimmune disorder of central nervous system neuroinflammatory disorder -http://purl.obolibrary.org/obo/MONDO_0002009 http://www.ebi.ac.uk/efo/EFO_0003761 major depressive disorder unipolar depression http://purl.obolibrary.org/obo/MONDO_0700226 http://www.ebi.ac.uk/efo/EFO_1001890 food allergy food allergy http://purl.obolibrary.org/obo/MONDO_0100313 http://www.ebi.ac.uk/efo/EFO_0004236 focal segmental glomerulosclerosis focal segmental glomerulosclerosis http://purl.obolibrary.org/obo/MONDO_0009049 http://www.ebi.ac.uk/efo/EFO_0009041 Cushing syndrome due to macronodular adrenal hyperplasia Cushing syndrome due to macronodular adrenal hyperplasia diff --git a/src/ontology/efo-edit.owl b/src/ontology/efo-edit.owl index 147128d8..2a26e69c 100644 --- a/src/ontology/efo-edit.owl +++ b/src/ontology/efo-edit.owl @@ -29789,7 +29789,7 @@ AnnotationAssertion(rdfs:label obo:RO_0001025 "located_in") AnnotationAssertion(rdfs:label obo:RO_0002104 "has_plasma_membrane_part") -# Object Property: obo:RO_0002160 (only in taxon) +# Object Property: obo:RO_0002160 (only_in_taxon) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:20973947") obo:IAO_0000115 obo:RO_0002160 "S only_in_taxon T iff: S SubClassOf in_taxon only T") AnnotationAssertion(oboInOwl:hasDbXref obo:RO_0002160 "RO:0002160") @@ -44741,6 +44741,10 @@ SubClassOf(obo:MONDO_0001240 efo:EFO_0010238) SubClassOf(obo:MONDO_0001475 efo:EFO_0000540) +# Class: obo:MONDO_0002009 (major depressive disorder) + +AnnotationAssertion(oboInOwl:hasExactSynonym obo:MONDO_0002009 "MDD") + # Class: obo:MONDO_0002039 (cognitive disorder) SubClassOf(obo:MONDO_0002039 efo:EFO_0000677) @@ -111538,10 +111542,15 @@ AnnotationAssertion(rdfs:label efo:EFO_0003760 "central nervous system cyst") SubClassOf(efo:EFO_0003760 efo:EFO_0009386) SubClassOf(efo:EFO_0003760 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_0000955)) -# Class: efo:EFO_0003761 (unipolar depression) +# Class: efo:EFO_0003761 (obsolete_unipolar depression) AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003761 "A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003761 "Tomasz Adamusiak") +AnnotationAssertion(obo:IAO_0100001 efo:EFO_0003761 "http://purl.obolibrary.org/obo/MONDO_0002009") +AnnotationAssertion(efo:obsoleted_in_version efo:EFO_0003761 "3.69.0") +AnnotationAssertion(efo:reason_for_obsolescence efo:EFO_0003761 "Duplicate and requirement for OBA import. + +Please use: http://purl.obolibrary.org/obo/MONDO_0002009") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003761 "DOID:1470") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003761 "DOID:1595") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003761 "DOID:2848") @@ -111603,8 +111612,8 @@ AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0003761 "Syndrome, Depressi AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0003761 "Syndromes, Depressive") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0003761 "Unipolar Depressions") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0003761 "major depressive disorder") -AnnotationAssertion(rdfs:label efo:EFO_0003761 "unipolar depression") -SubClassOf(efo:EFO_0003761 efo:EFO_0004247) +AnnotationAssertion(rdfs:label efo:EFO_0003761 "obsolete_unipolar depression") +AnnotationAssertion(owl:deprecated efo:EFO_0003761 "true"^^xsd:boolean) # Class: efo:EFO_0003762 (vitamin D deficiency) @@ -148720,7 +148729,7 @@ AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0007453 "Depression, Postpa AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0007453 "Maternity blues (disorder)") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0007453 "postnatal depression") AnnotationAssertion(rdfs:label efo:EFO_0007453 "postpartum depression") -SubClassOf(efo:EFO_0007453 efo:EFO_0003761) +SubClassOf(efo:EFO_0007453 obo:MONDO_0002009) SubClassOf(efo:EFO_0007453 efo:EFO_0009683) # Class: efo:EFO_0007454 (postpoliomyelitis syndrome) @@ -166694,11 +166703,11 @@ AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009332 "PMID:29769613") AnnotationAssertion(rdfs:label efo:EFO_0009332 "executive function measurement") SubClassOf(efo:EFO_0009332 efo:EFO_0004464) SubClassOf(efo:EFO_0009332 efo:EFO_0006848) +SubClassOf(efo:EFO_0009332 ObjectSomeValuesFrom(obo:IAO_0000136 obo:MONDO_0002009)) SubClassOf(efo:EFO_0009332 ObjectSomeValuesFrom(obo:IAO_0000136 obo:MONDO_0004985)) SubClassOf(efo:EFO_0009332 ObjectSomeValuesFrom(obo:IAO_0000136 obo:MONDO_0005090)) SubClassOf(efo:EFO_0009332 ObjectSomeValuesFrom(obo:IAO_0000136 obo:UBERON_0000955)) SubClassOf(efo:EFO_0009332 ObjectSomeValuesFrom(obo:IAO_0000136 efo:EFO_0003758)) -SubClassOf(efo:EFO_0009332 ObjectSomeValuesFrom(obo:IAO_0000136 efo:EFO_0003761)) SubClassOf(efo:EFO_0009332 ObjectSomeValuesFrom(obo:IAO_0000136 efo:EFO_0003888)) SubClassOf(efo:EFO_0009332 ObjectSomeValuesFrom(obo:IAO_0000136 efo:EFO_0006788)) SubClassOf(efo:EFO_0009332 ObjectSomeValuesFrom(obo:IAO_0000136 efo:EFO_0007046)) @@ -171934,7 +171943,7 @@ AnnotationAssertion(obo:IAO_0000117 efo:EFO_0009854 "Aoife McMahon") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0009854 "TRD") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0009854 "treatment refractory depression") AnnotationAssertion(rdfs:label efo:EFO_0009854 "treatment resistant depression") -SubClassOf(efo:EFO_0009854 efo:EFO_0003761) +SubClassOf(efo:EFO_0009854 obo:MONDO_0002009) # Class: efo:EFO_0009855 (frontal fibrosing alopecia) @@ -332770,7 +332779,6 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:HP_0100727 "DOID:3405") AnnotationAssertion(oboInOwl:hasDbXref obo:HP_0100727 "MeSH:D015614") AnnotationAssertion(oboInOwl:hasDbXref obo:HP_0100880 "NCIt:C88537") AnnotationAssertion(oboInOwl:hasExactSynonym obo:MONDO_0001343 "renal dysfunction") -AnnotationAssertion(oboInOwl:hasExactSynonym obo:MONDO_0002009 "MDD") AnnotationAssertion(oboInOwl:hasExactSynonym obo:MONDO_0019479 "HS") AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Allen:is_equal_to") Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0002-6601-2165") obo:IAO_0000115 obo:RO_0002082 "Relation between occurrents, shares start and end boundaries.") AnnotationAssertion(oboInOwl:hasDbXref obo:RO_0002082 "RO:0002082") diff --git a/src/ontology/reports/basic-report.tsv b/src/ontology/reports/basic-report.tsv index c8491e8c..dda23cf8 100644 --- a/src/ontology/reports/basic-report.tsv +++ b/src/ontology/reports/basic-report.tsv @@ -390,7 +390,7 @@ "A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis." "MEDGEN:1784590 UMLS:C5543375 OMIM:619321" - "A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas." "NCIT:C40130 MEDGEN:274487 DOID:5324 UMLS:C1517114" + "A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas." "NCIT:C40130 MEDGEN:274487 UMLS:C1517114 DOID:5324" "immortal human lung-derived cell line" "CLO:0037033 RRID:CVCL_5160" "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. [ NCI ]" "ICD10:E05 MEDGEN:6972 DOID:7998 NCIT:C3123 MESH:D006980 HP:0000836 UMLS:C0020550 SCTID:34486009 MedDRA:10020850 MONDO:0004425 NCIt:C3123 ICD9:242.90 NANDO:2100119 NANDO:2200329" "UMLS:CN201472 ICD10:Q87.3 Orphanet:231127" @@ -718,7 +718,7 @@ "The determination of the amount of fibroblast growth factor 18 in a sample" "PMID:28240269" "Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." "OMIM:607748" - "The invaginated serous membrane that surrounds the lungs (the visceral portion) and lines the walls of the pleural cavity (parietal portion)." "BTO:0001791 CALOHA:TS-2081 MESH:D010994 SCTID:181609007 Wikipedia:Pleura FMA:9583 UMLS:C0032225 VHOG:0000394 GAID:360 EFO:0001980 MA:0000433 NCIT:C12469 EV:0100044" + "The invaginated serous membrane that surrounds the lungs (the visceral portion) and lines the walls of the pleural cavity (parietal portion)." "BTO:0001791 CALOHA:TS-2081 MESH:D010994 SCTID:181609007 FMA:9583 Wikipedia:Pleura UMLS:C0032225 VHOG:0000394 GAID:360 EFO:0001980 MA:0000433 NCIT:C12469 EV:0100044" "An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders." "MedDRA:10034052 GARD:7339 MESH:D015868 MeSH:D015868 SCTID:314428001 MEDGEN:14623 UMLS:C0030593 OMIM:606177 NCIT:C34903 MONDO:0011644 SNOMEDCT:45688009 DOID:12731 ICD9:363.21 NCIt:C34903" "Ceratobranchial 5 tooth which is posterior to tooth 2V and anterior to tooth 4V in the ventral tooth row." "ZFA:0001145" "Quantification of interleukin-16 in a sample." "PMID:29875488" @@ -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." "UMLS:C1866077 MESH:C535698 OMIM:601887 MEDGEN:356151" + "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" "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 SCTID:129565002 ICD9:359.9 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 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" "OMIM:618272 UMLS:CN226190 ICD10:Q87.3 Orphanet:404476" "The amount of a ankyrin repeat domain-containing protein 46 when measured in blood serum." @@ -1338,7 +1338,7 @@ "The amount of a BAG family molecular chaperone regulator 4 when measured in blood serum." "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)" "MONDO:0017638 Orphanet:306682 MedDRA:10058951 GARD:21264 SCTID:88687001 ICD9:503 ORDO:Orphanet_306682 MESH:D020149 MeSH:D020149" "The amount of a zinc finger and BTB domain-containing protein 10 when measured in blood serum." - "A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma." "DOID:3218 NCIT:C8401 MEDGEN:7187 UMLS:C0022374 SCTID:126834003 MESH:D007580" + "A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma." "DOID:3218 NCIT:C8401 MEDGEN:7187 UMLS:C0022374 MESH:D007580 SCTID:126834003" "An IgG memory B cell is a class switched memory B cell that is class switched and expresses IgG on the cell surface." "The smooth stratified squamous epithelium that covers the outer surface of the cornea." "EFO:0001917 FMA:58263 ZFA:0001683 TAO:0002187 UMLS:C0459875 MESH:D019573 GAID:895 SCTID:368825001 EMAPA:17162 Wikipedia:Corneal_epithelium BTO:0000287 NCIT:C12928 MA:0001243 CALOHA:TS-0173 EHDAA2:0000319" "Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency." "NANDO:2200441 Orphanet:404553 UMLS:C3887654 MEDGEN:854497 OMIM:615688 GARD:12383 NANDO:2200450 NANDO:1200995" @@ -2602,7 +2602,7 @@ "The determination of the amount of glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic in a sample" "PMID:34814699" "DOID:0111232 UMLS:C4225291 OMIM:616538 GARD:16134 MEDGEN:902513" "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." "NANDO:2200712 DECIPHER:16 GARD:10299 icd11.foundation:1868156761 NANDO:1200339 Orphanet:567 MedDRA:10012979 NANDO:1200688 MedDRA:10066430" - "A dibenzoazepine that is 5H-dibenzo[b,f]azepine carrying a carbamoyl substituent at the azepine nitrogen, used as an anticonvulsant." "PMID:10411478 Reaxys:1246090 PMID:16538175 Patent:US2011177136 PMID:11240598 PMID:18163657 PMID:17873967 PMID:18415623 PMID:14581052 PMID:11891095 KEGG:C06868 Patent:US2011245283 PMID:12957643 PMID:7602118 PMID:19473818 PMID:16562645 PMID:12799799 KEGG:D00252 PMID:15557493 PMID:11129121 PMID:14572037 PMID:11888243 PMID:19741433 Patent:US2004220187 PMID:19921623 PMID:15683742 PMID:17582711 Beilstein:1246090 PMID:16245817 PMID:17028629 PMID:17027750 HMDB:HMDB0014704 NCIt:C341 PMID:14160216 PMID:17949959 PMID:15665743 PMID:12228880 PMID:18652684 PMID:14713026 Drug_Central:489 PMID:18656520 PMID:16033627 Patent:US2007167446 LINCS:LSM-3610 PMID:22322005 CAS:298-46-4 PMID:16394456 PMID:18969759 DrugBank:DB00564 PMID:11475584 PMID:11071486 SNOMEDCT:387222003 PMID:16616830 PMID:11595204 PMID:12073283 PMID:16380297 MeSH:D002220 PMID:16990009 PMID:12475188 PMID:19135617 PMID:27967303 PMID:15850602 PMID:15165631 PMID:14723323 Wikipedia:Carbamazepine PMID:15739418 SNOMEDCT:40820003 PMID:17207414 PMID:15820347 PMID:12749779 PMID:16150575 Patent:US2948718 PMID:18637155 PMID:16437428" + "A dibenzoazepine that is 5H-dibenzo[b,f]azepine carrying a carbamoyl substituent at the azepine nitrogen, used as an anticonvulsant." "PMID:10411478 Reaxys:1246090 PMID:16538175 Patent:US2011177136 PMID:11240598 PMID:18163657 PMID:17873967 PMID:18415623 PMID:14581052 PMID:11891095 KEGG:C06868 Patent:US2011245283 PMID:12957643 PMID:7602118 PMID:19473818 PMID:16562645 PMID:12799799 KEGG:D00252 PMID:15557493 PMID:11129121 PMID:14572037 PMID:11888243 PMID:19741433 Patent:US2004220187 PMID:19921623 PMID:15683742 PMID:17582711 Beilstein:1246090 PMID:16245817 PMID:17027750 HMDB:HMDB0014704 PMID:17028629 NCIt:C341 PMID:14160216 PMID:17949959 PMID:15665743 PMID:12228880 PMID:18652684 PMID:14713026 Drug_Central:489 PMID:18656520 PMID:16033627 Patent:US2007167446 LINCS:LSM-3610 PMID:22322005 CAS:298-46-4 PMID:16394456 PMID:18969759 DrugBank:DB00564 PMID:11475584 PMID:11071486 SNOMEDCT:387222003 PMID:16616830 PMID:11595204 PMID:12073283 PMID:16380297 MeSH:D002220 PMID:16990009 PMID:12475188 PMID:19135617 PMID:27967303 PMID:15850602 PMID:15165631 PMID:14723323 Wikipedia:Carbamazepine PMID:15739418 SNOMEDCT:40820003 PMID:17207414 PMID:15820347 PMID:12749779 PMID:16150575 Patent:US2948718 PMID:18637155 PMID:16437428" "Genome-wide mapping of PTB-RNA interactions (PTB-Seq)" "PMID:20064465" "Quantification of the amount of pregnenetriol disulfate in a sample." "PMID:35347128" @@ -2725,7 +2725,7 @@ "An abscess that develops in the space surrounding one or both palatine tonsils." "ICD10CM:J36 SCTID:15033003 UMLS:C0031157 MedDRA:10034686 ICD9:475 MONDO:0005906 DOID:12765 MeSH:D000039 MESH:D000039 MEDGEN:45819 ICD10:J36 NCIT:C128322" "A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length." "MONDO:0013878 MEDGEN:766531 OMIM:614742 UMLS:C3553617" "quantification of the surface area of the visual cortex. The visual cortex is located in the occipital lobe at the back of the brain. It is variable and heritable, and is correlated with visual acuity and visual perception." "PMID:22343285" - "A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." "MEDGEN:83414 NCIT:C8106 EFO:1000414 MONDO:0003481 ONCOTREE:ODYS DOID:5511 SCTID:254874008 UMLS:C0346185" + "A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." "UMLS:C0346185 MEDGEN:83414 NCIT:C8106 EFO:1000414 MONDO:0003481 ONCOTREE:ODYS DOID:5511 SCTID:254874008" "Quantification of triglycerides in very large HDL." "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." "DOID:0111240 MEDGEN:461761 GARD:15624 UMLS:C3150411 NCIT:C126742 OMIM:613150" "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." "SCTID:719395001 MEDGEN:414129 OMIM:612946 GARD:17116 UMLS:C2751878 MESH:C567850 Orphanet:217026" @@ -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 ONCOTREE:ATRT Orphanet:99966 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 Orphanet:99966 ONCOTREE:ATRT 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 SCTID:129565002 ICD9:359.9 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 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" "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" @@ -3451,7 +3451,7 @@ "The amount of a Capz-interacting protein when measured in blood serum." "ICD10:Q96.2 ICD10:Q96.1" "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" - "A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." "MEDGEN:309514 NCIT:C40031 DOID:5474 MONDO:0006340 EFO:1000428 UMLS:C1518729" + "A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." "UMLS:C1518729 MEDGEN:309514 NCIT:C40031 DOID:5474 MONDO:0006340 EFO:1000428" "An inflammatory process that affects the choroid." "UMLS:C0008526 GARD:4457 HP:0012123 MESH:D002833 MEDGEN:40282 NORD:1601 DOID:11406 NCIT:C35111 MedDRA:10036370 SCTID:16553002 Orphanet:280892" "A monomethylxanthine having the methyl group located at the 3-position. It is a metabolite of caffeine." "KNApSAcK:C00043196 HMDB:HMDB0001886 PMID:16870158" "Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma." "UMLS:C0206725 GARD:0010070 EFO:1000553 MONDO:0007667 ICDO:9383/1 DOID:4843 ICD10:D43.2 EFO:1001197 NCIT:C3795 MESH:D018315 ONCOTREE:SUBE GARD:10070 MEDGEN:64637 Orphanet:251639" @@ -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 MEDGEN:2970 NCIT:C40241 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 NCIT:C40241 MEDGEN:2970 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 MONDO:0005293 UMLS:C0016202 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 UMLS:C0016202 MONDO:0005293 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 MeSH:D014393 MedDRA:10076879 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 MedDRA:10076879 MeSH:D014393 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." "NCIT:C3775 MONDO:0006973 EFO:1001183 MESH:D018280 ONCOTREE:SKAC MedDRA:10040798 ICDO:8390/3 UMLS:C0206697 MEDGEN:60209" + "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 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" @@ -5495,7 +5495,7 @@ "An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." "DOID:5636 UMLS:C0346202 MEDGEN:91091 MONDO:0006134 EFO:1000162 ONCOTREE:CEAS NCIT:C4519 SCTID:254888007" "OMIM:608970 OMIM:169150 ICD10:H35.5" "MeSH:D010408 SNOMEDCT:24406000" - "A disease that involves the pilosebaceous unit." "UMLS:C0554472 DOID:421 MEDGEN:640417 ICD9:704.8 SCTID:201128002 ICD9:704.9 MESH:D006201 NCIT:C34656" + "A disease that involves the pilosebaceous unit." "UMLS:C0554472 DOID:421 ICD9:704.8 MEDGEN:640417 SCTID:201128002 ICD9:704.9 MESH:D006201 NCIT:C34656" "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." "NANDO:1200272 MEDGEN:6146 OMIM:152700 DOID:9074 NORD:1380 ICD9:710.0 Orphanet:536 GARD:18695 NANDO:2200416 UMLS:C0024141 MESH:D008180 HP:0002725 SCTID:55464009 NCIT:C3201 icd11.foundation:749596428" "Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system." "UMLS:C0037253 FMA:23881 EMAPA:35773 TAO:0000434 CALOHA:TS-1320 XAO:0003060 EHDAA2:0003168 VHOG:0001254 BTO:0001486 AAO:0000566 EFO:0000806 VSAO:0000027 MA:0000018 ZFA:0000434 NCIT:C12788" "The amount of a endosialin when measured in blood serum." @@ -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 FMA:74272 MA:0002605 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 MA:0002605 FMA:74272 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" @@ -5808,7 +5808,7 @@ "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." - "Human pancreatic neuroendocrine tumor cell line" "BTO:0003856 RRID:CVCL_3985" + "Human pancreatic neuroendocrine tumor cell line" "RRID:CVCL_3985 BTO:0003856" "A congenital or acquired aneurysm within the cranium." "UMLS:C0751003 SNOMEDCT:128609009 SNOMEDCT:125236003 MEDGEN:196706 NCIt:C27208 MONDO:0005291 MESH:D002532 MeSH:D002532 DOID:10941 SNOMEDCT:277196008" "UMLS:C0432335 OMIM:614100" "UMLS:C5561980 OMIM:619518 MEDGEN:1794190" @@ -6638,7 +6638,7 @@ "The amount of a START domain-containing protein 10 when measured in blood serum." "A member of the class of phenols that is 4-aminophenol in which one of the hydrogens attached to the amino group has been replaced by an acetyl group." "PMID:22770225 PMID:25962350 LINCS:LSM-5533 HMDB:HMDB0001859 PMID:29398597 PMID:18953082 SNOMEDCT:387517004 KEGG:D00217 DrugBank:DB00316 Drug_Central:52 MetaCyc:CPD-7669 KEGG COMPOUND:103-90-2 PMID:27320817 Reaxys:2208089 NCIt:C198 PMID:7602118 NIST Chemistry WebBook:103-90-2 PMID:16716555 MeSH:D000082 Beilstein:2208089 PMID:28734939 KEGG:C06804 CAS:103-90-2 PMID:11084378 ChEMBL:116450 Chemspider:1906 PMID:11304127 PDBeChem:TYL CiteXplore:11304127 CiteXplore:21108564 PMID:21108564 Wikipedia:Acetaminophen CiteXplore:7602118 HMDB:HMDB01859 CiteXplore:16716555 SNOMEDCT:90332006 KEGG DRUG:D00217 KEGG COMPOUND:C06804 ChemIDplus:103-90-2 PMID:25128677 PMID:22114686" - "A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts." "MFOMD:0000143 MeSH:D003865 ICD9:296.20 SNOMEDCT:370143000 MEDGEN:266123 DOID:2848 SNOMEDCT:300706003 UMLS:C1269683 SCTID:300706003 DOID:1470 MedDRA:10045543 ICD9:296.2 ICD9:296.30 DOID:1595 NCIt:C35094 NCIT:C35094 ICD9:296.3 ICD10:F32 SNOMEDCT:321717001 ICD10:F33 MESH:D003865 MONDO:0002009 OMIM:608516 SCTID:370143000" + "A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts." "MeSH:D003865 SNOMEDCT:370143000 DOID:2848 SNOMEDCT:300706003 DOID:1470 MedDRA:10045543 DOID:1595 NCIt:C35094 ICD10:F32 SNOMEDCT:321717001 ICD10:F33 OMIM:608516" "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 steroids." "PMID:34850884" "A S. cerevisiae mating type cells that secrete a pheromone that stimulates a haploids." "MO:637 PATO:0001344 SNOMEDCT:263660008 NCIt:C86942 NCIt:C72484" "A germ cell tumor that occurs during adulthood." "NCIT:C114777 MEDGEN:859695 UMLS:C3900101" @@ -6898,7 +6898,7 @@ "The fibrous investing tissue, covered by keratinized epithelium, that immediately surrounds a tooth and is contiguous with its periodontal ligament and with the mucosal tissues of the mouth[Glossary of Periodontal Terms 2001]." "MA:0000342 SCTID:181224006 FMA:59762 galen:Gingiva EFO:0001925 EV:0100064 Wikipedia:Gingiva EMAPA:35945 VHOG:0001269 NCIT:C32677 MESH:D005881 UMLS:C0017562 GAID:1257 CALOHA:TS-2074 BTO:0000519" "Quantification of regulator of G-protein signaling 8 in a sample." "PMID:29875488" - "Muscle tissue is a contractile tissue made up of actin and myosin fibers[GO]." "MA:0002437 AAO:0000306 NCIT:C12435 UMLS:C2328219 SCTID:91727004 EHDAA2:0003122 AEO:0000122 FMA:9641 Wikipedia:Muscle_tissue galen:MuscleTissue EMAPA:32715 CALOHA:TS-0642 MESH:D009132" + "Muscle tissue is a contractile tissue made up of actin and myosin fibers[GO]." "MA:0002437 AAO:0000306 NCIT:C12435 UMLS:C2328219 SCTID:91727004 EHDAA2:0003122 AEO:0000122 FMA:9641 Wikipedia:Muscle_tissue EMAPA:32715 galen:MuscleTissue CALOHA:TS-0642 MESH:D009132" "An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent." "SCTID:707449006 DOID:3241 MESH:D011017 UMLS:C0032298 MONDO:0005826 MEDGEN:19362 MedDRA:10024583 MeSH:D011017" "Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies." "SCTID:723455009 UMLS:C2931658 Orphanet:2874 GARD:4311 MEDGEN:419860 MESH:C537893" "The amount of a Ras-related protein Rab-7b when measured in blood serum." @@ -7673,7 +7673,7 @@ "Orphanet:96164" "NCIt:C14222 SNOMEDCT:35354009" "OMIM:611016 UMLS:C1970242 MEDGEN:370865" - "A neoplasm (disease) that involves the mediastinum." "MEDGEN:44322 NCIT:C3221 UMLS:C0025063 SCTID:126725000 ICD9:239.89" + "A neoplasm (disease) that involves the mediastinum." "ICD9:239.89 MEDGEN:44322 NCIT:C3221 UMLS:C0025063 SCTID:126725000" "An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition." "UMLS:C1832594 Orphanet:2899 OMIM:601216 DOID:0090143 SCTID:716195006 GARD:5478 MEDGEN:318659" @@ -7919,6 +7919,7 @@ "Quantification of scavenger receptor class A member 5 in a sample." "PMID:29875488" "OMIM:620319 UMLS:C5830418 MEDGEN:1841054" "ICD10:Q73.8 OMIM:119100 OMIM:612576 OMIM:610685" + "An episode of depression lasting two or more weeks without an intervening episode of mania." "NCIT:C35094 OMIM:608516 UMLS:C1269683 SCTID:300706003 ICD9:296.30 ICD9:296.20 MEDGEN:266123 ICD9:296.2 MESH:D003865 ICD9:296.3 MFOMD:0000143 SCTID:370143000 DOID:1470 EFO:0003761" "GARD:12097" "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays." "NCIT:C84900 DOID:0111402 MEDGEN:88602 SCTID:15892005 Orphanet:79272 NANDO:2201177 GARD:7074 NANDO:1200104 UMLS:C0086650 OMIM:252940" "This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus." "MEDGEN:336425 MESH:C536907 OMIM:274265 Orphanet:3326 GARD:5202 SCTID:723555007 UMLS:C1848812" @@ -8054,7 +8055,7 @@ "A body tissue consisting of long cells that contract when stimulated and produce motion." "BTO:0000887" "Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM." "SCTID:49601007 MONDO:0004995 MEDGEN:2848 MESH:D002318 ICD9:424 NCIT:C2931 ICD9:429.7 ICD9:429 SNOMEDCT:49601007 ICD10:I99 MedDRA:10007648 ICD9:459.9 UMLS:C0007222 ICD9:429.81 SNOMEDCT:105980002 ICD9:423 ICD9:429.2 ICD9:459.89 ICD9:390-459.99 ICD10:I98 NCIt:C2931 ICD9:420-429.99 MeSH:D002318 NANDO:1100005 ICD9:423.8 ICD9:429.8 DOID:1287 ICD9:429.89" - "Any of the ducts that form the biliary tree, carrying bile from the liver to the small intestine." "MA:0000354 NCIT:C12376 MESH:D001652 GAID:280 XAO:0000134 Wikipedia:Bile_duct BTO:0000122 SCTID:276157007 ZFA:0001100 EMAPA:35171 CALOHA:TS-0075 AAO:0011019 VHOG:0000212 TAO:0001100 EV:0100091 UMLS:C0005400 FMA:9706" + "Any of the ducts that form the biliary tree, carrying bile from the liver to the small intestine." "MA:0000354 NCIT:C12376 MESH:D001652 GAID:280 XAO:0000134 Wikipedia:Bile_duct BTO:0000122 SCTID:276157007 ZFA:0001100 EMAPA:35171 CALOHA:TS-0075 AAO:0011019 VHOG:0000212 EV:0100091 TAO:0001100 UMLS:C0005400 FMA:9706" "The time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage." "ICD10:Q10.3 OMIM:167730 UMLS:C1868660" @@ -11998,7 +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 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" + "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" "OMIM:620748" @@ -12473,7 +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." @@ -12661,7 +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 NCIT:C113335 UMLS:C0020503 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 UMLS:C0020503 NCIT:C113335 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" @@ -12717,7 +12718,7 @@ "A complex fatty acid induction media for yeast. It contains yeast extract, peptone, Tween 40, complete synthetic medium, ammonium sulfate, distilled water and oleic acid as carbon source." "MEDGEN:1763505 OMIM:619058 GARD:16411 UMLS:C5436710 DOID:0070499" - "Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells." "FMA:76622 EHDAA2:0000732 EMAPA_RETIRED:16269 ZFA:0000113 EHDAA:179 EMAPA:16098 EFO:0003492 VHOG:0000332 TAO:0000113" + "Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells." "TAO:0000113 FMA:76622 EHDAA2:0000732 EMAPA_RETIRED:16269 ZFA:0000113 EHDAA:179 EMAPA:16098 EFO:0003492 VHOG:0000332" "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 36 carbons and 2 double bonds." "GARD:20963 Orphanet:268766" "Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid." "UMLS:C4518776 SCTID:733422008 MEDGEN:1377371 Orphanet:397606 GARD:21632" @@ -14080,7 +14081,7 @@ "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 ICD10:R91.1 EFO:1001133 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 EFO:1001133 ICD10:R91.1 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" @@ -14633,7 +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 MEDGEN:235163 MeSH:D054331 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 MeSH:D054331 MEDGEN:235163 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" @@ -15434,7 +15435,7 @@ "A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)" "UMLS:C0085541 MEDGEN:39074 DOID:3331 SCTID:230394006 MESH:D017034" "Abnormal fluid filled sac within the kidney, either acquired or congenital." "NCIt:C3970" "A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003" "NCIt:C5097" - "MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." "UMLS:C0041317 MONDO:0006845 MedDRA:10061234 MESH:D014389 MeSH:D014389 SNOMEDCT:240379005 SCTID:240379005 MEDGEN:52886 DOID:8024" + "MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." "UMLS:C0041317 MONDO:0006845 MedDRA:10061234 MESH:D014389 MeSH:D014389 SNOMEDCT:240379005 MEDGEN:52886 SCTID:240379005 DOID:8024" "SCTID:254221009 GARD:17069 MEDGEN:96594 MESH:C563639 UMLS:C0432335 Orphanet:171719 OMIM:614100" "Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities." "HP:0002748 SCTID:68295002 UMLS:C0035579 MedDRA:10039125 NCIT:C26878 MONDO:0005520 SCTID:41345002 MedDRA:10039124 MeSH:D012279 MedDRA:10039119 MESH:D012279 SNOMEDCT:41345002 DOID:10609 NCIt:C26878 ICD9:268.0 GARD:5700 MEDGEN:48470" @@ -15743,7 +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." "SCTID:254968009 MONDO:0006799 NCIT:C3129 MEDGEN:5717 EFO:1000979 DOID:3644 MESH:D007029 UMLS:C0020659" + "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" "Cold-induced vasodilation (CIVD) is an acute increase in peripheral blood flow observed during cold exposure." "The chemical reactions and pathways resulting in the formation of a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar." @@ -16256,7 +16257,7 @@ "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 ICD9:157.1 MONDO:0009831 DOID:1793 NCIt:C9005" + "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" "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." @@ -17983,7 +17984,7 @@ "GARD:20912 UMLS:C5679689 Orphanet:263731 MEDGEN:1826029" "The amount of a glycerophosphoserine when measured in blood." "PMID:37253714" "A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures." "NCIT:C3778 ICDO:8441/3 MEDGEN:60212 UMLS:C0206701" - "A pyranoindolizinoquinoline used as an antineoplastic agent. It is a derivative of camptothecin and works by binding to the topoisomerase I-DNA complex and preventing religation of these 328 single strand breaks." "Reaxys:4279441 PMID:20574789 PMID:22136714 PMID:21352915 Reaxys:4279441 \"Reaxys Registry Number\" CiteXplore:21352915 \"PubMed citation\" CiteXplore:20574789 \"PubMed citation\" Wikipedia:Topotecan Patent:EP321122 \"Patent\" ChemIDplus:123948-87-8 \"CAS Registry Number\" PMID:22028494 CiteXplore:22190039 \"PubMed citation\" PMID:22075006 PDBeChem:TTC PMID:22190039 MeSH:D019772 DrugBank:DB01030 PMID:21910214 CiteXplore:22075006 \"PubMed citation\" PMID:21255983 CiteXplore:21910214 \"PubMed citation\" KEGG DRUG:D08618 \"KEGG DRUG\" CiteXplore:22136714 \"PubMed citation\" CiteXplore:22028494 \"PubMed citation\" CAS:123948-87-8 CiteXplore:21255983 \"PubMed citation\" KEGG COMPOUND:123948-87-8 \"CAS Registry Number\" NCIt:C1413 SNOMEDCT:108779005 Wikipedia:Topotecan \"Wikipedia\" LINCS:LSM-5662 KEGG:D08618 SNOMEDCT:372536007 KEGG:C11158 DrugBank:DB01030 \"DrugBank\" KEGG COMPOUND:C11158 \"KEGG COMPOUND\" Patent:EP321122" + "A pyranoindolizinoquinoline used as an antineoplastic agent. It is a derivative of camptothecin and works by binding to the topoisomerase I-DNA complex and preventing religation of these 328 single strand breaks." "Reaxys:4279441 PMID:20574789 PMID:22136714 PMID:21352915 Reaxys:4279441 \"Reaxys Registry Number\" CiteXplore:21352915 \"PubMed citation\" CiteXplore:20574789 \"PubMed citation\" Wikipedia:Topotecan Patent:EP321122 \"Patent\" ChemIDplus:123948-87-8 \"CAS Registry Number\" PMID:22028494 CiteXplore:22190039 \"PubMed citation\" PMID:22075006 PDBeChem:TTC PMID:22190039 MeSH:D019772 DrugBank:DB01030 CiteXplore:22075006 \"PubMed citation\" PMID:21910214 PMID:21255983 CiteXplore:21910214 \"PubMed citation\" KEGG DRUG:D08618 \"KEGG DRUG\" CiteXplore:22136714 \"PubMed citation\" CiteXplore:22028494 \"PubMed citation\" CAS:123948-87-8 CiteXplore:21255983 \"PubMed citation\" KEGG COMPOUND:123948-87-8 \"CAS Registry Number\" NCIt:C1413 SNOMEDCT:108779005 Wikipedia:Topotecan \"Wikipedia\" LINCS:LSM-5662 KEGG:D08618 SNOMEDCT:372536007 KEGG:C11158 DrugBank:DB01030 \"DrugBank\" KEGG COMPOUND:C11158 \"KEGG COMPOUND\" Patent:EP321122" "Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." "MESH:C536056 GARD:4151 UMLS:C1843330 OMIM:607634 DOID:0110937 Orphanet:2783 MEDGEN:335932" "A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells." "NCIT:C4022 ONCOTREE:ACRM DOID:6367 ICDO:8744/3 UMLS:C0346037 HP:0012060 MEDGEN:87530 SCTID:254732008" @@ -19049,7 +19050,7 @@ "Any one of the major conceptual divisions of the eukaryotic cell cycle, based on characteristic cytological and biochemical events, that occur in the order G1 (Gap 1)-S (Synthesis)-G2 (Gap 2)-M (Mitosis) and lead to cell division." "NCIT:C20180" "The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)" "MEDGEN:4448 ICD9:374.10 UMLS:C0013592 ICD9:374.1 MESH:D004483 SCTID:62909004 DOID:1570 HP:0000656" "Functional neurological abnormalities related to dysfunction of the pyramidal tract." "SNOMEDCT_US:14648003 UMLS:C0234132" - "A condition in which one or more of the arches of the foot have flattened out." "SCTID:53226007 SNOMEDCT:53226007 MONDO:0005293 UMLS:C0016202 NCIt:C34616 ICD9:734 MEDGEN:42034 NCIT:C34616 MESH:D005413 MeSH:D005413" + "A condition in which one or more of the arches of the foot have flattened out." "SCTID:53226007 SNOMEDCT:53226007 UMLS:C0016202 MONDO:0005293 NCIt:C34616 ICD9:734 MEDGEN:42034 NCIT:C34616 MESH:D005413 MeSH:D005413" "Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness." "NORD:1087 GARD:6649 icd11.foundation:320069644 Orphanet:1930 NCIT:C84762 NANDO:2200772 MESH:D020803 ICD10EXP:G05.1* MEDGEN:75794 ICD10EXP:B00.4+ UMLS:C0276226" "Quantification of complement C1q tumor necrosis factor-related protein 5 in a sample." "PMID:29875488" @@ -20281,7 +20282,7 @@ "The walking appendages of each segment of the ventral adult external thorax." "MAT:0000095 FBbt:00004640 NCIt:C32974 TGMA:0000164 TADS:0000002 MeSH:D007866" "Chromatin affinity purification from specific cell types by chromatin immunoprecipitation (CAST-ChIP)" "PMID:24095734" - "A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" "ICD9:357.3 NCIt:C3981 MESH:D020364 DOID:8681 MEDGEN:124380 MedDRA:10062289 MeSH:D020364 UMLS:C0270932 NCIT:C3981 SCTID:77659000 MONDO:0006888" + "A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" "NCIt:C3981 MESH:D020364 DOID:8681 MEDGEN:124380 MedDRA:10062289 MeSH:D020364 UMLS:C0270932 NCIT:C3981 SCTID:77659000 MONDO:0006888 ICD9:357.3" "A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type." "MeSH:D001289 MedDRA:10003736 MedDRA:10083622 NCIT:C97160 OMIM:613003 OMIM:143465 MONDO:0007743 SNOMEDCT:406506008 NCIt:C97160 UMLS:C1263846 MedDRA:10003735 ICD9:314.01 MEDGEN:220387 DOID:1094" @@ -21409,7 +21410,7 @@ "A specialized osteoclast associated with the absorption and removal of cementum." "ZFA:0009270 FMA:83027 BTO:0002516" "Quantification of apolipoprotein A-V in a sample." "PMID:29875488" - "The basic functional unit of the kidney. its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine. A nephron eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. Its functions are vital to life and are regulated by the endocrine system by hormones such as antidiuretic hormone, aldosterone, and parathyroid hormone.[WP]." "NCIT:C13048 MA:0000375 CALOHA:TS-1312 FMA:17640 EV:0100384 BTO:0000924 EMAPA:35592 Wikipedia:Nephron MESH:D009399 ZFA:0005282 EMAPA:28491 SCTID:361337001 UMLS:C0027713 GAID:428 TAO:0002153" + "The basic functional unit of the kidney. its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine. A nephron eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. Its functions are vital to life and are regulated by the endocrine system by hormones such as antidiuretic hormone, aldosterone, and parathyroid hormone.[WP]." "NCIT:C13048 MA:0000375 CALOHA:TS-1312 FMA:17640 EV:0100384 BTO:0000924 EMAPA:35592 Wikipedia:Nephron MESH:D009399 EMAPA:28491 SCTID:361337001 ZFA:0005282 UMLS:C0027713 GAID:428 TAO:0002153" "A thin membranous, sometimes alveolated sac in the dorsal portion of the abdominal cavity. Contains a varying mixture of gases, not identical to the composition of air. May be one, two or three chambered. May be connected to the gut by a tube, the ductus pneumaticus (then called physostomous) or unconnected (then called physoclistous)." "ZFA:0000076 BTO:0001607 SCTID:64748009 TAO:0000076 BTO:0002148 EFO:0003483" "A triglyceride in which the three acyl groups contain a total of 56 carbons and 9 double bonds." "Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." "OMIM:611722 ICD10:E75.2 OMIM:245200 MedDRA:10023492 UMLS:C0023521" @@ -21799,7 +21800,7 @@ "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 ICD9:157.1 MONDO:0009831 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 MONDO:0009831 ICD9:157.1 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" @@ -22232,7 +22233,7 @@ "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" @@ -22320,7 +22321,7 @@ "A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis." "MESH:C565170 GARD:15707 UMLS:C3151078 MEDGEN:462428 OMIM:613783 NANDO:2200779" "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene." "UMLS:C3554306 GARD:15891 DOID:0060686 MEDGEN:767220 OMIM:615005" "ICD10:D84.8" - "The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]." "AAO:0000890 CALOHA:TS-1048 SCTID:182061009 galen:Tibia EFO:0003054 UMLS:C0040184 NCIT:C12800 Wikipedia:Tibia EMAPA:19142 FMA:24476 BTO:0001252 GAID:204 MESH:D013977 MA:0001361" + "The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]." "MA:0001361 AAO:0000890 CALOHA:TS-1048 SCTID:182061009 galen:Tibia EFO:0003054 UMLS:C0040184 NCIT:C12800 EMAPA:19142 Wikipedia:Tibia FMA:24476 BTO:0001252 GAID:204 MESH:D013977" "A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals." "MeSH:D048090 MESH:D048090 MONDO:0005678 DOID:3732" "Quantification of the amount of chromogranin-A measurement in a sample." "PMID:36168886" "A procedure to replace diseased bone marrow with transplanted healthy bone marrow cells." "PMID:35379913 NCIT:C15194" @@ -23298,7 +23299,7 @@ "Quantification of the amount of endothelial cell-specific molecule 1 in a sample" "PMID:33067605" "A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." "MedDRA:10068223 GARD:0004192 EFO:1000249 MONDO:0008177 ICDO:8542/3 UMLS:C0030186 ICD10:C44.5 MEDGEN:45280 MedDRA:10033366 GARD:4192 OMIM:167300 icd11.foundation:1796624917 Orphanet:2800 MESH:D010145 ONCOTREE:EMPD NCIT:C3302" "Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability." "DECIPHER:17 MESH:D058495 NANDO:2200953 OMIM:117550 UMLS:C0175695 MedDRA:10064387 DOID:0112103 MEDGEN:61232 DOID:14748 SCTID:75968004 Orphanet:821 OMIMPS:117550 NANDO:1200679 NCIT:C75019 NORD:1727 GARD:10091" - "A disease involving the pituitary gland. [ MONDO:DesignPattern ]" "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" + "A disease involving the pituitary gland. [ MONDO:DesignPattern ]" "MONDO:0003381 ICD9:253.8 ICD9:253.9 ICD9:253.1 MESH:D010900 NCIT:C26854 MEDGEN:45934 UMLS:C0032002 DOID:53 SCTID:399244003 ICD10:E23" "Quantification of the amount of X-17353 in a sample." "PMID:35347128" "A carcinoma that arises from glandular epithelial cells of the esophagogastric junction." "DOID:4944 UMLS:C1332166 ONCOTREE:GEJ NCIT:C9296 ONCOTREE:EGC MEDGEN:231030" "The amount of a F-actin-capping protein subunit beta when measured in blood serum." @@ -23468,7 +23469,7 @@ "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 EFO:0001368 UMLS:C0021724 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 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 amount of a (R)-oleoylcarnitine when measured in blood." "PMID:37253714" "The amount of a annexin A11 when measured in blood serum." @@ -23723,7 +23724,7 @@ "Quantification of ankyrin repeat domain-containing protein 27 in a sample." "PMID:29875488" - "Mycobacterium infections of the male reproductive tract (genitalia, male)." "UMLS:C0041317 MONDO:0006845 MedDRA:10061234 MESH:D014389 MeSH:D014389 SNOMEDCT:240379005 SCTID:240379005 MEDGEN:52886 DOID:8024" + "Mycobacterium infections of the male reproductive tract (genitalia, male)." "UMLS:C0041317 MONDO:0006845 MedDRA:10061234 MESH:D014389 MeSH:D014389 SNOMEDCT:240379005 MEDGEN:52886 SCTID:240379005 DOID:8024" "The amount of a tRNA (guanine-N(7)-)-methyltransferase when measured in blood serum." "The amount of a CD14 molecule when measured in blood serum." "Quantification of triacylglycerol 50:0 in a sample." "PMID:35668104" @@ -26645,7 +26646,7 @@ "The trabecular bone score (TBS) is an analytical tool used to measure grey-level textures on lumbar spine (LS) dual X-ray absorptiometry (DXA) images. It is a measure of bone texture correlated with bone microarchitecture and is associated with the incidence of new fracture." "PMID:33232597" "A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity." "MONDO:0009237 SCTID:6121001 MeSH:D017573 DOID:5362 MedDRA:10076576 OMIM:229045 ICD9:528.79 UMLS:C0206067 MEDGEN:60066 MESH:D017573 NCIT:C97083" "An infectious life-cycle stage, which can infect by direct skin penetration (e.g. Schistosoma sp.) or ingestion (e.g. Fasciola sp.). Cercariae develop in and emerge from the intermediate invertebrate (snail) host. In Schistosoma sp., the cercarium attaches to the skin of the definitive host and secretes proteolytic enzymes helping it to enter into cutaneous capillary vessel; upon the penetration the cercarium sheds its tail and transforms into a schistosomulum. In Fasciola sp., cercariae encyst on vegetation as dormant metacercariae until ingestion by the definitive host." "WBls:0000708" - "Distal segment of the fore limb, including carpal region, metacarpal region and digits." "NCIT:C32712 EMAPA:17428 galen:Hand NLXANAT:20090603 VHOG:0000344 AAO:0010803 GAID:56 UMLS:C0018563 MA:0000037 CALOHA:TS-2213 Wikipedia:Manus_(anatomy) FMA:9712 MESH:D006225 EHDAA2:0000728 BTO:0004668 SCTID:302539009" + "Distal segment of the fore limb, including carpal region, metacarpal region and digits." "NCIT:C32712 EMAPA:17428 galen:Hand NLXANAT:20090603 VHOG:0000344 AAO:0010803 GAID:56 UMLS:C0018563 MA:0000037 CALOHA:TS-2213 Wikipedia:Manus_(anatomy) MESH:D006225 FMA:9712 EHDAA2:0000728 BTO:0004668 SCTID:302539009" "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." "GARD:3373 DOID:0111584 UMLS:C0796031 SCTID:719451006 NCIT:C174217 OMIM:212112 MEDGEN:162901 Orphanet:2229" "UMLS:C5436588 OMIM:619007 DOID:0112147 MEDGEN:1733837" "OMIM:309580" @@ -26835,7 +26836,7 @@ "A member of the class of acrylamides that results from the formal condensation of acrylic acid with ammonia." "Gmelin:81842 PMID:19846048 Patent:US2535245 PMID:17032038 Wikipedia:Acrylamide SNOMEDCT:6983000 PMID:17720246 Reaxys:605349 PMID:19022940 MeSH:D020106 UM-BBD_compID:c0149 PMID:22784192 KEGG:C01659 PMID:10719038 PMID:17234719 PMID:17558658 PMID:18469268 CAS:79-06-1 HMDB:HMDB0004296 PMID:12166997 PMID:15240786 PMID:15901921 PMID:17484107 Beilstein:605349 PMID:22136129 PMID:7767980 NCIt:C44329" "The amount of a calcyclin-binding protein when measured in blood serum." "The soft tissue surrounding the neck of individual teeth as well as covering the alveolar bone. The tissue is fibrous and continuous with the periodontal ligament and mucosal covering." "NCIt:C32677 FMA:59762 BTO:0000519" - "Tumors or cancer of the bronchi." "MONDO:0002807 MESH:D001984 DOID:3906 MEDGEN:2735 UMLS:C0006264 HP:0030077 MedDRA:10052245 NANDO:2200081 MeSH:D001984 SCTID:126705004" + "Tumors or cancer of the bronchi." "MONDO:0002807 MESH:D001984 DOID:3906 MEDGEN:2735 UMLS:C0006264 HP:0030077 NANDO:2200081 MedDRA:10052245 MeSH:D001984 SCTID:126705004" "The ventral grey column of the spinal cord[MP]. The neurons of the ventral region of the mature spinal cord participate in motor output[GO]." "UMLS:C0228590 EMAPA:18575 BAMS:VH FMA:256541 BTO:0005151 MA:0001134 UMLS:C0228569 Wikipedia:Anterior_horn_of_spinal_cord EMAPA:35794 NCIT:C33859 TAO:0000702 BIRNLEX:2668 SCTID:279443000 neuronames:1751 VHOG:0001288 ZFA:0000702" "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" @@ -27248,7 +27249,7 @@ "Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure." "SNOMEDCT_US:4103001 UMLS:C0149958 UMLS:C0270834" "Tumor of the lung." "SNOMEDCT_US:126713003 NCIT:C3262 UMLS:C0024121" - "The part of the pancreas that is part of the endocrine system and is made up of islet cells, which produce insulin, glucagon and somatostatin." "SCTID:361339003 EMAPA:35305 ZFA:0001260 CALOHA:TS-1302 FMA:16018 EV:0100129 MESH:D007515 VHOG:0000049 NCIT:C32509 EFO:0002542 MA:0001582 TAO:0001260 Wikipedia:Islets_of_Langerhans BTO:0000650" + "The part of the pancreas that is part of the endocrine system and is made up of islet cells, which produce insulin, glucagon and somatostatin." "BTO:0000650 SCTID:361339003 EMAPA:35305 ZFA:0001260 CALOHA:TS-1302 FMA:16018 EV:0100129 MESH:D007515 VHOG:0000049 NCIT:C32509 EFO:0002542 TAO:0001260 MA:0001582 Wikipedia:Islets_of_Langerhans" "The group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia." "EMAPA:16982 BIRNLEX:2564 EFO:0003543 UMLS:C0037959 EHDAA:5569 XAO:0004142 MA:0001084 VHOG:0000696 EMAPA:17571 ZFA:0000588 neuronames:496 EHDAA:6653 TAO:0000588 EHDAA2:0002196" "Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure." "Orphanet:3152 MESH:C537525 NCIT:C131133 MEDGEN:120530 OMIMPS:269500 UMLS:C0265301 GARD:4771 SCTID:17568006 ICD9:756.59 NANDO:2201369 DOID:0060251" "A mesoderm that has the potential to develop into a pronephros." "AAO:0011090 ZFA:0000067 TAO:0000067 VHOG:0001239 EFO:0003479 XAO:0000264" @@ -28052,7 +28053,7 @@ "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." @@ -28733,7 +28734,7 @@ "Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn." "GARD:2130 UMLS:C4274223 icd11.foundation:1981771784 Orphanet:292 MEDGEN:904399 SCTID:716865000" "OMIM:600512" - "Infections caused by arthropod-borne viruses, general or unspecified." "UMLS:C0003723 MEDGEN:389 DOID:934 MESH:D001102 NCIT:C34396 MONDO:0020731 MeSH:D001102 SCTID:40610006" + "Infections caused by arthropod-borne viruses, general or unspecified." "UMLS:C0003723 DOID:934 MEDGEN:389 MESH:D001102 NCIT:C34396 MONDO:0020731 MeSH:D001102 SCTID:40610006" "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 serotonin stimulus." "A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system." "PDBeChem:BNZ PMID:14677922 PMID:15935818 CAS:71-43-2 PMID:23222815 PMID:12857942 Beilstein:969212 PMID:19228219 PMID:6353911 PMID:17373369 PMID:8124204 PMID:11993966 Reaxys:969212 PMID:18407866 HMDB:HMDB0001505 PMID:18836923 PMID:11684179 KEGG:C01407 PMID:18072742 PMID:21325737 PMID:15468289 PMID:23534829 Gmelin:1671 PMID:16161967 PMID:18409691 UM-BBD_compID:c0142 PMID:23088855 Wikipedia:Benzene" "KNApSAcK:C00000186 KEGG:C15791 LIPID_MAPS_instance:LMST01030121 Beilstein:5305497" @@ -29390,7 +29391,7 @@ "The amount of a growth factor receptor-bound protein 14 when measured in blood serum." "Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment." "DECIPHER:59 SCTID:448054001 OMIM:169500 DOID:0060785 GARD:10587 MEDGEN:356995 MESH:C566813 UMLS:C1868512 Orphanet:99027" "Quantification of the frequency which an individual omits to eat breakfast. Breakfast skipping is often considered as a sub-clinical eating disorder." "PMID:31190057" - "A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." "MEDGEN:18377 ICD10:I31 UMLS:C0031046 MONDO:0005904 ICD10:I30 DOID:1787 SCTID:3238004 NCIT:C34915 Orphanet:58208 MESH:D010493 MedDRA:10034484 HP:0001701 MeSH:D010493" + "A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." "MEDGEN:18377 ICD10:I31 UMLS:C0031046 ICD10:I30 DOID:1787 MONDO:0005904 SCTID:3238004 NCIT:C34915 Orphanet:58208 MESH:D010493 MedDRA:10034484 HP:0001701 MeSH:D010493" "Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES." "MONDO:0006809 ICD9:434.1 DOID:4372 MESH:D020766 ICD9:434.10 MeSH:D020766 UMLS:C0752140 MEDGEN:155710 SCTID:75543006" "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations." "NANDO:1200857 UMLS:C0000744 MEDGEN:1253 MESH:D000012 NCIT:C84525 NORD:703 NANDO:2200604 OMIM:200100 DOID:1386 Orphanet:14 SCTID:190787008 GARD:5" @@ -31309,7 +31310,7 @@ "Catalysis of the random hydrolysis of (1->4) linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate." "Reactome:R-HSA-2318585 MetaCyc:3.2.1.35-RXN Reactome:R-HSA-5693356 Reactome:R-HSA-9036077 Reactome:R-HSA-2160874 EC:3.2.1.35 Reactome:R-HSA-2160892 Reactome:R-HSA-1793209" - "The ventral area of the mouth. In organisms with a tongue, this is the area under the ventral surface of the tongue[ncit, modified]." "UMLS:C0026638 BTO:0006184 EFO:0001923 MESH:D009060 FMA:86592 GAID:1283 EMAPA:37911 CALOHA:TS-2207 SCTID:245786002 NCIT:C54187" + "The ventral area of the mouth. In organisms with a tongue, this is the area under the ventral surface of the tongue[ncit, modified]." "UMLS:C0026638 BTO:0006184 EFO:0001923 MESH:D009060 FMA:86592 EMAPA:37911 GAID:1283 CALOHA:TS-2207 SCTID:245786002 NCIT:C54187" @@ -32590,7 +32591,7 @@ "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene." "MEDGEN:343767 DOID:0110541 OMIM:124900 UMLS:C1852282 MESH:C565121" "The amount of a succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial when measured in blood serum." "A promyelocyte committed to the neutrophil lineage. This cell type is GATA-1-positive, C/EBPa-positive, AML-1-positive, MPO-positive, has low expression of PU.1 transcription factor and lacks lactotransferrin expression." "SNOMEDCT:34254002 FMA:84196 ZFA:0009257" - "A lymphocyte of B lineage that is capable of B cell mediated immunity." "NCIt:C12474 MeSH:D001402 ZFA:0009142 MESH:D001402 VHOG:0001480 CALOHA:TS-0068 BTO:0000776 FMA:62869 SNOMEDCT:112130006" + "A lymphocyte of B lineage that is capable of B cell mediated immunity." "NCIt:C12474 MeSH:D001402 ZFA:0009142 MESH:D001402 VHOG:0001480 CALOHA:TS-0068 BTO:0000776 SNOMEDCT:112130006 FMA:62869" "A bars of hyaline cartilage located between the distal part of a rib and a costal cartilage, connecting the ribs to the sternum ." "UMLS:C0224683 MA:0001509 FMA:7956 EMAPA:36490 SCTID:282413008 Wikipedia:Costochondral_joint NCIT:C32392" "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy)." "MESH:C564508 DOID:0112123 UMLS:C3806634 OMIM:300475 Orphanet:369939 GARD:17592 MEDGEN:812964" @@ -33207,7 +33208,7 @@ "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 MedDRA:10020708 NCIT:C113335 UMLS:C0020503 NCIt:C113335 SNOMEDCT:91478007 SCTID:91478007 MONDO:0006964 DOID:12466 HP:0000867 MeSH:D006962" + "Overproduction of parathyroid hormone in response to influence external to the parathyroid glands." "MESH:D006962 MEDGEN:9368 MedDRA:10020708 UMLS:C0020503 NCIT:C113335 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" @@ -33235,7 +33236,7 @@ "Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." "ICD10:Q87.8 OMIM:217980" - "Solitary or multiple collections of PUS within the lung parenchyma as a result of infection by bacteria, protozoa, or other agents." "MedDRA:10025028 UMLS:C0024110 NCIT:C99090 ICD9:513.0 NCIt:C99090 MONDO:0000744 SNOMEDCT:196108004 HP:0025044 MESH:D008169 DOID:850 DOID:0060317 SCTID:73452002 MeSH:D008169 MEDGEN:7397" + "Solitary or multiple collections of PUS within the lung parenchyma as a result of infection by bacteria, protozoa, or other agents." "MedDRA:10025028 UMLS:C0024110 NCIT:C99090 ICD9:513.0 SNOMEDCT:196108004 NCIt:C99090 MONDO:0000744 HP:0025044 MESH:D008169 DOID:850 DOID:0060317 SCTID:73452002 MeSH:D008169 MEDGEN:7397" "The amount of a neuropilin and tolloid-like protein 2 when measured in blood serum." "Quantification of cAMP-regulated phosphoprotein 21 in a sample." "PMID:29875488" @@ -33360,7 +33361,7 @@ "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" @@ -33915,7 +33916,7 @@ "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 TAO:0001287 FMA:15627 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 MA:0000377 MESH:D007684 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." @@ -34163,7 +34164,7 @@ "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" @@ -34192,7 +34193,7 @@ "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 \"Wikipedia\" Wikipedia:Fenoldopam Patent:US4197297 Patent:US4197297 \"Patent\" Drug_Central:1153 SNOMEDCT:409138007 KEGG COMPOUND:C07693 \"KEGG COMPOUND\" LINCS:LSM-1609 KEGG:C07693 MeSH:D018818 SNOMEDCT:108590002 NCIt:C61759 CAS:67227-56-9" + "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" "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" @@ -34715,7 +34716,7 @@ "Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific." "MEDGEN:816693 ICD10CM:H47.2 Orphanet:401777 DOID:0112226 UMLS:C3810363 GARD:12903 OMIM:615722" "A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA." "MedDRA:10003601 MESH:D050197 NCIT:C35771 SCTID:441574008 ICD10CM:I70 NCIT:C35768 NCIt:C35768 SNOMEDCT:38716007 MeSH:D050197 MEDGEN:13948 ICD10:I70 ICD9:440 ICD9:440.8 DOID:1936 MONDO:0005311 UMLS:C0004153" "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." "SCTID:28861008 MESH:D003394 OMIM:123500 NORD:1018 UMLS:C0010273 DOID:2339 NCIT:C84653 icd11.foundation:1535725821 NANDO:1200666 NANDO:2200845 GARD:6206 MEDGEN:1162 Orphanet:207" - "An external caudal extension of the body. In chordates, the tail is post-anal, in other animals the anus ends in the tail." "BILA:0000117 GAID:1245 Wikipedia:Tail AEO:0000109 EFO:0000963 WBbt:0005741 EHDAA:9198 BTO:0001348 MESH:D013623 MAT:0000094 MIAA:0000094" + "An external caudal extension of the body. In chordates, the tail is post-anal, in other animals the anus ends in the tail." "MIAA:0000094 BILA:0000117 GAID:1245 Wikipedia:Tail AEO:0000109 EFO:0000963 WBbt:0005741 EHDAA:9198 BTO:0001348 MESH:D013623 MAT:0000094" "The determination of the amount of MAP kinase-activated protein kinase 5 in a sample" "PMID:28240269" "The amount of a His-Phe when measured in blood." "PMID:37253714" "Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait." "GARD:19049 Orphanet:85168 MEDGEN:929531 UMLS:C4303862" @@ -36058,7 +36059,7 @@ "A triglyceride in which the three acyl groups contain a total of 50 carbons and 5 double bonds." "COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder." "SCTID:732264002 UMLS:C4517377 OMIM:615643 MEDGEN:1387791 GARD:12571 Orphanet:397725 DOID:0110740" - "Region of cortex near to the rhinal sulcus. It is defined differently in different nomenclatures, due in part to the lack of agreement on the definition of the border of this region. In the rat, the perirhinal cortex occupies only caudal levels of the rhinal sulcus while in the monkey, it occurpies the full rostrocaudal extent of the rhinal sulcus (Burwell et al., Hippocampus, 5: 390-408, 1995)." "neuronames:2425 MESH:D000071039 NLXANAT:1005006 EFO:0001978 BAMS:PERI BTO:0004355 PBA:128012080 Wikipedia:Perirhinal_cortex BM:Tel-Cx-PRh MBA:922 BAMS:PRh MA:0000912 EMAPA:35682" + "Region of cortex near to the rhinal sulcus. It is defined differently in different nomenclatures, due in part to the lack of agreement on the definition of the border of this region. In the rat, the perirhinal cortex occupies only caudal levels of the rhinal sulcus while in the monkey, it occurpies the full rostrocaudal extent of the rhinal sulcus (Burwell et al., Hippocampus, 5: 390-408, 1995)." "neuronames:2425 MESH:D000071039 NLXANAT:1005006 EFO:0001978 BAMS:PERI PBA:128012080 BTO:0004355 Wikipedia:Perirhinal_cortex BM:Tel-Cx-PRh MBA:922 BAMS:PRh MA:0000912 EMAPA:35682" "OMIM:618821 UMLS:C5394173 MEDGEN:1720321" "Any process involved in the maintenance of an internal steady state of magnesium ions within an organism or cell." "GO:0010960" "Members of the class of nitrophenol carrying two nitro substituents." "CAS:25550-58-7" @@ -36726,7 +36727,7 @@ "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 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" + "A disease involving the pituitary gland." "MONDO:0003381 ICD9:253.8 ICD9:253.9 ICD9:253.1 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." "An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance." "Orphanet:352456 MEDGEN:1826064 UMLS:C5679930 GARD:21520" @@ -36930,7 +36931,7 @@ "The amount of a protein delta homolog 2 when measured in blood serum." "A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present." "MEDGEN:309255 NCIT:C40187 UMLS:C1517658 DOID:7483" "Infections with bacteria of the genus ACINETOBACTER." "DOID:3091 MeSH:D000151 UMLS:C0001139 MESH:D000151 MONDO:0006635 MEDGEN:1299" - "LOX-IMVI is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." "RRID:CVCL_1381 NCIt:C117181 BTO:0004151" + "LOX-IMVI is one of the cell lines of the NCI-60 panel which represents different cancer types and has been widely utilized for drug screening and molecular target identification." "NCIt:C117181 RRID:CVCL_1381 BTO:0004151" "This syndrome is characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis." "UMLS:C1855348 MESH:C565411 Orphanet:2172 GARD:3615 MEDGEN:343327 OMIM:248760" @@ -37071,7 +37072,7 @@ "A chemical treatment (EO:0007189) involving the application of inorganic chemical(s)." "The tumorigenic KS IMM cell line derives from Kaposi's sarcoma (KS), a highly angiogenic tumor." "BTO:0002070" "An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot." "UMLS:C1846821 UMLS:C0005779 SNOMEDCT_US:64779008 UMLS:C0019087 SNOMEDCT_US:362970003" - "A melanoma arising from and extending beyond the structures of the eye." "EFO:1000404 UMLS:C0278869 NCIT:C7913 MEDGEN:75884 MONDO:0006326" + "A melanoma arising from and extending beyond the structures of the eye." "EFO:1000404 UMLS:C0278869 NCIT:C7913 MONDO:0006326 MEDGEN:75884" "Quantification of one or more antibodies to the Epstein-Barr virus, typically in serum" "PMID:29868224" "A megalencephaly (disease) that is not part of a larger syndrome." "Orphanet:268920 GARD:20977" "quantification of a participant’s eye tracking while viewing stationary S-shaped figures" @@ -38326,7 +38327,7 @@ "Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)" "EFO:0007260 SCTID:61974008 MEDGEN:82848 MESH:D020802 DOID:11387 UMLS:C0270629 MONDO:0005752" "A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." "MESH:D015490 MONDO:0005801 UMLS:C0020097 DOID:323 MeSH:D015490 MEDGEN:6919" - "A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure." "ICD9:357.3 NCIt:C3981 MESH:D020364 DOID:8681 MEDGEN:124380 MedDRA:10062289 MeSH:D020364 UMLS:C0270932 NCIT:C3981 SCTID:77659000 MONDO:0006888" + "A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure." "NCIt:C3981 MESH:D020364 DOID:8681 MEDGEN:124380 MedDRA:10062289 MeSH:D020364 UMLS:C0270932 NCIT:C3981 SCTID:77659000 MONDO:0006888 ICD9:357.3" "The external membrane of Gram-negative bacteria or certain organelles such as mitochondria and chloroplasts; freely permeable to most ions and metabolites." "An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" "MedDRA:10001610 ICD9:291.0 DOID:8639 SNOMEDCT:8635005 SCTID:8635005 MESH:D000430 MeSH:D000430 MONDO:0006642 UMLS:C0001957 MEDGEN:1398" "The scalar number of injections administered to a material or organism." @@ -38749,7 +38750,7 @@ "The amount of a endophilin-A3 when measured in blood serum." "A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss." "MEDGEN:90233 MedDRA:10023076 MeSH:D021865 MONDO:0018769 icd11.foundation:137713224 Orphanet:472 UMLS:C0311386 DOID:2112 MESH:D021865 ICD10CM:A07.3 GARD:3033 NCIT:C4076 SCTID:371423007" - "A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma." "DOID:0080639 UMLS:C1704327 GARD:20547 ICD9:170.9 SCTID:448710000 Orphanet:223727 MEDGEN:352831 NCIT:C9312 MedDRA:10006007" + "A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma." "DOID:0080639 UMLS:C1704327 ICD9:170.9 GARD:20547 SCTID:448710000 Orphanet:223727 MEDGEN:352831 NCIT:C9312 MedDRA:10006007" "A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern." "DOID:6408 MEDGEN:233279 UMLS:C1335178 NCIT:C6256" "Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy." "MONDO:0015529 ORDO:Orphanet_157835 MEDGEN:235603 MedDRA:10019461 Orphanet:157835 UMLS:C1399352 SNOMEDCT:443094001 MESH:D051302 SCTID:443094001 GARD:10794 ICD9:339.03 MeSH:D051302" @@ -39164,7 +39165,7 @@ "Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." "OMIM:300455" "human hepatocellular carcinoma cell line from a 51 year old Japanese male with hepatocellular carcinoma" - "CLO:0003650 RRID:CVCL_1261" + "RRID:CVCL_1261 CLO:0003650" "A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE)." "SCTID:200938002 UMLS:C5574816 Orphanet:90281 NCIT:C26820 icd11.foundation:2144907708 GARD:19131 ICD10CM:L93.0 MEDGEN:1811126 MESH:D008179 MedDRA:10013072" "ZFA:0000787" "Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality." "MESH:D030243 DOID:5115 MeSH:D001912 MONDO:0005679 MESH:D001912" @@ -39930,7 +39931,7 @@ "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" - "MEDGEN:48263 Orphanet:79224 DOID:653 ICD9:277.2 MedDRA:10037546 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" @@ -39939,7 +39940,7 @@ "Quantification of palmitoleoyl-protein carboxylesterase NOTUM in a sample." "PMID:29875488" "Orphanet:79219 MEDGEN:1843271 GARD:18979 UMLS:C5681275" "Concentration of protoporphyrins in erythrocytes above the upper limit of normal." "UMLS:C4023007" - "Subdivision of skeleton that is an anterolateral part of the cranium and structurally supports the eye. Includes bones formed and located in sclerotic layer of eyeball." "TAO:0001410 BTO:0004687 ZFA:0001410 FMA:53074 galen:Orbit Wikipedia:Orbit_(anatomy) MESH:D009915 NCIT:C12347 GAID:223 UMLS:C0029180 MA:0002482 XAO:0003171" + "Subdivision of skeleton that is an anterolateral part of the cranium and structurally supports the eye. Includes bones formed and located in sclerotic layer of eyeball." "TAO:0001410 BTO:0004687 ZFA:0001410 galen:Orbit FMA:53074 Wikipedia:Orbit_(anatomy) MESH:D009915 NCIT:C12347 GAID:223 UMLS:C0029180 MA:0002482 XAO:0003171" "OMIM:619177 DOID:0112273 MEDGEN:1780365 UMLS:C5543033" "MEDGEN:1684867 UMLS:C5231400 OMIM:618009 GARD:18514" @@ -40453,7 +40454,7 @@ "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure." "MESH:C536231 Orphanet:217607 GARD:20525 OMIMPS:115200 UMLS:C0340427 MEDGEN:90951" "Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." "GARD:21387 MEDGEN:1842348 Orphanet:314709 UMLS:C5679901" - "The nasal septum separates the left and right airways in the nose, dividing the two nostrils. It is depressed by the Depressor septi nasi muscle. [WP,unvetted]." "EMAPA:17608 EHDAA2:0004104 UMLS:C0027432 VHOG:0000017 SCTID:181197004 AAO:0010135 NCIT:C33160 EHDAA2:0001234 Wikipedia:Nasal_septum EHDAA:6809 MESH:D009300 AAO:0000559 GAID:115 MA:0000285 FMA:54375" + "The nasal septum separates the left and right airways in the nose, dividing the two nostrils. It is depressed by the Depressor septi nasi muscle. [WP,unvetted]." "EMAPA:17608 FMA:54375 EHDAA2:0004104 UMLS:C0027432 VHOG:0000017 SCTID:181197004 AAO:0010135 NCIT:C33160 EHDAA2:0001234 Wikipedia:Nasal_septum EHDAA:6809 MESH:D009300 AAO:0000559 GAID:115 MA:0000285" "Strain family." "TGEMO:00041 MGI:3609372" "Single-nucleus droplet-based sequencing (snDrop-seq)" "PMID:29227469" "The amount of a Phosphatidylcholine (18:1_18:3) when measured in blood serum." @@ -42421,7 +42422,7 @@ "MEDGEN:344606 MESH:C538386 OMIM:239711 UMLS:C1855903" "A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23." "DOID:0111166 Orphanet:308400 OMIM:615501 MESH:C565374 UMLS:C1854990 PMID:11095995 MEDGEN:340761 GARD:17388" "A growth condition study design type is where some part of the growth condition is changed for the purposes of the experiment, examples of growth conditions changed are media, temperature, humidity, light, nutrients." "MO:588" - "A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." "MONDO:0005887 MESH:D014393 UMLS:C0041323 MEDGEN:52888 ICD9:017.90 MeSH:D014393 MedDRA:10076879 DOID:402 SCTID:235067001 ICD9:528.9" + "A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible." "MONDO:0005887 MESH:D014393 UMLS:C0041323 MEDGEN:52888 ICD9:017.90 MedDRA:10076879 MeSH:D014393 DOID:402 SCTID:235067001 ICD9:528.9" "An analyte assay in which an input material is mixed with antibodies and bound antigen:antibody complexes are separated out using immunoprecipitation. Either the antibody has known specificy, and the antigen mixture is tested for the presence of a specific antigen, or the antigen solution is well defined and the antibody solution is tested for the presence of antigen specific antibodies." "The glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus." "BTO:0004631" @@ -43789,7 +43790,7 @@ "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" "Orphanet:102369" @@ -43947,7 +43948,7 @@ "A concentration quality inhering in a bearer by virtue of the bearer's exhibiting concentration." "High throughput sample analysis of RNAi molecules for potential application in gene knockdown or gene silencing of target genes." "ERO:0001688" - "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma." "SCTID:15250008 NCIT:C26731 ICD9:371.30 UMLS:C0010034 ICD9:371.9 MONDO:0000942 ICD9:371.89 DOID:10124 NCIt:C26731 MESH:D003316 MEDGEN:3617" + "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma." "SCTID:15250008 NCIT:C26731 ICD9:371.30 ICD9:371.9 UMLS:C0010034 MONDO:0000942 ICD9:371.89 DOID:10124 NCIt:C26731 MESH:D003316 MEDGEN:3617" "Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." "MeSH:C535910 UMLS:C0796033 OMIM:248700 ICD10:Q87.0" "Ta stage is a bladder carcinoma stage characterised by non-invasive papillary carcinoma, sometimes called superficial bladder carcinoma. These are early stage cancers that are found only in the lining of the innermost layer of bladder and are considered one of the more treatable forms of bladder cancer." @@ -44367,7 +44368,7 @@ "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982." "GARD:345 UMLS:C0796264 MEDGEN:162925 Orphanet:3055 MESH:C536715" "Jaundice in perinates due to cellular damage of liver." "ICD9:774.4 MEDGEN:510683 MONDO:0006595 UMLS:C0158976 SCTID:10877007 DOID:11452 MedDRA:10034513" "A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion." "DOID:14150 MEDGEN:236836 NCIT:C5157 UMLS:C1336044" - "A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis." "MedDRA:10025028 UMLS:C0024110 NCIT:C99090 ICD9:513.0 NCIt:C99090 MONDO:0000744 SNOMEDCT:196108004 HP:0025044 MESH:D008169 DOID:850 DOID:0060317 SCTID:73452002 MeSH:D008169 MEDGEN:7397" + "A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis." "MedDRA:10025028 UMLS:C0024110 NCIT:C99090 ICD9:513.0 SNOMEDCT:196108004 NCIt:C99090 MONDO:0000744 HP:0025044 MESH:D008169 DOID:850 DOID:0060317 SCTID:73452002 MeSH:D008169 MEDGEN:7397" "Quantification of regulatory factor X-associated protein in a sample." "PMID:29875488" @@ -44577,7 +44578,7 @@ "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 UMLS:C0444439 VHOG:0001446 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 SCTID:245513001 EHDAA:7058 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" @@ -44696,7 +44697,7 @@ "OMIM:612674" "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy." "OMIM:270550 MESH:C536787 GARD:4910 MEDGEN:338620 UMLS:C1849140 SCTID:702445005 DOID:0050946 Orphanet:98" "HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)" - "Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children." "UMLS:C1384583 OMIM:305700 MESH:D054331 DOID:0050457 MEDGEN:235163 MeSH:D054331 ICD9:752.89 NCIT:C168988 MONDO:0010595 SCTID:73465006" + "Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children." "UMLS:C1384583 OMIM:305700 MESH:D054331 DOID:0050457 MeSH:D054331 MEDGEN:235163 ICD9:752.89 NCIT:C168988 MONDO:0010595 SCTID:73465006" "Quantification of killer cell immunoglobulin-like receptor 2DL2 in a sample." "PMID:29875488" "NCIt:C66975" "The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3." "ICD10CM:E23.0 OMIM:308700 MEDGEN:295872 GARD:3071 NCIT:C75480 DOID:0090094 UMLS:C1563719" @@ -44817,7 +44818,7 @@ "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" "The amount of a DNA-directed RNA polymerase II subunit GRINL1A when measured in blood serum." "Quantification of the amount of N1-acetylspermidine in a sample." "PMID:35995766" - "The part of the retina that contains neurons and photoreceptor cells[GO]." "EMAPA:17171 EHDAA:4763 EHDAA2:0001253 AAO:0011095 MA:0000277 TAO:0000046 VHOG:0000535 FMA:58628 CALOHA:TS-0685 XAO:0003216 NCIT:C33166 EMAPA:18590 BTO:0000929 ZFA:0000046 UMLS:C1518263" + "The part of the retina that contains neurons and photoreceptor cells[GO]." "UMLS:C1518263 EMAPA:17171 EHDAA:4763 EHDAA2:0001253 AAO:0011095 MA:0000277 TAO:0000046 VHOG:0000535 FMA:58628 CALOHA:TS-0685 XAO:0003216 NCIT:C33166 EMAPA:18590 BTO:0000929 ZFA:0000046" "Orphanet:369873 GARD:21580 UMLS:C5191050 MEDGEN:1680592" "Human skin malignant melanoma cells that can be ordered from ATCC. This is a hyperdiploid human cell line with the modal chromosome number of 49, occurring in 24% of cells. Polyploid cells occurred at 22%, which is high. Cells are adherent, and were first harvested in 1971 from a metastatic site in a lymph node." "CLO:0008877 RRID:CVCL_1666 BTO:0003508" @@ -45013,7 +45014,7 @@ "Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14." "Orphanet:262110 MEDGEN:444119 GARD:3722 UMLS:C2931697" - "A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." "DOID:7959 MEDGEN:272550 NCIT:C5731 UMLS:C1333321" + "A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." "MEDGEN:272550 DOID:7959 NCIT:C5731 UMLS:C1333321" "Quantification of the metabolism rate of drugs such as psychotropic drugs, defined as the quotient of a drug's serum concentration (in nmol/L) by its prescribed daily dosage (in mg/day). This measure can also be standardised to allow comparison across multiple drugs by dividing individual CDR values by a reference CDR for the specific drug. " "PMID:25944848" @@ -45176,7 +45177,7 @@ "The EAhy 926 cell is a hybridoma line derived from human endothelium and A549/8 cells. They display stable endothelial characteristics and may provide an indication of how endothelial cells respond to photodynamic therapy." "RRID:CVCL_3901 BTO:0000396" "A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." "GARD:484 DOID:0060226 SCTID:720408003 Orphanet:1784 MEDGEN:349729 UMLS:C1860118" - "A malignant neoplasm involving the nasal cavity" "MEDGEN:152601 UMLS:C0728864 SCTID:363422006 DOID:10811 NCIT:C4918 ICD9:160.0" + "A malignant neoplasm involving the nasal cavity" "UMLS:C0728864 MEDGEN:152601 SCTID:363422006 DOID:10811 NCIT:C4918 ICD9:160.0" "Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII)." "MeSH:D006313 MedDRA:10040018 HP:0000407 NCIT:C26739 MONDO:0020678 NCIt:C26739 ICD10:H90 ICD9:389.1 DOID:10003 MedDRA:10040015 MedDRA:10040016 UMLS:C0018784 SCTID:60700002 MEDGEN:9164 SNOMEDCT:60700002" "MEDGEN:1684771 UMLS:C5231478 OMIM:618728" "The amount of a beta-defensin 108B when measured in blood serum." @@ -45700,7 +45701,7 @@ "DOID:0070385 UMLS:C5562018 OMIM:619606 MEDGEN:1794228" "Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age." "MEDGEN:5861 DOID:9868 MONDO:0004905 SCTID:22169002 NCIT:C34731 UMLS:C0021830 ICD9:271.3" "OMIM:178110 ICD10:Q79.8" - "An olefinic compound that is trans-hex-3-ene in which the hydrogens at positions 3 and 4 have been replaced by p-hydroxyphenyl groups." "MeSH:D004054 PDBeChem:DES PMID:29658110 Wikipedia:Diethylstilbestrol PMID:25934356 PMID:29344720 DrugBank:DB00255 PMID:28461243 PMID:16665969 HMDB:HMDB0014400 PMID:15322263 PMID:30594671 PMID:21795073 PMID:9202463 FooDB:FDB007498 PMID:31283846 PMID:8832405 PMID:31119346 PMID:24247716 PMID:31119342 Beilstein:2056095 PMID:31280197 CAS:56-53-1 PMID:30049842 Drug_Central:875 PMID:21852823 KEGG:D00577 PMID:30866048 PMID:31300300 PMID:29609831 NCIt:C433 SNOMEDCT:396026002 PMID:30153466 PMID:31259848 PMID:19303142 PMID:30758926 PMID:31247589 PMID:12877905 KEGG:C07620 PMID:30685453" + "An olefinic compound that is trans-hex-3-ene in which the hydrogens at positions 3 and 4 have been replaced by p-hydroxyphenyl groups." "MeSH:D004054 PDBeChem:DES PMID:29658110 Wikipedia:Diethylstilbestrol PMID:25934356 PMID:29344720 DrugBank:DB00255 PMID:28461243 PMID:16665969 HMDB:HMDB0014400 PMID:15322263 PMID:30594671 PMID:21795073 PMID:9202463 FooDB:FDB007498 PMID:31283846 PMID:8832405 PMID:31119346 PMID:24247716 PMID:31119342 Beilstein:2056095 CAS:56-53-1 PMID:31280197 PMID:30049842 Drug_Central:875 PMID:21852823 KEGG:D00577 PMID:30866048 PMID:31300300 PMID:29609831 NCIt:C433 SNOMEDCT:396026002 PMID:30153466 PMID:31259848 PMID:19303142 PMID:30758926 PMID:31247589 PMID:12877905 KEGG:C07620 PMID:30685453" "The amount of a insulin-like growth factor I when measured in blood serum." "Quantification of the amount of weight gained by a woman during late pregnancy." "PMID:28990592" "A region of the serous membrane that forms the innermost layer of the pericardium and the outer surface of the heart." "TAO:0005057 ZFA:0005057 EHDAA2:0002202 UMLS:C0225968 NCIT:C13164 Wikipedia:Epicardium FMA:9461 VHOG:0000119 galen:Epicardium AAO:0010409 XAO:0000316" @@ -45940,7 +45941,7 @@ "An autosomal recessive muscular disorder characterized by infantile onset of progressive muscular atrophy, hypotonia, ptosis, scoliosis and dysmorphic facial features. Disease severity is variable, ranging from mild to severe." "OMIM:618578" "The quantification of sphingomyelin 16:1 levels in a sample." "PMID:23823483" "The amount of a three prime repair exonuclease 2 when measured in blood serum." - "A viral infection that is transmitted by an arthropod." "UMLS:C0003723 MEDGEN:389 DOID:934 MESH:D001102 NCIT:C34396 MONDO:0020731 MeSH:D001102 SCTID:40610006" + "A viral infection that is transmitted by an arthropod." "UMLS:C0003723 DOID:934 MEDGEN:389 MESH:D001102 NCIT:C34396 MONDO:0020731 MeSH:D001102 SCTID:40610006" "A carbobicyclic compound that is prostaglandin I2 in which the endocyclic oxygen is replaced by a methylene group and in which the (1E,3S)-3-hydroxyoct-1-en-1-yl side chain is replaced by a (3R)-3-hydroxy-4-methyloct-1-en-6-yn-1-yl group. A synthetic analogue of prostacyclin, it is used as the trometamol salt (generally by intravenous infusion) for the treatment of peripheral vascular disease and pulmonary hypertension." "ChEMBL:107494 NCIt:C48397 KEGG DRUG:D02721 PMID:15241524 CiteXplore:15241524 Wikipedia:Iloprost KEGG:D02721 CiteXplore:14719835 SNOMEDCT:319452005 Patent:DE2845770 CAS:78919-13-8 DrugBank:DB01088 KEGG DRUG:78919-13-8 PMID:14719835 CiteXplore:19436672 Reaxys:4329060 PMID:15232651 SNOMEDCT:395740002 MeSH:D016285 Patent:US4692464 Drug_Central:1422 PMID:19436672 CiteXplore:15232651" "Quantification of leucine-rich repeat transmembrane neuronal protein 2 in a sample." "PMID:29875488" "A tumor (abnormal growth of tissue) of the respiratory system." "ICD10CM:C30-C39 SCTID:126667002 MONDO:0020641 MeSH:D012142 NCIt:C3355 HP:0100606 ICD10:D38 NCIT:C3355 ICD10:D14 MEDGEN:11200 UMLS:C0035244 MESH:D012142" @@ -46022,7 +46023,7 @@ "OMIM:616708 ICD10:Q83.5" - "human colorectal adenocarcinoma cell line established from the metastatic nodule resected from a 56-year-old Caucasian man with colon adenocarcinoma in 1972 (DSMZ catalog number ACC 350)" "CLO:0007377 CLO:0007378 RRID:CVCL_0399 CLO:0050632 BTO:0000666" + "human colorectal adenocarcinoma cell line established from the metastatic nodule resected from a 56-year-old Caucasian man with colon adenocarcinoma in 1972 (DSMZ catalog number ACC 350)" "BTO:0000666 CLO:0007377 CLO:0007378 RRID:CVCL_0399 CLO:0050632" "RRID:CVCL_0042 CLO:0009454" "Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region." "UMLS:C4280642 UMLS:C4082243 UMLS:C4280641 UMLS:C0240310 UMLS:C4280643 UMLS:C4280640" "Quantification of the amount of 1-palmityl-2-arachidonoyl-GPC (O-16:0/20:4) in a sample." "PMID:35347128" @@ -47522,7 +47523,7 @@ "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." "UMLS:C0856975 UMLS:C1510586" "The amount of a ubiquitin-conjugating enzyme E2 variant 2 when measured in blood serum." "The amount of a glutathione S-transferase mu 4 when measured in blood serum." - "Infection of the spleen with species of mycobacterium." "MEDGEN:11949 MeSH:D014400 DOID:9305 MESH:D014400 SCTID:28399005 MONDO:0005967 UMLS:C0041331 ICD9:017.7" + "Infection of the spleen with species of mycobacterium." "MEDGEN:11949 MeSH:D014400 DOID:9305 SCTID:28399005 MESH:D014400 MONDO:0005967 UMLS:C0041331 ICD9:017.7" "Quantification of the amount of nonanoylcarnitine (C9) in a sample." "PMID:35347128" "The specialized accessory gland of the skin of female mammals that secretes milk. In the human female, it is a compound tubuloalveolar gland composed of 15 to 25 lobes arranged radially about the nipple and separated by connective and adipose tissue, each lobe having its own excretory (lactiferous) duct opening on the nipple. The lobes are subdivided into lobules, with the alveolar ducts and alveoli being the secretory portion of the gland." "FMA:62088 BTO:0000817 MAT:0000073 EMAPA:17759 SAEL:64 EHDAA:6522 MA:0000145 EV:0100125" @@ -48237,7 +48238,7 @@ "A monocyte early outgrowth colony forming unit measurement is the result of a cell culture assay in which monocytes are plated on fibronectin plates and morphology and growth assessed in an assay which correlates circulating cells and vascular function. The output of the assay is a measure of how many colonies were formed, at what point and their morphology." "OMIM:159550" "The amount of a alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 when measured in blood serum." - "Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." "EFO:1000479 NCIT:C8893 MONDO:0006374 MEDGEN:167782 UMLS:C0855173 SCTID:448401007 DOID:2024" + "Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." "EFO:1000479 NCIT:C8893 MEDGEN:167782 MONDO:0006374 UMLS:C0855173 SCTID:448401007 DOID:2024" "Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat." "OMIM:300855 DOID:0050781 Orphanet:276432 UMLS:C3275447 MESH:C536107 GARD:17281 HGNC:7645 MEDGEN:477078 NCIT:C188215" "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 oxcarbazepine stimulus, an anti-epileptic drug." @@ -48267,7 +48268,7 @@ "A member of the class of pyrimidines that is pyrimidine carrying an isopropyl group at position 2, a methyl group at position 6 and a (diethoxyphosphorothioyl)oxy group at position 4." "HMDB:HMDB0032943 PPDB:212 MetaCyc:CPD-8965 KEGG:C14324 KEGG:D07856 PMID:18819606 PMID:14536034 VSDB:212 Wikipedia:Diazinon Beilstein:273790 Pesticides:diazinon Reaxys:273790 CAS:333-41-5" "Any process involved in the maintenance of an internal steady state of triglyceride within an organism or cell." "GO:0070328" "A mature CD8-positive, CD4-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor." - "Tumors or cancer of the BRONCHI." "MONDO:0002807 MESH:D001984 DOID:3906 MEDGEN:2735 UMLS:C0006264 HP:0030077 MedDRA:10052245 NANDO:2200081 MeSH:D001984 SCTID:126705004" + "Tumors or cancer of the BRONCHI." "MONDO:0002807 MESH:D001984 DOID:3906 MEDGEN:2735 UMLS:C0006264 HP:0030077 NANDO:2200081 MedDRA:10052245 MeSH:D001984 SCTID:126705004" "OMIM:269860 ICD10:Q77.2" "Separation of the PUBIC SYMPHYSIS. It is an uncommon complication of CHILDBIRTH causing postpartum PAIN, but it can also arise from other causes." "Wikipedia:Diastasis_symphysis_pubis MeSH:D046548" "Catalysis of the reaction: a 2-oxo acid = an aldehyde + CO2." "MetaCyc:PYRUVATE-DECARBOXYLASE-RXN EC:4.1.1.1 RHEA:11628" @@ -48470,7 +48471,7 @@ "A (1->4)-beta-D-glucan compound formed by methylating cellulose through exposure to NaOH/CH3Cl." "Beilstein:11200258 Beilstein:8189187 SNOMEDCT:24504000 CAS:9004-67-5 MeSH:D008747 NCIt:C29253 KEGG:D04996 SNOMEDCT:387131008" "UMLS:C1862100 OMIM:113310 MeSH:C537930 ICD10:Q73.8" - "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. [ NCIT ]" "SCTID:15250008 NCIT:C26731 ICD9:371.30 UMLS:C0010034 ICD9:371.9 MONDO:0000942 ICD9:371.89 DOID:10124 NCIt:C26731 MESH:D003316 MEDGEN:3617" + "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. [ NCIT ]" "SCTID:15250008 NCIT:C26731 ICD9:371.30 ICD9:371.9 UMLS:C0010034 MONDO:0000942 ICD9:371.89 DOID:10124 NCIt:C26731 MESH:D003316 MEDGEN:3617" "A 3',5'-cyclic purine nucleotide that is the 2'-butanoate ester and 6-N-butanoyl derivative of 3',5'-cyclic AMP." "PMID:23335001 CAS:362-74-3 Wikipedia:Bucladesine PMID:29963999 Beilstein:871714 LINCS:LSM-1926 MeSH:D003994 NCIt:C83562 Drug_Central:415 PMID:27022216 PMID:20353690 KEGG:D07546 Reaxys:871714 PMID:15231695" "2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." "ICD10:Q93.5" "BALB/c is a mouse strain of albion mice." "NIFSTD:birnlex_206" @@ -49247,7 +49248,7 @@ "A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." "MEDGEN:60009 NCIT:C27004 DOID:4015 ICDO:8032/3 UMLS:C0205697 EFO:1000520 MONDO:0006406 ICDO:8033/3" "A measurement of the standard deviation of hemoglobin concentrations in individual red blood cells, calculated as the standard deviation of hemoglobin content divided by the mean hemoglobin content. [ NCI ]" "NCIt:C139068" - "A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS." "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" + "A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS." "MEDGEN:41766 ICD9:253.8 SNOMEDCT:237722004 SCTID:237722004 NCIT:C84686 UMLS:C0014008 MESH:D004652 DOID:3642 MONDO:0006740 NCIt:C84686 MeSH:D004652 MedDRA:10014567" "A carcinoma that involves the pharynx." "NCIT:C9466 MEDGEN:757152 SCTID:449254004 UMLS:C3164746" "Any behaviour related to suicide, including suicide ideation and self-harm" "The amount of a Phosphatidylcholine (16:0_18:3) when measured in blood serum." @@ -49371,7 +49372,7 @@ "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 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 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" @@ -49545,7 +49546,7 @@ "A quinolone that is quinolin-4(1H)-one bearing cyclopropyl, carboxylic acid, fluoro and piperazin-1-yl substituents at positions 1, 3, 6 and 7, respectively." "VSDB:1763 MeSH:D002939 CAS:85721-33-1 Beilstein:3568352 PMID:10397494 PDBeChem:CPF PMID:10737746 DrugBank:DB00537 SNOMEDCT:7577004 LINCS:LSM-5226 Drug_Central:659 SNOMEDCT:372840008 HMDB:HMDB0014677 KEGG:C05349 Wikipedia:Ciprofloxacin Reaxys:3568352 NCIt:C375 Patent:DE3142854 KEGG:D00186 Patent:US4670444" "A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)" "DOID:14221 OMIM:605552 MeSH:D024821 MedDRA:10052066 ICD9:277.7 SNOMEDCT:237602007 NCIt:C84442 OMIM:615812" "Mature interstitial dendritic cell is a interstitial dendritic cell that is CD80-high, CD86-high, MHCII-high and is CD83-positive." - "Vein that is central to a lobule in the liver." "ZFA:0005168 NCIT:C32281 FMA:17544 SCTID:272023004 Wikipedia:Central_veins_of_liver TAO:0005168" + "Vein that is central to a lobule in the liver." "ZFA:0005168 SCTID:272023004 NCIT:C32281 FMA:17544 Wikipedia:Central_veins_of_liver TAO:0005168" "short or long term physiological response of an organism, eg in terms of deposits of dust particles in lung tissues, to exposure to biological dust, usually of occupational or environment origin" "binge eating with or without purging" "SCTID:439960005 MONDO:0005582 NCIt:C97162 MedDRA:10004716 MEDGEN:154543 MESH:D002032 NCIT:C97162 UMLS:C0596170" "A cell involved in the formation of a granulocyte." "FMA:83519" @@ -49589,7 +49590,7 @@ "Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)" "DOID:4205 MeSH:D002528" "OMIM:620510" - "An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." "UMLS:C2168304 MONDO:0003372 MEDGEN:378348 EFO:1001975 NCIT:C40318 DOID:5286" + "An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." "UMLS:C2168304 MONDO:0003372 EFO:1001975 MEDGEN:378348 NCIT:C40318 DOID:5286" "OMIM:261100 ICD10:D51.1" "The determination of the amount of caspase-2 in a sample" "PMID:28240269" "A cancer that involves the skin of eyelid." "Orphanet:98584 SCTID:423425006" @@ -51076,7 +51077,7 @@ "Mastication of tobacco, correlated with an increased risk of oral cancers." "The amount of a galactosylceramide sulfotransferase when measured in blood serum." - "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." "OMIM:607339 MEDGEN:375884 UMLS:C1846418" + "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." "UMLS:C1846418 OMIM:607339 MEDGEN:375884" "The umbilical vein is a blood vessel present during fetal development that carries oxygenated blood from the placenta to the growing fetus. [WP,unvetted]." "MESH:D014471 CALOHA:TS-1082 EHDAA:1034 EHDAA:488 FMA:70317 SCTID:367567000 Wikipedia:Umbilical_vein EFO:0001940 UMLS:C0041637 RETIRED_EHDAA2:0002107 EV:0100392 EMAPA:16375 EMAPA:16243 MA:0002249 NCIT:C33830 GAID:542 BTO:0001509" "A childhood-onset epilepsy syndrome that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit." "SCTID:44145005 MEDGEN:138210 DOID:3329 icd11.foundation:1046279423 UMLS:C0376532 GARD:10287 ICD9:345.80 NCIT:C116538 Orphanet:1945 OMIM:117100" "COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism." "DOID:0070259 GARD:10226 MEDGEN:443957 MESH:C535756 Orphanet:263508 OMIM:611209 SCTID:718750004 UMLS:C2931011" @@ -51139,7 +51140,7 @@ "Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth." "UMLS:C1846617 Orphanet:1094 SCTID:720494009 MEDGEN:339565 OMIM:607214 GARD:5123" "A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative." "A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade)." "NCIT:C27031 MONDO:0005815 Orphanet:506052 icd11.foundation:1421495979 DOID:1799 SCTID:254611009 MeSH:D007516 ICDO:8150/1 GARD:22052" - "A disease involving the biliary tree." "ICD10:K83 UMLS:C0549613 MESH:D001660 MeSH:D001660 SCTID:105997008 MedDRA:10004676 ICD9:576.9 MEDGEN:108201 ICD10:K83.9 DOID:9741 MONDO:0004868" + "A disease involving the biliary tree." "ICD10:K83 UMLS:C0549613 MESH:D001660 MeSH:D001660 SCTID:105997008 ICD9:576.9 MedDRA:10004676 MEDGEN:108201 ICD10:K83.9 DOID:9741 MONDO:0004868" "A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly." "SCTID:254955001 GARD:9371 MEDGEN:91096 UMLS:C0346300 HP:0011763 NCIT:C4536 DOID:4916 ONCOTREE:PTCA ICDO:8272/3 Orphanet:300385" "Quantification of alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B in a sample." "PMID:29875488" "The amount of a carcinoembryonic antigen-related cell adhesion molecule 20 when measured in blood serum." @@ -51235,7 +51236,7 @@ "Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene." "DOID:0112000 OMIM:300645 NANDO:2201279 MESH:C567068 UMLS:C1970859 MEDGEN:370369 Orphanet:319623" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene." "OMIM:600101 DOID:0110558 MEDGEN:436997 MESH:C567441 UMLS:C2677637 GARD:18099" "A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis." "ICD9:459.10 MEDGEN:46043 DOID:2364 UMLS:C0032807 SCTID:20427003 ICD9:459.13 MESH:D011186 ICD10CM:I87.0 MeSH:D054070 MONDO:0005928 ICD9:459.11 ICD9:459.1 ICD9:459.12" - "An inflammatory process affecting the pericardium." "MEDGEN:18377 ICD10:I31 UMLS:C0031046 MONDO:0005904 ICD10:I30 DOID:1787 SCTID:3238004 NCIT:C34915 Orphanet:58208 MESH:D010493 MedDRA:10034484 HP:0001701 MeSH:D010493" + "An inflammatory process affecting the pericardium." "MEDGEN:18377 ICD10:I31 UMLS:C0031046 ICD10:I30 DOID:1787 MONDO:0005904 SCTID:3238004 NCIT:C34915 Orphanet:58208 MESH:D010493 MedDRA:10034484 HP:0001701 MeSH:D010493" "Anterior cervical hypertrichosis is a rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood." "OMIM:600457 Orphanet:3387 SCTID:717963001 MEDGEN:325346 GARD:8438 UMLS:C1838123 MESH:C538390" "OMIM:600461 ICD10:D58.8" @@ -52934,7 +52935,7 @@ "human acute myeloid leukemia cell line established from erythroleukemia blasts (AML M6) of a 62-year-old patient following a 7-year chlorambucil treatment for chronic lymphocytic leukemia (DSMZ catalog number ACC 529)" "MEDGEN:1802965 OMIM:619840 UMLS:C5676968" "The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord." "VHOG:0000107 AAO:0011017 EFO:0003647 Wikipedia:Chordamesoderm TAO:0001204 XAO:0000205 ZFA:0001204" - "Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]." "BTO:0000416 FMA:9639 CARO:0000066 MESH:D004848 Wikipedia:Epithelium UMLS:C0014609 FBbt:00007005 ZFA:0001486 SCTID:31610004 EHDAA2:0003066 MA:0003060 CALOHA:TS-0288 VHOG:0000387 XAO:0003045 HAO:0000066 AAO:0010055 AEO:0000066 NCIT:C12710 GAID:402 AAO:0000144 TAO:0001486 BILA:0000066 EMAPA:32738" + "Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]." "BTO:0000416 FMA:9639 CARO:0000066 MESH:D004848 Wikipedia:Epithelium UMLS:C0014609 FBbt:00007005 SCTID:31610004 EHDAA2:0003066 ZFA:0001486 MA:0003060 CALOHA:TS-0288 VHOG:0000387 XAO:0003045 HAO:0000066 AAO:0010055 AEO:0000066 NCIT:C12710 GAID:402 AAO:0000144 TAO:0001486 BILA:0000066 EMAPA:32738" "A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein." "UMLS:C0334633 ONCOTREE:LPL SCTID:190817009 DOID:0050747 NCIT:C3212 ICD9:273.3 ICDO:9761/3 MEDGEN:473052 ICDO:9671/3" "The determination of the amount of Citraconic acid in a blood sample" "PubChem:643798 KEGG COMPOUND:C02214" "Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share." "DOID:3261 OMIM:147060 OMIM:615816 MeSH:D007589 NCIt:C3144 SNOMEDCT:50926003" @@ -52965,7 +52966,7 @@ "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." @@ -54388,7 +54389,7 @@ "GARD:17559 OMIMPS:158600 Orphanet:363447 DOID:0070348" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene." "OMIM:607208" - "An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion." "UMLS:C0279652 MEDGEN:83537 NCIT:C7973 DOID:3709" + "An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion." "MEDGEN:83537 UMLS:C0279652 NCIT:C7973 DOID:3709" "UMLS:C5681710 GARD:19464 ICD10CM:D53.0 Orphanet:98415 MEDGEN:1842832" "An aryl sulfate that is p-cresol in which the phenolic hydrogen has been replaced by a sulfo group." "PMID:10775436 PMID:25147155 PMID:18941347 PMID:24231664 PMID:21751871 HMDB:HMDB0011635 Reaxys:2259968" "A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe." @@ -55227,7 +55228,7 @@ "Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system." "A condition in which the FORESKIN, once retracted, cannot return to its original position. If this condition persists, it can lead to painful constriction of GLANS PENIS, swelling, and impaired blood flow to the penis." "NCIt:C34893 MedDRA:10033890 SNOMEDCT:13758004 MeSH:D010263 SCTID:13758004 DOID:5334 MESH:D010263 ICD10CM:N47.2 UMLS:C0030483 MEDGEN:14611 MONDO:0006889 NCIT:C34893" "A condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that precipitate within the microvasculature on exposure to cold; microvasculature effects of cryoglobulinemia may result in restricted tissue blood flow, tissue hypoxia, and tissue necrosis. --2004" "MONDO:0005576 NCIT:C26736 SCTID:30911005 ICD9:273.2 MESH:D003449 MEDGEN:3673 SNOMEDCT:30911005 MedDRA:10011475 UMLS:C0010403 ICD10CM:D89.1 NCIt:C26736 DOID:2917 MeSH:D003449" - "A mature male germ cell that develops from a spermatid." "ZFA:0009006 NCIt:C12602 CALOHA:TS-0949 BTO:0002046 WBbt:0005321 SAEL:93 BTO:0001277 NCIt:C13277 MeSH:D012661 FBbt:00004954 FMA:67338 WBbt:0006798 MA:0002765 MAT:0000131" + "A mature male germ cell that develops from a spermatid." "ZFA:0009006 NCIt:C12602 CALOHA:TS-0949 BTO:0002046 WBbt:0005321 SAEL:93 BTO:0001277 NCIt:C13277 FBbt:00004954 MeSH:D012661 FMA:67338 WBbt:0006798 MA:0002765 MAT:0000131" "Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." "OMIM:128230 ICD10:G24.1" "A disease that affects the small or large intestine." "ICD9:564 ICD9:560-569.99 ICD9:564.4 UMLS:C0021831 ICD9:569.9 ICD10:A04 ICD9:570-579.99 MONDO:0005020 NCIt:C26801 ICD9:569 SCTID:85919009 MESH:D007410 ICD10:A08 NCIT:C26801 ICD9:520-579.99 ICD9:569.4 DOID:5295 ICD10:K63 ICD9:575 ICD9:569.49 ICD9:569.89 MEDGEN:7130" "Quantification of DDB1- and CUL4-associated factor 5 in a sample." "PMID:29875488" @@ -55603,7 +55604,7 @@ "Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly." "GARD:17093 Orphanet:199315 UMLS:C5680522 MEDGEN:1843133" "One of the paired anterior appendicular organs of the insect head." "MAT:0000086 BTO:0000074 FBbt:00004511 TGMA:0000007" - "One of two bilateral, largely symmetrical organ subdivisions within the telencephalon which contain the cerebral cortex and cerebral white matter.[FMA]." "MBA:403 FMA:61817 SCTID:278251007 MA:0000133 VHOG:0001639 CALOHA:TS-2007 BIRNLEX:1042 EFO:0002521 DMBA:15739 Wikipedia:Cerebral_hemisphere UMLS:C0228174 AAO:0010480 BAMS:HEM NCIT:C12351 galen:CerebralHemisphere EMAPA:16653 UMLS:C0242202 BTO:0000231 neuronames:241" + "One of two bilateral, largely symmetrical organ subdivisions within the telencephalon which contain the cerebral cortex and cerebral white matter.[FMA]." "MBA:403 neuronames:241 FMA:61817 SCTID:278251007 MA:0000133 VHOG:0001639 CALOHA:TS-2007 BIRNLEX:1042 EFO:0002521 DMBA:15739 Wikipedia:Cerebral_hemisphere UMLS:C0228174 AAO:0010480 BAMS:HEM NCIT:C12351 galen:CerebralHemisphere EMAPA:16653 UMLS:C0242202 BTO:0000231" "The amount of a ferritin heavy chain when measured in blood serum." "A small round cell tumor with neural differentiation arising from the soft tissues or bone." "NANDO:2200054 ICDO:9364/3 NANDO:2200055 GARD:17601 MEDGEN:151926 Orphanet:370348 UMLS:C0684337 NCIT:C9341" "An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor." "UMLS:C1333750 MEDGEN:234292 NCIT:C5744 DOID:6998" @@ -55793,7 +55794,7 @@ "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 UMLS:C0231067 EHDAA:579 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" @@ -55911,7 +55912,7 @@ "The determination of the amount of aromatic-l-amino-acid decarboxylase in a sample" "PMID:28240269" "Orphanet:459353 OMIM:120790 NANDO:1200365 MEDGEN:343867 DOID:0060002 UMLS:C1852700 NANDO:2200795" - "An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells." "NCIT:C6619 DOID:5292 UMLS:C1334660 MEDGEN:235310" + "An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells." "MEDGEN:235310 NCIT:C6619 DOID:5292 UMLS:C1334660" "A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter." "NCIt:C5978" "Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." "SCTID:721974000 UMLS:C0796020 OMIM:600252 MEDGEN:167095 MESH:C537037 GARD:3300 Orphanet:2409" @@ -55947,7 +55948,7 @@ "An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome." "Orphanet:309816 MEDGEN:1671515 UMLS:C0349427 icd11.foundation:1297666279 GARD:21347" "NON-OBESE CONTROLS MONOZYGOTIC TWIN PAIRS APPARENTLY HEALTHY NON-FETAL TISSUE" "The amount of a zinc finger protein 774 when measured in blood serum." - "The external sac of skin that encloses the testes. It is an extension of the abdomen, and in placentals is located between the penis and anus." "CALOHA:TS-2341 FMA:18252 BTO:0003098 MESH:D012611 galen:Scrotum EMAPA:19296 GAID:393 MA:0000409 SCTID:265794003 NCIT:C12785 UMLS:C0036471 Wikipedia:Scrotum" + "The external sac of skin that encloses the testes. It is an extension of the abdomen, and in placentals is located between the penis and anus." "CALOHA:TS-2341 FMA:18252 BTO:0003098 MESH:D012611 EMAPA:19296 galen:Scrotum GAID:393 MA:0000409 SCTID:265794003 NCIT:C12785 UMLS:C0036471 Wikipedia:Scrotum" "Part of the ventricular system of the brain in each of the cerebral hemispheres. The lateral ventricle in each hemisphere is separated from the other by the septum and each communicates with the THIRD VENTRICLE by the foramen of Monro, In species, particularly those with well developed cortex, the lateral ventrical may be subdivided into anterior, posterior and temporal horns and a body" "MeSH:D020547 NIFSTD:birnlex_1263 BTO:0000879 NCIt:C12834" "Quantification of calcineurin B homologous protein 3 in a sample." "PMID:29875488" "The point at which a clinical diagnosis is made." "SNOMEDCT:432213005" @@ -56369,7 +56370,6 @@ "Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene." "OMIM:613957 UMLS:C3151406 MEDGEN:462756 GARD:15734 DOID:0070169" "Quantification of histone-lysine N-methyltransferase SETMAR in a sample." "PMID:29875488" "A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes." "UMLS:C1851100 SNOMEDCT_US:715440003" - "An episode of depression lasting two or more weeks without an intervening episode of mania." "MFOMD:0000143 MeSH:D003865 ICD9:296.20 SNOMEDCT:370143000 MEDGEN:266123 DOID:2848 SNOMEDCT:300706003 UMLS:C1269683 SCTID:300706003 DOID:1470 MedDRA:10045543 ICD9:296.2 ICD9:296.30 DOID:1595 NCIt:C35094 NCIT:C35094 ICD9:296.3 ICD10:F32 SNOMEDCT:321717001 ICD10:F33 MESH:D003865 MONDO:0002009 OMIM:608516 SCTID:370143000" "UMLS:C4755278 MEDGEN:1665220 GARD:17026 Orphanet:166105" @@ -56600,7 +56600,7 @@ "OMIM:193090 ICD10:E53.8" "KEGG:C03413 Beilstein:11213521" "Physiological response of an organism to being given potassium as a dietary supplement." - "This line was derived from the a 5-bromo-2'-deoxyuridine resistant strain of the Fischer rat fibroblast 3T3 like cell line, Rat1. Rat2 lacks detectable nuclear thymidine kinase, is highly transfectable by exogenous DNA and is phenotypically normal." " CLO:0008750 RRID:CVCL_0513 BTO:0002874 CLO:0008749" + "This line was derived from the a 5-bromo-2'-deoxyuridine resistant strain of the Fischer rat fibroblast 3T3 like cell line, Rat1. Rat2 lacks detectable nuclear thymidine kinase, is highly transfectable by exogenous DNA and is phenotypically normal." "RRID:CVCL_0513 CLO:0008750 BTO:0002874 CLO:0008749" "Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting." "ICD10:S12 ICD10:T08 MESH:D016103 MeSH:D016103 ICD10:S32 NCIt:C80516 SCTID:50448004 MONDO:0005309 MedDRA:10041569" "The amount of a DNA-directed RNA polymerases I, II, and III subunit RPABC4 when measured in blood serum." @@ -56669,7 +56669,7 @@ "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." "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 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 SCTID:181011002 FMA:37069 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" @@ -56757,7 +56757,7 @@ "SNOMEDCT:408111007 KEGG COMPOUND:C01811 KEGG:C01811 NCIt:C83731 DrugBank:DB01296 MeSH:D005944 SNOMEDCT:70237008" "An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group." "UMLS:C1336971 NCIT:C7533 MEDGEN:237052" - "An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." "MEDGEN:11949 MeSH:D014400 DOID:9305 MESH:D014400 SCTID:28399005 MONDO:0005967 UMLS:C0041331 ICD9:017.7" + "An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen." "MEDGEN:11949 MeSH:D014400 DOID:9305 SCTID:28399005 MESH:D014400 MONDO:0005967 UMLS:C0041331 ICD9:017.7" "A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina." "Quantification of the density of the brain." "PMID:31530798" "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene." "OMIM:600121 MEDGEN:374012 UMLS:C1838612 GARD:9682 Orphanet:309803 NANDO:1200772 DOID:0110853 MESH:C537608" @@ -56777,7 +56777,6 @@ "Status epilepticus is defined as a continuous seizure lasting more than 30 min, or two or more seizures without full recovery of consciousness between any of them." "SCTID:230456007 MedDRA:10041962 SNOMEDCT:230456007 DOID:1824 MeSH:D013226 MEDGEN:11586 NCIt:C85079 NCIT:C85079 ICD10:G41 UMLS:C0038220 MESH:D013226 MONDO:0002125" "A pathological effect of high altitude on humans, occurring when exposure to low partial pressure of oxygen, typically at high altitudes, causes hypoxia (a decrease in the amount of oxygen in the body). It commonly occurs above 2,400 metres (8,000 feet). It presents as a collection of nonspecific symptoms, resembling a case of \"flu, carbon monoxide poisoning, or a hangover\". It is hard to determine who will be affected by altitude sickness, as there are no specific factors that correlate with a susceptibility to altitude sickness. However, most people can ascend to 2,400 metres (8,000 ft) without difficulty." "ICD10:T70.2 Wikipedia:Altitude_sickness UMLS:C0002351 MedDRA:10077616 MeSH:D000532 MESH:D000532 MONDO:0006625 MEDGEN:229" - "The amount of a ornithine transcarbamylase, mitochondrial when measured in blood serum." "OMIM:607791 ICD10:G60.0" @@ -57092,7 +57091,7 @@ "Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." "MEDGEN:1842785 GARD:17538 UMLS:C5679927 Orphanet:353320" "SCTID:54336006 UMLS:C0265962 MEDGEN:78578 GARD:2967" "African green monkey kidney cell line; established from CV-1 Simian cells (cercopithecus aethiops) which were transformed by an origin-defective mutant of SV-40; cells are host cells for the propagation of pure populations of recombinant SV virus." " CLO:0050514 RRID:CVCL_0223 CLO:0002596 BTO:0001538" - "Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person." "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" + "Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person." "MEDGEN:41766 ICD9:253.8 SNOMEDCT:237722004 SCTID:237722004 NCIT:C84686 UMLS:C0014008 MESH:D004652 DOID:3642 MONDO:0006740 NCIt:C84686 MeSH:D004652 MedDRA:10014567" "The amount of a GMP reductase 1 when measured in blood serum." "The determination of the number of eosinophilic metamyelocytes in a blood sample. [ NCI ]" "UMLS:C2827509 NCIt:C84819" "OMIM:304110 MeSH:C536456 UMLS:C0220767 ICD10:Q87.1" diff --git a/src/ontology/reports/edges.tsv b/src/ontology/reports/edges.tsv index d7a4b7ed..91f2fbc8 100644 --- a/src/ontology/reports/edges.tsv +++ b/src/ontology/reports/edges.tsv @@ -1,12573 +1,12573 @@ ?x ?p ?y - - - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid326487 - - - - - - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid298483 - - - - - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid327635 - - - - - - - - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid303963 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid310190 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid309438 - - - - - - - - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid295840 - - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid275753 - - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid272550 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid275693 - - - - - 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- _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid25306 - + @@ -43404,8 +43421,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -43465,6 +43482,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid320015 @@ -43533,7 +43551,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid15834 @@ -43691,8 +43708,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -43705,7 +43722,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid286848 @@ -43738,9 +43754,9 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + - @@ -43787,7 +43803,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid26307 @@ -43814,10 +43829,10 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - - + + @@ 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_:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid318527 @@ -73922,8 +73929,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -73955,8 +73962,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -74003,6 +74010,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid285663 @@ -74037,8 +74045,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -74143,9 +74151,9 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + - @@ -74168,7 +74176,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid319671 @@ -74221,10 +74228,9 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid286228 @@ -74326,8 +74332,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -74356,7 +74362,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid321075 @@ -74392,7 +74397,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid285726 @@ -74493,9 +74497,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid320947 + @@ -74741,6 +74744,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid338184 @@ -74756,9 +74760,9 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + - @@ -74782,7 +74786,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid294758 @@ -74860,14 +74863,13 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid286809 - + @@ -74893,7 +74895,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid318871 @@ -74922,6 +74923,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid319647 @@ -74980,7 +74982,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid285817 @@ -75052,10 +75053,10 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid319031 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid352597 @@ -75124,6 +75125,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid320499 @@ -75201,10 +75203,10 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid9295 - + + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid320843 @@ -75223,10 +75225,11 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid319155 @@ -75291,8 +75294,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -75326,6 +75329,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid320559 @@ -75336,16 +75340,14 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid287488 + - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid293546 @@ -75433,6 +75435,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid318935 @@ -75540,7 +75543,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid320679 @@ -75637,7 +75639,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid320595 @@ -75722,7 +75723,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid320039 @@ -76021,10 +76021,10 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + - - + @@ -76088,7 +76088,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid319379 @@ -76142,7 +76141,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid297738 @@ -76181,6 +76179,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid318923 @@ -76230,11 +76229,9 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid319815 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid13316 @@ -76264,7 +76261,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid319707 @@ -76317,6 +76313,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid320743 @@ -76337,7 +76334,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid319403 @@ -76405,8 +76401,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -76510,8 +76506,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -76589,6 +76585,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid337557 @@ -76621,8 +76618,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -76637,6 +76634,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid286848 @@ -76652,7 +76650,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid319027 @@ -76727,7 +76724,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid320311 @@ -76821,6 +76817,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid310035 @@ -76857,7 +76854,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid318623 @@ -76892,6 +76888,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid319743 @@ -76924,6 +76921,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid24885 @@ -76935,8 +76933,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -76944,8 +76942,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -76962,7 +76960,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid319211 @@ -77044,8 +77041,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -77056,12 +77053,11 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid320991 @@ -77069,8 +77065,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -77134,8 +77130,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -77207,7 +77203,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid320407 @@ -77235,6 +77230,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid320907 @@ -77243,10 +77239,10 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -77271,6 +77267,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid25781 @@ -77297,12 +77294,10 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid24594 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid321015 @@ -77346,6 +77341,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid321331 @@ -77390,6 +77386,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid320395 @@ -77438,9 +77435,9 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -77557,7 +77554,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid319911 @@ -77566,7 +77562,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid319991 @@ -77594,6 +77589,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid319939 @@ -77643,8 +77639,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -77715,13 +77711,14 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid289296 - + @@ -77769,8 +77766,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -77797,7 +77794,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid319951 @@ -77836,7 +77832,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid320583 @@ -77876,8 +77871,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -77910,8 +77905,8 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + @@ -77946,18 +77941,18 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + - + - + @@ -78052,7 +78047,9 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid288060 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid24594 @@ -78099,7 +78096,6 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid318483 @@ -78138,15 +78134,14 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + - _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid320499 @@ -78214,9 +78209,10 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 - + + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid318743 @@ -78243,6 +78239,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid286809 @@ -78254,6 +78251,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid319491 @@ -78350,6 +78348,7 @@ _:B28ff4153X2DfcfcX2D4879X2D976aX2D9bf83990472cgenid354233 + _:B5b620e03X2D7d7cX2D47c8X2D97e1X2D629525cb01fdgenid286164 diff --git a/src/ontology/reports/obsolete_gwas.tsv b/src/ontology/reports/obsolete_gwas.tsv index 5faa4750..2ee6ba53 100644 --- a/src/ontology/reports/obsolete_gwas.tsv +++ b/src/ontology/reports/obsolete_gwas.tsv @@ -10,6 +10,7 @@ "http://purl.obolibrary.org/obo/MONDO_0005041" "http://purl.obolibrary.org/obo/MONDO_0005184" "http://purl.obolibrary.org/obo/MONDO_0007915" + "http://purl.obolibrary.org/obo/MONDO_0002009" "http://purl.obolibrary.org/obo/GO_0042697" "http://purl.obolibrary.org/obo/MONDO_0005351" "http://purl.obolibrary.org/obo/GO_0007623" diff --git a/src/ontology/reports/obsoletes.tsv b/src/ontology/reports/obsoletes.tsv index 55b1f5dc..5fd4f8d9 100644 --- a/src/ontology/reports/obsoletes.tsv +++ b/src/ontology/reports/obsoletes.tsv @@ -1905,6 +1905,7 @@ "http://purl.obolibrary.org/obo/UBERON_0002048" "http://purl.obolibrary.org/obo/UBERON_0002048" "http://purl.obolibrary.org/obo/UBERON_0002048" + "http://purl.obolibrary.org/obo/MONDO_0002009" "http://purl.obolibrary.org/obo/HP_0002027" "http://purl.obolibrary.org/obo/UBERON_0007808" "http://purl.obolibrary.org/obo/UBERON_6007435" diff --git a/src/ontology/reports/synonyms.tsv b/src/ontology/reports/synonyms.tsv index 07d8f512..0e65400e 100644 --- a/src/ontology/reports/synonyms.tsv +++ b/src/ontology/reports/synonyms.tsv @@ -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" @@ -43,8 +43,8 @@ "obsolete_Kniest dysplasia" "poly(A) polymerase gamma" "AKR/J" - "NEDD8-activating enzyme E1 regulatory subunit" "level of phosphoserine phosphatase in blood serum" + "NEDD8-activating enzyme E1 regulatory subunit" "1,6-anhydroglucose measurement" "Episodic flaccid weakness" "obsolete_Potocki-Shaffer syndrome" @@ -58,9 +58,9 @@ "age at initiation of cannabis use"@en "Exercise-induced muscle stiffness" "benign neoplasm of gallbladder" + "L-Cysteine measurement" "endocardium cancer" "obsolete non-dystrophic myopathy" - "L-Cysteine measurement" "obsolete_antibiotic" "Bladder Adenocarcinoma" "Cleft palate - stapes fixation - oligodontia" @@ -92,9 +92,9 @@ "Basal epidermolysis bullosa simplex" "non-acquired combined pituitary hormone deficiency" "nemaline myopathy 9" - "Congenital disorder of glycosylation with developmental anomaly" "level of chitinase-3-like protein 1 in blood serum" "obsolete_pharynx" + "Congenital disorder of glycosylation with developmental anomaly" "Carcinus maenas" "splicing factor ESS-2 homolog" "communicating hydrocephalus" @@ -192,8 +192,8 @@ "pneumoviridae virus seropositivity" "familial hypoaldosteronism" "obsolete_Familial dementia, Danish type" - "obsolete_behavioural disease" "eicosenoylcarnitine (C20:1) measurement" + "obsolete_behavioural disease" "diphyllobothriasis" "wine liking measurement" "Parasteatoda tepidariorum" @@ -202,8 +202,8 @@ "level of endophilin-B2 in blood serum" "desmoid tumor caused by somatic mutation" "protocadherin-9 measurement" - "temporal lobe volume measurement" "Hyperconvex toenail" + "temporal lobe volume measurement" "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" - "obsolete_ADULT syndrome" "retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies" + "obsolete_ADULT syndrome" "obsolete_Renpenning syndrome" "CS57660" "temporal pole volume measurement"@en @@ -262,9 +262,9 @@ "Calypte anna" "focal genome amplification" "dorsal closure stage" + "Parotid Gland Carcinoma ex Pleomorphic Adenoma" "autosomal dominant ichthyosis vulgaris" "huntingtin-interacting protein K" - "Parotid Gland Carcinoma ex Pleomorphic Adenoma" "liver enzyme measurement" "X-14086 measurement" "Theiler stage 23" @@ -331,8 +331,8 @@ "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations" "obsolete_digitotalar dysmorphism" "retroperitoneum carcinoma" - "tRNA-specific adenosine deaminase 1" "Ras-related protein Rab-22A" + "tRNA-specific adenosine deaminase 1" "Long philtrum" "X-12193 measurement" "level of probable transmembrane reductase CYB561D1 in blood serum" @@ -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" @@ -601,9 +601,9 @@ "SSR4-congenital disorder of glycosylation" "viral infectious disease, non-human animal" "CXCL11 measurement" + "saccharin measurement" "pathologic process"@en "pathological process" - "saccharin measurement" "level of protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha in blood serum" "adult choroid plexus neoplasm" "epigenetic factor" @@ -634,10 +634,10 @@ "G0/G1 switch protein 2 measurement" "proteasome-associated autoinflammatory syndrome 4" "obsolete_monosomy 9q22.3" - "obsolete_osteogenesis imperfecta type 3" "obsolete_metacarpal bone" - "obsolete_spinocerebellar ataxia type 20" + "obsolete_osteogenesis imperfecta type 3" "larval day 5" + "obsolete_spinocerebellar ataxia type 20" "mean corpuscular hemoglobin concentration" "1-palmityl-2-palmitoyl-GPC (O-16:0/16:0) measurement" "WW6" @@ -760,9 +760,9 @@ "level of ceramide" "X-11372 measurement" "level of myeloid leukemia factor 1 in blood serum" + "mesenchymal hamartoma" "mood disorder" "PDZ and LIM domain protein 4" - "mesenchymal hamartoma" "Drosophila melanogaster cell line" "obsolete_progressive non-fluent aphasia" "corpus callosum posterior volume measurement"@en @@ -805,8 +805,8 @@ "myo-inositol" "level of vesicle-associated membrane protein 1 in blood serum" "Pilomatrixoma" - "potassium dichromate" "GM17787" + "potassium dichromate" "Chronic tubulointerstitial nephritis" "emphysema" "Hyperventilation" @@ -894,9 +894,9 @@ "leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 measurement" "hereditary motor neuron disease" "linoleic acid change measurement" - "Parotid Gland Pleomorphic Adenoma" "mandibuloacral dysplasia" "neuregulin-4 measurement" + "Parotid Gland Pleomorphic Adenoma" "level of endothelin-converting enzyme-like 1 in blood serum" "Exercise intolerance with lactic acidosis" "Uk-1" @@ -1026,16 +1026,16 @@ "development or differentiation design" "Gynatresia" "VACTERL/vater association" + "obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy" "x-linked warfarin sensitivity"@en "talin-2 measurement" "tRNA-specific adenosine deaminase 2" - "obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy" "level of IgG receptor FcRn large subunit p51 in blood serum" "Actinobacillus pleuropneumoniae serovar 1 str. 4074" "short stature due to growth hormone qualitative anomaly" + "Genetic syndrome with limb reduction defects" "dermatopathia pigmentosa reticularis" "receptor-binding cancer antigen expressed on SiSo cells" - "Genetic syndrome with limb reduction defects" "FAD-linked sulfhydryl oxidase ALR" "3,3',4,4'-tetrachlorobiphenyl" "obsolete_familial dilated cardiomyopathy" @@ -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" @@ -1076,11 +1076,11 @@ "respiratory quotient" "obsolete_Kallmann syndrome" "interleukin (Homo sapiens)" - "sialidosis type II" "obsolete_congenital genu recurvatum" "GM17116" "aceruloplasminemia" "SPLiT-seq" + "sialidosis type II" "chilblain lupus 1" "ichthyosis-cheek-eyebrow syndrome" "lacrimal gland" @@ -1088,8 +1088,8 @@ "isolated focal cortical dysplasia type I" "Somatic sensory dysfunction" "obsolete_hyperinsulinism due to HNF1A deficiency" - "beta-defensin 118 measurement" "Nidovirales infectious disease" + "beta-defensin 118 measurement" "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1" "obsolete_cystinuria type B" "Arterial thrombosis" @@ -1147,8 +1147,8 @@ "(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity" "Syndactyly - telecanthus - anogenital and renal malformations" "serum clozapine-to-N-desmethylclozapine ratio measurement" - "Anguilla anguilla" "tag based single nucleus RNA sequencing" + "Anguilla anguilla" "nephropathy - deafness - hyperparathyroidism syndrome" "Slow decrease in visual acuity" "pancreatic ductal cell" @@ -1162,8 +1162,8 @@ "butyrophilin-like protein 9" "Cerebroretinal vasculopathy" "peptide chain release factor 1-like, mitochondrial measurement" - "ventral diencephalon volume measurement"@en "obsolete_floor plate rhombomere 8" + "ventral diencephalon volume measurement"@en "adolescent idiopathic scoliosis" "RING finger protein 215 measurement" "endophilin-A1" @@ -1200,9 +1200,9 @@ "L-Ornithine measurement" "ocular onchocerciasis" "obsolete_partial deletion of chromosome 20" + "Amaurosis - hypertrichosis" "beta-defensin 123 measurement" "autoimmune polyendocrine syndrome type 1" - "Amaurosis - hypertrichosis" "level of 1-(1Z-hexadecenyl)-sn-glycero-3-phosphocholine in blood" "encephalocraniocutaneous lipomatosis" "Hyperlipidemia" @@ -1251,8 +1251,8 @@ "obsolete_response to hydrochlorothiazide" "tibial nerve" "juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome" - "obsolete_defect in V-ATPase" "level of TBC1 domain family member 5 in blood serum" + "obsolete_defect in V-ATPase" "neuronal regeneration-related protein" "nevirapine" "4-chlorobenzoic acid measurement" @@ -1326,11 +1326,11 @@ "latissimus dorsi" "cryopyrin-associated periodic syndrome" "heterotaxy, visceral, 5, autosomal" - "patched domain-containing protein 3" + "obsolete_non-distal trisomy 13q" "potassium voltage-gated channel subfamily F member 1 measurement" - "X-11374 measurement" + "patched domain-containing protein 3" "cholesterol esters in large HDL measurement" - "obsolete_non-distal trisomy 13q" + "X-11374 measurement" "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" @@ -1423,8 +1423,8 @@ "cadmium dichloride hemipentahydrate" "imatinib methanesulfonate" "xeroderma pigmentosum group B" - "paternal uniparental disomy of chromosome 14" "RNA-seq of non coding RNA" + "paternal uniparental disomy of chromosome 14" "interleukin-8 measurement" "X-11378 measurement" "male infertility" @@ -1467,8 +1467,8 @@ "ADP-ribosylation factor 1" "level of glycine N-acyltransferase in blood serum" "obsolete_childhood-onset nemaline myopathy" - "level of telomeric repeat-binding factor 1 in blood serum" "absent or delayed speech development" + "level of telomeric repeat-binding factor 1 in blood serum" "level of vesicle-associated membrane protein 2 in blood serum" "HOMA-B" "GM17785" @@ -1578,8 +1578,8 @@ "8q22.1 microdeletion syndrome" "ILSXISS122/TejJ" "L-Glutamic acid measurement" - "hypocalcemic rickets" "Bladder Inflammatory Myofibroblastic Tumor" + "hypocalcemic rickets" "level of P2X purinoceptor 6 in blood serum" "level of endosome/lysosome-associated apoptosis and autophagy regulator family member 2 in blood serum" "PDZ domain-containing protein 11" @@ -1600,8 +1600,8 @@ "Gadus morhua" "endogenous retrovirus group V member 1 Env polyprotein" "microliter per liter" - "obsolete_spinocerebellar ataxia type 5" "obsolete_autosomal recessive Alport syndrome" + "obsolete_spinocerebellar ataxia type 5" "obsolete_response to bleomycin" "combined oxidative phosphorylation deficiency 45" "obsolete_choroideremia" @@ -1656,8 +1656,8 @@ "left ventricular hypertrophy" "self-reported trait" "ovarian biphasic or triphasic teratoma" - "interleukin-12 receptor subunit beta-2 measurement" "4-hydroxy-3-methylacetophenone" + "interleukin-12 receptor subunit beta-2 measurement" "amyloid beta A4 protein measurement" "eosinophil count" "opioid use disorder"@en @@ -1697,13 +1697,13 @@ "age of onset of amyotrophic lateral sclerosis" "Lactobacillus rossiae" "3-Indolepropionic acid to Cyclic AMP ratio" - "pentraxin-related protein PTX3 measurement" "Joubert syndrome with ocular defect" + "pentraxin-related protein PTX3 measurement" "Zoster Sine Herpete" "trait in response to trametinib" - "chitinase domain-containing protein 1" "Cannabis sativa" "level of guanylate-binding protein 1 in blood serum" + "chitinase domain-containing protein 1" "tacrolimus hydrate" "hearing loss, autosomal recessive 119" "level of NADP-dependent malic enzyme in blood serum" @@ -1713,16 +1713,16 @@ "mal de Meleda" "autosomal dominant hypocalcemia" "MYH7-related skeletal myopathy" - "Monoamine oxidase A deficiency" - "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" "hypotrichosis 4" "vocal organ" - "1-myristoylglycerophosphocholine measurement" "Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy" + "1-myristoylglycerophosphocholine measurement" "level of 1-stearoyl-sn-glycero-3-phosphocholine in blood" "pterin-4-alpha-carbinolamine dehydratase 2 measurement" "pepsinogen I/II ratio" @@ -1730,9 +1730,9 @@ "lysosome" "X-25790 measurement" "level of protein FAM229A in blood serum" - "Spondylocostal dysostosis - hypospadias - intellectual disability" "Hammer Toe Syndrome" "GM17259" + "Spondylocostal dysostosis - hypospadias - intellectual disability" "tapasin measurement" "3C" "maxillary sinus squamous cell carcinoma" @@ -1744,8 +1744,8 @@ "Tooth abscess" "high myopia-sensorineural deafness syndrome" "obsolete_hypopharyngeal sense organ primordium" - "endocrine pancreas disorder" "histone H2B type 2-E measurement" + "endocrine pancreas disorder" "isolated focal cortical dysplasia type Ia" "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2" "Cataplexy" @@ -1786,9 +1786,9 @@ "calcipressin-1 measurement" "tonsil neoplasm" "Autosomal dominant microcephaly" - "Illumina NextSeq 550" "ichthyosis, lamellar, autosomal dominant" "mitochondrial glycine transporter" + "Illumina NextSeq 550" "hypopigmentation, organomegaly, and delayed myelination and development" "grade III glioma" "tarsal gland" @@ -1817,9 +1817,9 @@ "serum N-desmethylclozapine measurement" "ephrin type-a receptor 5 measurement" "adhesion G protein-coupled receptor L3" + "obsolete_isochromosomy Yp" "stroma of bone marrow" "3-aminoisobutyrate" - "obsolete_isochromosomy Yp" "dual specificity protein phosphatase 26" "enlarged vestibular aqueduct syndrome" "developmental and epileptic encephalopathy, 88" @@ -1928,8 +1928,8 @@ "pancreas volume" "disorder of galactose metabolism" "C-Cell Hyperplasia" - "level of norrin in blood serum" "plasma beta-amyloid 1-40 measurement" + "level of norrin in blood serum" "ND00397" "coronary heart disease, susceptibility to, 2" "N(5)-ethyl-L-glutamine" @@ -1994,11 +1994,11 @@ "X-11381 measurement" "integrin beta-6" "obsolete_mosaic trisomy 14" - "adenosine 3'-phospho 5'-phosphosulfate transporter 2 measurement" "methanethiol oxidase activity" "level of defensin beta 4A in blood serum" - "glucose-to-mannose ratio" + "adenosine 3'-phospho 5'-phosphosulfate transporter 2 measurement" "DnaJ homolog subfamily C member 15" + "glucose-to-mannose ratio" "isolated Dandy-Walker malformation without hydrocephalus" "putamen measurement" "hindgut proper primordium" @@ -2030,8 +2030,8 @@ "obsolete_short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome" "Concave nasal ridge" "level of armadillo repeat-containing protein 8 in blood serum" - "Drowsiness" "obsolete_large intestine" + "Drowsiness" "vacuole" "alopecia antibody deficiency" "level of 1-(1Z-hexadecenyl)-2-linoleoyl-sn-glycero-3-phosphoethanolamine in blood" @@ -2047,11 +2047,11 @@ "non-acquired combined pituitary hormone deficiency with spine abnormalities" "obsolete_Xq27.3q28 duplication syndrome" "septin-1" + "ST segment duration"@en "sphingomyelin 16:0 measurement"@en "mushroom body primordium" - "ST segment duration"@en - "abdominal cavity" "fructose measurement"@en + "abdominal cavity" "level of Sterol ester (27:1/18:0) in blood serum" "level of glutathione S-transferase mu 5 in blood serum" "Delayed eruption of primary teeth" @@ -2166,8 +2166,8 @@ "Schizosaccharomyces pombe" "protein array" "IgG/IgA pemphigus" - "permethrin" "level of beta-galactoside alpha-2,6-sialyltransferase 2 in blood serum" + "permethrin" "anti-human polyomavirus 6 antibody measurement" "neuropilin and tolloid-like protein 2 measurement" "level of serine hydroxymethyltransferase, cytosolic in blood serum" @@ -2176,9 +2176,9 @@ "protein S100-A11 measurement" "obsolete_Primary immunodeficiency" "Liver Neuroendocrine Tumor" - "Stickler syndrom, recessive"@en - "langerin-positive dermal dendritic cell" "obsolete_aromatic L-amino acid decarboxylase deficiency" + "langerin-positive dermal dendritic cell" + "Stickler syndrom, recessive"@en "level of testin in blood serum" "alloxanthine" "sodium/potassium-transporting ATPase subunit beta-2 measurement" @@ -2214,18 +2214,18 @@ "Sleep abnormality" "Lactobacillus plantarum WCFS1" "chronic liver failure" - "obsolete_split hand, bilateral" "Hypoglycemia" "level of caveolin-3 in blood serum" "protein FAM9B" + "obsolete_split hand, bilateral" "IgG sialylation measurement" "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" @@ -2245,11 +2245,11 @@ "leukocyte cell-derived chemotaxin 1 measurement" "obsolete_AICA-ribosiduria" "illuminance unit" - "TruDrop" "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" - "lymphoma or leukaemia cell line" "Wernicke encephalopathy" + "lymphoma or leukaemia cell line" "2-nitrotoluene" "UPF0561 protein C2orf68" "Paramecium bursaria Chlorella virus 1" @@ -2449,11 +2449,11 @@ "obsolete_congenital absence/hypoplasia of fingers excluding thumb, bilateral" "C4-OH carnitine measurement" "level of TOM1-like protein 2 in blood serum" - "UM-UC-1" "isolated focal cortical dysplasia type Ib" "mesenchyme derived from head neural crest" - "Prader-Willi syndrome due to translocation" "gamma-linolenate" + "UM-UC-1" + "Prader-Willi syndrome due to translocation" "joule per square meter" "thyroid lymphoma" "level of histidyl-tRNA synthetase, cytoplasmic in blood serum" @@ -2480,8 +2480,8 @@ "obsolete_Mobius syndrome" "Leber congenital amaurosis 10" "Immunodeficiency due to absence of thymus" - "blood cell (sensu Nematoda and Protostomia)" "calcyclin-binding protein measurement" + "blood cell (sensu Nematoda and Protostomia)" "Mitchell syndrome" "level of heparan sulfate glucosamine 3-O-sulfotransferase 1 in blood serum" "interleukin 17 receptor A measurement" @@ -2519,8 +2519,8 @@ "obsolete abdominal and pelvic region disorder" "kidney volume" "ephrin type-b receptor 4 measurement" - "kidney" "disease characteristic" + "kidney" "CD4-positive, alpha-beta memory T cell" "obsolete_arthrogryposis-like syndrome" "X-12283 measurement" @@ -2629,13 +2629,13 @@ "bulimia nervosa" "bis(5'-adenosyl)-triphosphatase" "mixed testicular germ cell cancer" + "obsolete_congenital deformities of fingers" "MAB-seq" "obsolete_fluid shear stress" - "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" @@ -2688,21 +2688,21 @@ "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" "orotate" "larval day 21-29" "triglycerides to total lipids in small VLDL percentage " + "X-11538 measurement" "KP-3" "level of ribosomal protein S6 kinase alpha-6 in blood serum" "BCL-2-like protein 1 measurement" "reticulon-1" "mitotic checkpoint serine/threonine-protein kinase BUB1" - "X-11538 measurement" "methadone dose measurement" "obsolete_infiltrating ductal carcinoma" "MED12-related intellectual disability syndrome" @@ -2732,8 +2732,8 @@ "IMR-5" "sebacate (C10-DC) measurement" "Familial advanced sleep-phase syndrome" - "obsolete_X-linked dominant chondrodysplasia, Chassaing-Lacombe type" "TGF-beta receptor type-1" + "obsolete_X-linked dominant chondrodysplasia, Chassaing-Lacombe type" "Atkin-Flaitz syndrome" "obsolete_congenital bilateral absence of the vas deferens" "X-13723 measurement" @@ -2766,8 +2766,8 @@ "obsolete_Dianzani autoimmune lymphoproliferative disease" "Streptococcus pneumoniae TIGR4" "obsolete_anorectal malformation" - "obsolete_pure mitochondrial myopathy" "v-set and transmembrane domain-containing protein 2-like protein measurement" + "obsolete_pure mitochondrial myopathy" "fructose-1-phosphate measurement"@en "level of glutathione S-transferase omega-1 in blood serum" "benign mesenchymoma" @@ -2843,8 +2843,8 @@ "obsolete_Usher syndrome" "obsolete_mucopolysaccharidosis type 4A" "autoimmune encephalitis" - "corneal hysteresis" "Distal hereditary motor neuropathy type 5" + "corneal hysteresis" "leukocyte cell-derived chemotaxin-2" "bird disease" "level of SUN domain-containing protein 3 in blood serum" @@ -2869,9 +2869,9 @@ "erythroleukemia, familial, susceptibility to" "villous adenoma" "lactosyl-N-behenoyl-sphingosine (d18:1/22:0) measurement" - "glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic" "level of adipocyte adhesion molecule in blood serum" "microtubule-associated protein RP/EB family member 3" + "glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic" "Perimeningeal Infections" "Ataxia - hypogonadism - choroidal dystrophy" "hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome" @@ -2880,25 +2880,25 @@ "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" - "huH-1" + "obsolete_Wilson disease" "forkhead box protein C2" - "level of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 in blood serum" + "huH-1" "ubiquitin carboxyl-terminal hydrolase 2" + "level of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 in blood serum" "vasoactive intestinal peptide measurement" "response to stimulant therapy" "level of intraflagellar transport protein 20 in blood serum" "pregnancy associated osteoporosis" "Lake Victoria marburgvirus - Angola2005" "protein S100-A13 measurement" - "Ptosis - syndactyly - learning difficulties" "cancer or benign tumor" + "Ptosis - syndactyly - learning difficulties" "ADULT syndrome" "versican core protein measurement" "Lobular Breast Carcinoma In Situ" @@ -2926,8 +2926,8 @@ "TAIL-seq" "bilirubin transport" "obsolete_disorder of phospholipids, sphingolipids and fatty acids biosynthesis" - "GEXSCOPE technology" "level of CB1 cannabinoid receptor-interacting protein 1 in blood serum" + "GEXSCOPE technology" "obsolete_lateral mesenchyme derived from mesoderm" "beta-enolase" "paroxysmal tachycardia" @@ -3051,12 +3051,12 @@ "adult T acute lymphoblastic leukemia" "classic lissencephaly" "ceramide synthase 5" + "X-linked intellectual disability, Gu type" "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" - "X-linked intellectual disability, Gu type" "Abnormal caudate nucleus morphology" "level of SH3 and multiple ankyrin repeat domains protein 3 in blood serum" "Streptomyces clavuligerus" @@ -3072,10 +3072,10 @@ "antimycin A" "Fc-epsilon RIalpha-low mast cell progenitor" "multicentric carpo-tarsal osteolysis with or without nephropathy" - "histone H3.1 measurement" "anal carcinoma" - "obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease" + "histone H3.1 measurement" "arrhythmogenic right ventricular cardiomyopathy" + "obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease" "cyproheptadine hydrochloride (anhydrous)" "renal efferent arteriole" "necrotizing enterocolitis" @@ -3083,8 +3083,8 @@ "Disorder of purine metabolism" "dorsal root ganglion" "obsolete_isolated oxidative phosphorylation complex disorder" - "level of NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial in blood serum" "proline-rich protein 15" + "level of NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial in blood serum" "activating signal cointegrator 1 complex subunit 2" "obsolete_symphalangism with multiple anomalies of hands and feet" "benzoate" @@ -3197,15 +3197,15 @@ "Constitutional megaloblastic anemia due to folate metabolism disorder" "obsolete_17p11.2 microduplication syndrome" "(S)-(-)-2-Hydroxyisocaproic acid measurement" - "duodenum" "number of children fathered measurement" + "duodenum" "innate behavior design" "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" @@ -3240,18 +3240,18 @@ "villin-like protein" "Illumina Genome Analyzer standard manufacturer's protocol" "Dermatochalasis" - "1-oleoylglycerophosphoethanolamine measurement" "obsolete_motor stereotypies" - "level of cadherin-4 in blood serum" + "1-oleoylglycerophosphoethanolamine measurement" "X-linked spastic paraplegia type 16" + "level of cadherin-4 in blood serum" "level of EF-hand domain-containing protein D1 in blood serum" "beta-hexosaminidase subunit beta" "X-25802 measurement" "obsolete_Hearing Loss, Noise-Induced" "level of visual system homeobox 1 in blood serum" - "obsolete_autosomal dominant intermediate Charcot-Marie-Tooth disease" "phosphatidylcholine 36:0 measurement" "MIA Paca-2" + "obsolete_autosomal dominant intermediate Charcot-Marie-Tooth disease" "cAMP-dependent protein kinase type I-beta regulatory subunit measurement" "interleukin-1 beta (Homo sapiens)" "glutamine metabolic process" @@ -3302,9 +3302,9 @@ "Microcephaly - cardiac defect - lung malsegmentation" "fibronectin type III domain-containing protein 4 measurement" "peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 measurement" + "Sleep Disorder" "glutamate decarboxylase 1" "monocyte-derived intermediate cell" - "Sleep Disorder" "vulval varices" "chromosome 17q21.31 duplication syndrome" "tetradecadienylcarnitine" @@ -3358,10 +3358,10 @@ "ventricular enlargement measurement"@en "diglyceride measurement"@en "familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome" + "Rectal Tubular Adenoma" "4-acetamidobenzoate measurement" "pathogenicity" "level of proline-rich AKT1 substrate 1 in blood serum" - "Rectal Tubular Adenoma" "cardiovascular disease" "Abnormal electroretinogram" "cyclic AMP-responsive element-binding protein 3-like protein 4" @@ -3421,13 +3421,13 @@ "X-linked progressive cerebellar ataxia" "obsolete inherited ichthyosis syndromic form" "level of Sterol ester (27:1/20:4) in blood serum" - "obsolete_partial duplication of chromosome 1" "etoposide" "Native Hawaiian" "myofibromatosis, infantile, 1" "auditory hair cell" "level of ATP-dependent RNA helicase A in blood serum" "epididymal-specific lipocalin-10" + "obsolete_partial duplication of chromosome 1" "HET-1A" "microcephaly 1, primary, autosomal recessive" "eccrine acrospiroma" @@ -3482,8 +3482,8 @@ "methylmalonic acidemia" "Tolchin-Le Caignec syndrome" "dual 3';5'-cyclic-AMP and -GMP phosphodiesterase 11A measurement" - "generalized galactose epimerase deficiency" "Familial esophageal achalasia" + "generalized galactose epimerase deficiency" "Calcifying Nested Epithelial Stromal Tumor of the Liver" "nucleoside diphosphate kinase B measurement" "level of ubiquitin-conjugating enzyme E2 R2 in blood serum" @@ -3502,8 +3502,8 @@ "benign neoplasm of ciliary body" "obsolete_total spina bifida cystica" "obsolete_persistent hyperplastic primary vitreous" - "obsolete_lateral cord glia" "tooth agenesis, selective, 7" + "obsolete_lateral cord glia" "thrombophilia" "lobular capilliary hemangioma"@en "ferulylglycine (1) measurement" @@ -3546,9 +3546,9 @@ "hydrocephalus, congenital, 3, with brain anomalies" "ethanolamine kinase 1" "Multiple sclerosis - ichthyosis - factor VIII deficiency" - "corneal resistance factor" "phosphotriesterase-related protein" "tiling array" + "corneal resistance factor" "drug-induced pemphigus" "level of sorting nexin-5 in blood serum" "R9" @@ -3566,9 +3566,9 @@ "uncharacterized protein C1orf226 (human)" "Low Grade Central Osteosarcoma" "bone neoplasm" - "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations" "obsolete_distal monosomy 7p" "glial brain cell" + "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations" "Cribriform Carcinoma" "xanthomonas seropositivity" "obsolete patellar dysostosis" @@ -3611,10 +3611,10 @@ "Syndrome associated with dilated cardiomyopathy" "obsolete_split foot, unilateral" "vesicle transport protein USE1 measurement" - "pontocerebellar hypoplasia type 2A" "fructose-6-phosphate measurement"@en - "histone deacetylase 6" + "pontocerebellar hypoplasia type 2A" "level of glutathione S-transferase theta-1 in blood serum" + "histone deacetylase 6" "complement C4b measurement" "von Willebrand disease type 2A" "aldicarb" @@ -3630,12 +3630,12 @@ "Bile acid synthesis defect with cholestasis and malabsorption" "Macroptilium atropurpureum" "dematin" - "obsolete_isolated congenital ectropion" - "Anonychia - onychodystrophy" "carboxypeptidase D" + "obsolete_isolated congenital ectropion" "S2" "agnosia" "level of triglyceride in blood serum" + "Anonychia - onychodystrophy" "diacylglycerol 36:4 measurement" "TAmC-Seq" "inferior colliculus" @@ -3654,8 +3654,8 @@ "COLO 792" "Abnormal circulating lipid concentration" "Juvenile Osteochondrosis" - "obsolete_sepsis" "inclusion body myositis" + "obsolete_sepsis" "major salivary gland" "level of coiled-coil domain-containing protein 24 in blood serum" "androstenediol (3beta,17beta) disulfate (1) measurement" @@ -3781,8 +3781,8 @@ "Cerebro-facio-thoracic dysplasia" "organismal segment" "burning mouth syndrome" - "MAP kinase-activated protein kinase 5 measurement" "skeletal muscle myoblast" + "MAP kinase-activated protein kinase 5 measurement" "Ly6/PLAUR domain-containing protein 1" "level of cytochrome c oxidase subunit 4 isoform 2, mitochondrial in blood serum" "cell cycle process" @@ -3800,8 +3800,8 @@ "Penile Fibromatosis" "Disorder of pyridoxine metabolism" "eicosenoate (20:1) measurement" - "obsolete_autosomal recessive spastic paraplegia type 66" "protein Largen" + "obsolete_autosomal recessive spastic paraplegia type 66" "level of NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial in blood serum" "somite 4" "2-hydroxyhexadecanoate" @@ -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" @@ -3883,8 +3883,8 @@ "adamantinoma" "mouse cell line" "Hepatitis B virus core antigen seropositivity" - "D-Mannose measurement" "obsolete_homocystinuria without methylmalonic aciduria" + "D-Mannose measurement" "indometacin" "autosomal dominant osteopetrosis" "Adermatoglyphia" @@ -3994,13 +3994,13 @@ "vasopressin secretion" "immunoglobulin superfamily DCC subclass member 3 measurement" "palmitoyl-linoleoyl-glycerol (16:0/18:2) [1] measurement" + "facial dysmorphism-immunodeficiency-livedo-short stature syndrome" "obsolete_Ruvalcaba syndrome" "oxoadipic acid measurement" + "cyclin-H" + "hypervalinemia and hyperleucine-isoleucinemia" "Bell's palsy" - "facial dysmorphism-immunodeficiency-livedo-short stature syndrome" "Anterior synechiae of the anterior chamber" - "hypervalinemia and hyperleucine-isoleucinemia" - "cyclin-H" "phospholipase A and acyltransferase 3" "phospholipase B-like 1 measurement" "obsolete_multiple endocrine neoplasia type 2A" @@ -4105,8 +4105,8 @@ "beta-defensin 136 measurement" "sodium butyrate" "receptor-type tyrosine-protein phosphatase-like N" - "paroxetine" "adrenaline" + "paroxetine" "Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair" "computed tomography" "thymus primordium" @@ -4133,8 +4133,8 @@ "hereditary spastic paraplegia 74" "pharyngotympanic tube" "obsolete_Isolated Pierre Robin syndrome" - "Japanese encephalitis" "Severe global developmental delay" + "Japanese encephalitis" "Fanconi anemia, complementation group W" "neoplastic syndrome" "level of protein transport protein Sec61 subunit gamma in blood serum" @@ -4295,10 +4295,10 @@ "Spastic ataxia - corneal dystrophy" "obsolete_congenital entropion" "triacylglycerol 56:7 measurement"@en + "retinal detachment" "Bufo marinus" "obsolete_brachiocephalic artery" "anthranilic acid" - "retinal detachment" "follicular B cell" "interleukin 10 measurement" "tumor necrosis factor receptor superfamily member 6 measurement"@en @@ -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" @@ -4360,9 +4360,9 @@ "CACNA1A-related complex neurodevelopmental disorder" "obsolete_Isolated Dandy-Walker malformation" "Acro-oto-ocular syndrome" + "Brachydactyly - mesomelia - intellectual disability - heart defects" "alpha macroglobulin measurement" "bacteriodes phage virus seropositivity" - "Brachydactyly - mesomelia - intellectual disability - heart defects" "Bilateral microphthalmos" "obsolete_infantile convulsions and choreoathetosis" "protein crumbs homolog 1 measurement" @@ -4389,8 +4389,8 @@ "HiTS-Flip" "Perrault syndrome 1" "age of onset of myopia" - "GM17811" "obsolete_X-linked neurodegenerative syndrome, Bertini type" + "GM17811" "obsolete_sclerosteosis" "S-adenosylhomocysteine hydrolase-like protein 1" "pregnancy-specific beta-1-glycoprotein 2 measurement" @@ -4412,8 +4412,8 @@ "central retinal vein" "non-typhoidal Salmonella bacteremia" "blastic plasmacytoid dendritic cell neoplasm" - "obsolete_lethal occipital encephalocele-skeletal dysplasia syndrome" "developmental and epileptic encephalopathy 97" + "obsolete_lethal occipital encephalocele-skeletal dysplasia syndrome" "gliosarcoma" "Cutaneous Follicular Lymphoma" "non-syndromic limb reduction defect" @@ -4427,8 +4427,8 @@ "combined low LDL and fibrinogen" "Aspergillus fumigatus" "obsolete_pectoral fin skeleton" - "level of coiled-coil domain-containing protein 90B, mitochondrial in blood serum" "2-palmitoylglycerophosphocholine measurement" + "level of coiled-coil domain-containing protein 90B, mitochondrial in blood serum" "myopathy, distal, 7, adult-onset, X-linked" "heat shock-related 70 kDa protein 2" "syndromic X-linked intellectual disability Siderius type" @@ -4648,8 +4648,8 @@ "pneumococcal infection" "glucitol" "transmembrane protein 41B measurement" - "coiled-coil domain-containing protein 25" "high-level copy number loss"@en + "coiled-coil domain-containing protein 25" "nucleotide metabolic process" "acisoga measurement" "Saccharomyces paradoxus NRRL Y-17217" @@ -4752,9 +4752,9 @@ "Polyneuropathy - hand defect" "obsolete_X-linked Emery-Dreifuss muscular dystrophy" "Hypertelorism - hypospadias - polysyndactyly syndrome" - "Hereditary proximal myopathy with early respiratory failure" "Müllerian derivatives - lymphangiectasia - polydactyly" "autosomal recessive osteopetrosis 2" + "Hereditary proximal myopathy with early respiratory failure" "level of polyadenylate-binding protein 5 in blood serum" "thyroid hormone receptor alpha measurement" "Hs 695T" @@ -4789,12 +4789,12 @@ "Eukaryota" "RNA-binding protein 28 measurement" "WSU-DLCL2" + "4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9" "body fat distribution" "X-linked parkinsonism-spasticity syndrome" "endocervical carcinoma" "autoimmune atherosclerosis" "sodium 8-bromo-3',5'-cyclic GMP" - "4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9" "eye morphology measurement" "hormone replacement therapy" "intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects" @@ -4812,8 +4812,8 @@ "JinB8" "NKG2-D type II integral membrane protein measurement" "Charcot-Marie-Tooth disease X-linked dominant 1" - "permetin A measurement" "cardiomyopathy, familial restrictive, 1" + "permetin A measurement" "hyaline fibromatosis syndrome" "Illumina Genome Analyzer IIx standard manufacturer's protocol" "Cleft mandible" @@ -4824,8 +4824,8 @@ "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome" "protein HEXIM2" "Echinochloa glabrescens" - "BTB/POZ domain-containing protein KCTD6" "docosapentaenoate (n6 DPA; 22:5n6) measurement" + "BTB/POZ domain-containing protein KCTD6" "phosphatidylcholine 38:7 measurement" "obsolete_neurofibromatosis" "T1 (174 x CEM.T1) cell" @@ -4834,17 +4834,17 @@ "lymphoblastoid cell line" "acute myeloid leukemia, t(3;12)(q23;p12.3)" "autosomal dominant hereditary sensory and autonomic neuropathy" - "obsolete_autosomal recessive cutis laxa type 2A" "frontotemporal dementia and/or amyotrophic lateral sclerosis" "Malignant hyperthermia" - "L-Saccharopine measurement" + "obsolete_autosomal recessive cutis laxa type 2A" "vestibular disease" - "WNT1-inducible-signaling pathway protein 1 measurement" "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" "obsolete fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency" "vasodilator agent" "pelvis-shoulder dysplasia" @@ -4923,11 +4923,11 @@ "contactin-2 measurement" "muscular dystrophy, congenital, with rapid progression" "EF-hand calcium-binding domain-containing protein 4B" - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13" "lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13" "obsolete_familial atrial myxoma" - "level of palmitoyl-protein thioesterase 1 in blood serum" "obsolete_monocytopenia with susceptibility to infections" + "level of palmitoyl-protein thioesterase 1 in blood serum" "level of trans-3-hydroxy-L-proline dehydratase in blood serum" "optic cup area measurement" "galactosylceramidase activity" @@ -4942,8 +4942,8 @@ "O-oleoylcarnitine" "chromoblastomycosis" "obsolete_congenital trochlear nerve palsy" - "childhood T acute lymphoblastic leukemia" "Phe-Gly" + "childhood T acute lymphoblastic leukemia" "autoimmune myocarditis" "protein O-glucosyltransferase 3" "human herpesvirus 8-related tumor" @@ -4976,8 +4976,8 @@ "multiple congenital anomalies-neurodevelopmental syndrome, X-linked" "dermatoosteolysis, Kirghizian type" "rheumatic fever" - "ribosome maturation protein sbds measurement" "idiopathic acute transverse myelitis" + "ribosome maturation protein sbds measurement" "Vocal cord dysfunction" "Parkinson disease 13, autosomal dominant, susceptibility to" "energy intake" @@ -4991,10 +4991,10 @@ "microcephaly-micromelia syndrome" "polyunsaturated fatty acid lipoxygenase ALOX15B" "Pan troglodytes troglodytes" + "Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation" "non-POU domain-containing octamer-binding protein" "3-mercaptopyruvate sulfurtransferase" "level of (5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol in blood serum" - "Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation" "diacylglycerol 38:3 measurement" "rhizomelic limb shortening with dysmorphic features" "TATL-seq" @@ -5154,15 +5154,15 @@ "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" "obsolete_perinatal lethal hypophosphatasia" - "Psoas abscess" "punctate palmoplantar keratoderma type III" + "Psoas abscess" "endothelin-2 measurement" "vanillylmandelate" "occipital lobe" @@ -5192,10 +5192,10 @@ "level of semaphorin-4B in blood serum" "COLO 849" "obsolete_rhizomelic dysplasia, Patterson-Lowry type" - "Burkholderia thailandensis" "risk-taking behaviour" - "cirrhosis of liver" + "Burkholderia thailandensis" "infectious ectromelia" + "cirrhosis of liver" "cutaneous focal mucinosis" "level of MORF4 family-associated protein 1-like 1 in blood serum" "thrombocytopenia 1" @@ -5254,8 +5254,8 @@ "multiminicore myopathy" "glutathione S-transferase theta-2B measurement" "rectosigmoid carcinoma" - "stem node" "obsolete_abdominal cavity" + "stem node" "formate measurement" "Anti-Epstein-Barr virus early antigen IgG measurement" "X-18601 measurement" @@ -5269,14 +5269,14 @@ "Finnish upper limb-onset distal myopathy" "phenylalanine--tRNA ligase, mitochondrial" "L428" - "C-type lectin domain family 4 member E measurement" "fetuin-B measurement" + "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" @@ -5290,8 +5290,8 @@ "level of RNA-binding motif, single-stranded-interacting protein 1 in blood serum" "obsolete_pharyngeal pouch" "Rare hereditary hemochromatosis" - "trigeminal nerve disease" "platelet-activating factor acetylhydrolase 2, cytoplasmic" + "trigeminal nerve disease" "obsolete_Wilms tumor(2)" "discoid lupus erythematosus" "Populus maximowiczii x Populus nigra" @@ -5327,8 +5327,8 @@ "obsolete_caudate nucleus" "pure hereditary spastic paraplegia" "obsolete_dentin dysplasia type II" - "CD19-positive B-lymphocyte count" "level of ceramide in blood serum" + "CD19-positive B-lymphocyte count" "Structure-Seq" "cancer/testis antigen 1" "level of syntaxin-7 in blood serum" @@ -5349,10 +5349,10 @@ "interleukin-13 (Homo sapiens)" "vinexin b measurement" "retinoic acid receptor responder protein 1 measurement" + "response to cold medicine" "0 seed germination stage" "acute myeloid leukemia, KIT gene mutation" "beta-1,3-galactosyltransferase 5" - "response to cold medicine" "Ogataea angusta" "14-3-3 protein beta/alpha measurement" "oligogalacturonide" @@ -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" @@ -5384,13 +5384,13 @@ "maxillary sinus Schneiderian papilloma" "pars interarticularis of vertebra" "level of dihydropyrimidinase-related protein 4 in blood serum" - "fulminant type 1 diabetes" "partial trisomy of the long arm of chromosome 5" + "fulminant type 1 diabetes" "obsolete_autosomal recessive multiple pterygium syndrome" "pelvis bone mineral density"@en + "saturated fatty acids measurement " "level of protein Spindly in blood serum" "SchC6pf-Schulz-Passarge syndrome" - "saturated fatty acids measurement " "phosphatidylcholine O-30:0" "Aplasia/hypoplasia of the femur" "multiple bone fractures" @@ -5514,9 +5514,9 @@ "14q22q23 microdeletion syndrome" "pregnancy" "phosphatidylcholine 39:5 measurement" - "obsolete_Rh deficiency syndrome" "Eca-109 cell" "substance unit" + "obsolete_Rh deficiency syndrome" "collagen 6-related myopathy" "obsolete_Klippel-Trenaunay syndrome" "level of leucine-rich repeat-containing protein 3 in blood serum" @@ -5580,14 +5580,14 @@ "immature Vgamma2-positive fetal thymocyte" "capillary infantile hemangioma" "obsolete_Hypermethioninemia due to glycine N-methyltransferase deficiency" - "phosphatidylcholine measurement"@en "B melanoma antigen 2" + "phosphatidylcholine measurement"@en "level of aldehyde dehydrogenase 1A1 in blood serum" "disorder of glyoxylate metabolism" "Renal Angiomyoadenomatous Tumor" "obsolete_non-acquired pituitary hormone deficiency" - "transmembrane protein 190" "phosphoserine measurement" + "transmembrane protein 190" "AP-4 complex accessory subunit tepsin measurement" "5-methylthioadenosine (MTA) measurement" "nucleosome-remodeling factor subunit BPTF" @@ -5795,8 +5795,8 @@ "NT-1" "embryonic labial sensory complex" "1-oleoylglycerol (18:1) measurement" - "insulin gene enhancer protein ISL-1" "obsolete_cerebrotendinous xanthomatosis" + "insulin gene enhancer protein ISL-1" "HSD10 disease" "KARPAS-620" "level of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 in blood serum" @@ -5863,9 +5863,9 @@ "myocyte-specific enhancer factor 2C measurement" "cerebellar ataxia, brain abnormalities, and cardiac conduction defects" "obsolete embryonic esophageal ganglion" - "reactive cutaneous fibrous lesion" - "familial vesicoureteral reflux" "Pubic Symphysis Diastasis" + "familial vesicoureteral reflux" + "reactive cutaneous fibrous lesion" "enhancer of rudimentary homolog measurement" "TSH producing pituitary tumor" "phosphate ion" @@ -5912,8 +5912,8 @@ "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" + "distal myopathy" "X-22520 measurement" "thrombin-antithrombin complex measurement" "obsolete_abdominal skin" @@ -6009,8 +6009,8 @@ "obsolete rare genetic disease with myoclonus as a major feature" "Mopeia virus" "hypotrichosis-lymphedema-telangiectasia syndrome (grouping)" - "MAGUK p55 subfamily member 6 measurement" "epilepsia partialis continua" + "MAGUK p55 subfamily member 6 measurement" "C-type lectin domain family 2 member B" "level of N-terminal EF-hand calcium-binding protein 3 in blood serum" "decreased walking ability" @@ -6027,9 +6027,9 @@ "superoxide-generating NAD(P)H oxidase activity" "prolyl hydroxylase EGLN2" "chloroplast membrane" - "Atypical hypotonia - cystinuria syndrome" "Gastric Squamous Cell Carcinoma" "CD8-positive, alpha-beta cytokine secreting effector T cell" + "Atypical hypotonia - cystinuria syndrome" "leptomeningeal sarcoma" "HCC202" "Theiler stage 7" @@ -6042,20 +6042,20 @@ "secreted frizzled-related protein 4" "Drugs affecting bone structure and mineralization use measurement" "interleukin-5 receptor subunit alpha" - "obsolete_frontonasal dysplasia" "Ovarian Leydig Cell Tumor" "Hallux valgus" + "obsolete_frontonasal dysplasia" "obsolete_juvenile Huntington disease" "apical meristem" "intellectual disability, autosomal dominant 41" "glutamine synthetase" - "acute myeloid leukemia, GATA1 gene mutation" "infiltrating bladder urothelial carcinoma" + "acute myeloid leukemia, GATA1 gene mutation" "obsolete_response to stavudine" "bladder mixed adenocarcinoma" + "obsolete_ring chromosome 20" "p-acetamidophenylglucuronide measurement" "fatty acid synthase" - "obsolete_ring chromosome 20" "autoimmune hemolytic anemia, cold type" "self rated health" "level of sulfotransferase 2A1 in blood serum" @@ -6077,8 +6077,8 @@ "obsolete_EEC syndrome and related syndrome" "mucopolysaccharidosis type 6, rapidly progressing" "Edema" - "obsolete_Rosselli-Gulienetti syndrome" "annexin A9" + "obsolete_Rosselli-Gulienetti syndrome" "muscular dystrophy" "docosahexaenoate" "glucuronide of C19H28O4 (1) measurement" @@ -6212,6 +6212,7 @@ "1-palmitoyl-2-arachidonoyl-sn-glycerol" "childhood germ cell tumor" "obsolete_classic congenital lipoid adrenal hyperplasia due to STAR deficency" + "obsolete_microcephalic osteodysplastic primordial dwarfism type II" "level of reelin in blood serum" "urine glucose measurement" "ribonucleoside metabolic process" @@ -6220,7 +6221,6 @@ "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" - "luminous intensity unit" "Kluver-Bucy syndrome" + "luminous intensity unit" "level of intelectin-1 in blood serum" "level of selenoprotein H in blood serum" "childhood central nervous system embryonal carcinoma" @@ -6280,9 +6280,9 @@ "isolated congenitally uncorrected transposition of the great arteries" "eosinophil progenitor cell" "CS57572" + "obsolete_familial parathyroid adenoma" "obsolete_Smith-Fineman-Myers syndrome" "DMS273" - "obsolete_familial parathyroid adenoma" "thrombopoietin receptor measurement" "acquired" "Beckwith-Wiedemann syndrome due to CDKN1C mutation" @@ -6316,8 +6316,8 @@ "obsolete_dermatoosteolysis, Kirghizian type" "autosomal recessive osteopetrosis 3" "senile cataract" - "level of melanoma antigen preferentially expressed in tumors in blood serum" "trichostatin A" + "level of melanoma antigen preferentially expressed in tumors in blood serum" "macular corneal dystrophy" "level of leucine-rich repeat-containing protein 20 in blood serum" "facial pigmentation measurement" @@ -6378,8 +6378,8 @@ "virgin" "Neonatal hypotonia" "dihydropyrimidinase-related protein 2" - "Thyroid Gland Undifferentiated (Anaplastic) Carcinoma" "diaphanospondylodysostosis" + "Thyroid Gland Undifferentiated (Anaplastic) Carcinoma" "chronic myelogenous leukemia cell line" "Upper limb spasticity" "4-hydroxychlorothalonil measurement" @@ -6428,8 +6428,8 @@ "obsolete_leukoencephalopathy-palmoplantar keratoderma syndrome" "congenital pseudoarthrosis of the limbs" "RPMI-7951" - "intestinal motility" "obsolete_45,X/46,XY mixed gonadal dysgenesis" + "intestinal motility" "vitamin B12-unresponsive methylmalonic acidemia type mut-" "Bronchiectasis" "Pachydermoperiostosis" @@ -6483,8 +6483,8 @@ "benign female reproductive system neoplasm" "coronary artery disease" "Crassostrea ariakensis" - "lactase-phlorizin hydrolase measurement" "Prominent occiput" + "lactase-phlorizin hydrolase measurement" "Weill-Marchesani 4 syndrome, recessive" "D-amino-acid oxidase" "myofibromatosis, infantile, 2" @@ -6492,10 +6492,10 @@ "Nitrosomonas europaea" "large-insert clone DNA microarray" "eye neoplasm" - "Genetic 46,XY disorder of sex development of endocrine origin" "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" "divergent protein kinase domain 1C" "specific developmental disorder" "HCC78" @@ -6526,14 +6526,14 @@ "Cystic fibrosis - gastritis - megaloblastic anemia" "pneumonia caused by chlamydia" "2-oleoylglycerol (18:1) measurement" - "triacylglycerol 58:10 measurement"@en "viral pericarditis" - "trichuriasis" + "triacylglycerol 58:10 measurement"@en "level of actin-related protein 2/3 complex subunit 5 in blood serum" "osteoclast-stimulating factor 1" "SALK_037727" "level of Phosphatidylinositol (18:0_18:2) in blood serum" "infant head circumference" + "trichuriasis" "obsolete_Bartter syndrome" "febrile seizures, familial, 2" "interleukin 12 measurement" @@ -6555,9 +6555,9 @@ "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" "CPT-seq" @@ -6600,8 +6600,8 @@ "China"@en "China" "level of pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 in blood serum" - "osteogenesis imperfecta, type 21" "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome" + "osteogenesis imperfecta, type 21" "mediastinum leiomyoma" "pregnancy zone protein" "level of Rho-related GTP-binding protein RhoQ in blood serum" @@ -6615,18 +6615,18 @@ "obsolete_Dowling-Degos disease" "interleukin-18 receptor accessory protein" "UDP-glucose 6-dehydrogenase" + "GM17144" "Xylella fastidiosa" "leukoencephalopathy with bilateral anterior temporal lobe cysts" - "GM17144" "Genetic polyendocrinopathy" "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" - "sorting nexin-17 measurement" + "Glaucoma associated with neural crest cell migration anomaly" "transcription factor IIIb 90 kda subunit measurement" "Tented upper lip vermilion" + "sorting nexin-17 measurement" "Bartter syndrome" "3-Indolepropionic acid to LysoPC 20:2 ratio" "obsolete non-syndromic limb overgrowth" @@ -6672,8 +6672,8 @@ "Tietz syndrome" "transmembrane and ubiquitin-like domain-containing protein 2 measurement" "obsolete_thecal cell layer" - "level of phospholipid transfer protein in blood serum" "partial pressure of oxygen measurement" + "level of phospholipid transfer protein in blood serum" "EKVX" "Mitochondrial disease with peripheral neuropathy" "laryngitis" @@ -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" @@ -6986,8 +6986,8 @@ "GM11839" "birth weight" "Decreased activity of mitochondrial complex III" - "NCI-H2126" "cerebral cavernous malformation" + "NCI-H2126" "kinesin-like protein KIF3C" "ideomotor apraxia" "Sorsby's fundus dystrophy" @@ -7134,9 +7134,9 @@ "cryptophthalmia" "campesterol" "lamina-associated polypeptide 2, isoforms beta/gamma measurement" - "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 measurement" "congenital muscular dystrophy due to integrin alpha-7 deficiency" "DNA-binding protein SATB1" + "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 measurement" "childhood choroid plexus neoplasm" "Gibberella moniliformis" "obsolete_Perry syndrome" @@ -7180,8 +7180,8 @@ "duct" "obsolete_syndromic multisystem autoimmune disease due to ITCH deficiency" "Pyle disease" - "oligonucleotide DNA microarray" "Melnick-Needles syndrome" + "oligonucleotide DNA microarray" "epithelial cell of thymus" "serous adenocarcinoma" "GM17137" @@ -7189,21 +7189,21 @@ "sexual behavior" "HCC827" "SW48" - "hypotonia, infantile, with psychomotor retardation and characteristic facies 1" "Burkholderia cepacia" + "hypotonia, infantile, with psychomotor retardation and characteristic facies 1" "Myopathy with eye involvement" "obsolete_epithalamus" "paracetamol" "Autosomal recessive cerebellar ataxia - saccadic intrusion" "thymocyte nuclear protein 1 measurement" "Tibial Adamantinoma" - "TCR Chain Paring" "CS57790" "nucleolar protein 16" "hereditary hemochromatosis type 1" "basal ganglia calcification, idiopathic, 8, autosomal recessive" "progressive muscular dystrophy" "Caenorhabditis elegans" + "TCR Chain Paring" "choline change measurement" "EH domain-containing protein 4" "orofacial cleft 6, susceptibility to" @@ -7219,9 +7219,9 @@ "Ovarian Steroid Cell Tumor" "obsolete_disorder of sialic acid metabolism" "Sensorimotor neuropathy" - "whole plant fruit formation stage 30 to 50%" "osteopetrosis-associated transmembrane protein 1" "infant" + "whole plant fruit formation stage 30 to 50%" "homocysteine measurement" "triacylglycerol 58:11 measurement"@en "rhophilin-2 measurement" @@ -7237,8 +7237,8 @@ "obsolete_dorsal telencephalon" "cytokine SCM-1 beta" "cataract 16 multiple types" - "1-methylurate anion" "pyelocystitis" + "1-methylurate anion" "epididymal secretory protein E1 measurement" "developmental and epileptic encephalopathy, 13" "childhood central nervous system primitive neuroectodermal neoplasm" @@ -7269,8 +7269,8 @@ "GM19023" "hair cell posterior macula" "benign endocrine neoplasm" - "Joint dislocation" "octadecenedioate (C18:1-DC) measurement" + "Joint dislocation" "global developmental delay-osteopenia-ectodermal defect syndrome" "obsolete_Leukoencephalopathy - metaphyseal chondrodysplasia" "Upturned corners of mouth" @@ -7335,8 +7335,8 @@ "perceptual disorders" "Early-onset ataxia with dementia" "prealbumin measurement" - "Mantle cell lymphoma" "pollination" + "Mantle cell lymphoma" "concentration of large LDL particles measurement" "Ichthyosis - oral and digital anomalies" "obsolete_muscular lipidosis" @@ -7386,8 +7386,8 @@ "epididymis-specific alpha-mannosidase measurement" "Microsporum ferrugineum" "leukoencephalopathy with calcifications and cysts" - "NKL"@en "CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell" + "NKL"@en "level of SAFB-like transcription modulator in blood serum" "GTP-binding protein Di-Ras1" "craniofacial dysplasia - osteopenia syndrome" @@ -7465,10 +7465,10 @@ "GM14467" "columnar neuron" "papillary carcinoma" + "metabolic myopathy" "mesenteric lymph node" "level of calcium-dependent secretion activator 2 in blood serum" "G protein-coupled receptor kinase 5" - "metabolic myopathy" "BAG family molecular chaperone regulator 1" "level of uncharacterized protein C2orf66 (human) in blood serum" "kynurenate measurement" @@ -7524,8 +7524,8 @@ "2-(dimethylamino) guanosine measurement" "pulmonary coin lesion" "cervical artery dissection" - "Anterior hypopituitarism" "theophylline" + "Anterior hypopituitarism" "spastic paraplegia-nephritis-deafness syndrome" "level of dihydropyrimidinase-related protein 5 in blood serum" "GTP-binding protein Di-Ras3" @@ -7614,11 +7614,11 @@ "sn-glycerol 3-phosphate" "small nuclear ribonucleoprotein F measurement" "Ovarian Mixed Epithelial Tumor" - "hereditary spastic paraplegia 11" "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" "autosomal recessive spinocerebellar ataxia 11" @@ -7695,10 +7695,10 @@ "obsolete_symptomatic form of hemophilia A in female carriers" "titin measurement" "neutrophil progenitor cell" - "signal-regulatory protein beta-2 measurement" "hypoxanthine guanine phosphoribosyltransferase partial deficiency" "PR interval" "manganese molecular entity" + "signal-regulatory protein beta-2 measurement" "kidney pelvis sarcomatoid transitional cell carcinoma" "obsolete_eye disc" "receptor tyrosine-protein kinase erbb-3 measurement" @@ -7721,11 +7721,11 @@ "response to piromelatine"@en "gastrula 90%-epiboly" "8-hydroxydeoxyguanosine measurement"@en - "obsolete coralliform cataract" "classic medulloblastoma" "GM11881" "CB306" "corneal topography" + "obsolete coralliform cataract" "leucine-rich repeat and fibronectin type-III domain-containing protein 3" "receptor-type tyrosine-protein phosphatase S" "pleckstrin" @@ -7738,14 +7738,14 @@ "cysticercosis" "trait in response to vancomycin" "obsolete_UMUC3" + "3-hydroxyanthranilic acid measurement"@en "opportunistic mycosis" "otoraplin" - "3-hydroxyanthranilic acid measurement"@en + "Eosinophilic Myelocyte Count" "isolated hereditary congenital facial paralysis" "symphalangism" "Drosophila developmental tissue" "embryonic day 12.5" - "Eosinophilic Myelocyte Count" "matrix metalloproteinase 8 measurement" "W syndrome" "tissue factor measurement"@en @@ -7756,9 +7756,9 @@ "obsolete symbiotic process mediated by secreted substance" "tumor necrosis factor alpha-induced protein 8" "Clinodactyly" - "obsolete_congenital brain dysgenesis due to glutamine synthetase deficiency" "chromosome 10q23 deletion syndrome" "sperm-associated antigen 11A" + "obsolete_congenital brain dysgenesis due to glutamine synthetase deficiency" "LAMA2-related muscular dystrophy" "myofibrillar myopathy 11" "neurodevelopmental disorder with hyperkinetic movements and dyskinesia" @@ -7794,8 +7794,8 @@ "epilepsy, juvenile myoclonic, susceptibility to, 6" "arthrogryposis-like syndrome" "level of NF-kappa-B inhibitor beta in blood serum" - "cerebral cortex volume measurement"@en "protein FAM221B" + "cerebral cortex volume measurement"@en "infancy electroclinical syndrome" "urea transporter 2" "LHCN-M2" @@ -7814,8 +7814,8 @@ "eicosapentaenoate EPA; 20:5n3 measurement" "disorder of carbohydrate transmembrane transport and absorption" "Paralysis, Obstetric" - "Bencze syndrome" "anterior thigh muscle fat infiltration measurement"@en + "Bencze syndrome" "acquired prothrombin deficiency" "NCI-H2195" "apolipoprotein A-V measurement" @@ -7929,11 +7929,11 @@ "T cell activation" "uracil" "Tonsillar Squamous Cell Carcinoma" + "Alzheimer's disease biomarker measurement" "CS57801" "dihydropyrimidinase-related protein 4" "jaw-winking syndrome" "pontocerebellar hypoplasia type 3" - "Alzheimer's disease biomarker measurement" "intellectual developmental disorder, autosomal dominant 63, with macrocephaly" "TCR-LA-MC PCR" "free cholesterol in medium VLDL measurement " @@ -8004,10 +8004,10 @@ "level of killer cell immunoglobulin-like receptor 3DL1 in blood serum" "GM19025" "GTP-binding protein Di-Ras3 measurement" - "ExSeq" "root epidermis" - "developmental and epileptic encephalopathy, 61" + "ExSeq" "central nervous system organ benign neoplasm" + "developmental and epileptic encephalopathy, 61" "RNA polymerase II subunit A C-terminal domain phosphatase SSU72" "histone-lysine N-methyltransferase SETMAR measurement" "level of phosphoglucomutase-like protein 5 in blood serum" @@ -8051,8 +8051,8 @@ "tissue modifier" "level of vascular endothelial growth factor A in blood serum" "ribonuclease K6 measurement" - "mycotic endocarditis" "isolated agenesis of gallbladder" + "mycotic endocarditis" "Paroxysmal supraventricular tachycardia" "skin epithelioid hemangioma" "alcohol dependence" @@ -8061,17 +8061,17 @@ "anxiety disorder" "obsolete_Ichthyosis follicularis - alopecia - photophobia" "obsolete_pantothenate kinase-associated neurodegeneration" + "epiphycan measurement" + "HK-1"@en "total lipids in IDL" "Cowden syndrome 1" "HCC95" "SW620" - "epiphycan measurement" "infantile liver failure syndrome 1" - "cardiomyopathy, dilated, 1LL" "level of BRICHOS domain-containing protein 5 (human) in blood serum" + "cardiomyopathy, dilated, 1LL" "hyperopia, high" "Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell" - "HK-1"@en "escherichia coli discitis" "toll-interacting protein measurement" "COG8-congenital disorder of glycosylation" @@ -8191,9 +8191,9 @@ "multiple synostoses syndrome 2" "Beta-thalassemia with other manifestations" "obsolete_Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency" + "embryonic stage 13" "M-phase inducer phosphatase 2" "Short thumb" - "embryonic stage 13" "level of glutamine synthetase in blood serum" "Coffea" "renal tubular transport disease" @@ -8211,8 +8211,8 @@ "intermediate severe Salla disease" "Caffey disease" "triglycerides to total lipids in large HDL percentage " - "mitochondrial complex I deficiency" "46,XY partial gonadal dysgenesis" + "mitochondrial complex I deficiency" "level of transmembrane protein 106A in blood serum" "chromosome 17q12 duplication syndrome" "level of 40S ribosomal protein S14 in blood serum" @@ -8265,10 +8265,10 @@ "obsolete_lobar holoprosencephaly" "protein kinase b alpha/beta/gamma measurement" "platelet glycoprotein VI measurement" + "dourine" "skin disease caused by bacterial infection" "nephrogenic diabetes insipidus" "ADP-sugar pyrophosphatase" - "dourine" "head kidney" "infantile osteopetrosis with neuroaxonal dysplasia" "leiomodin-1" @@ -8293,9 +8293,9 @@ "GATA5-related congenital heart defects" "obsolete_floor plate" "CS57776" - "Malpighian tubule main body primordium" - "gallbladder lipoma" "SC-1" + "gallbladder lipoma" + "Malpighian tubule main body primordium" "childhood cerebral astrocytoma" "squamous cell carcinoma of the corpus uteri" "carnosine measurement"@en @@ -8336,16 +8336,16 @@ "hereditary spastic paraplegia 15" "Argininemia" "Zenker diverticulum" - "level of xylosyl- and glucuronyltransferase LARGE1 in blood serum" "Ketonuria" + "level of xylosyl- and glucuronyltransferase LARGE1 in blood serum" "Generalized non-motor (absence) seizure" "zinc-alpha-2-glycoprotein measurement" "malignant tumor of extrahepatic bile duct" "Streaky metaphyseal sclerosis" "HG02642" "obsolete_lung (Homo sapiens)" - "organ donor" "obsolete_Huntington disease-like 3" + "organ donor" "neuromuscular junction disease" "obsolete_partial trisomy/tetrasomy of chromosome 9" "maltotriose measurement" @@ -8434,8 +8434,8 @@ "zinc sulfate" "protein LDOC1 measurement" "chromosome 8-derived supernumerary ring/marker" - "obsolete_brachyolmia, Maroteaux type" "Neonatal insulin-dependent diabetes mellitus" + "obsolete_brachyolmia, Maroteaux type" "mammary stem cell" "obsolete_3-hydroxy-3-methylglutaryl-CoA synthase deficiency" "myeloblast" @@ -8502,8 +8502,8 @@ "obsolete interaction with host via secreted substance" "childhood electroclinical syndrome" "sperm-associated antigen 11B" - "obsolete Heimler syndrome" "obsolete_partial deletion of the short arm of chromosome 2" + "obsolete Heimler syndrome" "OCI-LY3" "ABCA4-related retinopathy" "RNA-Seq" @@ -8683,8 +8683,8 @@ "trochanter" "Blepharophimosis - epicanthus inversus - ptosis due to a point mutation" "obsolete_vein" - "tympanic membrane disease" "T+ B+ severe combined immunodeficiency" + "tympanic membrane disease" "Paracoccidioides brasiliensis" "Stickler syndrome type 1" "gonococcal iridocyclitis" @@ -8767,11 +8767,11 @@ "1-linoleoylglycerol (18:2) measurement" "phosphatidylcholine diacyl C40:5 measurement" "benzoate measurement" - "obsolete_congenital contractural arachnodactyly" "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 tether containing UBX domain for GLUT4 in blood serum" "level of nucleolysin TIAR in blood serum" @@ -8813,30 +8813,30 @@ "level of mesoderm development candidate 2 in blood serum" "level of phosphatidylinositol" "level of phospholipase A and acyltransferase 3 in blood serum" - "Palpitations" "Geospiza conirostris" "strabismus, susceptibility to" "GM14478" + "Palpitations" "Neutrophilic Metamyelocyte Count" + "scleroderma" "obsolete Y chromosome number anomaly" "Ovarian Transitional Cell Carcinoma" "immunodeficiency 79" "adactyly of foot" - "scleroderma" "sporadic amyotrophic lateral sclerosis" "N-acetyl-2-aminooctanoate measurement" "ureter benign neoplasm" - "obsolete_LAMB2-related infantile-onset nephrotic syndrome" "infective vaginitis" "carcinoma ex pleomorphic adenoma" "CL1-0 cell" - "obsolete_hypothyroidism due to deficient transcription factors involved in pituitary development or function" "retinal cell" - "stearoyl-arachidonoyl-glycerophosphoinositol (1) measurement" + "obsolete_LAMB2-related infantile-onset nephrotic syndrome" + "obsolete_hypothyroidism due to deficient transcription factors involved in pituitary development or function" "Camptodactyly" "right aortic arch" "ichthyosiform erythroderma, corneal involvement, and hearing loss" "protein FAM162B" + "stearoyl-arachidonoyl-glycerophosphoinositol (1) measurement" "receptor-interacting serine/threonine-protein kinase 2 measurement" "transaldolase deficiency" "obsolete_PEHO syndrome" @@ -8870,17 +8870,17 @@ "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" - "urachus epithelium" + "E3 ubiquitin-protein ligase TRIM62" "carpel" + "urachus epithelium" + "developmental and epileptic encephalopathy, 62" "level of alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 in blood serum" "scoliosis" - "developmental and epileptic encephalopathy, 62" "cardiovascular organ benign neoplasm" "chromophobe renal cell carcinoma" "serine/threonine-protein kinase 10" @@ -8904,8 +8904,8 @@ "obsolete_response to pazopanib" "acute erythroleukemia" "Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16" - "obsolete_9q31.1q31.3 microdeletion syndrome" "IgG-negative class switched memory B cell" + "obsolete_9q31.1q31.3 microdeletion syndrome" "propionylcarnitine-to-isovalerylcarnitine ratio" "obsolete_autosomal recessive cerebral atrophy" "sebacate(2-)" @@ -8936,8 +8936,8 @@ "ATM-related cancer predisposition" "Cy5 dye" "dysgammaglobulinemia" - "anti-hepatitis E virus antibody measurement" "cafe au lait spots, multiple" + "anti-hepatitis E virus antibody measurement" "obsolete MSH3-related attenuated familial adenomatous polyposis" "transcription factor HES-5" "level of NudC domain-containing protein 2 in blood serum" @@ -8950,10 +8950,10 @@ "short-rib thoracic dysplasia 10 with or without polydactyly" "disintegrin and metalloproteinase domain-containing protein 19 measurement" "level of activator of apoptosis harakiri in blood serum" - "adenosine deaminase measurement" "Neutrophils Band Form to Neutrophils Ratio Measurement" "level of His-Phe in blood" "peroxisomal acyl-coenzyme A oxidase 1" + "adenosine deaminase measurement" "Hypercalcemia" "Populus alba" "obsolete_corticosteroid-binding globulin deficiency" @@ -8972,9 +8972,9 @@ "aleurone layer" "level of Sterol ester (27:1/16:1) in blood serum" "Oscheius tipulae" - "snowflake vitreoretinal degeneration" "obsolete_Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type" "Ataxia - oculomotor apraxia type 1" + "snowflake vitreoretinal degeneration" "n-acetylglutamate synthase, mitochondrial measurement" "JT709" "obsolete_riboflavin transporter deficiency" @@ -8992,12 +8992,12 @@ "level of SWI/SNF complex subunit SMARCC1 in blood serum" "Portal vein thrombosis" "N-acetylgalactosamine-4-sulfatase activity" - "1A2" - "obsolete_alobar holoprosencephaly" "protein kinase c alpha type measurement" + "1A2" "level of nucleosome assembly protein 1-like 2 in blood serum" - "dracunculiasis" + "obsolete_alobar holoprosencephaly" "hypogonadotropic hypogonadism-frontoparietal alopecia syndrome" + "dracunculiasis" "fructose-2,6-bisphosphatase TIGAR" "PARC syndrome" "testis-specific serine/threonine-protein kinase 1" @@ -9163,8 +9163,8 @@ "Kleefstra syndrome 2" "obsolete_Brachyolmia type 1, Toledo type" "chenodeoxycholate measurement"@en - "Phenylalanine-d8" "obsolete syndromic urogenital tract malformation" + "Phenylalanine-d8" "Craniofrontonasal dysplasia" "corpus collosum mid-posterior volume measurement"@en "level of C-X-C motif chemokine 17 in blood serum" @@ -9334,8 +9334,8 @@ "tinea unguium" "1-eicosapentaenoyl-GPE (20:5) measurement" "MYH9-related disease" - "inactive tyrosine-protein kinase 7" "level of nuclear transport factor 2 in blood serum" + "inactive tyrosine-protein kinase 7" "level of epidermal growth factor-like protein 6 in blood serum" "desmoplastic infantile ganglioglioma" "level of Rab-like protein 3 in blood serum" @@ -9498,8 +9498,8 @@ "phosphatidylcholine diacyl C40:6 measurement" "catechol sulfate measurement" "post-traumatic stress disorder" - "level of arsenite methyltransferase in blood serum" "obsolete_congenital muscular dystrophy with cerebellar involvement" + "level of arsenite methyltransferase in blood serum" "obsolete_Beckwith-Wiedemann syndrome" "level of golgin subfamily A member 7 in blood serum" "eye-antennal disc" @@ -9514,8 +9514,8 @@ "NCI-H69" "lactadherin measurement" "Increased blood pressure" - "obsolete_syndromic hyperopia" "duodenal neuroendocrine neoplasm" + "obsolete_syndromic hyperopia" "hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" "anterior segment dysgenesis 7" "chromosome 17q23.1-q23.2 deletion syndrome" @@ -9541,14 +9541,13 @@ "Atrophy/Degeneration affecting the central nervous system" "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" "Karenia brevis" - "adenylosuccinate synthetase isozyme 2 measurement" "Paralysis" + "adenylosuccinate synthetase isozyme 2 measurement" "nervous system cancer" "level of sphingomyelin" - "Scleroderma Polymyositis Overlap Syndrome" - "Ovarian Tumor of the Thecoma/Fibroma Group" "nephronophthisis 3" "short stature-wormian bones-dextrocardia syndrome" + "Ovarian Tumor of the Thecoma/Fibroma Group" "Neutrophilic Myelocyte Count" "Janus kinase and microtubule-interacting protein 3" "Flattened epiphysis" @@ -9556,6 +9555,7 @@ "opioid dependence, susceptibility to, 1" "sulfide quinone oxidoreductase deficiency" "Rickettsia prowazekii Rp22" + "Scleroderma Polymyositis Overlap Syndrome" "ureter leiomyoma" "obsolete_diazoxide-resistant hyperinsulinism" "Plantar Fasciitis" @@ -9670,11 +9670,11 @@ "disintegrin and metalloproteinase domain-containing protein 29 measurement" "L-Leucine measurement" "advanced glycosylation end product-specific receptor ligand measurement" - "splenic manifestation of prolymphocytic leukemia" "Ovalocyte Count" + "splenic manifestation of prolymphocytic leukemia" + "Hypoalbuminemia" "homogentisic acid" "Stevens-Johnson syndrome" - "Hypoalbuminemia" "AP-1 complex-associated regulatory protein" "malignant ciliary body melanoma" "level of interferon-induced protein with tetratricopeptide repeats 2 in blood serum" @@ -9745,8 +9745,8 @@ "nasal cavity" "Apis dorsata" "calcyclin-binding protein" - "endosome/lysosome-associated apoptosis and autophagy regulator family member 2" "obsolete_autosomal recessive congenital ichthyosis" + "endosome/lysosome-associated apoptosis and autophagy regulator family member 2" "Amblyopia" "obsolete_hereditary mucoepithelial dysplasia" "obsolete_amelia of upper limb" @@ -9761,8 +9761,8 @@ "Bardet-Biedl syndrome 7" "small EDRK-rich factor 2" "obsolete_Treacher-Collins syndrome" - "level of creatine kinase U-type, mitochondrial in blood serum" "Decreased body weight" + "level of creatine kinase U-type, mitochondrial in blood serum" "keratin, type I cytoskeletal 19" "level of nucleoside diphosphate kinase, mitochondrial in blood serum" "estrogen-receptor positive breast cancer" @@ -9807,8 +9807,8 @@ "ski-like protein measurement" "X-12906 measurement" "Wiskott-Aldrich syndrome" - "obsolete_pulmonary sclerosing hemangioma" "level of Diacylglycerol (16:1_18:1) in blood serum" + "obsolete_pulmonary sclerosing hemangioma" "C-C motif chemokine 24 measurement" "facial morphology measurement" "C1GALT1-specific chaperone 1" @@ -9914,9 +9914,9 @@ "protein eva-1 homolog B" "dihydropteridine reductase" "S-allylcysteine measurement" - "chronic human papillomavirus infection" "level of protein FAM162A in blood serum" "level of BPI fold-containing family A member 2 in blood serum" + "chronic human papillomavirus infection" "NCI-H23" "8q21.11 microdeletion syndrome" "neuromedin-B measurement" @@ -10042,11 +10042,11 @@ "X-linked dominant intellectual disability-epilepsy syndrome" "obsolete_gene" "lobular breast carcinoma" - "glycylpeptide n-tetradecanoyltransferase 1 measurement" - "peak insulin response measurement" "tibial hemimelia, unilateral" + "glycylpeptide n-tetradecanoyltransferase 1 measurement" "pulmonary artery-aorta diameter ratio measurement" "lissencephaly type 3-familial fetal akinesia sequence syndrome" + "peak insulin response measurement" "Spinocerebellar ataxia with axonal neuropathy type 2" "papaverine" "Abnormal blood zinc concentration" @@ -10055,8 +10055,8 @@ "protein Dr1" "CB1 cannabinoid receptor-interacting protein 1" "experimental arthritis" - "reproductive system disorder, non-human animal" "RNET-seq" + "reproductive system disorder, non-human animal" "Golgi apparatus" "NAD-seq" "Ginkgo biloba" @@ -10115,10 +10115,10 @@ "level of intracellular hyaluronan-binding protein 4 in blood serum" "testicular trophoblastic tumor" "rosette growth stage" - "myosin regulatory light chain 2, atrial isoform" "pulmonary function measurement" "Stern-Lubinsky-Durrie syndrome" "host" + "myosin regulatory light chain 2, atrial isoform" "innate effector T cell" "aminoacylase-1 measurement" "Oppositional defiant disorder" @@ -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" @@ -10345,8 +10345,8 @@ "retroperitoneal cancer" "level of serine/threonine-protein phosphatase 4 regulatory subunit 3A in blood serum" "obsolete_congenital tracheal stenosis" - "decubitus ulcer" "obsolete_hereditary glaucoma" + "decubitus ulcer" "corpus callosum agenesis-abnormal genitalia syndrome" "hypogonadotropic hypogonadism-retinitis pigmentosa syndrome" "Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder" @@ -10499,8 +10499,8 @@ "TF1 cell" "Glycogen storage disease due to phosphoglucomutase deficiency" "sepiapterin reductase measurement" - "obsolete_Johanson-Blizzard syndrome" "autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis" + "obsolete_Johanson-Blizzard syndrome" "obsolete_high anorectal malformation" "C-type lectin domain family 6 member A measurement" "GM17758" @@ -10586,9 +10586,9 @@ "killer cell immunoglobulin-like receptor 3DL2 measurement" "human african trypanosomiasis" "Methanosarcina mazei" - "erythroplasia" "ethnicity category"@en "Currarino triad" + "erythroplasia" "whole chromosome random sequencing" "myopathy due to calsequestrin and SERCA1 protein overload" "Tetraploidy" @@ -10659,21 +10659,21 @@ "atypical coarctation of aorta" "noninfective encephalitis"@en "innate immune response" - "obsolete_benign Samaritan congenital myopathy" "trait in response to cytarabine" "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" "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" @@ -10711,11 +10711,11 @@ "fatty acid-binding protein, liver measurement" "spermatogenic failure 25" "musculoskeletal toxicity" - "Spondylocarpotarsal synostosis" - "X-16944 measurement" "pulmonary blastoma" "2-hydroxy-3-methylbutyrate" "level of interleukin-1 alpha in blood serum" + "X-16944 measurement" + "Spondylocarpotarsal synostosis" "endosialin" "level of Thr-Phe in blood" "Abnormality of the tonsils" @@ -10846,9 +10846,9 @@ "obsolete_Alport syndrome" "chromosome 16 trisomy" "obsolete_autosomal recessive palmoplantar keratoderma and congenital alopecia" + "Submandibular Gland Adenoid Cystic Carcinoma" "retinitis pigmentosa 93" "Brassica rapa" - "Submandibular Gland Adenoid Cystic Carcinoma" "parietal lobe volume measurement" "obsolete_guanidinoacetate methyltransferase deficiency" "ovarian clear cell malignant adenofibroma" @@ -10907,14 +10907,14 @@ "picomole" "trophoblastic neoplasm" "amitriptyline" - "Cloverleaf skull - multiple congenital anomalies" "ovarian neoplasm" "Elevated circulating C-reactive protein concentration" "response to supplemental oxygen" "homogentisate 1,2-dioxygenase measurement" - "obsolete_familial long QT syndrome" + "Cloverleaf skull - multiple congenital anomalies" "25-hydroxyvitamin D2" "microcephaly-thin corpus callosum-intellectual disability syndrome" + "obsolete_familial long QT syndrome" "AG08046" "Abnormal cerebral vascular morphology" "tetratricopeptide repeat protein 9A" @@ -10988,16 +10988,16 @@ "GM17247" "N6-methyllysine measurement" "Acute bronchitis" - "left ventricular structural measurement" "obsolete_H720" + "left ventricular structural measurement" "ethylmalonate" "cysteine-rich secretory protein LCCL domain-containing 2 measurement" "benign partial infantile seizures" "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" @@ -11101,9 +11101,9 @@ "ependymal tumor of spinal cord" "fibroblast growth factor 10 measurement" "blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome" - "pheochromocytoma-paraganglioma"@en "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" @@ -11160,9 +11160,9 @@ "pulmonary artery root diameter measurement"@en "cecal disorder" "pulmotonia constitution type"@en - "Autosomal recessive spastic paraplegia type 43" "DArTSeq" "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency" + "Autosomal recessive spastic paraplegia type 43" "Low-set, posteriorly rotated ears" "NKG2-D ligand 2 measurement" "obsolete_Niemann-Pick disease type B" @@ -11188,8 +11188,8 @@ "cathepsin K" "elevated lactate dehydrogenase" "1-benzofuran" - "level of linker for activation of T-cells family member 2 in blood serum" "NAD(P)HX dehydratase deficiency" + "level of linker for activation of T-cells family member 2 in blood serum" "Stenotrophomonas maltophilia" "beta-adrenergic agonist" "level of glutathione S-transferase A1 in blood serum" @@ -11339,7 +11339,6 @@ "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_atelosteogenesis type III" "fibular hemimelia, unilateral" @@ -11347,6 +11346,7 @@ "Leukocytosis" "physical activity measurement" "Chlorocebus aethiops" + "Partial autosomal trisomy/tetrasomy" "obsolete_Becker nevus syndrome" "otitis externa" "Tessadori-Van Haaften neurodevelopmental syndrome 3" @@ -11361,8 +11361,8 @@ "level of LysM and putative peptidoglycan-binding domain-containing protein 4 in blood serum" "atrial septal defect 1" "LysoPE 18:1 measurement" - "appendix mucinous cystadenocarcinoma" "leucine-rich repeat-containing protein 4C measurement" + "appendix mucinous cystadenocarcinoma" "malate(2-)" "hypospadias-intellectual disability, Goldblatt type syndrome" "in situ HiC" @@ -11430,10 +11430,10 @@ "level of AP-4 complex subunit mu-1 in blood serum" "Lysosomal disease with restrictive cardiomyopathy" "spermatogenic failure 40" - "minosaminomycin measurement" - "toxoplasmosis" "probable dimethyladenosine transferase" + "toxoplasmosis" "ovarian clear cell cystadenocarcinoma" + "minosaminomycin measurement" "obsolete_atresia of urethra" "obsolete_axial vasculature" "7-methylguanine measurement" @@ -11492,8 +11492,8 @@ "lysinuric protein intolerance" "femtometer" "lithocholate sulfate (1) measurement" - "PCCL-3" "level of nuclear receptor-binding protein in blood serum" + "PCCL-3" "hereditary narcolepsy" "level of tyrosine-protein phosphatase non-receptor type substrate 1 in blood serum" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10" @@ -11550,13 +11550,13 @@ "citrin deficiency" "adipocyte plasma membrane-associated protein measurement" "FL.01 1/4 of flowers open stage" - "ovarian reserve" "scopolamine methobromide" "sleep-related hypermotor epilepsy" "mucinous neoplasm" + "ovarian reserve" + "arrhythmogenic right ventricular dysplasia 5" "horizontal septum" "obsolete_carpel" - "arrhythmogenic right ventricular dysplasia 5" "level of B melanoma antigen 2 in blood serum" "alpha thalassemia-intellectual disability syndrome type 1" "level of TP53-regulated inhibitor of apoptosis 1 in blood serum" @@ -11573,8 +11573,8 @@ "nucleotide measurement"@en "intellectual disability, X-linked 19" "obsolete_omodysplasia" - "myc-associated zinc finger protein measurement" "Krabbe disease due to saposin A deficiency" + "myc-associated zinc finger protein measurement" "uterus fundus" "defensin beta 118" "endoplasmic reticulum resident protein 44 measurement" @@ -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" @@ -11815,8 +11815,8 @@ "level of endothelial lipase in blood serum" "level of EP300-interacting inhibitor of differentiation 3 in blood serum" "laryngotracheoesophageal cleft" - "obsolete_partial deletion of chromosome 5" "bronchoconstriction" + "obsolete_partial deletion of chromosome 5" "level of Sterol ester (27:1/18:2) in blood serum" "anonychia-onychodystrophy syndrome" "photosensitive epilepsy" @@ -11871,8 +11871,8 @@ "1,2-dibromoethane" "reproductive system cancer" "obsolete_McKusick-Kaufman syndrome" - "UTP--glucose-1-phosphate uridylyltransferase measurement" "Jackson-Weiss syndrome" + "UTP--glucose-1-phosphate uridylyltransferase measurement" "2-ethylphenylsulfate measurement" "level of glutathione S-transferase A2 in blood serum" "methionine aminopeptidase 1D, mitochondrial" @@ -11925,8 +11925,8 @@ "isolated focal cortical dysplasia" "obsolete_partial duplication of chromosome 10" "optic disc measurement" - "erythema palmare hereditarium" "CD94-negative, Ly49CI-negative natural killer cell, mouse" + "erythema palmare hereditarium" "stria vascularis of cochlear duct" "ischemia reperfusion injury" "polyadenylate-binding protein 4 measurement" @@ -11942,9 +11942,9 @@ "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" "cerebrospinal fluid clusterin measurement" "GM17801" "level of high mobility group protein B3 in blood serum" @@ -11952,8 +11952,8 @@ "anterior horn disorder" "inactive dipeptidyl peptidase 10" "Therapeutic Procedure" - "embryonic esophagus" "pemphigus erythematosus" + "embryonic esophagus" "3-phosphoglycerate dehydrogenase deficiency" "level of transmembrane protein C16orf54 in blood serum" "Delayed ability to walk" @@ -11996,14 +11996,14 @@ "Microblepharon - ablephara" "long term hematopoietic stem cell" "ACHN" - "obsolete_multiple epiphyseal dysplasia type 4" "sphingomyeline C16:1 measurement" "mitochondrial complex III deficiency" - "obsolete_Seckel syndrome" + "obsolete_multiple epiphyseal dysplasia type 4" "occular toxicity"@en - "Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay" + "obsolete_Seckel syndrome" "obsolete_split hand, unilateral" "obsolete_maternally-inherited mitochondrial dystonia" + "Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay" "level of glutathione S-transferase kappa 1 in blood serum" "level of pro-thyrotropin-releasing hormone in blood serum" "salivary gland squamous cell carcinoma" @@ -12015,9 +12015,9 @@ "Bilateral lung agenesis" "hair defect with photosensitivity and intellectual disability syndrome" "congenital hereditary facial paralysis-variable hearing loss syndrome" + "obsolete_coloboma of choroid and retina" "lip disorder" "histone H1.10" - "obsolete_coloboma of choroid and retina" "Abnormal morphology of left ventricular trabeculae" "level of glucose-induced degradation protein 8 homolog in blood serum" "severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency" @@ -12074,12 +12074,12 @@ "ubiquitin carboxyl-terminal hydrolase 4" "obsolete_partial duplication of the long arm of chromosome 14" "obsolete_brachydactyly type A4" - "N-methylpipecolate measurement" "Illumina native qseq format" "level of protein FAM221A in blood serum" - "probable RNA-binding protein 46" + "N-methylpipecolate measurement" "GM17797" "software variation design" + "probable RNA-binding protein 46" "glutaminyl-peptide cyclotransferase" "RERF-LC-MS" "Pinus strobus" @@ -12130,8 +12130,8 @@ "mathematical ability" "obsolete_intestinal bulb" "guanosine measurement" - "energy expenditure measurement" "retinol-binding protein 4 measurement" + "energy expenditure measurement" "bleeding disorder, platelet-type, 24" "tiglylcarnitine (C5:1-DC) measurement" "level of galectin-related protein in blood serum" @@ -12270,9 +12270,9 @@ "obsolete_orofaciodigital syndrome type 12" "level of transcription factor MafG in blood serum" "level of ephrin type-A receptor 8 in blood serum" - "coagulation protein disease" "protoporphyria, erythropoietic, 2" "catenin alpha-3" + "coagulation protein disease" "trichodysplasia-amelogenesis imperfecta syndrome" "uncharacterized protein C19orf84" "small nuclear ribonucleoprotein Sm D2" @@ -12322,8 +12322,8 @@ "oleamide" "obsolete_spondylometaphyseal dysplasia, Schmidt type" "level of kelch-like protein 41 in blood serum" - "familial hyperaldosteronism type III" "Lassa virus Josiah" + "familial hyperaldosteronism type III" "level of adhesion G protein-coupled receptor B2 in blood serum" "ataxia-hypogonadism-choroidal dystrophy syndrome" "hypertension" @@ -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" @@ -12478,8 +12478,8 @@ "X-12680 measurement" "juvenile cataract-microcornea-renal glucosuria syndrome" "guard cell" - "WHCO6"@en "glucocorticoid therapy, response to" + "WHCO6"@en "respiratory disease biomarker" "BTB/POZ domain-containing protein KCTD15" "succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial" @@ -12490,8 +12490,8 @@ "secondary hypertension" "RNA polymerase-associated protein RTF1" "Abnormal ciliary motility" - "Craniosynostosis - fibular aplasia" "aortic valve disease" + "Craniosynostosis - fibular aplasia" "Kimura disease" "hydroxytetradecenoylcarnitine measurement" "cholesteryl ester 24:5 measurement" @@ -12561,17 +12561,17 @@ "obsolete_genetic infertility" "immunodeficiency 35" "acylphosphatase-1" - "level of transcription factor Sp6 in blood serum" "Laryngospasm" + "level of transcription factor Sp6 in blood serum" "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome" "4-allylphenol sulfate measurement" "level of glutathione S-transferase A4 in blood serum" "ribose-phosphate pyrophosphokinase 1" "psoriasis" "PR domain zinc finger protein 1 measurement" + "inherited sideroblastic anemia" "varicella, severe recurrent" "Siegler-Brewer-Carey syndrome" - "inherited sideroblastic anemia" "L-serine biosynthetic process" "neutrophil percentage of leukocytes" "obsolete_short-limb skeletal dysplasia with severe combined immunodeficiency" @@ -12594,9 +12594,9 @@ "adult neuronal ceroid lipofuscinosis" "level of gamma-crystallin A in blood serum" "Abnormal pyramidal sign" + "obsolete_congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome" "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F" "trait in response to abacavir" - "obsolete_congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome" "Heligmosomoides polygyrus" "obsolete_10x v2" "level of kinesin-like protein KIF3B in blood serum" @@ -12672,8 +12672,8 @@ "serine protease 57" "tumor necrosis factor receptor 1 measurement" "able to hear with hearing aids" - "X-13684 measurement" "stathmin-3" + "X-13684 measurement" "Hereditary cerebral hemorrhage with amyloidosis, Flemish type" "7-methylguanosine phosphate-specific 5'-nucleotidase" "vesicle transport through interaction with t-SNAREs homolog 1B" @@ -12700,10 +12700,10 @@ "petaloid toenail" "1-palmitoylglycerophosphoinositol measurement" "integumentary system disease"@en - "Nanogrid RNA-Seq" "Ras-related protein Rab-5C" "obsolete Sparse and thin eyebrow" "normal cell line" + "Nanogrid RNA-Seq" "fluoranthene" "Testicular Germ Cell Tumor" "CFPAC-1" @@ -12773,8 +12773,8 @@ "peripheral primitive neuroectodermal tumor" "deoxyhypusine hydroxylase" "level of MAM domain-containing protein 2 in blood serum" - "hypersensitivity vasculitis" "arthrogryposis due to muscular dystrophy" + "hypersensitivity vasculitis" "negative regulation of gastric acid secretion" "immunodeficiency 33" "obsolete_cystinosis" @@ -12798,11 +12798,11 @@ "plant population" "dendritic cell sarcoma" "cecum adenocarcinoma" - "obsolete_trisomy 8p" "Julidochromis transcriptus" "level of protein notum in blood serum" "Clostridium difficile" "Illumina native scarf format" + "obsolete_trisomy 8p" "ferulic acid 4-sulfate measurement" "GM17802" "time series design" @@ -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" @@ -12849,8 +12849,8 @@ "obsolete_Beckwith-Wiedemann syndrome due to 11p15 microdeletion" "congenital hypogonadotropic hypogonadism" "level of ketohexokinase in blood serum" - "Neolamprologus brichardi" "obsolete_distal monosomy 12q" + "Neolamprologus brichardi" "obsolete_partial monosomy of the short arm of chromosome X" "level of ubiquinone biosynthesis monooxygenase COQ6, mitochondrial in blood serum" "chromosome 3 disorder" @@ -12859,8 +12859,8 @@ "Woolly hair - hypotrichosis - everted lower lip - outstanding ears" "mature basophil" "skin aging measurement" - "mitochondrial complex 1 deficiency, nuclear type 37" "N-acetyl-aspartyl-glutamate (NAAG) measurement" + "mitochondrial complex 1 deficiency, nuclear type 37" "level of LIM domain-containing protein 1 in blood serum" "Penicillium italicum" "eukaryotic translation initiation factor 3 subunit J measurement" @@ -12926,10 +12926,10 @@ "copper atom" "cerebral cortex disorder" "valine metabolic process" - "cell adhesion molecule 4 measurement" "level of COMM domain-containing protein 8 in blood serum" "febrile seizures, familial" "early onset hypertension" + "cell adhesion molecule 4 measurement" "bursa of Fabricius" "obsolete_stigma" "obsolete autosomal dominant hereditary sensory and autonomic neuropathy" @@ -13007,9 +13007,9 @@ "obsolete sparse hair-short stature-skin anomalies syndrome" "survival probability" "response to darapladib" + "Look-Seq" "ALG3-congenital disorder of glycosylation" "mammary gland cell line" - "Look-Seq" "level of fibroblast growth factor 8 in blood serum" "extraembryonic cell" "fibroblast growth factor 9 measurement" @@ -13026,11 +13026,11 @@ "level of acyl-coenzyme A thioesterase 8 in blood serum" "Rare constitutional hemolytic anemia due to an enzyme disorder" "rectum" - "Illumina HiSeq 1000" "Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes" + "Illumina HiSeq 1000" + "photoreceptor cell layer thickness measurement" "obsolete_cranial ganglion" "Mumps virus infectious disease" - "photoreceptor cell layer thickness measurement" "phosphatidylcholine 38:2" "vitreous disorder" "level of sulfite oxidase, mitochondrial in blood serum" @@ -13066,8 +13066,8 @@ "Colonic diverticula" "mixed germ cell-sex cord-stromal tumor" "level of nociceptin in blood serum" - "Elevated circulating hepatic transaminase concentration" "Mesomelic dwarfism - cleft palate - camptodactyly" + "Elevated circulating hepatic transaminase concentration" "obsolete_CEMC1" "benign neoplasm of retina" "NCI-H810" @@ -13108,8 +13108,8 @@ "radioulnar synostosis-microcephaly-scoliosis syndrome" "Ectodermal dysplasia - blindness" "radiculopathy" - "HLA class II histocompatibility antigen, DM alpha chain measurement" "level of chondroitin sulfate N-acetylgalactosaminyltransferase 2 in blood serum" + "HLA class II histocompatibility antigen, DM alpha chain measurement" "CMK" "U-87 MG" "level of pantothenate kinase 3 in blood serum" @@ -13147,8 +13147,8 @@ "C-type lectin domain family 10 member A" "Pruritus" "eukaryotic translation initiation factor 4E type 2" - "Bm5 B cell" "Tetralogy of Fallot with absent pulmonary valve" + "Bm5 B cell" "level of putative protein-lysine deacylase ABHD14B in blood serum" "SCOPE-chip" "biphasic synovial sarcoma" @@ -13181,10 +13181,10 @@ "tetradecadienylcarnitine measurement" "level of adhesion G protein-coupled receptor B3 in blood serum" "leg dermatosis" - "DNA polymerase iota measurement" "giant axonal neuropathy" "level of gastric inhibitory polypeptide in blood serum" "volumetric brain MRI" + "DNA polymerase iota measurement" "intracranial hemangioma" "level of procollagen C-endopeptidase enhancer 2 in blood serum" "mucinous cystadenofibroma" @@ -13386,9 +13386,9 @@ "Hypogonadism - mitral valve prolapse - intellectual disability" "sterol carrier protein 2 deficiency" "obsolete_aorta" + "obsolete_succinyl-CoA:3-ketoacid CoA transferase deficiency" "Coronary-Subclavian Steal Syndrome" "hypopharyngeal sense organ primordium" - "obsolete_succinyl-CoA:3-ketoacid CoA transferase deficiency" "MARDI" "animal viral hepatitis" "Salvelinus alpinus" @@ -13403,10 +13403,10 @@ "cleft larynx, posterior" "Leydig cell hypoplasia due to partial LH resistance" "response to antineoplastic agent" + "1-aminocyclopropane-1-carboxylic acid meaaurement"@en "N-acetylgalactosamine-6-sulfatase" "pasteurellosis" "familial adenomatous polyposis 2" - "1-aminocyclopropane-1-carboxylic acid meaaurement"@en "cecum lymphoma" "periventricular grey zone" "Other immunodeficiency syndromes due to defects in innate immunity" @@ -13450,8 +13450,8 @@ "Digenome-seq" "lysine-specific demethylase 4C" "vitreous humor" - "obsolete_high bone mass osteogenesis imperfecta" "hemoglobinopathy" + "obsolete_high bone mass osteogenesis imperfecta" "level of ubiquitin-conjugating enzyme E2 Q1 in blood serum" "autosomal recessive lymphoproliferative disease" "Bilateral tonic-clonic seizure" @@ -13460,8 +13460,8 @@ "Radial dysplasia" "acute hemorrhagic leukoencephalitis" "CIRS-seq" - "2-methylcitrate(3-)" "obsolete_macrodactyly of toes" + "2-methylcitrate(3-)" "infantile neuronal ceroid lipofuscinosis" "receptor-type tyrosine-protein phosphatase eta" "lufenuron" @@ -13473,15 +13473,15 @@ "familial meningioma" "E3 ubiquitin-protein ligase pellino homolog 1" "GM17281" - "obsolete_brachydactyly type A2" - "obsolete_partial deletion of the short arm of chromosome 8" "benign neoplasm of maxillary sinus" "not rare" - "sialolithiasis" + "obsolete_brachydactyly type A2" "Illumina native fastq format" + "obsolete_partial deletion of the short arm of chromosome 8" + "sialolithiasis" "membrane protein FAM174B measurement" - "Linear IgA Dermatosis" "GM17803" + "Linear IgA Dermatosis" "embryonic midgut interstitial cell" "SBC-3" "level of kinesin-like protein KIF3C in blood serum" @@ -13498,12 +13498,12 @@ "flufenamic acid" "Brugada syndrome 8" "childhood parosteal osteosarcoma" - "male reproductive organ cancer" "oxidised LDL" + "male reproductive organ cancer" "obsolete_Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency" "dysostosis, Stanescu type" - "obsolete_mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis" "Gastrointestinal angiodysplasia" + "obsolete_mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis" "optic rim area measurement" "protein arginine N-methyltransferase 3 measurement" "chromosome 5Q14.3 deletion syndrome, distal" @@ -13641,12 +13641,12 @@ "obsolete_47,XYY syndrome" "level of doublesex- and mab-3-related transcription factor C2 in blood serum" "level of phytanoyl-CoA hydroxylase-interacting protein in blood serum" - "Böök syndrome" - "docking protein 1" "obsolete_true unicornuate uterus" "obsolete_Osteochondrosis" - "subaortic stenosis-short stature syndrome" + "Böök syndrome" + "docking protein 1" "mediator of RNA polymerase II transcription subunit 1 measurement" + "subaortic stenosis-short stature syndrome" "LP.15 fifteen leaves visible stage" "inositol hexakisphosphate kinase 2" "encounter with health service" @@ -13766,9 +13766,9 @@ "level of staphylococcal nuclease domain-containing protein 1 in blood serum" "level of BRO1 domain-containing protein BROX in blood serum" "odontogenic neoplasm" - "muscle cancer" "level of patatin-like phospholipase domain-containing protein 2 in blood serum" "obsolete_trigeminal ganglion" + "muscle cancer" "outer nuclear layer thickness measurement" "obsolete_Feingold syndrome type 2" "Xenopus laevis x Xenopus muelleri" @@ -13829,8 +13829,8 @@ "1-docosahexaenoyl-GPC (22:6) measurement" "nocodazole" "Primary dystonia, DYT13 type" - "enterococcus faecalis seropositivity" "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis" + "enterococcus faecalis seropositivity" "obsolete_meristem" "obsolete_dicarboxylic aminoaciduria" "level of protein dpy-30 in blood serum" @@ -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" @@ -13922,9 +13922,9 @@ "otorhinolaryngologic disease" "response to risperidone" "level of voltage-gated potassium channel subunit beta-3 in blood serum" + "lichen disease" "octadecenoylcarnitine measurement" "level of brain-specific angiogenesis inhibitor 1-associated protein 2 in blood serum" - "lichen disease" "Inflexible adherence to routines" "level of PDZ domain-containing protein GIPC1 in blood serum" "culture condition:dark-grown cell" @@ -13933,8 +13933,8 @@ "ovarian mucinous adenofibroma" "obsolete_dorsal pharyngeal muscle primordium" "CCL25 measurement" - "level of BTB/POZ domain-containing protein KCTD5 in blood serum" "hydroquinone sulfate measurement" + "level of BTB/POZ domain-containing protein KCTD5 in blood serum" "cholesterol in very small VLDL measurement " "core histone macro-H2A.1" "level of regenerating islet-derived protein 3-alpha in blood serum" @@ -13966,8 +13966,8 @@ "labyrinthitis" "Split hand - split foot - deafness" "IFAP syndrome 2" - "L-asparaginase" "level of butyrophilin subfamily 3 member A2 in blood serum" + "L-asparaginase" "interleukin-17 receptor B measurement" "eubacterium seropositivity" "obsolete_nephrogenic diabetes insipidus" @@ -13987,8 +13987,8 @@ "level of protein EURL in blood serum" "IGF-like family receptor 1 measurement" "level of sperm acrosome membrane-associated protein 1 in blood serum" - "choroid plexus papilloma" "interleukin-10 receptor subunit alpha measurement" + "choroid plexus papilloma" "hypercholesterolemia, familial, 1" "inherited Creutzfeldt-Jakob disease" "level of sulfiredoxin-1 in blood serum" @@ -14052,17 +14052,17 @@ "YKL40 measurement" "Unilateral ptosis" "obsolete_spondyloepiphyseal dysplasia, Reardon type" - "protein phosphatase 1 regulatory subunit 3B" "Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies" + "protein phosphatase 1 regulatory subunit 3B" "myotubularin-related protein 6" "palmitoyl-oleoyl-glycerol (16:0/18:1) [2] measurement" "CB491" "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" @@ -14160,8 +14160,8 @@ "Calf muscle hypertrophy" "famotidine" "hatipoglu immunodeficiency syndrome" - "obsolete_occipital pachygyria and polymicrogyria" "dihydropyrimidinuria" + "obsolete_occipital pachygyria and polymicrogyria" "partial duplication of the long arm of chromosome 10" "autosomal recessive ataxia due to PEX10 deficiency" "hypertensive encephalopathy" @@ -14191,8 +14191,8 @@ "Abnormality of upper limb joint" "trait in response to paclitaxel" "TOM1-like protein 1" - "Rare genetic female infertility" "benign neoplasm of iris" + "Rare genetic female infertility" "level of protein mago nashi homolog 2 in blood serum" "RAPD" "craniofacial development protein 1" @@ -14223,9 +14223,9 @@ "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" "gangrene" "function" - "Microphthalmia - brain atrophy" "hepatic stellate cell" "nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis" + "Microphthalmia - brain atrophy" "Streptomyces venezuelae" "GM17794" "gastroenteritis" @@ -14250,9 +14250,9 @@ "short rib dysplasia" "benign tumor of palpebral epidermis" "Armfield syndrome" - "latent-transforming growth factor beta-binding protein 4 measurement" "Aptenodytes patagonicus" "level of hydroxymethylglutaryl-CoA synthase, mitochondrial in blood serum" + "latent-transforming growth factor beta-binding protein 4 measurement" "Carney complex - trismus - pseudocamptodactyly syndrome" "immunodeficiency 96" "Papillary Tumor of the Pineal Region" @@ -14281,8 +14281,8 @@ "vitelliform macular dystrophy 3" "Ageusia" "mandibuloacral dysplasia progeroid syndrome" - "Micromelic dwarfism, Fryns type" "Chlamydotis undulata" + "Micromelic dwarfism, Fryns type" "obsolete_Frontootopalatodigital syndrome" "obsolete_oocyte" "mitochondrial DNA depletion syndrome 18" @@ -14290,14 +14290,14 @@ "inosine measurement"@en "GATA1-Related X-Linked Cytopenia" "Reduced consciousness" - "Testicular Large Cell Calcifying Sertoli Cell Tumor" "ephrin type-A receptor 1 measurement" "killer cell immunoglobulin-like receptor 2DS2" "level of cyclin-dependent kinase 4 inhibitor C in blood serum" "Opitz G/BBB syndrome" + "Testicular Large Cell Calcifying Sertoli Cell Tumor" "transcription factor TFIIIB component B''" - "otospondylomegaepiphyseal dysplasia, autosomal dominant" "copy number assessment" + "otospondylomegaepiphyseal dysplasia, autosomal dominant" "hyperlipoproteinemia" "C4BP measurement" "testosterone measurement" @@ -14325,9 +14325,9 @@ "retinal arterial tortuosity" "oligoastrocytic tumor" "abnormal vaginal discharge itching" + "adult-onset Still's disease" "autosomal recessive non-syndromic intellectual disability" "RKO" - "adult-onset Still's disease" "level of WAP four-disulfide core domain protein 3 in blood serum" "GM19240" "helicoid peripapillary chorioretinal degeneration" @@ -14342,21 +14342,21 @@ "Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation" "vaginal germ cell malignant tumor" "level of calcium uptake protein 3, mitochondrial in blood serum" - "obsolete_brachydactyly type A7" "membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 measurement" "interleukin-15" + "obsolete_brachydactyly type A7" "Heliconius erato etylus x Heliconius himera" "skin appendage carcinoma" "Charlie M syndrome" "fetal trimethadione syndrome" "macrodactyly of toes, bilateral" "N-arachidonoyl taurine measurement" - "thymidine kinase, cytosolic measurement" "aggressive NK-cell leukemia" "continuous spikes and waves during sleep" + "thymidine kinase, cytosolic measurement" "silver-Russell syndrome due to an imprinting defect of 11p15" - "level of dynein axonemal intermediate chain 1 in blood serum" "Acute hepatic porphyria" + "level of dynein axonemal intermediate chain 1 in blood serum" "obsolete_Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys" "level of phytanoyl-CoA hydroxylase-interacting protein-like in blood serum" "level of adipocyte plasma membrane-associated protein in blood serum" @@ -14372,8 +14372,8 @@ "Epidermal thickening" "Benign Ovarian Surface Epithelial-Stromal Tumor" "GlcNAc sulfate conjugate of C21H34O2 steroid measurement" - "free cholesterol to total lipids in very large HDL percentage " "protein argonaute-1 measurement" + "free cholesterol to total lipids in very large HDL percentage " "Pelvic kidney" "epilepsy, idiopathic generalized, susceptibility to, 8" "McLeod neuroacanthocytosis syndrome" @@ -14450,10 +14450,10 @@ "chromosome 5 disorder" "level of oxidized purine nucleoside triphosphate hydrolase in blood serum" "nectin-4 measurement" - "X-linked intellectual disability - dysmorphism - cerebral atrophy" "trochlear nerve neoplasm" - "obsolete_Pelizaeus-Merzbacher disease, transitional form" + "X-linked intellectual disability - dysmorphism - cerebral atrophy" "sprouty-related, EVH1 domain-containing protein 1" + "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" @@ -14501,8 +14501,8 @@ "glycogen storage disease due to muscle and heart glycogen synthase deficiency" "HMG CoA reductase inhibitor use measurement" "embryonic stage 8" - "Suarez-Stickler syndrome" "level of transcriptional regulator Kaiso in blood serum" + "Suarez-Stickler syndrome" "Sphingomyelin (d18:2/24:1, d18:1/24:2) measurement" "Congenital chronic diarrhea with protein-losing enteropathy" "Reduced factor XII activity" @@ -14719,12 +14719,12 @@ "GM17148" "Talipes" "obsolete_Partington syndrome" - "macular dystrophy with or without cone dysfunction" "obsolete_familial thrombocytosis" + "macular dystrophy with or without cone dysfunction" "Kidney Cyst" - "high content screen of cells in a gene deletion library" "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" @@ -14850,8 +14850,8 @@ "pregnancy-specific beta-1-glycoprotein 4 measurement" "Snijders Blok-Campeau syndrome"@en "azinphos methyl measurement"@en - "A2058" "UL16-binding protein 1" + "A2058" "paraneoplastic antigen Ma2" "Gorilla gorilla gorilla" "obsolete_Congenital isolated ACTH deficiency" @@ -14861,8 +14861,8 @@ "leukocyte immunoglobulin-like receptor subfamily A member 2" "mbd5 associated neurodevelopmental disorder" "mitochondrial DNA depletion syndrome 1" - "small ribosomal subunit protein eS1" "neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities" + "small ribosomal subunit protein eS1" "paranoid personality disorder" "viral hemorrhagic fever" "angioedema" @@ -14968,8 +14968,8 @@ "myofibrillar myopathy 4" "melanoma, cutaneous malignant, susceptibility to, 2" "obsolete_hypertelorism-preauricular sinus-punctual pits-deafness syndrome" - "Epithelioid Cell Uveal Melanoma" "obsolete_autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" + "Epithelioid Cell Uveal Melanoma" "obsolete_hereditary hypophosphatemic rickets with hypercalciuria" "level of synaptojanin-2-binding protein in blood serum" "thyroid hormone metabolism, abnormal" @@ -14979,8 +14979,8 @@ "brain density measurement"@en "Skeletal dysplasia" "level of fibroblast growth factor receptor substrate 2 in blood serum" - "immune system process" "Testicular Leydig Cell Tumor" + "immune system process" "infectious embryofetopathy" "obsolete precancerous lesion of palpebral epidermis" "Parachordoma" @@ -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_genochondromatosis type 2" "obsolete_hereditary painful callosities" + "obsolete_genochondromatosis type 2" "SCH" "protein ABHD14A" "N-carbamoyl-beta-alanine measurement" @@ -15087,12 +15087,12 @@ "systemic mycosis" "type 1 diabetes nephropathy" "mirror movements 2" - "autosomal dominant pure spastic paraplegia" "switch-associated protein 70 measurement" + "autosomal dominant pure spastic paraplegia" + "extracellular matrix protein 1 measurement" "Alexandrium tamarense" "adult central nervous system germinoma" "KYSE30" - "extracellular matrix protein 1 measurement" "angiosarcoma of the scalp" "obsolete_stromal cell of lamina propria of small intestine" "caryopsis" @@ -15179,12 +15179,12 @@ "malignant phyllodes tumor" "Patski" "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" @@ -15239,8 +15239,8 @@ "enzyme inhibitor" "stem elongation stage" "obsolete_Perrault syndrome" - "combined oxidative phosphorylation deficiency 33" "serine/threonine-protein kinase N1" + "combined oxidative phosphorylation deficiency 33" "post-infectious neuralgia" "arsenite(3-)" "level of tripartite motif-containing protein 54 in blood serum" @@ -15255,11 +15255,11 @@ "ceftriaxone" "ACCES syndrome" "obsolete_cobblestone lissencephaly without muscular or ocular involvement" - "potassium bicarbonate measurement" "bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase" "WAP four-disulfide core domain protein 10A" - "H2.35" + "potassium bicarbonate measurement" "protein mono-ADP-ribosyltransferase PARP11" + "H2.35" "keratin, type I cuticular Ha4" "intellectual disability, autosomal recessive 58" "T-cell surface glycoprotein CD1c" @@ -15312,9 +15312,9 @@ "X-23787 measurement" "obsolete_SHOX-related short stature" "obsolete_adrenal cortex" + "Progéria - short stature - pigmented nevi" "myc target protein 1 measurement" "DCN1-like protein 2" - "Progéria - short stature - pigmented nevi" "obsolete_carnitine palmitoyl transferase II deficiency, neonatal form" "disorder of metabolite absorption and transport" "mastectomy"@en @@ -15367,10 +15367,10 @@ "ornithine transcarbamylase, mitochondrial" "paroxysmal extreme pain disorder" "epidural abscess" + "Flavobacteriaceae Infections" "7-methylpyrido34-cpsoralen measurement" "hyper-IgM syndrome type 2" "obesity due to SIM1 deficiency" - "Flavobacteriaceae Infections" "complement C3B measurement" "Double inlet left ventricle" "1-arachidonoyl-GPE (20:4n6) measurement" @@ -15378,13 +15378,13 @@ "level of secretory carrier-associated membrane protein 5 in blood serum" "gastric outlet obstruction" "histone acetyltransferase kat6a measurement" + "obsolete_maternally-inherited diabetes and deafness" "level of heat shock protein HSP 90-alpha in blood serum" "level of proteasome subunit beta type-3 in blood serum" - "obsolete_maternally-inherited diabetes and deafness" + "fibronectin seropositivity" "obsolete cytoplasmic part" "testis-expressed protein 29" "response to diisocyanate" - "fibronectin seropositivity" "Ras-related protein Ral-A" "homeobox protein Mohawk" "T cell immunoreceptor with Ig and ITIM domains" @@ -15473,10 +15473,10 @@ "level of multivesicular body subunit 12B in blood serum" "triglycerides to total lipids in chylomicrons and extremely large VLDL percentage " "phagocytic cell dysfunction" - "protein BTG1" "Cystoid macular dystrophy" - "microarray wash station" + "protein BTG1" "Nabothian Cyst" + "microarray wash station" "pimelylcarnitine measurement" "obsolete deafness-onychodystrophy syndrome" "nuclear receptor-interacting protein 3" @@ -15512,8 +15512,8 @@ "liver disease biomarker" "intestinal polyp" "cation-dependent mannose-6-phosphate receptor measurement" - "insect visual primordium" "obsolete_benign familial nocturnal alternating hemiplegia of childhood" + "insect visual primordium" "cubilin measurement" "Rhodopseudomonas palustris" "Abnormality of the kidney" @@ -15566,8 +15566,8 @@ "acquired factor VII deficiency" "level of roundabout homolog 1 in blood serum" "norfloxacin" - "Brachydactyly - nystagmus - cerebellar ataxia" "obsolete_glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form" + "Brachydactyly - nystagmus - cerebellar ataxia" "atypical ductal hyperplasia" "level of protein FRG1 in blood serum" "Human adenovirus 5" @@ -15825,8 +15825,8 @@ "neoplasm of temporal lobe" "cotyledon abaxial epidermis" "autosomal recessive complex spastic paraplegia" - "Wieacker-Wolff syndrome (spectrum)" "small intestine Peyer's patch T cell" + "Wieacker-Wolff syndrome (spectrum)" "Kasumi2" "Fc receptor-like protein 3 measurement" "killer cell immunoglobulin-like receptor 3DL1" @@ -15892,8 +15892,8 @@ "Perlman syndrome" "N-carbamoyl-beta-alanine" "month" - "linear skin defects with multiple congenital anomalies" "neuromuscular disease" + "linear skin defects with multiple congenital anomalies" "Congenital miosis" "obsolete_intellectual disability" "dilatation of the sinus of Valsalva" @@ -15939,9 +15939,9 @@ "obsolete_VACTERL with hydrocephalus" "virus seropositivity" "rostral middle frontal gyrus volume measurement"@en - "erucic acid measurement" "Joubert syndrome and related disorders" "gamma-Glu-Gln" + "erucic acid measurement" "serine/threonine-protein kinase N2" "acute salpingitis" "C-type lectin domain family 2 member A" @@ -16077,8 +16077,8 @@ "level of interferon-inducible protein AIM2 in blood serum" "benign neoplasm of pleura" "obsolete_hyperimmunoglobulinemia D with periodic fever" - "a disintegrin and metalloproteinase with thrombospondin motifs 3 measurement" "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12" + "a disintegrin and metalloproteinase with thrombospondin motifs 3 measurement" "T3a tumor stage" "organelle envelope" "phyllid" @@ -16171,12 +16171,12 @@ "Hb Bart's hydrops fetalis" "CMRF35-like molecule 8" "intellectual developmental disorder with macrocephaly, seizures, and speech delay" - "adenylate kinase 4, mitochondrial" - "level of aminopeptidase N in blood serum" "alpha-CEHC glucuronide measurement" + "adenylate kinase 4, mitochondrial" "cancer cell line sample" - "muscular pseudohypertrophy-hypothyroidism syndrome" + "level of aminopeptidase N in blood serum" "syntactic complexity measurement" + "muscular pseudohypertrophy-hypothyroidism syndrome" "serous neoplasm" "basophilic promyelocyte" "anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome" @@ -16204,8 +16204,8 @@ "ubiquitin thioesterase otulin" "Lu130" "obsolete_pachyonychia congenita" - "obsolete Birt-Hogg-Dube syndrome" "NCI-H146" + "obsolete Birt-Hogg-Dube syndrome" "essential iris atrophy" "Yersinia pseudotuberculosis" "ChIP-chip by tiling array" @@ -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" @@ -16347,10 +16347,10 @@ "Klatskin's tumor" "salivary gland cancer" "level of aspartate--tRNA ligase, mitochondrial in blood serum" - "sudden hearing loss disorder" "neoplasm of pericardium" - "tibial artery" + "sudden hearing loss disorder" "non-suppurative otitis media" + "tibial artery" "drug misuse" "galactoside 34-L-fucosyltransferase measurement" "putative phospholipase B-like 2" @@ -16385,8 +16385,8 @@ "ocular motor apraxia, Cogan type" "vessel" "pycnodysostosis" - "gastric non-cardia carcinoma" "periodic limb movement disorder" + "gastric non-cardia carcinoma" "brachydactylous dwarfism, Mseleni type" "Toe syndactyly" "sodium channel subunit beta-2" @@ -16419,8 +16419,8 @@ "X-25265 measurement" "Acute hepatic failure" "level of Phosphatidylcholine (O-18:1_20:3) in blood serum" - "obsolete_Hurler syndrome" "spinocerebellar ataxia type 31" + "obsolete_Hurler syndrome" "trigonocephaly 1" "level of agouti-signaling protein in blood serum" "level of proteasome activator complex subunit 2 in blood serum" @@ -16479,8 +16479,8 @@ "conductive hearing loss disorder" "Teleopsis quinqueguttata" "Candidatus Phytoplasma asteris" - "tRNA-splicing endonuclease subunit Sen15" "hypothalamic neoplasm" + "tRNA-splicing endonuclease subunit Sen15" "Cerebellar cyst" "trichorhinophalangeal syndrome, type III" "phosphatidylcholine O-40:5" @@ -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" @@ -16588,18 +16588,18 @@ "uncharacterized protein C1orf198" "obsolete_isovaleric acidemia" "Eurotium chevalieri" - "obsolete_galactosemia" "HL-60" + "obsolete_galactosemia" "COPRO-seq" "thiazide-induced hyponatremia" "3-methylcytidine measurement" "kynurenic acid measurement"@en "ES-Bruce4" "heterogeneous nuclear ribonucleoproteins C1/C2" - "Sneddon syndrome" "Nonepidermolytic palmoplantar hyperkeratosis" "magnesium-dependent phosphatase 1" "carboxylesterase 3" + "Sneddon syndrome" "overhydrated hereditary stomatocytosis" "Paramecium tetraurelia" "C-type lectin domain family 2 member D" @@ -16696,9 +16696,9 @@ "psychotic symptoms" "trait in response to terbinafine" "obsolete_aldosterone-producing adenoma with seizures and neurological abnormalities" - "alpha-2-macroglobulin measurement" "corpus allatum" "level of meprin A subunit alpha in blood serum" + "alpha-2-macroglobulin measurement" "qualitative or quantitative defects of telethonin" "cystathionine beta-synthase measurement" "recessive dystrophic epidermolysis bullosa" @@ -16707,11 +16707,11 @@ "Hennekam-Beemer syndrome" "anophthalmia/microphthalmia-esophageal atresia syndrome" "cholecystolithiasis" - "glutathione S-transferase Mu 1 measurement" "neuronal ceroid lipofuscinosis 5" - "X-23997 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" "obsolete_partial duplication of the long arm of chromosome 4" @@ -16722,10 +16722,10 @@ "Rho-associated protein kinase 2" "obsolete_Tolosa-Hunt syndrome" "X-linked spinocerebellar ataxia type 4" - "Seckel syndrome 8" "obsolete_Tay-Sachs disease" - "Gastrostomy tube feeding in infancy" + "Seckel syndrome 8" "obsolete_auriculocondylar syndrome" + "Gastrostomy tube feeding in infancy" "neuronopathy, distal hereditary motor, type 5" "muscle fiber cross-sectional area measurement" "Weiss grade" @@ -16746,9 +16746,9 @@ "Junctional epidermolysis bullosa - pyloric atresia" "obsolete_Cornelia de Lange syndrome" "Absent vas deferens" - "tuftelin-interacting protein 11 measurement" "PhIP-seq" "childhood malignant melanoma" + "tuftelin-interacting protein 11 measurement" "obsolete_immunoglobulin heavy chain deficiency" "level of GDP-fucose protein O-fucosyltransferase 1 in blood serum" "neuron projection" @@ -16787,8 +16787,8 @@ "obsolete_multiple synostoses syndrome" "phage seropositivity" "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability" - "conjunctival vascular disorder" "superior frontal gyrus volume measurement"@en + "conjunctival vascular disorder" "nervous system developmental tissue" "total cholesterol change measurement" "hearing loss, mixed conductive-sensorineural" @@ -16830,8 +16830,8 @@ "Abnormal vertebral morphology" "obsolete_amelogenesis imperfecta" "level of serpin A9 in blood serum" - "level of glucoside xylosyltransferase 1 in blood serum" "X-11470 measurement" + "level of glucoside xylosyltransferase 1 in blood serum" "obsolete_Menkes disease" "Ewing sarcoma" "cysteine--tRNA ligase, cytoplasmic measurement" @@ -16852,8 +16852,8 @@ "cytochrome c oxidase subunit 5A, mitochondrial" "level of Rho GTPase-activating protein 25 in blood serum" "endoplasmic reticulum resident protein 29 measurement" - "vascular smooth muscle hypertrophy" "bone benign neoplasm" + "vascular smooth muscle hypertrophy" "nucleus of medial longitudinal fasciculus of medulla" "level of Ceramide (d42:1) in blood serum" "high content screening stage" @@ -16916,8 +16916,8 @@ "disorder of methionine catabolism" "obsolete_ChIP-seq by high throughput sequencing" "level of eukaryotic translation initiation factor 4E-binding protein 1 in blood serum" - "obsolete_multifocal pattern dystrophy simulating fundus flavimaculatus" "folic acid metabolic process" + "obsolete_multifocal pattern dystrophy simulating fundus flavimaculatus" "level of myelin-oligodendrocyte glycoprotein in blood serum" "childhood central nervous system germ cell tumor" "testicular non-seminomatous germ cell cancer" @@ -16944,8 +16944,8 @@ "chlorosome" "epilepsy with generalized tonic-clonic seizures" "Reticulocyte Hemoglobin Distribution Width" - "neurocan core protein" "level of inositol monophosphatase 1 in blood serum" + "neurocan core protein" "lateral ethmoid" "tumor grade 3, general grading system" "complement C3D fragment measurement" @@ -16956,8 +16956,8 @@ "stomach disease" "LysoPC 16:1 measurement" "autosomal dominant Ehlers-Danlos syndrome, vascular type" - "level of protein rogdi in blood serum" "chromosome 19q13.11 deletion syndrome" + "level of protein rogdi in blood serum" "thyroid function" "trichoblastoma" "cerebral small vessel disease" @@ -16983,8 +16983,8 @@ "growth retardation-mild developmental delay-chronic hepatitis syndrome" "lysophosphatidylcholine 18:1 measurement"@en "androsterone sulfate" - "oculodentodigital dysplasia" "level of sarcospan in blood serum" + "oculodentodigital dysplasia" "histone acetyltransferase KAT2A" "malignant myoepithelioma" "restriction digest" @@ -17029,10 +17029,10 @@ "myxoid chondrosarcoma" "adenine nucleotide translocase lysine N-methyltransferase" "Autosomal dominant Charcot-Marie-Tooth disease type 2A2" + "ubiquitin measurement" "galectin-3 measurement" "Right atrial enlargement" "generalized resistance to thyroid hormone" - "ubiquitin measurement" "mothers against decapentaplegic homolog 3 measurement" "2-O-methylascorbic acid measurement" "alpha-glycerophosphocholine measurement" @@ -17055,9 +17055,9 @@ "intracranial germ cell tumor"@en "xanthomatosis" "hilar portion of hepatic duct" - "X-11845 measurement" "chromosome 19 disorder" "obsolete_pharyngeal pouch 5" + "X-11845 measurement" "congenital mitral malformation" "central nervous system calcification-deafness-tubular acidosis-anemia syndrome" "cholesteryl ester 22:4 measurement" @@ -17083,8 +17083,8 @@ "peripheral plasma membrane protein CASK" "obsolete_congenital sucrase-isomaltase deficiency" "maleate(1-)" - "obsolete_hereditary sensory and autonomic neuropathy type 7" "Vascular skin abnormality" + "obsolete_hereditary sensory and autonomic neuropathy type 7" "interleukin-31 receptor subunit alpha measurement" "GTP cyclohydrolase 1 feedback regulatory protein" "mesenchymal tumor of small intestine" @@ -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" - "Short stature - deafness - neutrophil dysfunction - dysmorphism" "pediatric lymphoma" + "Short stature - deafness - neutrophil dysfunction - dysmorphism" "Genetic dermis elastic tissue disorder" - "Primary immunodeficiency due to a defect in innate immunity" "RNA assay" + "Primary immunodeficiency due to a defect in innate immunity" "protein Wnt-5a" "pancreatic adenosquamous carcinoma" "congenital disorder of glycosylation with defective fucosylation" @@ -17230,9 +17230,9 @@ "sarilumab"@en "NA8-MEL cells" "level of homeobox protein HMX3 in blood serum" + "human herpesvirus 7 seropositivity" "ephrin-A2 measurement" "myopia 28, autosomal recessive" - "human herpesvirus 7 seropositivity" "obsolete primary myoclonus" "Paranasal Sinus Schneiderian Papilloma" "protocadherin-12" @@ -17269,9 +17269,9 @@ "cystic fibrosis associated meconium ileus" "obsolete_osteoglophonic dwarfism" "melanoregulin" + "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2C" "Kashin-Beck disease" "obsolete_self-healing collodion baby" - "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2C" "hearing loss, autosomal dominant 74" "lactose measurement"@en "level of collagen alpha-3(IX) chain in blood serum" @@ -17328,10 +17328,10 @@ "obsolete_humero-ulnar synostosis" "obsolete_posterior urethral valve" "X-17654 measurement" + "somatostatinoma" "Haemophilus influenzae R2866" "C3ABR" "BRISC complex subunit Abraxas 2" - "somatostatinoma" "ABCD syndrome" "obsolete_progeria-associated arthropathy" "grade III meningioma" @@ -17508,8 +17508,8 @@ "Hyperpituitarism" "mature T cell" "VMRC-RCW cell" - "obsolete_cardiospondylocarpofacial syndrome" "4-methoxyphenol sulfate measurement" + "obsolete_cardiospondylocarpofacial syndrome" "lateral line ganglion" "obsolete_congenital microcoria" "animal allergen seropositivity" @@ -17517,8 +17517,8 @@ "obsolete_anterior lateral line system" "establishment of localization in cell" "red blood cell density measurement" - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" "Charlevoix-Saguenay spastic ataxia" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" "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" "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" "Joubert syndrome with renal defect" - "newborn respiratory distress syndrome" + "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" @@ -17654,10 +17654,10 @@ "N-acetyldehydroanonaine measurement" "heterogeneous nuclear ribonucleoprotein R" "airway submucosal gland"@en - "lacrimal apparatus disease" "Autosomal dominant nail dysplasia" - "level of zona pellucida sperm-binding protein 4 in blood serum" + "lacrimal apparatus disease" "subdural empyema" + "level of zona pellucida sperm-binding protein 4 in blood serum" "autosomal recessive limb-girdle muscular dystrophy type 2N" "obsolete_autosomal recessive polycystic kidney disease" "sialic acid-binding Ig-like lectin 9 measurement" @@ -17665,9 +17665,9 @@ "equine infectious anemia" "tetradecadienoate (14:2) measurement" "obsolete_percent oxygen" + "Emery-Nelson syndrome" "C-type lectin domain family 12 member A" "metopic ridging-ptosis-facial dysmorphism syndrome" - "Emery-Nelson syndrome" "connective tissue" "level of prolactin-inducible protein in blood serum" "level of frizzled-7 in blood serum" @@ -17716,8 +17716,8 @@ "nose" "Neurofibromatosis type 1 due to NF1mutation or intragenic deletion" "uterine benign neoplasm" - "Lacrimal Gland Adenoid Cystic Carcinoma" "level of Sterol ester (27:1/14:0) in blood serum" + "Lacrimal Gland Adenoid Cystic Carcinoma" "level of cilia- and flagella-associated protein 298 (human) in blood serum" "obsolete_Lynch syndrome" "level of transmembrane protein 70, mitochondrial in blood serum" @@ -17759,9 +17759,9 @@ "Intellectual disability" "Abnormality of the urinary system physiology" "obsolete_tuber" - "obsolete_Pai syndrome" "carnitine measurement"@en "immature platelet measurement" + "obsolete_Pai syndrome" "nasopharynx" "malignant germ cell tumor of ovary" "Laryngeal cleft" @@ -17839,8 +17839,8 @@ "X-25267 measurement" "obsolete_ATTRV122I amyloidosis" "4,5-dianilinophthalimide" - "CLN11 disease" "tibial muscular dystrophy" + "CLN11 disease" "obsolete branchial arch or oral-acral syndrome" "Pointed chin" "obsolete_MAN1B1-CDG" @@ -17917,8 +17917,8 @@ "acquired hypertrophic pyloric stenosis" "obsolete inherited cardiac tumor" "cancer" - "krebs 2 carcinoma" "somite 13" + "krebs 2 carcinoma" "level of transmembrane emp24 domain-containing protein 2 in blood serum" "level of variable charge X-linked protein 3 in blood serum" "age at initiation of hormone replacement therapy"@en @@ -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" @@ -17974,8 +17974,8 @@ "obsolete COACH syndrome 1" "obsolete_Isolated succinate-CoQ reductase deficiency" "malonic acid measurement" - "schizencephaly" "obsolete_Amish infantile epilepsy syndrome" + "schizencephaly" "Campylobacter jejuni subsp. jejuni NCTC 11168" "Sphingofungin B" "MPDU1-congenital disorder of glycosylation" @@ -18024,10 +18024,10 @@ "LRP5-related primary osteoporosis" "Trichoderma reesei QM6a" "CS57850" - "level of small RNA 2'-O-methyltransferase in blood serum" "obsolete_short stature, Brussels type" - "bilateral microtia-deafness-cleft palate syndrome" + "level of small RNA 2'-O-methyltransferase in blood serum" "obsolete_complement component 3 deficiency" + "bilateral microtia-deafness-cleft palate syndrome" "phakomatosis pigmentovascularis" "Lilium regale" "Alar cartilages hypoplasia - coloboma - telecanthus" @@ -18097,16 +18097,16 @@ "C14:0 sphingomyelin measurement" "GRO-CAP" "anti-merkel cell virus antibody measurement"@en - "Me67 cells" "stricture" "Abnormality on pulmonary function testing" + "Me67 cells" "2-hydroxybutyrate measurement" "omeprazole" "chemotherapy-induced hypertension" "apolipoprotein M measurement" "obsolete_chondrocranium cartilage" - "autosomal dominant nonsyndromic hearing loss 40" "qualitative or quantitative defects of nebulin" + "autosomal dominant nonsyndromic hearing loss 40" "autosomal recessive cutis laxa type 2A" "Pallor" "maternal uniparental disomy of chromosome X" @@ -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" - "transmembrane protein 132A" "N-acetyltaurine measurement"@en + "transmembrane protein 132A" "SHAPE-MaP" "subthalamic nucleus" "ulna fracture" @@ -18346,8 +18346,8 @@ "X-25433 measurement" "ethmoid sinusitis" "level of protein IMPACT in blood serum" - "obsolete_familial benign copper deficiency" "split hand or/and split foot malformation" + "obsolete_familial benign copper deficiency" "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" @@ -18538,14 +18538,14 @@ "neurodegeneration and seizures due to copper transport defect" "GM15216" "docosapentaenoate n3 DPA; 22:5n3 measurement" - "low density lipoprotein triglyceride measurement" "chromosome 1q41-q42 deletion syndrome" + "low density lipoprotein triglyceride measurement" "Acanthamoeba polyphaga mimivirus" "Cementoma" "deltoid" "collectin-10" - "acidosis" "interferon alpha/beta receptor 1 measurement" + "acidosis" "spermatogenic failure 20" "exudative vitreoretinopathy" "short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis" @@ -18606,8 +18606,8 @@ "HG03108" "FL-cDNA" "glypican-5 measurement" - "radicle emergence" "amino acid transmembrane transporter activity" + "radicle emergence" "EEG abnormality" "hepatic failure, early-onset, and neurologic disorder due to cytochrome c oxidase deficiency" "level of disintegrin and metalloproteinase domain-containing protein 22 in blood serum" @@ -18676,9 +18676,9 @@ "Waardenburg syndrome type 3" "Premature thelarche" "Impaired thrombin-induced platelet aggregation" + "catenin alpha-2 measurement" "level of histatin-1 in blood serum" "level of ATPase GET3 in blood serum" - "catenin alpha-2 measurement" "obsolete_infantile glycine encephalopathy" "PI-PLC X domain-containing protein 3" "C3A" @@ -18716,8 +18716,8 @@ "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" @@ -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" @@ -18891,9 +18891,9 @@ "obsolete_syngnathia multiple anomalies" "level of ERO1-like protein alpha in blood serum" "Aspergillus versicolor" + "Parotid Gland Adenoid Cystic Carcinoma" "response to norepinephrine-dopamine reuptake inhibitor" "ELKS/Rab6-interacting/CAST family member 1" - "Parotid Gland Adenoid Cystic Carcinoma" "level of bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 in blood serum" "dopamine 3-O-sulfate measurement" "intracellular organelle" @@ -18902,8 +18902,8 @@ "labial sensory complex primordium" "C-type lectin domain family 4 member D" "RWPE1" - "congenital disorder of glycosylation type II" "obsolete_fatal post-viral neurodegenerative disorder" + "congenital disorder of glycosylation type II" "Partial congenital cataract" "Cerebral disease with cataract" "response to flupirtine" @@ -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" + "cholesterol esters in medium LDL measurement" "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" @@ -19055,12 +19055,13 @@ "oocyte/zygote/embryo maturation arrest 17" "phosphatidylcholine acyl-alkyl C42:3 measurement" "autosomal dominant myoglobinuria" - "N-hexadecanoylpyrrolidine measurement" "Geobacillus sp. E263" + "N-hexadecanoylpyrrolidine measurement" "childhood testicular mixed germ cell cancer" - "papillary adenoma" "glycoprotein endo-alpha-1,2-mannosidase" + "papillary adenoma" "transcription initiation factor TFIID subunit 10" + "tetradecanedioate measurement" "lung capillary endothelial cell"@en "sparganosis" "level of protein WFDC13 in blood serum" @@ -19069,7 +19070,6 @@ "CD115-positive monocyte OR common dendritic progenitor" "leucine-rich repeat-containing protein 15" "level of zona pellucida-binding protein 2 in blood serum" - "tetradecanedioate measurement" "CROP-Seq" "developmental and epileptic encephalopathy, 9" "X-25503 measurement" @@ -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" @@ -19117,10 +19117,10 @@ "erythroid lineage cell" "Autosomal recessive spastic paraplegia type 46" "mitochondrial complex 1 deficiency, nuclear type 35" + "Congenital isolated thyroxine-binding globulin deficiency" "Cervical Glandular Intraepithelial Neoplasia" "spondyloepiphyseal dysplasia tarda" "peroxiredoxin-6 measurement" - "Congenital isolated thyroxine-binding globulin deficiency" "obsolete Moyomoya angiopathy" "spinal muscular atrophy, type III" "X-18899 measurement" @@ -19227,20 +19227,20 @@ "rough endoplasmic reticulum" "Rare non-syndromic cataract" "acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation" - "Afp-GFP" + "palmitoyl sphingomyelin (d18:1/16:0) measurement" "Rat-2" + "Afp-GFP" "Anorexia" - "palmitoyl sphingomyelin (d18:1/16:0) measurement" "Vitreous floaters" "GM15215" "obsolete_precancerous lesion of palpebral epidermis" "sphingolipidosis" "COG6-ongenital disorder of glycosylation" - "obsolete_mitochondrial DNA depletion syndrome, hepatocerebral form" "level of eukaryotic translation initiation factor 4 gamma 3 in blood serum" "familial isolated hypoparathyroidism due to impaired PTH secretion" "interleukin-36 alpha measurement" "total brain volume change measurement"@en + "obsolete_mitochondrial DNA depletion syndrome, hepatocerebral form" "aldosterone-producing adenoma" "Waardenburg syndrome type 2" "level of multiple PDZ domain protein in blood serum" @@ -19249,8 +19249,8 @@ "lymphadenitis" "Mohr-Tranebjaerg syndrome" "lysophosphatidylcholine 20:4 measurement"@en - "obsolete_SRD5A3-CDG" "obsolete_genetic head and neck malformation" + "obsolete_SRD5A3-CDG" "obsolete_partial trisomy of the long arm of chromosome 16" "asparagine" "small conductance calcium-activated potassium channel protein 1 measurement" @@ -19338,10 +19338,10 @@ "obsolete_MOMO syndrome" "extrahepatic bile duct neoplasm" "Alternaria alternata" - "obsolete_hypochondrogenesis" "obsolete_Familial partial lipodystrophy associated with PLIN1 mutations" "whole plant flowering stage" "Chinese" + "obsolete_hypochondrogenesis" "intraocular pressure change measurement" "plexin domain-containing protein 1" "hemifacial hypertrophy" @@ -19372,8 +19372,8 @@ "telecanthus" "collagenopathy" "level of spermine synthase in blood serum" - "Abnormal abdomen morphology" "estrone 3-sulfate measurement" + "Abnormal abdomen morphology" "Fc receptor-like protein 2" "neonatal diabetes mellitus" "metastatic colorectal cancer" @@ -19429,8 +19429,8 @@ "Papio anubis" "megacystis-microcolon-intestinal hypoperistalsis syndrome" "sweat gland disease" - "methylmalonic aciduria and homocystinuria type cblC" "obsolete_adactyly of foot, bilateral" + "methylmalonic aciduria and homocystinuria type cblC" "obsolete_ventral sensory complex primordium" "obsolete_X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia" "X-10429 measurement" @@ -19443,8 +19443,8 @@ "blood viscosity" "cardiac atrium" "sepiapterin reductase (NADP+) activity" - "obsolete_TRPV4-related bone disorder" "athletic endurance measurement" + "obsolete_TRPV4-related bone disorder" "pouchitis" "level of mammalian ependymin-related protein 1 in blood serum" "level of neuropilin and tolloid-like protein 1 in blood serum" @@ -19615,15 +19615,15 @@ "G44" "retinol dehydrogenase 12" "Leri pleonosteosis" + "obsolete_central polydactyly of fingers, unilateral" "Chondroid Chordoma" "alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B measurement" - "obsolete_central polydactyly of fingers, unilateral" "potassium deficiency" "vulvar leiomyoma" "renal hypoplasia, bilateral" "triacylglycerol 48:0" - "Malignant Bone Neoplasm" "C3H10T1/2" + "Malignant Bone Neoplasm" "level of ERO1-like protein beta in blood serum" "immunodeficiency 25" "allergic respiratory disease" @@ -19632,10 +19632,10 @@ "level of BAG family molecular chaperone regulator 5 in blood serum" "axon" "Posterior polar cataract" + "X-12038 measurement" "lichen planus, familial" "insulin-like growth factor-binding protein complex acid labile chain" "T3 B cell" - "X-12038 measurement" "central hypoventilation syndrome, late-onset"@en "SiMSen-Seq" "level of DnaJ homolog subfamily C member 12 in blood serum" @@ -19759,18 +19759,18 @@ "diazoxide-resistant hyperinsulinism" "embryonal Fyn-associated substrate" "fallopian tube papilloma" - "lung pericyte cell"@en "N-allyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide" "sphenoid sinusitis" + "lung pericyte cell"@en "alcohol use disorder measurement" "metapterygoid" "n-Butyl Oleate measurement" "adenine phosphoribosyltransferase deficiency" - "obsolete_partial deletion of the long arm of chromosome 4" "amygdala" "X-linked cerebral adrenoleukodystrophy" - "Microcephaly - deafness - intellectual disability" + "obsolete_partial deletion of the long arm of chromosome 4" "level of nuclear inhibitor of protein phosphatase 1 in blood serum" + "Microcephaly - deafness - intellectual disability" "gigaxonin measurement" "nucleus accumbens volume" "period of infection" @@ -19787,8 +19787,8 @@ "embryonic anal pad" "spina bifida cystica" "Constitutional deficiency anemia" - "optimization design" "obsolete_response to zileuton" + "optimization design" "multiple intestinal atresia" "Thrombophlebitis" "head injury" @@ -19819,11 +19819,11 @@ "isolated encephalocele" "obsolete_synpolydactyly type 2" "phosphatidylcholine 40:6" - "primordial germ cell" "Microcystic Meningioma" + "primordial germ cell" + "obsolete_hemoglobin E disease" "MA-104" "level of tropomodulin-3 in blood serum" - "obsolete_hemoglobin E disease" "eye foreign body" "family history" "thymidylate kinase" @@ -19843,8 +19843,8 @@ "plant embryo" "transferrin receptor protein 1 measurement" "distal trisomy 22q" - "histatin-1" "SPRET/EiJ" + "histatin-1" "sympathetic ophthalmia" "level of prostaglandin reductase 1 in blood serum" "syndactyly type 1" @@ -19908,8 +19908,8 @@ "Molar tooth sign on MRI" "obsolete_Hennekam-Beemer syndrome" "subvalvular aortic stenosis" - "glyceraldehyde-3-phosphate dehydrogenase measurement" "level of cyclin-Y-like protein 1 in blood serum" + "glyceraldehyde-3-phosphate dehydrogenase measurement" "obsolete_Hereditary motor and sensory neuropathy type 5" "ALK and LTK ligand 2" "11beta-hydroxyandrosterone glucuronide measurement" @@ -19923,8 +19923,8 @@ "ALL-SIL cell" "LysoPC 20:1 measurement" "inborn disorder of lysine and hydroxylysine metabolism" - "obsolete_folinic acid-responsive seizures" "obsolete_maternal uniparental disomy of chromosome X" + "obsolete_folinic acid-responsive seizures" "atypical teratoid rhabdoid tumor" "16a-hydroxy DHEA 3-sulfate measurement" "McA-RH7777" @@ -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" @@ -20098,8 +20098,8 @@ "48,XXXY syndrome" "methylmalonic aciduria and homocystinuria type cblD" "metoprolol measurement" - "hydroxyasparagine measurement" "autosomal dominant optic atrophy" + "hydroxyasparagine measurement" "craniometadiaphyseal dysplasia, wormian bone type" "interstitial cystitis" "Alpha-1-antitrypsin deficiency" @@ -20258,8 +20258,8 @@ "X-linked intellectual disability - psychosis - macroorchidism" "phobic disorder" "caveolin-2 measurement" - "obsolete_acroosteolysis-keloid-like lesions-premature aging syndrome" "C4II" + "obsolete_acroosteolysis-keloid-like lesions-premature aging syndrome" "annexin A1 measurement" "obsolete_apical ectodermal ridge pelvic fin bud" "Rare genetic skin disease" @@ -20297,8 +20297,8 @@ "autosomal dominant cerebellar ataxia type IV" "mandibulofacial dysostosis with alopecia" "oculoosteocutaneous syndrome" - "early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome" "receptacle" + "early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome" "parkinsonian-pyramidal syndrome" "Canavan disease" "hyperinsulinemic hypoglycemia" @@ -20382,9 +20382,9 @@ "level of D-dopachrome decarboxylase in blood serum" "49,XXXYY syndrome" "chronic interstitial cystitis" + "ONT GridION X5" "Abnormal blood glucose concentration" "level of LIM domain kinase 1 in blood serum" - "ONT GridION X5" "concentration of large HDL particles measurement" "hyper-IgM syndrome" "forkhead box protein M1" @@ -20531,18 +20531,18 @@ "LXF-289" "Micropapillary Serous Carcinoma" "endothelin-1" + "obsolete_trisomy 17p" "presumptive pronephric mesoderm" "level of peroxisome proliferator-activated receptor gamma coactivator 1-alpha in blood serum" "1-methyladenosine" - "obsolete_trisomy 17p" "Eye Injuries, Penetrating" "pleckstrin homology domain-containing family A member 7 measurement" "traditional Korean medicine type"@en "phosphatidylcholine 40:4" "sh2 domain-containing protein 1a measurement" "OVCAR8" - "Cortical dysplasia - focal epilepsy syndrome" "wooly hair, autosomal recessive 3" + "Cortical dysplasia - focal epilepsy syndrome" "splenic manifestation of hairy cell leukemia" "inositol polyphosphate 4-phosphatase type II" "level of transmembrane and ubiquitin-like domain-containing protein 2 in blood serum" @@ -20556,12 +20556,12 @@ "obsolete_familial retinal arterial macroaneurysm" "developmental delay with or without dysmorphic facies and autism" "X-21285 measurement" - "CBA/J" "Salmo salar" + "CBA/J" "developmental and epileptic encephalopathy, 44" "Fc-epsilon RIalpha-high basophil progenitor cell" - "pineal region meningioma" "histatin-3" + "pineal region meningioma" "level of prostaglandin reductase 2 in blood serum" "X-12850 measurement" "chromosome 2q31.1 duplication syndrome" @@ -20595,9 +20595,9 @@ "ureidopropionic acid measurement"@en "hemochromatosis type 2" "obsolete_hereditary leiomyomatosis and renal cell cancer" + "suppressor of cytokine signaling 3" "level of low-density lipoprotein receptor-related protein 11 in blood serum" "level of chymotrypsin-like elastase family member 1 in blood serum" - "suppressor of cytokine signaling 3" "Salmonella enterica subsp. enterica serovar Dublin" "maternally-inherited spastic paraplegia" "level of mannose-6-phosphate isomerase in blood serum" @@ -20622,8 +20622,8 @@ "cholic acid glucuronide measurement" "periodontitis" "Snoring" - "obsolete_autosomal recessive cutis laxa type 2, classic type" "erythema multiforme major" + "obsolete_autosomal recessive cutis laxa type 2, classic type" "phosphatidylcholine 33:1 measurement" "obsolete_osteogenesis imperfecta type 4" "obsolete_peroneal nerve" @@ -20650,13 +20650,13 @@ "myeloid leukocyte" "KS-IMM" "END-seq" - "obsolete_King-Denborough syndrome" "obsolete_Autosomal recessive spastic paraplegia type 21" - "obsolete_primary microcephaly-mild intellectual disability-young-onset diabetes syndrome" + "obsolete_King-Denborough syndrome" "Cervical Large Cell Neuroendocrine Carcinoma" "pescadillo homolog measurement" "macrophage metalloelastase measurement" "isolated hyperchlorhidrosis" + "obsolete_primary microcephaly-mild intellectual disability-young-onset diabetes syndrome" "oculopharyngeal muscular dystrophy" "muscular dystrophy, adult-onset, with leukoencephalopathy" "Torovirus infectious disease" @@ -20710,8 +20710,8 @@ "epiandrosterone sulfate measurement" "autosomal recessive palmoplantar keratoderma and congenital alopecia" "partial deletion of the long arm of chromosome 21" - "calsequestrin-1" "coronary artery disease, autosomal dominant 2" + "calsequestrin-1" "central congenital hypothyroidism" "tocopherol measurement" "level of BTB/POZ domain-containing protein KCTD7 in blood serum" @@ -20779,8 +20779,8 @@ "Rombo syndrome" "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" "Proximal tubulopathy - diabetes mellitus - cerebellar ataxia" - "canonical inflammasome complex" "obsolete_retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies" + "canonical inflammasome complex" "primary cell line" "wild-derived inbred strain" "Dysmyelinating leukodystrophy" @@ -20867,10 +20867,10 @@ "Alien Hand Syndrome" "developmental and epileptic encephalopathy 105 with hypopituitarism" "antioxidant" + "obsolete_femoral agenesis/hypoplasia, bilateral" "mating type F" "Abnormal radial ray morphology" "level of protocadherin alpha-4 in blood serum" - "obsolete_femoral agenesis/hypoplasia, bilateral" "protein MENT" "level of ribonuclease-like protein 13 in blood serum" "insulin secreting cell" @@ -21016,8 +21016,8 @@ "erythromelalgia" "immunoglobulin superfamily containing leucine-rich repeat protein 2 measurement" "exocrine pancreas" - "autosomal dominant brachyolmia" "prohibitin-2" + "autosomal dominant brachyolmia" "X-18345 measurement" "Craniofacial dysostosis" "multisite chronic pain" @@ -21067,8 +21067,8 @@ "V-set and immunoglobulin domain-containing protein 2" "bronchiolitis obliterans" "qualitative or quantitative defects of plectin" - "Acromesomelic dysplasia, Grebe type" "obsolete_sympathetic nervous system" + "Acromesomelic dysplasia, Grebe type" "CDGSH iron-sulfur domain-containing protein 2 measurement" "NSAID use measurement" "E3 ubiquitin-protein ligase Itchy" @@ -21145,9 +21145,9 @@ "5-hydroxyindole sulfate measurement" "isolated oxycephaly" "obsolete_pyruvate dehydrogenase E3-binding protein deficiency" - "diphtheria" "head mesoderm anlage" "prostaglandin reductase 3" + "diphtheria" "SEM" "hepatic vein" "level of galactosylceramide sulfotransferase in blood serum" @@ -21166,8 +21166,8 @@ "muscular atrophy" "spastic ataxia" "obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature" - "Craniosynostosis - intracranial calcifications" "Acheiropodia" + "Craniosynostosis - intracranial calcifications" "zinc finger protein 23 measurement" "obsolete_embryonic Malpighian tubule tip cell" "obsolete constriction rings syndrome" @@ -21327,13 +21327,13 @@ "obsolete_Amish lethal microcephaly" "phosphatidylethanolamine-binding protein 1 measurement" "macrophage migration inhibitory factor measurement" + "hypercementosis" "autosomal recessive limb-girdle muscular dystrophy type 2A" "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder" - "hypercementosis" "skin papilloma" "X-18935 measurement" - "killer cell immunoglobulin-like receptor 2DL2 measurement" "Streptomyces coelicolor A3(2)" + "killer cell immunoglobulin-like receptor 2DL2 measurement" "level of dystroglycan 1 in blood serum" "benign neoplasm of adrenal gland" "leukemia, acute lymphoblastic, susceptibility to, 3" @@ -21509,8 +21509,8 @@ "obsolete_Caffey disease" "N6,N6,N6-trimethyllysine measurement" "Decreased circulating IgG2 level" - "obsolete_primary membranoproliferative glomerulonephritis" "LC-1F" + "obsolete_primary membranoproliferative glomerulonephritis" "Neonatal hypoglycemia" "kidney-associated antigen 1" "vibratory urticaria" @@ -21541,8 +21541,8 @@ "oculocerebrodental syndrome" "Escherichia fergusonii" "obsolete_pontocerebellar hypoplasia type 9" - "DNA-seq" "cholestasis, intrahepatic, of pregnancy 3" + "DNA-seq" "trait in response to phenytoin" "post-infectious syndrome" "perfluorodecanoic acid" @@ -21578,8 +21578,8 @@ "type 1 diabetes mellitus 2" "pleurisy" "anti-Haemophilus influenzae type b polyribosylribitol phosphate IgG measurement" - "material property" "establishment of localization" + "material property" "dynein light chain Tctex-type 3" "medial" "Gaucher disease type 3" @@ -21641,8 +21641,8 @@ "level of testis-specific serine/threonine-protein kinase 2 in blood serum" "obsolete_Feingold syndrome type 1" "CD44 antigen measurement" - "sulfotrasferase 1A1 measurement" "toxic diffuse goiter" + "sulfotrasferase 1A1 measurement" "apolipoprotein E isoform E2 measurement" "ependymal cell" "obsolete_anterior lateral line ganglion" @@ -21666,9 +21666,9 @@ "protein regulator of cytokinesis 1" "blood sedimentation" "embryonic stage 3" - "Frey Syndrome" "carbonic anhydrase 5A, mitochondrial measurement" "level of centrin-2 in blood serum" + "Frey Syndrome" "Citrus sunki" "level of E3 ubiquitin-protein ligase NEURL1 in blood serum" "CD3 epsilon" @@ -21773,11 +21773,11 @@ "adrenal suppression measurement" "Kaposi's sarcoma" "obsolete_rhizomelic chondrodysplasia punctata type 2" - "obsolete_congenital short bowel syndrome" "collagen alpha-1(I) chain" - "obsolete_seborrhea-like dermatitis with psoriasiform elements" + "obsolete_congenital short bowel syndrome" "D04 cell" "Enchytraeus albidus" + "obsolete_seborrhea-like dermatitis with psoriasiform elements" "central nervous system fibrosarcoma" "fallopian tube papillary adenocarcinoma" "MHH-NB-11" @@ -21876,9 +21876,9 @@ "autosomal dominant spastic ataxia" "obsolete_achondrogenesis" "Microcornea - glaucoma - absent frontal sinuses" - "glucocorticoid modulatory element-binding protein 2 measurement" "multiple pterygium-malignant hyperthermia syndrome" "obsolete_embryonic outer optic lobe primordium" + "glucocorticoid modulatory element-binding protein 2 measurement" "Ly49D-positive natural killer cell, mouse" "Erwinia chrysanthemi" "cysteinylglycine measurement" @@ -22041,8 +22041,8 @@ "immature basophil" "netrin receptor UNC5B" "purine ribonucleoside monophosphate metabolic process" - "secondary dysgenetic glaucoma" "Autosomal recessive spastic paraplegia type 23" + "secondary dysgenetic glaucoma" "lumican measurement" "phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase pten measurement" "macrophage scavenger receptor types I and II measurement" @@ -22053,8 +22053,8 @@ "syndromic constitutional thrombocytopenia" "hyperemesis gravidarum" "level of triokinase/FMN cyclase in blood serum" - "reelin" "facial pain" + "reelin" "GM17142" "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related" "level of mitotic-spindle organizing protein 2A in blood serum" @@ -22107,8 +22107,8 @@ "obsolete_oblique facial cleft" "Synechococcus phage S-RSM2" "apolipoprotein c-III deficiency" - "CYFIP-related Rac1 interactor A" "MCF10DCIS.COM" + "CYFIP-related Rac1 interactor A" "ubiquilin-3" "pancreatic endoderm" "endothelin-3" @@ -22121,12 +22121,12 @@ "sialic acid-binding ig-like lectin 7 measurement" "Neutrophil inclusion bodies" "anterior spinal artery" - "alpha-actinopathy" "Familial renal amyloidosis due to Apolipoprotein AI variant" + "alpha-actinopathy" "Dickeya dadantii" "response to ketogenic diet" - "Diffuse Melanocytosis" "syndromic X-linked intellectual disability Najm type" + "Diffuse Melanocytosis" "kallikrein-6" "common variable immunodeficiency" "CD27-high, CD11b-low natural killer cell, mouse" @@ -22146,8 +22146,8 @@ "level of parathyroid hormone/parathyroid hormone-related peptide receptor in blood serum" "dysostosis multiplex, Ain-Naz type" "X-12855 measurement" - "cerebrovascular endothelial cell" "upper urinary tract" + "cerebrovascular endothelial cell" "vitamin (role)" "level of myosin light polypeptide 6 in blood serum" "PYCR1-related de Barsy syndrome" @@ -22189,8 +22189,8 @@ "ulnar/fibula ray defect-brachydactyly syndrome" "level of deleted in malignant brain tumors 1 protein in blood serum" "organic heterocyclic compound" - "aortic malformation" "Absent pubic hair" + "aortic malformation" "autonomic neuropathy" "Gossypium arboreum" "blue rubber bleb nevus" @@ -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" @@ -22236,8 +22236,8 @@ "Death in infancy" "obsolete_upper limb mesomelic dysplasia" "AG04147" - "antileukoproteinase measurement" "N-acetylputrescine measurement" + "antileukoproteinase measurement" "monocytopenia with susceptibility to infections" "renal tubulopathy-encephalopathy-liver failure syndrome" "pseudohypoparathyroidism" @@ -22304,24 +22304,24 @@ "obsolete_Hypohidrotic ectodermal dysplasia" "level of protein FEV in blood serum" "Autosomal dominant beta2-microglobulinic amyloidosis" - "obsolete_autosomal recessive distal myopathy" "herpes simplex encephalitis, susceptibility to, 3" - "Poroma" + "obsolete_autosomal recessive distal myopathy" "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" - "obsolete_RFT1-CDG" "Hypoglossia - hypodactyly" + "obsolete_RFT1-CDG" "autosomal dominant titinopathy" "CS57705" "Low alkaline phosphatase" @@ -22487,9 +22487,9 @@ "Biliary atresia" "Rare pervasive developmental disorder" "obsolete_hereditary angioedema type 1" + "obsolete_otomandibular dysplasia" "GM00144" "Austrofundulus limnaeus" - "obsolete_otomandibular dysplasia" "Abnormal occipital bone morphology" "congenital muscular dystrophy with cerebellar involvement" "neurexin-3-beta measurement" @@ -22556,8 +22556,8 @@ "chromosome conformation capture assay" "fibroma of prostate" "obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature" - "probable tRNA(His) guanylyltransferase" "Rare disorder with hypogonadotropic hypogonadism" + "probable tRNA(His) guanylyltransferase" "Curly hair-acral keratoderma-caries syndrome" "zinc finger protein 329 measurement" "obsolete_hypopharynx anlage in statu nascendi" @@ -22636,8 +22636,8 @@ "ductus arteriosus" "artificially sweetened beverage consumption measurement" "Illumina MiniSeq" - "septin-5" "U-2932" + "septin-5" "mitral valve" "orotidine" "obsolete autosomal ichthyosis syndrome" @@ -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" "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" @@ -22744,9 +22744,9 @@ "level of DnaJ homolog subfamily C member 11 in blood serum" "Corpuscular Hemoglobin Content" "Ulnar bowing" - "Nager syndrome" "S-1-pyrroline-5-carboxylate measurement" "obsolete_familial generalized lentiginosis" + "Nager syndrome" "segmentation 1-4 somites" "protein LTO1 homolog" "tetraamelia-multiple malformations syndrome" @@ -22854,9 +22854,9 @@ "hereditary spastic paraplegia 34" "infantile bilateral striatal necrosis" "Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells" - "obsolete_lateral meningocele syndrome" - "level of protein BTG4 in blood serum" "superoxide dismutase [Cu-Zn]" + "level of protein BTG4 in blood serum" + "obsolete_lateral meningocele syndrome" "1-stearoyl-2-arachidonoyl-GPS (18:0/20:4) measurement" "renal glomerulus" "obsolete_disorder of mineral absorption and transport" @@ -23061,10 +23061,10 @@ "Alopecia-intellectual disability syndrome" "estrone measurement" "Ceratopteris thalictroides" + "antithrombin-III measurement" "triacylglycerol 50:1 measurement"@en "level of Phosphatidylcholine (O-18:0_20:4) in blood serum" "vagina" - "antithrombin-III measurement" "Houge-Janssens syndrome" "Fractured hand bones" "ermine phenotype" @@ -23205,9 +23205,9 @@ "stromal cell-derived factor 2-like protein 1" "facial asymmetry measurement" "sequestosome-1" + "fungal meningitis" "carboxypeptidase A4 measurement" "renal pelvis papillary urothelial carcinoma" - "fungal meningitis" "platelet glycoprotein ib alpha chain measurement" "leucine-rich repeat neuronal protein 3 measurement" "depudecin" @@ -23314,8 +23314,8 @@ "Finger clinodactyly" "bulbar polio" "viral human hepatitis infection" - "oral cavity mucoepidermoid carcinoma" "obsolete_recombinant 8 syndrome" + "oral cavity mucoepidermoid carcinoma" "ciliary dyskinesia, primary, 49, without situs inversus" "Illumina NovaSeq 6000" "somatic muscle primordium" @@ -23389,8 +23389,8 @@ "obsolete_oligocone trichromacy" "obsolete_SJRCH30" "level of E3 ISG15--protein ligase HERC5 in blood serum" - "alpha-2,8-sialyltransferase 8B measurement" "DnaJ homolog subfamily B member 2 measurement" + "alpha-2,8-sialyltransferase 8B measurement" "GM17807" "future spinal cord" "eukaryotic translation initiation factor 5A-2" @@ -23422,9 +23422,9 @@ "segmentation 5-9 somites" "odontotrichomelic syndrome" "Autosomal dominant deafness-onychodystrophy syndrome" + "obsolete_spinocerebellar ataxia type 30" "myristoyl-linoleoyl-glycerol (14:0/18:2) [1] measurement" "cocaine- and amphetamine-regulated transcript protein" - "obsolete_spinocerebellar ataxia type 30" "teasterone" "hyperprolinemia type 1" "epidemic pleurodynia" @@ -23505,10 +23505,10 @@ "Vibrio parahaemolyticus RIMD 2210633" "454 GS FLX sequencer" "peptidyl-prolyl cis-trans isomerase G" - "triacylglycerol 48:2" "level of twisted gastrulation protein homolog 1 in blood serum" - "level of teneurin-3 in blood serum" + "triacylglycerol 48:2" "syndrome caused by partial chromosomal duplication of the short arm of chromosome 9" + "level of teneurin-3 in blood serum" "Neisseria" "augurin" "complexin-3" @@ -23531,14 +23531,14 @@ "obsolete_familial sick sinus syndrome" "obsolete_Trichophyton megninii" "Xeroderma pigmentosum complementation group F" - "staphylococcus seropositivity" - "social domain measurement" "pneumocystosis" + "social domain measurement" "GPR143-related foveal hypoplasia" "epidermal nevus syndrome" "ezrin" "level of phytanoyl-CoA dioxygenase, peroxisomal in blood serum" "twisted gastrulation protein homolog 1" + "staphylococcus seropositivity" "alpha-crystallinopathy" "SD" "hypertensive heart disease" @@ -23596,8 +23596,8 @@ "Autosomal recessive spastic paraplegia type 25" "Ara-C-resistant murine leukemia" "phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform measurement" - "hydranencephaly" "progesterone-receptor positive breast cancer" + "hydranencephaly" "DNA-directed RNA polymerases I, II, and III subunit RPABC1" "level of bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in blood serum" "serpinopathy" @@ -23664,12 +23664,12 @@ "Angioleiomyoma" "Familial renal amyloidosis due to fibrinogen A alpha-chain variant" "obsolete_congenital achiasma" - "male genital tuberculosis" "level of collagen alpha-2(XI) chain in blood serum" "3-ketoacyl-CoA thiolase, peroxisomal" - "Birt-Hogg-Dube syndrome" + "male genital tuberculosis" "bitter beverage consumption measurement" "obstructive hydrocephalus" + "Birt-Hogg-Dube syndrome" "cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism" "obsolete_brain dopamine-serotonin vesicular transport disease" "energy intake measurement" @@ -23685,8 +23685,8 @@ "Metabolic disease due to other fatty acid oxidation disorder" "peroxisome biogenesis disorder, complementation group 7"@en "obsolete_bone of lower extremity" - "insulin-resistance syndrome type A" "Familial cold urticaria" + "insulin-resistance syndrome type A" "primary biliary cirrhosis" "prolylproline measurement" "Smith-McCort dysplasia 1" @@ -23749,8 +23749,8 @@ "larynx carcinoma in situ" "tumor necrosis factor receptor superfamily member 12A measurement" "hypomyelinating leukodystrophy 3" - "obsolete_linear atrophoderma of Moulin" "visceral:abdominal adipose tissue ratio measurement" + "obsolete_linear atrophoderma of Moulin" "interleukin 5 measurement" "Primary dystonia, DYT4 type" "spina bifida-hypospadias syndrome" @@ -23758,8 +23758,8 @@ "EEG with temporal focal spikes" "inherited susceptibility to mycobacterial diseases" "obsolete_familial primary hypomagnesemia with normocalcuria" - "obsolete_familial atypical multiple mole melanoma syndrome" "level of protein tyrosine phosphatase type IVA 3 in blood serum" + "obsolete_familial atypical multiple mole melanoma syndrome" "LP.14 fourteen leaves visible stage" "thyroid hormone resistance syndrome" "assay by array" @@ -23800,8 +23800,8 @@ "vaginal microbiome measurement"@en "bladder urachal carcinoma" "neuronal ceroid-lipofuscinosis, dominant/recessive"@en - "level of G antigen 12F in blood serum" "Eudesmic acid (3,4,5-trimethoxybenzoic acid) measurement" + "level of G antigen 12F in blood serum" "hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation" "UWR2" "obsolete_familial partial epilepsy" @@ -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" "Herpes Labialis" "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies" @@ -23945,8 +23945,8 @@ "obsolete_coenzyme Q10 deficiency" "pituitary adenylate cyclase-activating polypeptide" "congenital deformities of limbs" - "osmotic stress treatment" "ribulonate measurement" + "osmotic stress treatment" "Autosomal recessive spastic paraplegia type 53" "GW 6471 measurement" "congenital secondary polycythemia" @@ -24017,9 +24017,9 @@ "thigh muscle measurement"@en "phospholipids in very small VLDL measurement " "level of myeloid zinc finger 1 in blood serum" + "obsolete_pre-descemet corneal dystrophy" "familial cold autoinflammatory syndrome 3" "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3" - "obsolete_pre-descemet corneal dystrophy" "Ectrodactyly - polydactyly" "syndromic hypothyroidism" "CD70 antigen measurement" @@ -24080,8 +24080,8 @@ "sclerosing cholangitis" "GM12869" "X-23637 measurement" - "musculo-skeletal system cell" "UV excision repair protein RAD23 homolog A" + "musculo-skeletal system cell" "temperature" "PEAT" "GM17808" @@ -24108,15 +24108,15 @@ "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" "translation machinery-associated protein 16" - "Salivary Gland Acinic Cell Carcinoma" "level of RING finger protein 24 in blood serum" "aldehyde dehydrogenase, dimeric NADP-preferring" + "Salivary Gland Acinic Cell Carcinoma" "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" @@ -24156,8 +24156,8 @@ "obsolete_malposition of external canthus" "switch-associated protein 70" "juxtacortical osteosarcoma" - "Rhodococcus aetherivorans" "stress-related disorder" + "Rhodococcus aetherivorans" "2b-RAD" "mammary-digital-nail syndrome" "visceral muscle primordium" @@ -24270,8 +24270,8 @@ "gamma-Glu-Met" "2q23.1 microduplication syndrome" "Upington disease" - "microlissencephaly-micromelia syndrome" "Abnormal gastrointestinal motility" + "microlissencephaly-micromelia syndrome" "bone morphogenetic protein 8B" "level of fumarylacetoacetate hydrolase domain-containing protein 2A in blood serum" "Arecaidine" @@ -24295,8 +24295,8 @@ "level of guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 in blood serum" "MHC-II-negative classical monocyte" "level of protein-glutamine gamma-glutamyltransferase 2 in blood serum" - "3-Indolepropionic acid to 4-Hydroxybenzaldehyde ratio" "tricho-dento-osseous syndrome" + "3-Indolepropionic acid to 4-Hydroxybenzaldehyde ratio" "cataract-ataxia-deafness syndrome" "stathmin-4 measurement" "CA1 field of hippocampus" @@ -24341,11 +24341,11 @@ "TUBB2A-related tubulinopathy" "obsolete_cranial vasculature" "hereditary macular dystrophy" - "valine--tRNA ligase measurement" "NKG2D ligand 4 measurement" "stricture or kinking of ureter" "metagenomic data" "trigeminal nerve neoplasm" + "valine--tRNA ligase measurement" "feeling miserable measurement" "response to placebo" "autosomal dominant cataract" @@ -24397,9 +24397,9 @@ "obsolete_hereditary gingival fibromatosis" "asthma exacerbation measurement" "carcinosarcoma" - "gastric cardia carcinoma" "DA-3" "postnatal" + "gastric cardia carcinoma" "tumor necrosis factor receptor superfamily member 13B measurement" "Spondyloepiphyseal dysplasia, Maroteaux type" "syntaxin-8" @@ -24441,13 +24441,13 @@ "6-propyl-2-thiouracil" "esophageal leukoplakia" "triclosan measurement"@en - "Gluconic acid measurement" "factor V and factor VIII, combined deficiency of, type 1" + "Gluconic acid measurement" "visceral:gluteofemoral adipose tissue ratio measurement" "GES-1" "obsolete_hypotrichosis-intellectual disability, Lopes type" - "serum IgM measurement" "Autoimmune polyendocrinopathy type 1" + "serum IgM measurement" "obsolete_bathing suit ichthyosis" "Pneumothorax" "axial mesoderm" @@ -24515,8 +24515,8 @@ "Marden-Walker syndrome" "acquired ichthyosis" "secondary biliary cirrhosis" - "megakaryocyte-associated tyrosine-protein kinase measurement" "intellectual disability-strabismus syndrome" + "megakaryocyte-associated tyrosine-protein kinase measurement" "skeletal muscle tissue" "nucleosome sequencing" "BTB/POZ domain-containing protein KCTD1" @@ -24525,10 +24525,10 @@ "umbilical artery" "Combined hyperlipidemia" "obsolete_Prata-Liberal-Goncalves syndrome" + "obsolete_carnitine palmitoyl transferase II deficiency, severe infantile form" "neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities" "Bloom syndrome" "tetratricopeptide repeat protein 33" - "obsolete_carnitine palmitoyl transferase II deficiency, severe infantile form" "rap guanine nucleotide exchange factor 5 measurement" "obsolete_mitochondrial DNA deletion syndrome with progressive myopathy" "Delayed gross motor development" @@ -24590,19 +24590,19 @@ "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" "level of selenoprotein W in blood serum" "P5CS deficiency" - "obsolete_Marshall syndrome" - "A/J" "obsolete_neck" "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" + "obsolete_Marshall syndrome" "Saccharomyces pastorianus Weihenstephan 34/70" "Atelis syndrome 2" + "A/J" "thrombocytopenia-absent radius syndrome" "leiomyosarcoma of the cervix uteri" "heneicosapentaenoate (21:5n3) measurement" @@ -24667,8 +24667,8 @@ "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" "cranial neural crest" @@ -24719,12 +24719,12 @@ "pharyngeal arch artery 1" "langerin-negative, CD103-negative lymph node dendritic cell" "pool" + "collectin-12 measurement" "proteasome subunit alpha type-7" "phagocyte" - "collectin-12 measurement" + "developmental disability" "long QT syndrome 9" "BEST1-related vitreoretinochoroidopathy" - "developmental disability" "carcinoembryonic antigen-related cell adhesion molecule 1 measurement" "parenchymal hematoma"@en "connective and soft tissue neoplasm" @@ -24778,9 +24778,9 @@ "Abnormality of movement" "endothelial lipase" "vesicle-associated membrane protein 4" + "obsolete_renal dysplasia" "Dextrocardia" "trochanter bone mineral density"@en - "obsolete_renal dysplasia" "obsolete_lumbosacral spina bifida cystica" "phospholipids in medium HDL measurement " "Camptodactyly - taurinuria" @@ -24789,8 +24789,8 @@ "CD4-positive T-lymphocyte count" "Granulocytopenia" "Deafness - encephaloneuropathy - obesity - valvulopathy" - "alpha-crystallin A chain measurement" "progonadoliberin-1" + "alpha-crystallin A chain measurement" "putative adhesion G protein-coupled receptor F2P" "GM17806" "glycerophosphocholine phosphodiesterase GPCPD1" @@ -24798,8 +24798,8 @@ "mitochondrial DNA depletion syndrome, hepatocerebral form" "level of TIR domain-containing adapter molecule 2 in blood serum" "longitudinal alcohol consumption measurement" - "dipeptidase 2" "HG03045" + "dipeptidase 2" "abdominal aortic raised atherosclerotic lesion" "acquired secondary polycythemia" "E/A ratio" @@ -24818,9 +24818,9 @@ "spermatogenesis-associated protein 31D4 (human)" "sodium nitroprusside dihydrate measurement" "F4/80-negative adipose macrophage" + "Rare genetic neurological disorder" "X-11799 measurement" "ear" - "Rare genetic neurological disorder" "polyploid" "response to anti-tuberculosis drug" "obsolete_Hereditary persistence of fetal hemoglobin - sickle cell disease" @@ -24836,8 +24836,8 @@ "2,3,7,8-tetrachlorodibenzodioxine" "C-glycosyltryptophan-to-succinylcarnitine ratio" "arthrogryposis-renal dysfunction-cholestasis syndrome" - "obsolete_keratoconjunctivitis sicca" "level of clathrin interactor 1 in blood serum" + "obsolete_keratoconjunctivitis sicca" "carotid body" "obsolete_somatic nervous system" "Disorder of cobalamin metabolism and transport" @@ -24868,8 +24868,8 @@ "level of BTB/POZ domain-containing protein KCTD2 in blood serum" "future internal carotid artery" "LysoPA 16:0 measurement" - "Amniotic bands" "bipolar I disorder" + "Amniotic bands" "Talipes cavus equinovarus" "permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome" "nasopharyngeal carcinoma, susceptibility to, 1" @@ -25097,10 +25097,10 @@ "uncharacterized protein C14orf93 measurement" "Cerebellar ataxia, Cayman type" "pre-natural killer cell" - "maculopapular eruption" "bone chondrosarcoma" - "bisphenol A measurement"@en + "maculopapular eruption" "G122" + "bisphenol A measurement"@en "tumor necrosis factor receptor superfamily member 13C measurement" "Pantherophis obsoletus" "1-palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine" @@ -25179,8 +25179,8 @@ "Isonicotinamide measurement" "4-hydroxyphenylacetylglutamine measurement" "apoptotic protease-activating factor 1" - "hemorrhagic cystitis" "glutaredoxin-like protein C5orf63 measurement" + "hemorrhagic cystitis" "level of carboxypeptidase B in blood serum" "bronchiolitis" "obsolete_mucolipidosis" @@ -25295,14 +25295,14 @@ "spondyloepimetaphyseal dysplasia-hypotrichosis syndrome" "cell" "Subcutaneous hemorrhage" + "obsolete_Marshall-Smith syndrome" "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" + "linolenoylcarnitine (C18:3) measurement" "B6.Cg-Tg(SOD1-G93A)1Gur/J" "congenital thrombotic thrombocytopenic purpura" - "linolenoylcarnitine (C18:3) measurement" "apolipoprotein C-I" "cAMP-dependent protein kinase type I-alpha regulatory subunit" "Chiari malformation" @@ -25322,9 +25322,9 @@ "obsolete_atrial septal defect, ostium secundum type" "Cucurbita maxima" "formylglycine-generating enzyme" - "obsolete_mosaic trisomy 20" - "sign or symptom concerning food and fluid intake" "level of alpha-N-acetylglucosaminidase in blood serum" + "sign or symptom concerning food and fluid intake" + "obsolete_mosaic trisomy 20" "spontaneous mutation" "calcium uptake protein 2, mitochondrial" "Ritscher-Schinzel syndrome 1" @@ -25353,10 +25353,10 @@ "obsolete_response to gefitinib" "fruit" "neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures" - "obsolete_Pfeiffer syndrome type 2" "N-acetylglucosamine-1-phosphotransferase subunit gamma" "distal trisomy 6q" "alanine" + "obsolete_Pfeiffer syndrome type 2" "GM1 gangliosidosis type 1" "Theiler stage 4" "Erysipelothrix infectious disease" @@ -25367,8 +25367,8 @@ "biliary, renal, neurologic, and skeletal syndrome" "level of laminin subunit alpha-4 in blood serum" "Genetic gynecological tumor" - "Ichthyosis - alopecia - eclabion - ectropion - intellectual disability" "level of complement C1q-like protein 2 in blood serum" + "Ichthyosis - alopecia - eclabion - ectropion - intellectual disability" "nasal cavity carcinoma" "pilomyxoid astrocytoma" "2,4,6-trinitrotoluene" @@ -25378,11 +25378,11 @@ "Human T-lymphotropic virus 2 infectious disease" "Wyburn-Mason syndrome" "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" @@ -25410,8 +25410,8 @@ "RKOE6" "X-linked chondrodysplasia punctata" "dipeptidase 2 measurement" - "Progressive myoclonic epilepsy" "obsolete_familial multiple trichoepithelioma" + "Progressive myoclonic epilepsy" "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" "spastic paraparesis-deafness syndrome" "Myokymia" @@ -25445,19 +25445,19 @@ "lithium chloride" "level of 5-hydroxy-6,8,11,14-eicosatetraenoic acid in blood plasma" "dislocation" + "GM12871" "autosomal recessive hyperinsulinism due to Kir6.2 deficiency" "ND01173" - "GM12871" "experimental cell" "obsolete_Loeys-Dietz syndrome" "Hyperplastic Polyp" "C9orf72 mutation status" "temperature-sensitive oculocutaneous albinism type 1" "pigmented purpuric eruption" - "level of Toll/interleukin-1 receptor domain-containing adapter protein in blood serum" + "DroNc-seq" "amyloid plaque accumulation rate" + "level of Toll/interleukin-1 receptor domain-containing adapter protein in blood serum" "motor nerve neuritis" - "DroNc-seq" "quinidine" "Limb-girdle muscle weakness" "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" @@ -25475,8 +25475,8 @@ "eIF5-mimic protein 1" "external ear" "spinocerebellar ataxia-dysmorphism syndrome" - "obsolete_gum" "PHD finger protein 11" + "obsolete_gum" "AApoAI amyloidosis" "Staphylococcus aureus subsp. aureus Mu50" "obsolete_Irish" @@ -25535,8 +25535,8 @@ "obsolete_encephalopathy due to beta-mercaptolactate-cysteine disulfiduria" "mouse erythroleukemia cell" "high density lipoprotein cholesterol measurement" - "kernicterus" "level of dual specificity protein kinase CLK2 in blood serum" + "kernicterus" "obsolete_Disorder of creatine biosynthesis" "2-palmitoylglycerol (16:0) measurement" "Abnormal muscle tone" @@ -25546,10 +25546,10 @@ "protein-glutamine gamma-glutamyltransferase activity" "integumentary system cancer" "gastroesophageal reflux disease" - "placebo" + "Hirschsprung disease - ganglioneuroblastoma" "choroideremia-deafness-obesity syndrome" "alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5" - "Hirschsprung disease - ganglioneuroblastoma" + "placebo" "blood cobalt measurement" "Decreased circulating aldosterone level" "sessile serrated polyp" @@ -25585,8 +25585,8 @@ "phenytoin" "obsolete rare hereditary systemic disease with peripheral neuropathy" "LysoPC 14:0 measurement" - "LN-428" "obsolete_brachydactyly" + "LN-428" "ulcerative proctosigmoiditis" "pseudouridylate synthase TRUB1" "autosomal dominant limb-girdle muscular dystrophy type 1G" @@ -25606,8 +25606,8 @@ "obsolete_postcentral gyrus" "indole-3-lactic acid measurement" "obsolete_foregut primordium" - "ATP synthase F(0) complex subunit B1, mitochondrial" "V-set and immunoglobulin domain-containing protein 10-like" + "ATP synthase F(0) complex subunit B1, mitochondrial" "skin conductance response frequency" "AB SOLiD System" "928 mel" @@ -25640,8 +25640,8 @@ "E3 ubiquitin-protein ligase NRDP1" "mediastinum liposarcoma" "obsolete_presumptive forebrain" - "obsolete_genetic hypoparathyroidism" "brain growth measurement" + "obsolete_genetic hypoparathyroidism" "Dengue virus 2" "obsolete_focal facial dermal dysplasia" "X-23749 measurement" @@ -25693,15 +25693,15 @@ "Disorder of fatty acid oxidation and ketone body metabolism" "7-ketodeoxycholate measurement" "Columbia ecotype" + "Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome" "GM17158" "Populus" - "Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome" "Autosomal recessive disease with focal palmoplantar keratoderma as a major feature" "Lung Signet Ring Cell Carcinoma" "Hamartoma" "E3 ubiquitin-protein ligase FANCL measurement" - "glucose-6-phosphate dehydrogenase activity" "Choanal atresia-deafness-cardiac defects-dysmorphism syndrome" + "glucose-6-phosphate dehydrogenase activity" "3-Indolepropionic acid to cis-5,8,11,14,17-Eicosapentaenoic acid C20:5n3) ratio" "leucine-rich repeat-containing protein 75A" "syndactyly type 6" @@ -25923,12 +25923,12 @@ "level of carboxypeptidase D in blood serum" "eye carcinoma" "obsolete_mucopolysaccharidosis" + "Tritanopia" + "obsolete_osteogenesis imperfecta" "obsolete_20q11.2 microduplication syndrome" "benign neoplasm of exocrine pancreas" - "gamma-carboxy-L-glutamic acid zwitterion(2-)" - "obsolete_osteogenesis imperfecta" - "Tritanopia" "Terminal limb defects" + "gamma-carboxy-L-glutamic acid zwitterion(2-)" "GM17845" "contractures-ectodermal dysplasia-cleft lip/palate syndrome" "anterior limiting lamina of cornea" @@ -25954,9 +25954,9 @@ "Localized epidermolysis bullosa simplex" "obsolete_Proximal spinal muscular atrophy type 1" "3-methylglutaconic aciduria type 3" - "Intellectual disability - alacrima - achalasia" "cytoplasmic dynein 1 light intermediate chain 2" "cervical squamous intraepithelial neoplasia" + "Intellectual disability - alacrima - achalasia" "level of glucosamine-6-phosphate isomerase 1 in blood serum" "Ulbright-Hodes syndrome" "obsolete_embryonic foregut sensory structure" @@ -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" - "dietary potassium intake measurement" "obsolete_porphyria" + "dietary potassium intake measurement" + "complement C2 measurement" "Postaxial foot polydactyly" "suppressor macrophage" "density gradient centrifugation" @@ -26146,8 +26146,8 @@ "platelet-derived growth factor subunitAmeasurement" "obsolete_Legg-Calve-Perthes Disease" "5-nonyloxytryptamine oxalate" - "obsolete_distal trisomy 20q" "core binding factor acute myeloid leukemia" + "obsolete_distal trisomy 20q" "mycobacterial infectious disease" "GM17207" "ILSXISS25/TejJ" @@ -26230,8 +26230,8 @@ "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome" "Cryptorchidism - arachnodactyly - intellectual disability" "plant callus" - "diabetic encephalopathy" "dihydropyrimidinase-related protein 5 measurement" + "diabetic encephalopathy" "level of SH3 domain-binding glutamic acid-rich-like protein 2 in blood serum" "autosomal recessive dyskeratosis congenita 4" "sensory perception of sound" @@ -26317,10 +26317,10 @@ "asymptomatic neurocognitive impairment" "obsolete_Joubert syndrome and related disorders" "vacuolar protein-sorting-associated protein 25" + "obsolete_pyruvate dehydrogenase E3 deficiency" "aurora kinase A measurement" "Radiation Pneumonitis" "Plasmodium falciparum antigen IgG measurement" - "obsolete_pyruvate dehydrogenase E3 deficiency" "4-androsten-3beta,17beta-diol disulfate 2 measurement" "macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin" "level of Ras-related protein Rab-6B in blood serum" @@ -26367,9 +26367,9 @@ "level of multimerin-2 in blood serum" "level of vacuolar protein-sorting-associated protein 25 in blood serum" "percutaneous kidney biopsy" - "oleoyl ethanolamide" "level of matrilin-4 in blood serum" "E3 ubiquitin-protein ligase CBL-C" + "oleoyl ethanolamide" "X-linked distal spinal muscular atrophy type 3" "X chromosome number anomaly with male phenotype" "Familial gastric cancer" @@ -26432,8 +26432,8 @@ "level of ubiquitin-conjugating enzyme E2 D3 in blood serum" "C-type natriuretic peptide" "microspherophakia-metaphyseal dysplasia syndrome" - "nuclear nucleic acid-binding protein C1D measurement" "Dementia" + "nuclear nucleic acid-binding protein C1D measurement" "steroid biosynthetic process" "congenital limb malformation" "methionine catabolic process" @@ -26460,14 +26460,14 @@ "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" "ribonucleoside biosynthetic process" - "systemic primary carnitine deficiency disease" "conventional fibrosarcoma" + "systemic primary carnitine deficiency disease" "carboxypeptidase N subunit 2" "drug-induced mental disorder" "SUM44PE" @@ -26588,8 +26588,8 @@ "obsolete_palatoquadrate arch" "genito-palato-cardiac syndrome" "obsolete_oculocutaneous albinism" - "normal mucosa of esophagus-specific gene 1 protein measurement" "Mayer-Rokitansky-Küster-Hauser syndrome type 2" + "normal mucosa of esophagus-specific gene 1 protein measurement" "Penaeus monodon" "anserine measurement" "obsolete_Goldenhar syndrome" @@ -26633,8 +26633,8 @@ "1-stearoyl-2-docosapentaenoyl-GPC (18:0/22:5n3) measurement" "obsolete_X-linked intellectual disability, Seemanova type" "5,6-dihydrouridine measurement" - "Brooke-Spiegler syndrome" "CS57511" + "Brooke-Spiegler syndrome" "Gossypium barbadense" "Pituitary Gland Adenoma" "obsolete_cleidorhizomelic syndrome" @@ -26666,16 +26666,16 @@ "chromosome 12p deletion" "15-methylpalmitate isobar with 2-methylpalmitate measurement" "uveal melanoma disease severity"@en - "Autosomal dominant focal dystonia, DYT25" "Nephropathy-deafness-hyperparathyroidism syndrome" + "Autosomal dominant focal dystonia, DYT25" "Simple Endometrial Hyperplasia" "Dengue virus 4" "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" + "mutagen" "breast milk collection" "G130" "disorder of galactose and fructose metabolism" @@ -26763,8 +26763,8 @@ "1,3-dimethylurate measurement" "Staphylococcus aureus subsp. aureus USA300" "distal hereditary motor neuropathy" - "high-grade astrocytoma with piloid features" "cataract - microcornea syndrome" + "high-grade astrocytoma with piloid features" "presumptive rhombomere 3" "inflammatory macrophage" "p phenotype"@en @@ -26800,8 +26800,8 @@ "HUES49" "Generalized-onset seizure" "MRC-5V1"@en - "cardiac stress biomarker measurement" "portal hypertension" + "cardiac stress biomarker measurement" "alcohol exposure measurement" "Short toe" "granular eminence" @@ -26849,10 +26849,10 @@ "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" - "obsolete_head capsule" + "developmental and epileptic encephalopathy 99" "Endometrial Clear Cell Adenocarcinoma" + "obsolete_head capsule" "AFib amyloidosis" "pollen sperm cell" "level of fructose-bisphosphate aldolase C in blood serum" @@ -26919,18 +26919,18 @@ "X-linked intellectual disability-cerebellar hypoplasia syndrome" "electric current unit" "interleukin-17C measurement" + "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies" "apocrine adenocarcinoma" "GM17111" "endoplasmic reticulum membrane sensor NFE2L1" "obsolete_root hair" - "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies" + "tobacco smoke exposure measurement" "membrane protein FAM174A" "embryonic day 18.5" "juvenile vascular leaf" "proteasome subunit beta type-1" "lysosomal transport" "primary prostate urothelial carcinoma" - "tobacco smoke exposure measurement" "obsolete_trigeminal nerve" "level of Cer(m18:1(4E)/24:1(15Z)) in blood serum" "zinc finger protein 41" @@ -27043,11 +27043,11 @@ "acute myeloid leukemia, t(6;11)(q27;q23)" "dialkylglycerol" "oxytocin" - "optic atrophy 13 with retinal and foveal abnormalities" "obsolete_polymicrogyria" + "optic atrophy 13 with retinal and foveal abnormalities" + "pharyngeal system development" "oculo-skeletal-renal syndrome" "non-syndromic X-linked intellectual disability" - "pharyngeal system development" "perineum disease" "GM17230" "obsolete_growth delay due to insulin-like growth factor I resistance" @@ -27109,8 +27109,8 @@ "blood chromium measurement" "Chédiak-Higashi syndrome" "Congenital finger flexion contractures" - "level of protein delta homolog 1 in blood serum" "level of TOM1-like protein 1 in blood serum" + "level of protein delta homolog 1 in blood serum" "actin filament-associated protein 1-like 2" "father's age at death" "Femoral bowing" @@ -27162,8 +27162,8 @@ "vacuolar protein sorting-associated protein 26A" "Disorder of tryptophan metabolism" "cotinine measurement" - "level of oncoprotein-induced transcript 3 protein in blood serum" "splicing factor YJU2" + "level of oncoprotein-induced transcript 3 protein in blood serum" "Neisseria meningitidis" "neurodevelopmental disorder with central hypotonia and dysmorphic facies" "alverine measurement" @@ -27187,8 +27187,8 @@ "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" @@ -27413,8 +27413,8 @@ "obsolete_split foot" "idiopathic hypersomnia" "X-11876 measurement" - "level of transcription factor CP2-like protein 1 in blood serum" "succinylcarnitine measurement"@en + "level of transcription factor CP2-like protein 1 in blood serum" "Cooks syndrome" "Rabies virus" "blood 3-hydroxyoctanoylcarnitine" @@ -27482,8 +27482,8 @@ "zinc finger protein measurement" "migraine without aura" "obsolete_amnioserosa primordium" - "a disintegrin and metalloproteinase with thrombospondin motifs 1 measurement" "CS57512" + "a disintegrin and metalloproteinase with thrombospondin motifs 1 measurement" "pericardial adipose tissue measurement" "punctate palmoplantar keratoderma" "Placental Choriocarcinoma" @@ -27513,10 +27513,10 @@ "level of zinc finger protein 774 in blood serum" "uterine ligament cancer" "serine-type endopeptidase activity" - "obsolete_autosomal recessive cutis laxa type 1" "Nephrosis - deafness - urinary tract - digital malformations" "Elevated urinary delta-aminolevulinic acid" "HEK293" + "obsolete_autosomal recessive cutis laxa type 1" "HUES53" "obsolete_Gorlin syndrome" "Bloody diarrhea" @@ -27547,8 +27547,8 @@ "level of sprouty-related, EVH1 domain-containing protein 1 in blood serum" "female genital tract fistula" "developmental and epileptic encephalopathy 103" - "obsolete_Meckel syndrome" "dihydroxy docosatrienoic acid measurement" + "obsolete_Meckel syndrome" "oculocutaneous albinism type 4" "Postaxial polydactyly of toes" "Hypervolemia" @@ -27733,9 +27733,9 @@ "obsolete_intellectual disability-obesity-prognathism-eye and skin anomalies syndrome" "T-cell differentiation antigen CD6 (human)" "obsolete_humeral agenesis/hypoplasia, unilateral" + "obsolete_Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion" "parietal cell" "hilar cholangiocarcinoma" - "obsolete_Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion" "partial deletion of chromosome 19" "EB3" "Actinobacillus pleuropneumoniae serovar 7" @@ -27842,8 +27842,8 @@ "ubiquitin-conjugating enzyme E2 J1 measurement" "cutaneous polyarteritis nodosa" "obsolete lateral facial cleft" - "duodenal atresia" "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11" + "duodenal atresia" "obsolete_uvula" "GM10832" "Valine-d8" @@ -27923,14 +27923,14 @@ "Venezuelan equine encephalitis" "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" "Elevated circulating 7-dehydrocholesterol concentration" "Bombyx mori" - "obsolete_autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures" + "obsolete_duodenal atresia" "protein 4.1" "level of mitochondrial-processing peptidase subunit alpha in blood serum" - "obsolete_duodenal atresia" "very long-chain saturated fatty acid measurement" "cortisone measurement" "posterior lateral line nerve" @@ -28016,9 +28016,9 @@ "obsolete_X-linked intellectual disability, Stevenson type" "Abnormality of taste sensation" "left cardiac atrium" - "porphobilinogen deaminase measurement" "isolated microphthalmia 4" "insect head capsule" + "porphobilinogen deaminase measurement" "tricuspid atresia" "level of sorting nexin-1 in blood serum" "L-lactate dehydrogenase C chain" @@ -28044,10 +28044,10 @@ "autism, susceptiblity to" "uncharacterized protein C6orf226 measurement" "geniculate herpes zoster" + "obsolete_Goldmann-Favre syndrome" "X-23641 measurement" "level of ATP-dependent zinc metalloprotease YME1L1 in blood serum" "uterine corpus choriocarcinoma" - "obsolete_Goldmann-Favre syndrome" "acute quadriplegic myopathy" "acute erythroblastic leukemia" "level of Phosphatidylcholine (20:4_0:0) in blood serum" @@ -28098,8 +28098,8 @@ "level of prokineticin-2 in blood serum" "cadherin-1 measurement" "Tossa de Mar ecotype" - "coagulation factor IX measurement" "Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability" + "coagulation factor IX measurement" "ocular motility disease" "proteasome subunit beta type-2" "1-dihomo-linoleoyl-GPC (20:2) measurement" @@ -28130,8 +28130,8 @@ "benign neoplasm of large intestine" "obsolete_Otopalatodigital syndrome" "serpin B4" - "frailty measurement" "digestive system melanoma" + "frailty measurement" "GM17846" "carcinoembryonic antigen-related cell adhesion molecule 8" "nuclear factor erythroid 2-related factor 1 measurement" @@ -28223,7 +28223,7 @@ "obsolete_floor plate neural rod" "spinal cord disease" "urate measurement" - "unipolar depression" + "obsolete_unipolar depression" "ribonucleic acid" "disease of orbital region" "Blocked Eustachian tube" @@ -28267,9 +28267,9 @@ "obsolete_pineal gland" "obsolete regenerating islet-derived protein 3-gamma" "WAP four-disulfide core domain protein 6" - "obsolete_zygodactyly type 4" "level of serine/threonine-protein kinase 10 in blood serum" "autoinflammatory syndrome, familial, Behcet-like" + "obsolete_zygodactyly type 4" "pyruvate carboxylase deficiency disease" "Meningothelial Meningioma" "right ventricular systolic volume to left ventricular systolic volume ratio"@en @@ -28413,8 +28413,8 @@ "obsolete_somite 3" "EFM19" "inherited" - "S-warfarin to R-warfarin ratio measurement" "level of group IID secretory phospholipase A2 in blood serum" + "S-warfarin to R-warfarin ratio measurement" "TYK-nu" "ampulla of vater squamous cell carcinoma" "familial isolated congenital asplenia" @@ -28458,8 +28458,8 @@ "hyper-IgE syndrome" "level of death domain-containing protein CRADD in blood serum" "qualitative or quantitative defects of calpain" - "early-onset generalized dystonia" "Malformation of the neurenteric canal, spinal cord and column" + "early-onset generalized dystonia" "level of discoidin, CUB and LCCL domain-containing protein 1 in blood serum" "Beck-Fahrner syndrome" "clomipramine" @@ -28514,8 +28514,8 @@ "Ruegeria pomeroyi" "tubulin polymerization-promoting protein family member 2 measurement" "suprabasin measurement" - "WRL-68" "Ehlers-Danlos syndrome, periodontal type 2" + "WRL-68" "myopericytoma" "neurexophilin-2" "autosomal recessive spastic paraplegia type 71" @@ -28541,8 +28541,8 @@ "obsolete_submandibular gland" "Lactobacillus buchneri" "autosomal dominant limb-girdle muscular dystrophy type 1F" - "syndactyly" "adenine DNA glycosylase MUTYH" + "syndactyly" "3-Indolepropionic acid to Uric acid ratio" "integral membrane protein 2B" "contrast sensitivity measurement" @@ -28607,10 +28607,10 @@ "level of chromobox protein homolog 3 in blood serum" "NAD-dependent protein deacetylase sirtuin-3, mitochondrial" "acute myeloid leukemia, t(11;19)(q23;p13)" - "NAD-dependent protein deacetylase sirtuin-2 measurement" "phosphatidylcholine 38:4 measurement"@en - "orofaciodigital syndrome X" + "NAD-dependent protein deacetylase sirtuin-2 measurement" "mouth floor" + "orofaciodigital syndrome X" "obsolete_lateral root" "undefined ancestry population" "gonadal germ cell tumor" @@ -28689,8 +28689,8 @@ "N-phosphocreatine" "hereditary hyperbilirubinemia" "isoxaben" - "Holothuria glaberrima" "X-12435 measurement" + "Holothuria glaberrima" "developmental and epileptic encephalopathy, 87" "trisomy 8p" "obsolete_oculopharyngeal muscular dystrophy" @@ -28699,10 +28699,10 @@ "obsolete_hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency" "Multinodular goiter - cystic kidney - polydactyly" "casein kinase I isoform delta measurement" + "obsolete_primary qualitative or quantitative defects of alpha-dystroglycan" "Jacobsen syndrome" "pericarp" "GM17213" - "obsolete_primary qualitative or quantitative defects of alpha-dystroglycan" "ear infection" "level of pleckstrin homology domain-containing family A member 7 in blood serum" "germ cell" @@ -28742,8 +28742,8 @@ "auxin" "African American" "level of homeobox protein DLX-2 in blood serum" - "N-acetyl-4-chlorophenylalanine measurement" "Splenic Marginal Zone Lymphoma" + "N-acetyl-4-chlorophenylalanine measurement" "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures" "Upslanted palpebral fissure" "body weights and measures" @@ -28762,8 +28762,8 @@ "magnesium transporter NIPA4" "obsolete_adaxial cells" "X-11440-to-4-androsten-3beta,17beta-diol disulfate 2 ratio" - "Cervical Small Cell Carcinoma" "recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome" + "Cervical Small Cell Carcinoma" "BL41K3" "level of papilin in blood serum" "level of erlin-1 in blood serum" @@ -28784,8 +28784,8 @@ "level of BAG family molecular chaperone regulator 2 in blood serum" "obsolete_familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome" "Brachydactyly of fingers" - "Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome" "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" @@ -28800,8 +28800,8 @@ "GM12155" "serine/threonine-protein kinase PAK 4" "PDZ and LIM domain protein 3" - "isobutyrylglycine measurement" "exploratory eye movement measurement" + "isobutyrylglycine measurement" "blood vessel injury" "ETS domain-containing protein Elk-1 measurement" "N-acetylglycine measurement" @@ -28832,8 +28832,8 @@ "cerebellum cortex volume change measurement"@en "553B-mel" "obsolete_Theobromine measurement" - "gamma-delta thymocyte" "level of bombesin receptor-activated protein C6orf89 in blood serum" + "gamma-delta thymocyte" "melanoma-associated antigen 8" "obsolete_benign familial mesial temporal lobe epilepsy" "acetyl-coenzyme A synthetase, cytoplasmic" @@ -28864,9 +28864,9 @@ "1,3,7-trimethylurate measurement" "1-oleoylglycerol" "Gaucher disease type 1" - "GM17776" "Benign essential blepharospasm" "Shaken Baby Syndrome" + "GM17776" "Crohn ileitis" "kuru, susceptibility to" "congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency" @@ -28889,9 +28889,9 @@ "obsolete posterior fossa malformation" "Child Behaviour Checklist assessment" "obsolete_Prader-Willi syndrome due to imprinting mutation" - "N-acetylglucosaminylasparagine measurement" "leukosialin" "cholesterol in large HDL measurement " + "N-acetylglucosaminylasparagine measurement" "level of YTH domain-containing protein 1 in blood serum" "mediastinitis" "obsolete_Duchenne and Becker muscular dystrophy" @@ -28937,8 +28937,8 @@ "serum gamma-glutamyl transferase measurement" "parametrium malignant neoplasm" "obsolete_neurofibromatosis type 2" - "HCCLM-3" "autosomal recessive limb-girdle muscular dystrophy type 2T" + "HCCLM-3" "melusin measurement" "level of opiorphin prepropeptide in blood serum" "Mt-0" @@ -29098,9 +29098,9 @@ "Galloway-Mowat syndrome 10" "GM17262" "demyelinating polyneuropathy" - "protein phosphatase 1L" "dense deposit disease" "Glycine max" + "protein phosphatase 1L" "GM12043" "familial mucolipidosis" "spermatogenic failure 47" @@ -29111,11 +29111,11 @@ "intracranial embolism" "ML-DmD20-c5" "Autosomal dominant Charcot-Marie-Tooth disease type 2B" + "biological process involved in symbiotic interaction" "level of heterogeneous nuclear ribonucleoprotein A1 in blood serum" "level of cAMP-dependent protein kinase type II-alpha regulatory subunit in blood serum" "knock in expression" "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase" - "biological process involved in symbiotic interaction" "cranioectodermal dysplasia" "obsolete_response to triamcinolone acetonide" "obsolete_skin fragility-woolly hair-palmoplantar keratoderma syndrome" @@ -29125,14 +29125,14 @@ "Abnormality of T cell physiology" "gene expression protocol" "vaginal inflammation" - "C-type lectin domain family 10 member A measurement" "esterase OVCA2" "Corynebacterium glutamicum" + "C-type lectin domain family 10 member A measurement" "small adipocyte" "Abnormal circulating lactate dehydrogenase concentration" "delayed reward discounting measurement" - "Siddiqi syndrome" "female reproductive endometrioid cancer" + "Siddiqi syndrome" "zinc finger protein 415" "obsolete_Coats plus syndrome" "partial duplication of the short arm of chromosome 16" @@ -29148,16 +29148,16 @@ "childhood teratoma of the ovary" "level of mitochondrial glycine transporter in blood serum" "radio-renal syndrome" + "decidual natural killer cell, human" "Tracheal Squamous Cell Carcinoma" "N-palmitoyl-sphinganine (d18:0/16:0) measurement" - "decidual natural killer cell, human" "8305C" "inherited lipoic acid biosynthesis defect" "ventral striatum" "telangiectasia, hereditary hemorrhagic, type 1" "mass percent" - "PCWH syndrome" "Met5A" + "PCWH syndrome" "Charcot-Marie-Tooth disease type 2B2" "pituitary gland infarction" "ankyrin repeat domain-containing protein 1" @@ -29174,8 +29174,8 @@ "Lactobacillus casei" "obsolete_hirsutism-skeletal dysplasia-intellectual disability syndrome" "level of dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial in blood serum" - "wheezing" "X-12544 measurement" + "wheezing" "prohemocyte (sensu Nematoda and Protostomia)" "acute myeloid leukemia with multilineage dysplasia" "level of Phosphatidylcholine (16:0_20:1) in blood serum" @@ -29183,17 +29183,17 @@ "level of synaptotagmin-like protein 2 in blood serum" "3-Indolepropionic acid to D-Fructose ratio" "X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction" - "PDZK1-interacting protein 1 measurement" "MDCC-MSB1" "obsolete_back" + "PDZK1-interacting protein 1 measurement" "inherited Fanconi renotubular syndrome" "listeriosis" "Oligodontia - cancer predisposition syndrome" "Short long bone" "basal-like breast carcinoma" "tubulin--tyrosine ligase measurement" - "X-21796 measurement" "C2BBe1" + "X-21796 measurement" "fraction D precursor B cell" "RCBTB1-related retinopathy" "ureterolithiasis" @@ -29240,9 +29240,9 @@ "propionylglycine measurement" "obsolete_progressive myoclonic epilepsy type 3" "leukocyte immunoglobulin-like receptor subfamily A member 4 measurement" + "Lipodystrophy - intellectual disability - deafness" "paranasal sinus cancer" "teneurin-4" - "Lipodystrophy - intellectual disability - deafness" "Joubert syndrome 5" "obsolete juvenile absence epilepsy" "breast cancer stage" @@ -29366,8 +29366,8 @@ "TERV" "obsolete_Colobomatous microphthalmia" "duodenitis" - "SNU-251"@en "childhood oligodendroglioma" + "SNU-251"@en "CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma" "level of sorting nexin-12 in blood serum" "androstenediol (3alpha, 17alpha) monosulfate (2) measurement" @@ -29390,9 +29390,9 @@ "activated protein C measurement" "level of nuclear receptor 2C2-associated protein in blood serum" "kidney disease" + "obsolete_Muckle-Wells syndrome" "cochlin" "Branchio-otic syndrome" - "obsolete_Muckle-Wells syndrome" "geographic tongue" "BALB/cAnN" "osteosclerotic metaphyseal dysplasia" @@ -29521,8 +29521,8 @@ "trans,trans-Muconic acid measurement" "level of O-phosphoseryl-tRNA(Sec) selenium transferase in blood serum" "Senior-Boichis syndrome" - "post-infectious disorder" "methyl-cpg-binding domain protein 4 measurement" + "post-infectious disorder" "obsolete_SR-786" "obsolete_Emery-Nelson syndrome" "idiopathic" @@ -29540,19 +29540,19 @@ "X-linked intellectual disability - acromegaly - hyperactivity" "Gingival bleeding" "Nephrogenic diabetes insipidus - intracranial calcification" - "CS57521" "potassium voltage-gated channel subfamily E member 3 measurement" + "CS57521" "1-methylurate measurement" "estrogen measurement"@en "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" - "KHM-1B" "dynein light chain Tctex-type 1" + "KHM-1B" "amyloidosis, primary localized cutaneous, 1" "growth arrest-specific protein 6" "fallopian tube serous adenofibroma" @@ -29641,9 +29641,9 @@ "fumarate measurement"@en "congenital plasminogen activator inhibitor type 1 deficiency" "level of ADP-ribosylation factor 4 in blood serum" + "obsolete_hyperprolinemia type 2" "obsolete paralytic facial malformation" "ectopic hormone secretion syndrome associated with neoplasia" - "obsolete_hyperprolinemia type 2" "platelet alpha granule" "Juvenile onset" "orofaciodigital syndrome I" @@ -29667,8 +29667,8 @@ "metabolic myopathy due to lactate transporter defect" "obsolete_Char syndrome" "follicular lymphoma" - "obsolete_disorder of catecholamine synthesis" "dietary fiber intake measurement" + "obsolete_disorder of catecholamine synthesis" "Autosomal dominant optic atrophy and late-onset deafness" "obsolete_swim bladder" "39S ribosomal protein L34, mitochondrial measurement" @@ -29706,9 +29706,9 @@ "5alpha-pregnane-3beta,20alpha-diol disulfate" "angiomyolipoma" "obsolete_maternal uniparental disomy of chromosome 20" - "frostbite" "cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies" "level of serine palmitoyltransferase 1 in blood serum" + "frostbite" "glutathione peroxidase 3" "obsolete_partial deletion of chromosome 4" "congenital heart defects, multiple types, 1, X-linked" @@ -29783,8 +29783,8 @@ "CD27 antigen measurement" "2-nitrofluorene" "alpha-linolenate" - "increased amount" "ACys amyloidosis" + "increased amount" "auditory system cancer" "obsolete_familial steroid-resistant nephrotic syndrome with sensorineural deafness" "Rickettsia conorii" @@ -29851,9 +29851,9 @@ "obsolete_retinal macular dystrophy type 2" "collagen alpha-2(VI) chain" "palmdelphin" + "Chitayat syndrome" "Connective tissue disorder due to lysyl hydroxylase-3 deficiency" "maculopapular cutaneous mastocytosis" - "Chitayat syndrome" "TCam-2" "Transitional Cell Carcinoma" "Huntington disease-like syndrome due to C9ORF72 expansions" @@ -29902,8 +29902,8 @@ "alopecia universalis congenita" "AT-rich interactive domain-containing protein 1A" "myopathy with abnormal lipid metabolism" - "CAL-12T" "X-21803 measurement" + "CAL-12T" "CD22-positive, CD38-low small pre-B cell" "intellectual disability, autosomal dominant 58" "Radial deficiency - tibial hypoplasia" @@ -29913,8 +29913,8 @@ "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" "Senior-Loken syndrome 6" "cortical opacity measurement" @@ -29950,7 +29950,6 @@ "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" @@ -29958,6 +29957,7 @@ "isolated delta-storage pool disease" "Pulmonary lymphangiectasia" "Lafora disease" + "Genetic cardiac tumor" "intracranial hypertension" "cardiac rhythm disease" "20q11.2 microduplication syndrome" @@ -30082,8 +30082,8 @@ "breast pressure measurement" "gastroduodenitis" "obsolete_distal arthrogryposis" - "level of sorting nexin-15 in blood serum" "blood rubidium measurement"@en + "level of sorting nexin-15 in blood serum" "Narrow nasal base" "androstenediol (3alpha, 17alpha) monosulfate (3) measurement" "obsolete_GM2 gangliosidosis" @@ -30112,14 +30112,14 @@ "visceral heterotaxy" "obsolete_atrial myocardium" "IRIDA syndrome" - "obsolete_Mucolipidosis type II" "dihydropteridine reductase deficiency" + "obsolete_Mucolipidosis type II" "probable aminopeptidase NPEPL1" "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" @@ -30138,8 +30138,8 @@ "leucine-rich repeat serine/threonine-protein kinase 2 measurement" "mirror polydactyly-vertebral segmentation-limbs defects syndrome" "stem Cell Growth Factor-beta measurement" - "renovascular hypertension" "appetite-regulating hormone measurement" + "renovascular hypertension" "R11" "splenogonadal fusion-limb defects-micrognathia syndrome" "Swiss3" @@ -30159,16 +30159,16 @@ "GM12234" "congenital pseudoarthrosis of the ulna" "eukaryotic translation initiation factor 1A, X-chromosomal measurement" + "concentration of medium LDL particles measurement" "diacylglycerol 34:0 measurement" "Abnormality of mouth shape" - "concentration of medium LDL particles measurement" + "3-methylhistidine measurement" "hip bone mineral density" "obsolete autosomal dominant limb-girdle muscular dystrophy type 1A" "SiHa" - "3-methylhistidine measurement" + "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" @@ -30190,10 +30190,10 @@ "Charcot-Marie-Tooth disease, demyelinating, IIA 1H" "cerebral white matter volume change measurement"@en "obsolete_Bloom syndrome" + "LCL2" "GM17271" "obsolete_tetralogy of fallot" "mature Vgamma2-positive thymocyte" - "LCL2" "dye swap quality control role"@en "dye swap quality control role" "Marshall-Smith syndrome" @@ -30206,10 +30206,10 @@ "obsolete inborn disorder of gamma-aminobutyric acid metabolism" "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial measurement" "Ureter Small Cell Carcinoma" - "Glucose-6-phosphate" "obsolete_animal fluid" "beta-defensin 113" "level of Friend leukemia integration 1 transcription factor in blood serum" + "Glucose-6-phosphate" "level of low-density lipoprotein receptor-related protein 6 in blood serum" "centromere protein V" "X-linked Charcot-Marie-Tooth disease type 5" @@ -30246,8 +30246,8 @@ "shigella seropositivity" "GM17212" "carnitine" - "antennal primordium" "occupational asthma" + "antennal primordium" "congenital multicore myopathy with external ophthalmoplegia" "obsolete_congenital lobar emphysema" "Right ventricular hypertrophy" @@ -30272,9 +30272,9 @@ "gallbladder leiomyoma" "X-linked intellectual disability, Turner type" "pregnancy-specific beta-1-glycoprotein 9 measurement" + "obsolete_CODAS syndrome" "peroxisome biogenesis disorder 1A (Zellweger)" "zone of skin" - "obsolete_CODAS syndrome" "sex hormone measurement"@en "Unilateral renal agenesis" "CaHPV10" @@ -30587,8 +30587,8 @@ "obsolete_spinocerebellar ataxia type 18" "epithelioid type angiomyolipoma" "obsolete_Turner syndrome due to structural X chromosome anomalies" - "CS57677" "obsolete_maternal uniparental disomy of chromosome 21" + "CS57677" "cytokine receptor-like factor 1:cardiotrophin-like cytokine factor 1 complex measurement" "level of inositol 1,4,5-triphosphate receptor associated 2 in blood serum" "thioredoxin domain-containing protein 11 measurement" @@ -30685,9 +30685,9 @@ "germinoma" "duodenal obstruction" "Swiss22" - "obsolete_partial deletion of the long arm of chromosome 12" - "site" "Benign Conjunctival Neoplasm" + "site" + "obsolete_partial deletion of the long arm of chromosome 12" "progressive deafness with stapes fixation" "obsolete_Schinzel-Giedion syndrome" "obsolete_X-linked intellectual disability, Schutz type" @@ -30768,8 +30768,8 @@ "diabetes mellitus, insulin-dependent, X-linked, susceptibility to" "NTF2-related export protein 1" "obsolete_Muenke syndrome" - "Steinert myotonic dystrophy" "cancer/testis antigen 55 (human)" + "Steinert myotonic dystrophy" "salicylic acid measurement"@en "level of Phosphatidylcholine (O-16:1_20:3) in blood serum" "Reduced factor VII activity" @@ -30785,9 +30785,8 @@ "adapter molecule CRK measurement" "level of KH domain-containing RNA-binding protein QKI in blood serum" "dihomo-linolenoyl-choline measurement" - "peptide measurement"@en - "premature menopause" "root tip" + "premature menopause" "obsolete_ventricular myocardium" "hypertrophy" "non-small cell lung adenocarcinoma" @@ -30797,6 +30796,7 @@ "High anterior hairline" "cryptosporidiosis-chronic cholangitis-liver disease syndrome" "discretized differential expression" + "peptide measurement"@en "KMS-34" "Physcomitrella patens" "obsolete_humero-radial synostosis, bilateral" @@ -30855,8 +30855,8 @@ "diabetes insipidus, nephrogenic, autosomal" "listeriolysin" "steroidogenic acute regulatory protein, mitochondrial measurement" - "retinal artery occlusion" "Tube feeding" + "retinal artery occlusion" "NCI-H2073" "Swiss5" "beta thalassemia" @@ -30958,14 +30958,14 @@ "prostaglandin reductase 1 measurement" "level of anosmin-1 in blood serum" "X-23662 measurement" - "level of transcriptional repressor protein YY1 in blood serum" "isocitrate dehydrogenase [NADP] cytoplasmic" + "level of transcriptional repressor protein YY1 in blood serum" "familial prostate carcinoma" "obsolete_adenohypophyseal placode" "hyperinsulinism-hyperammonemia syndrome" "level of Phosphatidylcholine (O-16:0_18:2) in blood serum" - "indoleacetate-to-N2,N2-dimethylguanosine ratio" "obsolete_X-linked complex spastic paraplegia" + "indoleacetate-to-N2,N2-dimethylguanosine ratio" "clustered mitochondria protein homolog" "level of transcription elongation factor A protein 2 in blood serum" "pituitary adenylate cyclase-activating polypeptide 27 measurement" @@ -30978,8 +30978,8 @@ "Progressive hearing impairment" "NCI-H2106" "level of catenin alpha-1 in blood serum" - "alanine aminotransferase 1 measurement" "Golgi phosphoprotein 3" + "alanine aminotransferase 1 measurement" "neurodevelopmental disorder with central and peripheral motor dysfunction" "posthitis" "level of Ras-related protein Rab-38 in blood serum" @@ -31096,10 +31096,10 @@ "level of plastin-2 in blood serum" "sweet beverage consumption measurement" "SU-DHL-8" - "synaptotagmin-8 measurement" "level of glutathione S-transferase theta-2 in blood serum" - "stromal membrane-associated protein 1" "Medial Tibial Stress Syndrome" + "synaptotagmin-8 measurement" + "stromal membrane-associated protein 1" "male breast carcinoma" "velo-facial-skeletal syndrome" "DMS-Seq" @@ -31152,8 +31152,8 @@ "obsolete_ethylmalonic encephalopathy" "lysosomal acid phosphatase measurement" "pharyngula prim-15" - "2-hydroxybehenate measurement" "serum albumin measurement" + "2-hydroxybehenate measurement" "caspase recruitment domain-containing protein 9" "Leber congenital amaurosis 17" "level of homeobox protein Hox-A5 in blood serum" @@ -31221,8 +31221,8 @@ "SSB-Seq" "obsolete_benign recurrent intrahepatic cholestasis type 2" "wnt inhibitory factor 1 measurement" - "vesicle-associated membrane protein 1" "ptosis-syndactyly-learning difficulties syndrome" + "vesicle-associated membrane protein 1" "obsolete_congenital ectropion" "short-rib thoracic dysplasia 6 with or without polydactyly" "Congenital intestinal disease due to an enzymatic defect" @@ -31245,8 +31245,8 @@ "oculopharyngodistal myopathy" "mitochondrial haplogroup carrier status"@en "obsolete_ventricular system" - "2-arachidonoyl-sn-glycero-3-phosphocholine" "blood protein measurement" + "2-arachidonoyl-sn-glycero-3-phosphocholine" "obsolete congenital absence/hypoplasia of thumb, unilateral" "cutaneous porphyria" "level of protein-tyrosine phosphatase mitochondrial 1 in blood serum" @@ -31267,9 +31267,9 @@ "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" @@ -31279,8 +31279,8 @@ "Clark level II" "level of DDB1- and CUL4-associated factor 11 in blood serum" "hypoplastic left heart syndrome 2" - "Disorder of bile acid synthesis" "obsolete_ureter" + "Disorder of bile acid synthesis" "novobiocin" "neuropathy, congenital hypomelinating" "tongue neoplasm" @@ -31388,8 +31388,8 @@ "variegate porphyria" "Pes cavus" "level of mitogen-activated protein kinase kinase kinase kinase 5 in blood serum" - "1-docosapentaenoyl-GPC (22:5n6) measurement" "all-cis-octadeca-6,9,12,15-tetraenoic acid" + "1-docosapentaenoyl-GPC (22:5n6) measurement" "obsolete_autosomal dominant distal myopathy" "level of kelch-like protein 12 in blood serum" "level of ADAM DEC1 in blood serum" @@ -31506,8 +31506,8 @@ "Flushing" "ovary" "annexin A6 measurement" - "Knobloch syndrome 1" "Secondary microcephaly" + "Knobloch syndrome 1" "Wolcott-Rallison syndrome" "obsolete_Lowry-MacLean syndrome" "REN" @@ -31735,10 +31735,10 @@ "coiled-coil domain-containing protein 80 measurement" "obsolete_Jackson-Weiss syndrome" "speech disorder" + "DNA-binding protein inhibitor ID-2 measurement" "arachindonoyl phenylalanine measurement" "cervical dystonia" "level of beta-1,3-N-acetylglucosaminyltransferase manic fringe in blood serum" - "DNA-binding protein inhibitor ID-2 measurement" "L-Threonine measurement" "obsolete_ghosal hematodiaphyseal dysplasia" "PHARC syndrome" @@ -31815,10 +31815,10 @@ "familial hypocalciuric hypercalcemia 3" "Tay-Sachs disease, B1 variant" "obsolete_Usher syndrome type 2" + "triglycerides in medium HDL measurement " "sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis" "Ellis-van Creveld syndrome" "total brassicasterol measurement"@en - "triglycerides in medium HDL measurement " "obsolete_Richieri Costa-Pereira syndrome" "arginase-1 measurement" "E3 ubiquitin-protein ligase CHIP measurement" @@ -31913,11 +31913,11 @@ "antibody mediated epilepsy" "Abnormal cerebral white matter morphology" "polypeptide N-acetylgalactosaminyltransferase 14" - "isolated sedoheptulokinase deficiency" "level of TNFAIP3-interacting protein 1 in blood serum" + "isolated sedoheptulokinase deficiency" "CXCL6 measurement" - "lateral orbital frontal cortex volume measurement"@en "spliceosome RNA helicase DDX39B measurement" + "lateral orbital frontal cortex volume measurement"@en "level of ADP-ribosylation factor GTPase-activating protein 1 in blood serum" "CS57716" "X-13844 measurement" @@ -32015,8 +32015,8 @@ "Reticulocyte Mean Corpuscular Hemoglobin Measurement" "level of galactoside alpha-(1,2)-fucosyltransferase 2 in blood serum" "high affinity cgmp-specific 3',5'-cyclic phosphodiesterase 9a measurement" - "qualitative or quantitative defects of TRIM32" "verbal memory measurement" + "qualitative or quantitative defects of TRIM32" "Freeman-Sheldon syndrome" "intermediate nemaline myopathy" "Enterococcus faecalis" @@ -32080,9 +32080,9 @@ "obsolete_Ehlers-Danlos syndrome type 11" "indoleacetate measurement" "obsolete autosomal trisomy" + "obsolete_McDonough syndrome" "Broad-based gait" "esophagogastric junction" - "obsolete_McDonough syndrome" "transmembrane protein 2 measurement" "esophageal lipoma" "Mungan syndrome" @@ -32098,9 +32098,9 @@ "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" @@ -32118,13 +32118,13 @@ "spinal cord lymphoma" "Orientia tsutsugamushi" "neurodevelopmental disorder with or without variable movement or behavioral abnormalities" - "EEG with generalized epileptiform discharges" "cholesteryl ester 17:0 measurement" + "EEG with generalized epileptiform discharges" "glycerophosphoserine" - "level of adaptin ear-binding coat-associated protein 2 in blood serum" + "Hypotrichosis - lymphedema - telangiectasia" "Burkholderia lata" + "level of adaptin ear-binding coat-associated protein 2 in blood serum" "distal convoluted tubule" - "Hypotrichosis - lymphedema - telangiectasia" "Tarlov Cysts" "9q31.1q31.3 microdeletion syndrome" "Undifferentiated Gallbladder Carcinoma" @@ -32351,8 +32351,8 @@ "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" @@ -32405,8 +32405,8 @@ "Aureococcus anophagefferens" "Gastrointestinal dysmotility" "immediate early response 3-interacting protein 1 measurement" - "glycosyl ceramide (d18:2/24:1, d18:1/24:2) measurement" "level of uncharacterized protein C20orf173 (human) in blood serum" + "glycosyl ceramide (d18:2/24:1, d18:1/24:2) measurement" "phytanate measurement" "paraquat dichloride" "alcohol drinking" @@ -32437,8 +32437,8 @@ "DNA-binding protein SATB1 measurement" "protein measurement" "tumor necrosis factor, receptor superfamily, member 5 measurement"@en - "Swiss9" "skin carcinoma" + "Swiss9" "body ratio measurement" "obsolete_distal trisomy 2q" "phosphatidylcholine acyl-alkyl C34:2 measurement" @@ -32449,9 +32449,9 @@ "partial deletion of chromosome 2" "Fuhrmann syndrome" "nectin-3 measurement" - "obsolete_incontinentia pigmenti" "Uterine Carcinosarcoma" "obsolete_appendage" + "obsolete_incontinentia pigmenti" "malignant testicular Leydig cell tumor" "cerebral amyloid angiopathy, APP-related" "level of protein BUD31 in blood serum" @@ -32578,8 +32578,8 @@ "phosphatidylcholine acyl-alkyl C40:1 measurement" "protein disulfide-isomerase a3 measurement" "oenocyte primordium" - "relapsing polychondritis" "familial encephalopathy with neuroserpin inclusion bodies" + "relapsing polychondritis" "myopic macular degeneration" "transport" "colon carcinoma" @@ -32692,8 +32692,8 @@ "obsolete_posterior cingulate cortex" "S-adenosylhomocysteine measurement"@en "putative deoxyribonuclease TATDN3" - "CB88" "sulfhydryl oxidase 1" + "CB88" "obsolete organic substance biosynthetic process" "hydrocephalus, congenital, 5, susceptibility to" "N-oleoyltaurine measurement" @@ -32836,8 +32836,8 @@ "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" @@ -32915,8 +32915,8 @@ "hyphal cell" "level of dual specificity protein phosphatase 21 in blood serum" "wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome" - "indole-3-acetate" "protein Aster-C" + "indole-3-acetate" "iris cancer" "neutral lipid storage disease" "phosphatidylcholine O-42:5" @@ -32925,9 +32925,9 @@ "Homovanillic acid measurement" "BAG family molecular chaperone regulator 4 measurement" "tryptase alpha/beta-1" - "trichodental syndrome" "anal canal neuroendocrine neoplasm" "Hepatic failure" + "trichodental syndrome" "Reticulocyte Corpuscular Hemoglobin Content" "computer" "obsolete_transient neonatal multiple acyl-CoA dehydrogenase deficiency" @@ -32950,8 +32950,8 @@ "pantothenate kinase 3" "collagen type II trimer" "X-15666 measurement" - "insulin growth factor-like family member 3 measurement" "level of N-acetylglucosamine in blood" + "insulin growth factor-like family member 3 measurement" "WAP four-disulfide core domain protein 2" "obsolete_transaldolase deficiency" "G1E-ER4" @@ -33015,9 +33015,9 @@ "obsolete_geniculate nucleus" "vertebral canal" "spina bifida" - "phosphoglyceric acid measurement"@en "Ovarian Hyperandrogenism" "processed genotype data file" + "phosphoglyceric acid measurement"@en "Ran GTPase-activating protein 1" "myoclonic cerebellar dyssynergia" "aortic aneurysm, familial thoracic 6" @@ -33076,8 +33076,8 @@ "level of signal-transducing adaptor protein 1 in blood serum" "inborn carbohydrate metabolic disorder" "obsolete_maternally-inherited Leigh syndrome" - "hypophosphatemia" "protein C-ets-2 measurement" + "hypophosphatemia" "semaphorin-4F" "larynx verrucous carcinoma" "ankle brachial index" @@ -33115,8 +33115,8 @@ "obsolete_Cleft lip/palate - ectodermal dysplasia" "free cholesterol in large LDL measurement" "3- 4-hydroxyphenyl lactate measurement" - "cerebellar volume measurement"@en "autosomal recessive congenital cerebellar ataxia" + "cerebellar volume measurement"@en "tachykinin-4" "fin" "choroid plexus macrophage" @@ -33201,8 +33201,8 @@ "sulindac sulfone" "obsolete_congenital insensitivity to pain with hyperhidrosis" "obsolete_ataxia-telangiectasia-like disorder" - "carcinoma in situ of ureter" "Robin sequence - oligodactyly" + "carcinoma in situ of ureter" "prostate and testis expressed protein 1" "level of transcription elongation factor A protein-like 2 in blood serum" "hydrocephalus-blue sclerae-nephropathy syndrome" @@ -33281,8 +33281,8 @@ "level of tenomodulin in blood serum" "Yersinia pestis infectious disease" "microglial activation measurement"@en - "obsolete_congenital plasminogen activator inhibitor type 1 deficiency" "Coimbra ecotype" + "obsolete_congenital plasminogen activator inhibitor type 1 deficiency" "CS57719" "Fanconi anemia complementation group D1" "X-14082 measurement" @@ -33391,8 +33391,8 @@ "palmitoleoylcarnitine (C16:1) measurement" "left ventricular ejection fraction measurement" "polydactyly of a biphalangeal thumb" - "CB128" "sulfhydryl oxidase 2" + "CB128" "neovascular glaucoma" "beta-crystallin B3" "linoleoylcarnitine (C18:2) measurement" @@ -33414,10 +33414,10 @@ "protein disulfide-isomerase measurement" "supraglottis cancer" "complement C4-A" + "lysozyme-like protein 2 measurement" "glaucoma-sleep apnea syndrome" "sinus histiocytosis with massive lymphadenopathy" "Fulminant hepatitis" - "lysozyme-like protein 2 measurement" "Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency" "Growth delay - hydrocephaly - lung hypoplasia" "epilepsy, juvenile absence, susceptibility to" @@ -33432,10 +33432,10 @@ "Heterochromia iridis" "Gly-Trp" "X-24949 measurement" - "obsolete_insulin-resistance syndrome type A" "GM17222" - "lobe attachment" + "obsolete_insulin-resistance syndrome type A" "level of interleukin-6 receptor subunit beta in blood serum" + "lobe attachment" "obsolete partial autosomal trisomy/tetrasomy" "obsolete_CNS brain hippocampus MMHCC" "GM17746" @@ -33483,8 +33483,8 @@ "NCI-H1355" "size" "coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial measurement" - "BFTC-909" "EP300-interacting inhibitor of differentiation 3 measurement" + "BFTC-909" "gamma-glutamylcysteine synthetase deficiency" "Congenital intestinal motility disorder" "platelet measurement" @@ -33553,12 +33553,12 @@ "platelet-activating factor measurement"@en "leucine-rich repeat-containing protein 3B" "Mus musculus strain type" - "Mandibulofacial dysostosis - macroblepharon - macrostomia" "level of lymphokine-activated killer T-cell-originated protein kinase in blood serum" "Methanobrevibacter ruminantium" "level of tRNA-specific adenosine deaminase 2 in blood serum" "Leber congenital amaurosis" "Mus musculus" + "Mandibulofacial dysostosis - macroblepharon - macrostomia" "disks large-associated protein 4" "Reduced circulating alpha-1-antitrypsin concentration" "phospholipids in small VLDL measurement" @@ -33678,8 +33678,8 @@ "Classical homocystinuria" "renal cell adenocarcinoma" "HCC2998" - "vulvar syringoma" "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency" + "vulvar syringoma" "nevus, epidermal" "glycosaminoglycan xylosylkinase" "SU-DHL-2" @@ -33762,8 +33762,8 @@ "lethal congenital glycogen storage disease of heart" "cyclic AMP-dependent transcription factor ATF-5" "invasive tubular breast carcinoma" - "level of steroidogenic acute regulatory protein, mitochondrial in blood serum" "obsolete_neuronal intranuclear inclusion disease" + "level of steroidogenic acute regulatory protein, mitochondrial in blood serum" "classic organic aciduria" "aortic measurement"@en "central bilateral macrogyria" @@ -33873,8 +33873,8 @@ "epidermolysis bullosa simplex 1A, generalized severe" "protein Mdm4" "CCD-16Lu" - "pili gemini" "tumor grade 3 or 4, general grading system" + "pili gemini" "glass-chapman-hockley syndrome" "Bothnia retinal dystrophy" "PDZ-Seq" @@ -33924,19 +33924,19 @@ "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" "obsolete_nephropathy secondary to a storage or other metabolic disease" "Tax1-binding protein 3" "level of COMM domain-containing protein 10 in blood serum" - "fenson measurement" "distal trisomy 4q" + "fenson measurement" "recorded follow-up status" - "heregulin B1" "arthrogryposis, Perthes disease, and upward gaze palsy" + "heregulin B1" "level of vitrin in blood serum" "central nervous system leiomyosarcoma" "GM12716" @@ -33988,12 +33988,12 @@ "level of troponin T, cardiac muscle in blood serum" "Williams syndrome" "pyridoxamine measurement"@en - "Co-1" "familial primary hypomagnesemia" "severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion" "tubby-related protein 1" - "obsolete immune-mediated acquired neuromuscular junction disease" + "Co-1" "GM13995" + "obsolete immune-mediated acquired neuromuscular junction disease" "autosomal recessive distal spinal muscular atrophy 2" "X-14939 measurement" "obsolete hernia of ovary and fallopian tube" @@ -34058,8 +34058,8 @@ "chronic cutaneous lupus erythematosus" "prostate and testis expressed protein 4 measurement" "sorbitol measurement"@en - "obsolete_adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy" "lamina propria of large intestine" + "obsolete_adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy" "N-palmitoyltaurine measurement" "4-Acetamidobutyric acid measurement" "Curry-Jones syndrome" @@ -34111,10 +34111,10 @@ "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" @@ -34126,10 +34126,10 @@ "GM17745" "obsolete_dentin dysplasia type I" "root meristem" - "uncharacterized protein KIAA1467 measurement" "transmembrane protein 87B measurement" - "mid whole plant fruit ripening stage" + "uncharacterized protein KIAA1467 measurement" "NCI-H1395" + "mid whole plant fruit ripening stage" "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss" "BHY" "progressive supranuclear palsy-progressive non-fluent aphasia syndrome" @@ -34305,8 +34305,8 @@ "spastic paraplegia 90B, autosomal recessive" "obsolete_kidney (Pan troglodytes)" "Benign Ovarian Mucinous Tumor" - "age of onset of depressive disorder" "prolylglycine measurement" + "age of onset of depressive disorder" "Intellectual disability - microcephaly - phalangeal - facial abnormalities" "obsolete_myoclonic-astastic epilepsy" "level of MICAL-like protein 1 in blood serum" @@ -34320,8 +34320,8 @@ "Rare genetic tumor" "syringoma" "familial multiple nevi flammei" - "curator" "heat shock 70 kDa protein 1-like measurement" + "curator" "hypomandibular faciocranial dysostosis" "level of tumor necrosis factor receptor superfamily member 3 in blood serum" "Rhagoletis pomonella" @@ -34330,8 +34330,8 @@ "nucleus" "level of mRNA decay activator protein ZFP36 in blood serum" "obsolete_Roch-Leri mesosomatous lipomatosis" - "nischarin measurement" "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" + "nischarin measurement" "CS57835" "CLN10 disease" "cocaine- and amphetamine-regulated transcript protein measurement" @@ -34460,9 +34460,9 @@ "D-glyceric aciduria" "high density lipoprotein particle size change measurement" "nanoliter" + "obsolete_lysosomal glycogen storage disease" "thymic medullary macrophage" "phoneme awareness"@en - "obsolete_lysosomal glycogen storage disease" "level of interferon regulatory factor 2 in blood serum" "Col-2" "level of thrombospondin-3 in blood serum" @@ -34524,10 +34524,10 @@ "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" @@ -34554,9 +34554,9 @@ "level of bone morphogenetic protein 4 in blood serum" "glucuronide of C10H18O2 (7) measurement" "salmeterol" + "myxedema" "CHRF-288"@en "CS57586" - "myxedema" "proteasome subunit alpha type-3" "aminomethyltransferase, mitochondrial" "combined oxidative phosphorylation defect type 14" @@ -34728,8 +34728,8 @@ "Stuve-Wiedemann syndrome 2" "glioma susceptibility 1" "dexamethasone" - "obsolete_beta-ureidopropionase deficiency" "obsolete_acute myeloid leukemia with CEBPA somatic mutations" + "obsolete_beta-ureidopropionase deficiency" "descending colon" "PE RAD-Seq" "anxiety disorder measurement" @@ -34780,11 +34780,11 @@ "Dandy-Walker syndrome" "malignant breast myoepithelioma" "Unsteady gait" - "beta-1,4-galactosyltransferase 7 measurement" "(15Z)-12-oxophyto-10,15-dienoic acid" + "beta-1,4-galactosyltransferase 7 measurement" + "breakfast skipping measurement" "6,7-dihydropteridine reductase activity" "level of Arg-Phe in blood" - "breakfast skipping measurement" "vortexer" "obsolete_posterior lateral line primordium" "esophageal disease" @@ -34806,11 +34806,11 @@ "antiemetic effect" "anatomical structure" "adult astrocytic tumor" - "obsolete_mild phenylketonuria" "obsolete_rapidly progressive glomerulonephritis" - "embryonic lethality" + "obsolete_mild phenylketonuria" "level of trinucleotide repeat-containing gene 6B protein in blood serum" "level of SLIT and NTRK-like protein 2 in blood serum" + "embryonic lethality" "primary tumor sample" "X-15245 measurement" "hyperparathyroidism 4" @@ -34897,10 +34897,10 @@ "hereditary ATTR amyloidosis" "biliary system" "level of sodium/potassium-transporting ATPase subunit gamma in blood serum" - "Blepharophimosis - ptosis - esotropia - syndactyly - short stature" "Alphavirus infectious disease" "M14" "obsolete qualitative or quantitative defects of fukutin" + "Blepharophimosis - ptosis - esotropia - syndactyly - short stature" "ergothioneine" "level of pyruvate carboxylase, mitochondrial in blood serum" "floral organ formation stage" @@ -34984,8 +34984,8 @@ "basophil measurement" "Amelogenesis imperfecta and gingival hyperplasia syndrome" "heat shock 70 kDa protein 6 measurement" - "NKG2-E type II integral membrane protein measurement" "Trichiasis" + "NKG2-E type II integral membrane protein measurement" "L1 larva" "severe intellectual disability-progressive spastic diplegia syndrome" "amyotrophic lateral sclerosis type 18" @@ -35006,8 +35006,8 @@ "gastric inhibitory polypeptide" "Athabaskan brainstem dysgenesis syndrome" "level of small nuclear ribonucleoprotein G in blood serum" - "amygdala volume change measurement"@en "level of KxDL motif-containing protein 1 in blood serum" + "amygdala volume change measurement"@en "coloboma, ocular, autosomal dominant" "colipase measurement" "epididymal secretory protein E3-beta measurement" @@ -35064,9 +35064,9 @@ "Rare disease with thoracic aortic aneurysm and aortic dissection" "Sarcomatoid Mesothelioma" "obsolete_middle temporal gyrus" - "cellular modification design" - "purine measurement"@en "AMSH-like protease measurement" + "purine measurement"@en + "cellular modification design" "Loeys-Dietz syndrome" "brachydactyly-mesomelia-intellectual disability-heart defects syndrome" "obsolete inherited renal cancer-predisposing syndrome" @@ -35085,8 +35085,8 @@ "intellectual disability, autosomal dominant 53" "susceptibility to rheumatic fever measurement" "postinfectious vasculitis" - "transmembrane protein 8B" "Craniodigital syndrome - intellectual disability" + "transmembrane protein 8B" "organelle organization" "level of transmembrane protein 52 in blood serum" "obsolete_polyglucosan body myopathy" @@ -35134,8 +35134,8 @@ "humeral agenesis/hypoplasia, bilateral" "brain glioma" "Indole-5-carboxylic acid measurement" - "Benign Ovarian Neoplasm" "Perrault syndrome" + "Benign Ovarian Neoplasm" "pseudopseudohypoparathyroidism" "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive" "Intellectual disability - myopathy - short stature - endocrine defect" @@ -35163,10 +35163,10 @@ "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" @@ -35249,7 +35249,6 @@ "Medullomyoblastoma with Myogenic Differentiation" "Reduced bone mineral density" "cardiac tuberculosis" - "obsolete_familial episodic pain syndrome" "lachnospiraceae seropositivity" "benign choroid plexus neoplasm" "brain injury" @@ -35257,6 +35256,7 @@ "Ophrys fusca" "obsolete_hypercalcemia" "neurensin-1" + "obsolete_familial episodic pain syndrome" "thymic large cell neuroendocrine carcinoma" "obsolete_floor of mouth" "KHYG-1" @@ -35315,18 +35315,18 @@ "gamma-carboxyglutamate measurement" "level of programmed cell death protein 6 in blood serum" "obsolete_neonatal glycine encephalopathy" - "loneliness 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" + "obsolete_granular corneal dystrophy type II" "cholesterol to total lipids in small LDL percentage " "dorsal raphe nucleus" - "obsolete_granular corneal dystrophy type II" "ML-DmBG1-c1" "Mycoplasma gallisepticum" "spondyloepiphyseal dysplasia" @@ -35557,8 +35557,8 @@ "transferrin receptor protein 2" "Weill-Marchesani syndrome" "Decreased circulating vitamin B12 concentration" - "alveolar soft part sarcoma" "coiled-coil domain-containing protein 89" + "alveolar soft part sarcoma" "retinitis pigmentosa 88" "narcolepsy-cataplexy syndrome" "trigeminal autonomic cephalalgia" @@ -35566,8 +35566,8 @@ "density unit" "Cutis laxa-Marfanoid syndrome" "phenyllactate-to-phenylalanine ratio"@en - "Rare female infertility due to adrenal disorder of genetic origin" "middle ear adenoma" + "Rare female infertility due to adrenal disorder of genetic origin" "obsolete_suprachiasmatic nucleus" "mosquito bite reaction size measurement" "obsolete_oculo-skeletal-renal syndrome" @@ -35605,12 +35605,12 @@ "fumaric aciduria" "level of frizzled-1 in blood serum" "obsolete_Laron syndrome with immunodeficiency" + "polyadenylate-binding protein-interacting protein 1 measurement" "lymphoma, non-human animal" "cyclosporin A" "skin disease" "ulnar nerve" "level of Leucyl-Asparagine in blood" - "polyadenylate-binding protein-interacting protein 1 measurement" "heparan sulfate glucosamine 3-O-sulfotransferase 4" "encephalopathy due to sulfite oxidase deficiency" "triglycerides in IDL measurement" @@ -35627,13 +35627,13 @@ "Qazi Markouizos syndrome" "Classical phenylketonuria" "congenital sucrase-isomaltase deficiency with starch intolerance" - "GM17128" "gamma-glutamylglutamate measurement" + "GM17128" "Non-familial restrictive cardiomyopathy" "phosphatidylcholine acyl-alkyl C38:5 measurement" - "N-acetyl-cadaverine measurement" "bile acid measurement" "ornithine decarboxylase" + "N-acetyl-cadaverine measurement" "neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment" "SW780" "level of gremlin-2 in blood serum" @@ -35649,10 +35649,10 @@ "level of synaptotagmin-6 in blood serum" "scopolamine" "Thymic Small Cell Carcinoma" - "X-24972 measurement" "level of coiled-coil domain-containing protein 9 in blood serum" "general vesicular transport factor p115" "Apis mellifera mellifera" + "X-24972 measurement" "Personality disorder" "cytochrome c oxidase subunit 5B, mitochondrial" "level of carcinoembryonic antigen-related cell adhesion molecule 7 in blood serum" @@ -35685,8 +35685,8 @@ "obsolete_congenital patella dislocation" "hematopoietic progenitor cell antigen CD34 measurement" "septopreoptic holoprosencephaly" - "SUM185PE" "ancylostomiasis" + "SUM185PE" "level of protein FAM3A in blood serum" "homogentisate measurement" "rRNA methyltransferase 2, mitochondrial" @@ -35799,15 +35799,15 @@ "obsolete_congenital absence/hypoplasia of fingers excluding thumb" "titin" "lymphatic malformation 12" + "obsolete_TARP syndrome" "level of ubiquitin domain-containing protein 2 in blood serum" "X-11850 measurement" - "obsolete_TARP syndrome" "obsolete_Inositol measurement" "obsolete_nonepidermolytic palmoplantar keratoderma" "disorder of folate metabolism and transport" "Nephrogenic rest" - "X-24337 measurement" "pulmonary fibrosis and/or bone marrow failure, telomere-related" + "X-24337 measurement" "post operative nausea and vomiting" "response to zonisamide"@en "dual specificity protein phosphatase 6 measurement" @@ -35906,8 +35906,8 @@ "biological variation design" "glycine conjugate of C10H12O2 measurement" "lip and oral cavity carcinoma" - "kell blood group glycoprotein" "buthionine sulfoximine measurement" + "kell blood group glycoprotein" "congenital heart defects, multiple types, 3" "hereditary recurrent myoglobinuria" "2-palmitoyl-GPE (16:0) measurement" @@ -36004,9 +36004,9 @@ "West Nile virus, susceptibility to" "Vitis rotundifolia" "disorder of uterine broad ligament" + "obsolete_autosomal recessive omodysplasia" "cullin-4B" "rigid spine syndrome" - "obsolete_autosomal recessive omodysplasia" "hydroxide measurement"@en "level of histone H1.10 in blood serum" "Monomelic amyotrophy" @@ -36046,13 +36046,13 @@ "1-palmitoyl-GPI (16:0) measurement" "triacylglycerol 51:2 measurement" "Ficoll-Hypaque method" + "Methicillin-Resistant Staphylococcus Aureus Pneumonia" "macrocephaly-autism syndrome" "intellectual disability-facial dysmorphism-hand anomalies syndrome" - "Methicillin-Resistant Staphylococcus Aureus Pneumonia" "lipoma of face" + "partial duplication of the short arm of chromosome 4" "vaginal carcinoma" "bone marrow neoplasm" - "partial duplication of the short arm of chromosome 4" "Salmonella enterica subsp. indica" "icos ligand measurement" "psoriatic arthritis, susceptibility to" @@ -36078,11 +36078,11 @@ "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" "ectonucleoside triphosphate diphosphohydrolase 3 measurement" "level of spermatogenesis-associated protein 22 in blood serum" @@ -36126,13 +36126,13 @@ "homocystinuria without methylmalonic aciduria" "level of gamma-aminobutyric acid receptor-associated protein-like 1 in blood serum" "arachidonate 15-lipoxygenase B measurement" - "stearidonate 18:4n3 measurement" "retinitis pigmentosa 9 protein" + "stearidonate 18:4n3 measurement" "HT1197" "telencephalon" + "obsolete_Charcot-Marie-Tooth disease type 4H" "skeleton" "hypopituitarism" - "obsolete_Charcot-Marie-Tooth disease type 4H" "carotene diol (2) measurement" "level of pantetheine hydrolase VNN2 in blood serum" "occult macular dystrophy" @@ -36148,8 +36148,8 @@ "SNU-C1" "beta-defensin 106 measurement" "Pseudomonas putida" - "egg cell" "response to diet"@en + "egg cell" "mosaic trisomy 18" "receptor-transporting protein 4" "obsolete_non neural ectoderm" @@ -36233,9 +36233,9 @@ "stanniocalcin-1 measurement" "lateral nasal prominence" "meiotic cell cycle" + "obsolete_autosomal recessive syndromic cerebellar ataxia" "orofaciodigital syndrome IV" "SW756" - "obsolete_autosomal recessive syndromic cerebellar ataxia" "pontocerebellar hypoplasia type 10" "obsolete_MRCS syndrome" "oxidoreductase HTATIP2 measurement" @@ -36250,8 +36250,8 @@ "sample barcode offset" "diltiazem" "obsolete_autosomal dominant proximal renal tubular acidosis" - "Rho-related GTP-binding protein RhoE" "acesulfame measurement" + "Rho-related GTP-binding protein RhoE" "CD4-positive type I NK T cell" "level of nuclear factor of activated T-cells, cytoplasmic 1 in blood serum" "protein S measurement" @@ -36306,10 +36306,10 @@ "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" @@ -36321,8 +36321,8 @@ "sorting nexin-17" "Ambras type hypertrichosis universalis congenita" "rhombomere 8" - "Rhizobium etli CFN 42" "Narrow face" + "Rhizobium etli CFN 42" "chromosome 17p13.3 duplication syndrome" "beta-1,4-glucuronyltransferase 1 measurement" "BMP receptor type-1B" @@ -36336,8 +36336,8 @@ "GM17790" "pneumococcal pneumonia" "reticulate acropigmentation of Kitamura" - "fibrinopeptide A measurement" "diaphragmitis" + "fibrinopeptide A measurement" "ovarian serous cystadenofibroma" "spinocerebellar ataxia type 37" "corpus striatum" @@ -36364,8 +36364,8 @@ "obsolete_Primary familial polycythemia" "neuropilin-1 measurement" "Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3" - "level of glycine N-acyltransferase-like protein 2 in blood serum" "obsolete_GM1 gangliosidosis type 1" + "level of glycine N-acyltransferase-like protein 2 in blood serum" "hypomagnesemia, seizures, and intellectual disability" "congenital sucrase-isomaltase deficiency with minimal starch tolerance" "HOS" @@ -36420,8 +36420,8 @@ "inherited prion disease" "TraDIS sequencing" "follicular dendritic cell" - "anisakiasis" "SUM190PT" + "anisakiasis" "benign neoplasm of ear" "level of clathrin heavy chain 1 in blood serum" "nevoid basal cell carcinoma syndrome" @@ -36429,9 +36429,9 @@ "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" @@ -36457,8 +36457,8 @@ "disease related to transplantation" "obsolete_oculocutaneous albinism type 3" "Charcot-Marie-Tooth disease type 2A2" - "colorectal adenoma" "pneumoviridae seropositivity" + "colorectal adenoma" "anal canal" "spondylocarpotarsal synostosis syndrome" "gender identity disorder" @@ -36484,8 +36484,8 @@ "1-(1-enyl-stearoyl)-2-linoleoyl-GPC (P-18:0/18:2) measurement" "obsolete_NCIH460" "level of pterin-4-alpha-carbinolamine dehydratase in blood serum" - "leukodystrophy, hypomyelinating, 15" "consomic strain" + "leukodystrophy, hypomyelinating, 15" "obsolete_presumptive rhombomere 6" "Drosophila sechellia" "pectoral muscle" @@ -36556,8 +36556,8 @@ "ectoderm" "functional gastric disease" "autosomal recessive limb-girdle muscular dystrophy type 2D" - "Ehlers-Danlos syndrome, vascular type" "occupational dermatitis" + "Ehlers-Danlos syndrome, vascular type" "Scyliorhinus canicula" "level of multiple inositol polyphosphate phosphatase 1 in blood serum" "aquaporin-4" @@ -36566,8 +36566,8 @@ "brainstem" "epithelium of mammary gland" "calcium channel activity" - "UACC-257" "Colorectal Adenosquamous Carcinoma" + "UACC-257" "GM17110" "level of PDZ and LIM domain protein 4 in blood serum" "OCI-AML5" @@ -36664,8 +36664,8 @@ "H-4-II-E" "obsolete_wing" "leukoencephalopathy, progressive, infantile-onset, with or without deafness" - "level of triacylglycerol (56:6) in blood serum" "executive function measurement" + "level of triacylglycerol (56:6) in blood serum" "mating type h minus" "Sex Hormone-Producing Adrenal Cortex Adenoma" "docosahexaenoylcholine measurement" @@ -36718,8 +36718,8 @@ "Colorectal Gastrointestinal Stromal Tumor" "glomerular capsule" "level of statherin in blood serum" - "inborn disorder of neurotransmitter metabolism and transport" "haploid deletion library" + "inborn disorder of neurotransmitter metabolism and transport" "split hand-foot malformation" "premature birth" "obsolete_desmin-related myopathy with Mallory body-like inclusions" @@ -36783,8 +36783,8 @@ "hemophagocytic syndrome" "purine nucleoside monophosphate metabolic process" "obsolete_epithelial recurrent erosion dystrophy" - "Single transverse palmar crease" "Rare hereditary systemic disease with peripheral neuropathy" + "Single transverse palmar crease" "channelopathy-associated congenital insensitivity to pain, autosomal recessive" "substance-induced psychosis" "MGR3" @@ -36832,7 +36832,6 @@ "adult spinal cord glioblastoma" "level of coagulation factor XI in blood serum" "U6 snRNA-associated Sm-like protein LSm1" - "obsolete_Charcot-Marie-Tooth disease type 4B1" "level of ribosome biogenesis protein SPATA5 in blood serum" "ovarian clear cell adenocarcinoma" "blood strontium measurement"@en @@ -36841,6 +36840,7 @@ "Neisseria meningitidis MC58" "institution" "central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease" + "obsolete_Charcot-Marie-Tooth disease type 4B1" "mitochondrial complex II deficiency, nuclear type" "cDNA library construction" "assay by Fluidigm C1 microfluidics platform" @@ -36901,9 +36901,9 @@ "chordate pharyngeal muscle" "cathepsin B measurement" "obsolete_autosomal recessive degenerative and progressive cerebellar ataxia" + "obsolete_Classic Bartter syndrome" "triacylglycerol 56:4" "atrial septal defect, sinus venosus type" - "obsolete_Classic Bartter syndrome" "Polydipsia" "level of copine-7 in blood serum" "obsolete_genetic dementia" @@ -36920,8 +36920,8 @@ "peptidyl-tRNA hydrolase 2, mitochondrial" "genotyping by high throughput sequencing" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2K" - "ML-DmBG3-c2" "exfoliation syndrome, susceptibility to" + "ML-DmBG3-c2" "methyl jasmonate measurement" "obsolete_liver" "filariasis" @@ -36962,8 +36962,8 @@ "Abnormal sputum" "geminin" "level of meiosis 1 arrest protein in blood serum" - "major prion protein measurement" "obsolete_lethal chondrodysplasia, Seller type" + "major prion protein measurement" "beta-glucuronidase activity" "eCLIP" "valproic acid" @@ -36996,8 +36996,8 @@ "level of baculoviral IAP repeat-containing protein 7 in blood serum" "ubiquitin-conjugating enzyme E2 D3" "tuberculous oophoritis" - "O-palmitoylcarnitine" "propionylglycine" + "O-palmitoylcarnitine" "microvascular complications of diabetes, susceptibility" "N-acetyl-L-alanine" "malignant giant cell tumor" @@ -37036,13 +37036,13 @@ "abdominal aortic artery calcification" "porphyria" "beta-defensin 107 measurement" - "obsolete_laminopathy type Decaudain-Vigouroux" "pediatric osteosarcoma" + "obsolete_laminopathy type Decaudain-Vigouroux" "methylmercuric dicyanamide measurement" "anti-Kaposi's sarcoma-associated herpesvirus antibody measurement"@en - "eyelid disease" "obsolete_pelvic fin" "neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities" + "eyelid disease" "Chlamydiaceae Infections" "level of hemoglobin subunit epsilon in blood serum" "indeterminate colitis" @@ -37130,9 +37130,9 @@ "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" @@ -37183,9 +37183,9 @@ "level of pterin-4-alpha-carbinolamine dehydratase 2 in blood serum" "phosphatidylcholine O-34:0" "heparan-sulfate 6-O-sulfotransferase 2" + "AtT-20" "liver iron measurement" "semaphorin-3C" - "AtT-20" "examination for neoplasm"@en "autosomal semi-dominant severe lipodystrophic laminopathy" "succinate measurement" @@ -37205,13 +37205,13 @@ "establishment of protein localization" "BC-5" "DDRGK domain-containing protein 1" + "Autosomal dominant optic atrophy, classic type" "level of 5-formyltetrahydrofolate cyclo-ligase MTHFS in blood serum" "E3 SUMO-protein ligase NSE2" "suicidal ideation" - "Autosomal dominant optic atrophy, classic type" "obsolete_Dravet syndrome" - "obsolete_vomeronasal organ" "obsolete Roberts syndrome" + "obsolete_vomeronasal organ" "anti-citrullinated protein antibody seropositivity" "cutaneous leiomyosarcoma" "phosphatidylcholine O-42:0" @@ -37312,8 +37312,8 @@ "Leukoplakia, Hairy" "MQ887" "Miyoshi muscular dystrophy 3" - "poly(U)-binding-splicing factor PUF60" "Colorectal Diffuse Large B-Cell Lymphoma" + "poly(U)-binding-splicing factor PUF60" "UACC-62" "vulvar squamous neoplasm" "teratogenicity" @@ -37418,8 +37418,8 @@ "lysosomal storage disease" "obsolete_sialuria" "obsolete_aggrecan-related bone disorder" - "obsolete_somite 12" "ribosomal oxygenase 2" + "obsolete_somite 12" "obstructive sleep apnea" "obsolete_oromandibular-limb hypogenesis syndrome" "obsolete_familial adrenal hypoplasia with absent pituitary luteinizing hormone" @@ -37597,8 +37597,8 @@ "level of Rho guanine nucleotide exchange factor 2 in blood serum" "Broad forehead" "eye hemorrhage" - "ATC Code D Dermatologicals" "acyl-coenzyme A thioesterase MBLAC2" + "ATC Code D Dermatologicals" "central nervous system primitive neuroectodermal neoplasm" "nephron tubule" "LIPE-related familial partial lipodystrophy" @@ -37665,13 +37665,13 @@ "Spinal muscular atrophy with respiratory distress type 1" "cefalotin" "pyloric stenosis, infantile hypertrophic, 1" - "stomach diverticulum" "autosomal recessive spastic paraplegia type 68" - "1-(1-enyl-stearoyl)-2-docosahexaenoyl-GPC (P-18:0/22:6) measurement" - "congenital myasthenic syndromes with glycosylation defect" + "stomach diverticulum" "MDAMB436" + "1-(1-enyl-stearoyl)-2-docosahexaenoyl-GPC (P-18:0/22:6) measurement" "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" @@ -37708,10 +37708,10 @@ "level of E3 ubiquitin-protein ligase pellino homolog 1 in blood serum" "obsolete_Genetic dermis disorder" "X-21736 measurement" + "seasonal gut microbiome measurement" "large ribosomal subunit protein bL34m" "Coffin-Siris syndrome 12" "negative regulation of renal sodium excretion" - "seasonal gut microbiome measurement" "intellectual developmental disorder, autosomal recessive 74" "obsolete_Diamond-Blackfan anemia" "BolA-like protein 1" @@ -37785,8 +37785,8 @@ "bone leiomyosarcoma" "male reproductive system measurement"@en "obsolete_cranial neural crest" - "fallopian tube disease" "Congenital alveolar capillary dysplasia" + "fallopian tube disease" "neuron-specific protein family member 2 measurement" "benign ovarian sex cord-stromal tumor" "level of macrophage receptor MARCO in blood serum" @@ -37871,11 +37871,11 @@ "phospholipid measurement" "cyclin-dependent kinase 20" "obsolete_oculocerebral hypopigmentation syndrome, Cross type" - "synovium cancer" "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" @@ -37887,8 +37887,8 @@ "disease related to hematopoietic stem cell transplant" "25-hydroxycholesterol" "Proximal muscle weakness in lower limbs" - "prevotella seropositivity" "X-12830 measurement" + "prevotella seropositivity" "level of translation initiation factor IF-3, mitochondrial in blood serum" "sarcomatoid squamous cell carcinoma" "thymoma type B" @@ -38066,9 +38066,9 @@ "Combined Lung Carcinoma" "apoptosis-inducing factor 1, mitochondrial" "autosomal recessive limb-girdle muscular dystrophy type 2G" - "neurexin-3-alpha" "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2" "Anteverted nares" + "neurexin-3-alpha" "familial idiopathic inflammatory myopathy" "malignant dermis tumor" "nephrotic syndrome, type 22" @@ -38084,11 +38084,11 @@ "JRT3T35" "EGF-like module-containing mucin-like hormone receptor-like 2 measurement" "lysine-to-glutaroyl carnitine ratio" - "Metabolic disease with corneal opacity" "CD4-positive, alpha-beta thymocyte" - "obsolete_genetic parenchymatous liver disease" "spondyloepimetaphyseal dysplasia, Bieganski type" + "obsolete_genetic parenchymatous liver disease" "schizophrenia 15" + "Metabolic disease with corneal opacity" "cystic fibrosis" "primary hyperoxaluria type 3" "Hermansky-Pudlak syndrome 10" @@ -38195,9 +38195,9 @@ "Lessel-Kreienkamp syndrome" "CD34-positive, CD38-positive common myeloid progenitor" "DEGCAGS syndrome" - "HG02852" "velopharyngeal dysfunction" "retinal ciliopathy" + "HG02852" "aldo-keto reductase family 1 member C1 measurement" "Y79" "T-lymphocyte surface antigen Ly-9 measurement" @@ -38227,8 +38227,8 @@ "isolated brachycephaly" "level of sepiapterin reductase in blood serum" "postlingual non-syndromic genetic hearing loss" - "obsolete_combined immunodeficiency due to ORAI1 deficiency" "ascaridiasis" + "obsolete_combined immunodeficiency due to ORAI1 deficiency" "BTB/POZ domain-containing protein KCTD4" "obsolete_primitive mesencephalic artery" "inherited isolated nail anomaly" @@ -38237,11 +38237,11 @@ "level of perilipin-3 in blood serum" "postaxial polydactyly type B" "blood vanadium measurement"@en - "obsolete_9p13 microdeletion syndrome" "pancreatic adenocarcinoma" + "obsolete_9p13 microdeletion syndrome" "level of 39S ribosomal protein L52, mitochondrial in blood serum" - "level of calcium-activated chloride channel regulator 2 in blood serum" "cerebellar pilocytic astrocytoma" + "level of calcium-activated chloride channel regulator 2 in blood serum" "level of dipeptidyl peptidase 4 in blood serum" "X-linked retinal dysplasia" "DNA shearing" @@ -38254,8 +38254,8 @@ "Microlissencephaly type B" "protein disulfide-isomerase A5" "obsolete_Siegler-Brewer-Carey syndrome" - "tag protein fusion library" "CD81 molecule" + "tag protein fusion library" "pressure unit" "CS57598" "ubiquitin-conjugating enzyme E2 B" @@ -38290,8 +38290,8 @@ "alive with progressive disease" "Manduca sexta" "Lennox-Gastaut syndrome" - "MAD2L1-binding protein" "delta-CEHC measurement" + "MAD2L1-binding protein" "obsolete excretory apparatus of the lacrimal system anomaly" "obsolete_Alzheimer's disease" "level of Rho guanine nucleotide exchange factor 7 in blood serum" @@ -38366,10 +38366,10 @@ "articular cartilage disorder" "positive regulation of renal sodium excretion" "Jervell and Lange-Nielsen syndrome 2" - "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B" "stomach rupture" "autosomal recessive spastic paraplegia type 69" "cycloheximide" + "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B" "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome" "arteriovenous hemangioma/malformation" "cystatin-S measurement" @@ -38489,9 +38489,9 @@ "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" @@ -38512,8 +38512,8 @@ "methylcobalamin deficiency type cblDv1" "neutrophil-activating peptide 2 measurement" "atactic disorder" - "morphologic finding" "congenital generalized lipodystrophy type 2" + "morphologic finding" "insular cortex volume measurement"@en "dual specificity protein phosphatase 19" "3-methylxanthine" @@ -38601,8 +38601,8 @@ "herbicide" "beta-defensin 1 measurement" "proteobacteria seropositivity" - "level of myotubularin-related protein 1 in blood serum" "phosducin-like protein" + "level of myotubularin-related protein 1 in blood serum" "obsolete_autosomal recessive optic atrophy" "obsolete_syndromic optic nerve hypoplasia" "autosomal recessive Robinow syndrome" @@ -38687,11 +38687,11 @@ "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" @@ -38879,8 +38879,8 @@ "level of tyrosyl-DNA phosphodiesterase 1 in blood serum" "dual specificity mitogen-activated protein kinase kinase 6" "obsolete_familial scaphocephaly syndrome, McGillivray type" - "ampulla of vater adenosquamous carcinoma" "NCI-H322T" + "ampulla of vater adenosquamous carcinoma" "prolow-density lipoprotein receptor-related protein 1 measurement" "protein MTSS 2" "obsolete_dorsal fin musculature" @@ -38896,25 +38896,25 @@ "protein-glutamine gamma-glutamyltransferase 4" "dissociative amnesia" "platelet glycoprotein V" - "obsolete_hypomandibular faciocranial dysostosis" "thiopurine" "bleomycin hydrolase" + "obsolete_hypomandibular faciocranial dysostosis" "Cafe-au-lait spot" "obsolete_intellectual disability-hyperkinetic movement-truncal ataxia syndrome" - "level of late cornified envelope protein 3C in blood serum" "obsolete syndromic nail anomaly" + "level of late cornified envelope protein 3C in blood serum" "benign neoplasm of anus" "bladder benign neoplasm" "Anemia" "level of mitotic spindle assembly checkpoint protein MAD1 in blood serum" - "level of 39S ribosomal protein L55, mitochondrial in blood serum" "beta-1,4-galactosyltransferase 1" + "level of 39S ribosomal protein L55, mitochondrial in blood serum" "gap junction alpha-8 protein measurement" "cornea transplantation" "glycogen storage disease I" "immunodeficiency 76" - "CD7-negative lymphoid progenitor cell" "eicosenoate 20:1n9 or 11 measurement" + "CD7-negative lymphoid progenitor cell" "cell size selection" "HG02870" "Sandhoff disease, juvenile form" @@ -38931,8 +38931,8 @@ "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" @@ -38967,8 +38967,8 @@ "immunodeficiency 66" "level of transmembrane and ubiquitin-like domain-containing protein 1 in blood serum" "3-methylglutaconic aciduria type 8" - "Fagus sylvatica" "otospondylomegaepiphyseal dysplasia" + "Fagus sylvatica" "Abnormal adipose tissue morphology" "Oenococcus oeni" "fluoxetine" @@ -38979,8 +38979,8 @@ "CARASIL syndrome" "obsolete_familial omphalocele syndrome with facial dysmorphism" "persistent oligoarticular juvenile idiopathic arthritis" - "obsolete_hypoalphalipoproteinemia" "level of OTU domain-containing protein 3 in blood serum" + "obsolete_hypoalphalipoproteinemia" "obsolete_syndactyly type 5" "obsolete_Pyle disease" "obsolete_Asian/Pacific Islander" @@ -39088,8 +39088,8 @@ "triacylglycerol 54:5" "obsolete_classic organic aciduria" "polydactyly of an index finger, unilateral" - "osteoclast" "YCC11" + "osteoclast" "Ito hypomelanosis" "clear cell sarcoma of the kidney" "thyroxine" @@ -39127,10 +39127,10 @@ "encounter with health service for breast reconstruction following mastectomy" "hemojuvelin measurement" "lacrimal gland neoplasm" - "quinolinate measurement" "CD59 glycoprotein measurement" - "rapid kidney function decline" + "quinolinate measurement" "YTH domain-containing protein 1" + "rapid kidney function decline" "intellectual disability, autosomal dominant 57" "ATC Code H Systemic hormonal preparations, excluding sex hormones and insulins" "myeloid hemopathy" @@ -39223,9 +39223,9 @@ "alpha-N-acetylgalactosaminidase deficiency type 1" "regenerating islet-derived protein 3-alpha measurement" "sumo-conjugating enzyme UBC9 measurement" - "TTC549" - "insulin-resistance syndrome type B" "Proximal tibial hypoplasia" + "insulin-resistance syndrome type B" + "TTC549" "Primrose syndrome" "3-Indolepropionic acid to Trimethylamine N-oxide ratio" "autoinflammatory disease, multisystem, with immune dysregulation, X-linked" @@ -39365,8 +39365,8 @@ "Blackmount ecotype" "adult embryonal tumor with multilayered rosettes, c19mc-altered" "level of collagen alpha-1(I) chain in blood serum" - "1,2,3-benzenetriol sulfate (2) measurement" "stenosing tenosynovitis"@en + "1,2,3-benzenetriol sulfate (2) measurement" "biotin" "T-complex protein 1 subunit alpha" "level of centromere protein V in blood serum" @@ -39571,8 +39571,8 @@ "RING finger protein 141" "urocortin-3" "triacylglycerol 56:6" - "Peritoneal Multicystic Mesothelioma" "Rare genetic thyroid disease" + "Peritoneal Multicystic Mesothelioma" "obsolete_atypical pantothenate kinase-associated neurodegeneration" "C3H"@en "L-Threonine to 3-Indolepropionic acid ratio" @@ -39612,22 +39612,22 @@ "lagophthalmos" "ethylene treatment" "Netherton syndrome" - "Unclassified genetic skin disorder" "DDB1- and CUL4-associated factor 5 measurement" "level of netrin-G1 in blood serum" "ferritin, mitochondrial" "OV-2008" "brachydactyly-elbow wrist dysplasia syndrome" "periodontal disorder" - "nerve plexus disease" + "Unclassified genetic skin disorder" "transmembrane protein 25" "melanoma, cutaneous malignant, susceptibility to, 3" + "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" - "obsolete_open iniencephaly" "proteasome activator complex subunit 3 measurement" + "obsolete_open iniencephaly" "immunoglobulin J chain measurement" "obsolete_multiple acyl-CoA dehydrogenase deficiency" "Plasmodium falciparum 3D7" @@ -39640,8 +39640,8 @@ "obsolete_lethal polymalformative syndrome, Boissel type" "fasting blood glucose change measurement" "trabecular adenocarcinoma" - "obsolete_hypobetalipoproteinemia" "level of ankyrin repeat domain-containing protein 46 in blood serum" + "obsolete_hypobetalipoproteinemia" "regulation of defecation" "obsolete_British" "limited nitrate regimen" @@ -39751,11 +39751,11 @@ "homeobox protein MOX-2" "mitochondrial ubiquitin ligase activator of NFKB 1 measurement" "obsolete_Arbisopsis thaliana" - "splenocyte" "response to Par-4 dependent chemotherapy"@en + "splenocyte" + "digestive system surgery"@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" @@ -39877,9 +39877,9 @@ "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" @@ -39924,8 +39924,8 @@ "gastric leiomyoma" "obsolete_familial congenital mirror movements" "Intervertebral disk degeneration" - "Mast Cell Neoplasm" "sodium atom" + "Mast Cell Neoplasm" "lymphoid hemopathy" "squamous cell skin papilloma" "level of ER degradation-enhancing alpha-mannosidase-like protein 2 in blood serum" @@ -40011,9 +40011,9 @@ "alpha-N-acetylgalactosaminidase deficiency type 2" "obsolete avascular necrosis of genetic origin" "sapropterin dihydrochloride" - "obsolete_combined oxidative phosphorylation defect type 13" "diastolic heart failure" "regulator of microtubule dynamics protein 3 measurement" + "obsolete_combined oxidative phosphorylation defect type 13" "malignant rhabdoid tumour" "taurodeoxycholic acid 3-sulfate measurement" "hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature" @@ -40131,11 +40131,11 @@ "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" @@ -40155,8 +40155,8 @@ "obsolete_X and Y chromosomal anomaly" "level of GMP reductase 2 in blood serum" "diencephalic cancer" - "embryonic central nervous system" "carotid plaque build" + "embryonic central nervous system" "eukaryotic tRNA pseudouridine synthase A" "GM12878" "diacylglycerol 33:1 measurement" @@ -40178,13 +40178,13 @@ "level of microfibril-associated glycoprotein 3 in blood serum" "level of interleukin-17 receptor D in blood serum" "level of S-arrestin in blood serum" - "obsolete_lipoid proteinosis" "obsolete_hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome" "transcription factor SOX-6" "Autosomal recessive spastic paraplegia type 11" "hip osteoarthritis symptom severity measurement" "level of Rab-like protein 6 in blood serum" "ILSXISS#/Tej" + "obsolete_lipoid proteinosis" "PTB-Seq" "insulin-like growth factor-binding protein 1 measurement" "migraine with or without aura, susceptibility to" @@ -40220,15 +40220,15 @@ "obsolete intercalary limb defects" "ether lipid biosynthetic process" "congenital disorder of deglycosylation 2" + "Gilbert syndrome" "trait in response to lamotrigine" "arginine-hydroxylase NDUFAF5, mitochondrial" "urinary bladder cancer" - "Gilbert syndrome" "body of pancreas" "level of polypeptide N-acetylgalactosaminyltransferase 13 in blood serum" "Eubalaena glacialis" - "progressive familial intrahepatic cholestasis type 1" "level of epididymal-specific lipocalin-10 in blood serum" + "progressive familial intrahepatic cholestasis type 1" "hemin" "level of carbonic anhydrase-related protein in blood serum" "Thomsen and Becker disease" @@ -40264,9 +40264,9 @@ "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" @@ -40310,13 +40310,13 @@ "eicosanedioate (C20-DC) measurement" "malignant pericardial mesothelioma" "Gastric Adenoma" - "tonsil cancer" "level of neurotensin/neuromedin N in blood serum" + "tonsil cancer" "HSC-3" "GM15227" "level of beta-defensin 1 in blood serum" - "chitosan" "tarsal-carpal coalition syndrome" + "chitosan" "Human immunodeficiency virus" "Pierson syndrome" "level of protein argonaute-1 in blood serum" @@ -40481,9 +40481,9 @@ "phenol sulfate measurement" "hyperargininemia" "HC toxin" + "obsolete_congenital fibrinogen deficiency" "Thromboembolism" "polycythemia vera" - "obsolete_congenital fibrinogen deficiency" "transmembrane protein 132B measurement" "Wilson disease" "von Willebrand factor measurement" @@ -40525,8 +40525,8 @@ "dyschromatosis symmetrica hereditaria" "subphrenic abscess" "Proximal spinal muscular atrophy type 2" - "H0287" "ragulator complex protein LAMTOR3 measurement" + "H0287" "level of ETS domain-containing protein Elk-3 in blood serum" "level of syntaphilin in blood serum" "toxicity" @@ -40628,8 +40628,8 @@ "epiblast cell" "fibroblast growth factor receptor 3 measurement" "increased heart weight" - "Char syndrome" "anaplastic ependymoma" + "Char syndrome" "EM464" "honey-droplet corneal dystrophy" "neuropilin-2 measurement" @@ -40814,8 +40814,8 @@ "clcn4-related disorder" "embryonic corpus allatum" "obsolete osteochondrosis of genetic origin" - "1-stearoyl-2-oleoyl-GPC (18:0/18:1) measurement" "GM12891" + "1-stearoyl-2-oleoyl-GPC (18:0/18:1) measurement" "CIP-TAP" "level of voltage-gated potassium channel KCNF1 in blood serum" "leiomyoma" @@ -40840,8 +40840,8 @@ "interleukin-12 subunit alpha" "obsolete_disorder of carbohydrate absorption and transport" "shoulder impingement syndrome" - "total RNA" "response to rhododendrol"@en + "total RNA" "cortolone glucuronide (1) measurement" "level of microfibrillar-associated protein 3-like in blood serum" "nodal marginal zone B-cell lymphoma" @@ -40857,13 +40857,13 @@ "obsolete_autosomal dominant vitreoretinochoroidopathy" "multiple congenital anomalies-hypotonia-seizures syndrome" "Partial deletion of the short arm of chromosome 4" - "obsolete_Mowat-Wilson syndrome due to monosomy 2q22" "social anxiety disorder" + "obsolete_Mowat-Wilson syndrome due to monosomy 2q22" "46,XX disorder of sex development - anorectal anomalies" "myoclonic epilepsy, juvenile, susceptibility to, 1" "non-lobar intracerebral hemorrhage"@en - "obsolete_hypokalemic periodic paralysis" "salmonella seropositivity" + "obsolete_hypokalemic periodic paralysis" "angiokeratoma of Fordyce" "Jaberi-Elahi syndrome" "sex design" @@ -40875,8 +40875,8 @@ "data file" "CS57884" "scapula" - "redox-regulatory protein FAM213A measurement" "adipocyte plasma membrane-associated protein" + "redox-regulatory protein FAM213A measurement" "Cryptococcus gattii" "obsolete_QC type flag" "obsolete_primary glomerular disease" @@ -40930,8 +40930,8 @@ "phenol" "Dyspnea" "striatonigral degeneration, childhood-onset" - "C34:2 phosphatidylethanolamine measurement" "Angiokeratoma corporis diffusum" + "C34:2 phosphatidylethanolamine measurement" "meningoencephalocele" "NEDD4-like E3 ubiquitin-protein ligase WWP2" "autosomal dominant medullary cystic kidney disease with or without hyperuricemia" @@ -41027,9 +41027,9 @@ "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" - "Umbilical cord ulceration - intestinal atresia" "obsolete_large intestine primordium" "response to serotonin-norephinephrine reuptake inhibitor" "Calyptogena magnifica symbiont" @@ -41053,8 +41053,8 @@ "kelch-like protein 2" "non-distal monosomy 10q" "fucosidosis" - "hemangioma" "sensory neuron" + "hemangioma" "level of epididymal-specific lipocalin-8 in blood serum" "sphingomyeline C20:2 measurement" "level of calcium-binding protein 39 in blood serum" @@ -41088,8 +41088,8 @@ "protein-lysine N-methyltransferase EEF2KMT" "epidermal growth factor receptor substrate 15-like 1 measurement" "pantothenic acid" - "oleoyl-linoleoyl-glycerol (18:1/18:2) [2] measurement" "physical activity" + "oleoyl-linoleoyl-glycerol (18:1/18:2) [2] measurement" "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 measurement" "respiratory toxicity" "Methanococcus" @@ -41209,8 +41209,8 @@ "urinary uric acid to creatinine ratio" "level of atlastin-3 in blood serum" "obsolete_hereditary leiomyomatosis and renal cell cancer" - "end bias" "Bowen disease of the skin" + "end bias" "level of 18S rRNA aminocarboxypropyltransferase in blood serum" "3',5'-cyclic-AMP phosphodiesterase 4C" "obsolete_ring chromosome Y" @@ -41286,11 +41286,11 @@ "Postpericardiotomy Syndrome" "level of Ras-related protein Rab-43 in blood serum" "undecanoate 11:0 measurement" - "N-acetylglutamine measurement" "Abnormal nasopharyngeal adenoid morphology" "fibroblast growth factor receptor 4 measurement" - "other organism part" + "N-acetylglutamine measurement" "AG14446" + "other organism part" "Ewing sarcoma/peripheral primitive neuroectodermal tumor" "obsolete oligoastrocytic tumor" "SB146" @@ -41309,10 +41309,10 @@ "oral motor function measurement"@en "level of DCN1-like protein 2 in blood serum" "polyp of vulva" - "obsolete_10q22.3q23.3 microdeletion syndrome" "chronic tympanitis" - "46,XY disorder of sex development of gynecological interest" + "obsolete_10q22.3q23.3 microdeletion syndrome" "uvea neoplasm" + "46,XY disorder of sex development of gynecological interest" "Hemoglobin Tetramer Measurement" "urinary arsenic measurement" "Diets-Jongmans syndrome" @@ -41572,8 +41572,8 @@ "obsolete_familial cutaneous collagenoma" "M059J" "level of urotensin-2 receptor in blood serum" - "juvenile nephropathic cystinosis" "Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation" + "juvenile nephropathic cystinosis" "desmocollin-2 measurement" "triacylglycerol 58:9" "gonococcal urethritis" @@ -41639,9 +41639,9 @@ "array data file" "regulator of G-protein signaling 19 measurement" "adult central nervous system immature teratoma" + "Circle-Seq" "GM12892" "mesophyll cell" - "Circle-Seq" "phenylalanine measurement" "mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" "respiratory bronchiole" @@ -41669,15 +41669,15 @@ "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" "immature NK T cell stage II" "carbon atom" - "HCC1007" "Testicular torsion" + "HCC1007" "RNA-binding protein Nova-1" "mitochondrial disease" "obsolete_ring chromosome 9" @@ -41749,11 +41749,11 @@ "anauxetic dysplasia 3" "stromal cell of lamina propria of large intestine" "survival of motor neuron-related-splicing factor 30" - "bombesin receptor-activated protein C6orf89 measurement" "KG1" - "paraplegia" + "bombesin receptor-activated protein C6orf89 measurement" "body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency" "coronary artery bypass" + "paraplegia" "qualitative or quantitative defects of perlecan" "level of homeodomain-only protein in blood serum" "obsolete_autosomal recessive spastic ataxia" @@ -41786,9 +41786,9 @@ "[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial" "proteasome subunit alpha type-6 measurement" "gonococcal synovitis" + "obsolete_mucinuos carcinoma" "short tarsus-absence of lower eyelashes syndrome" "multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome" - "obsolete_mucinuos carcinoma" "CH7C17"@en "magnesium deficiency" "level of ski-like protein in blood serum" @@ -41862,8 +41862,8 @@ "level of piwi-like protein 1 in blood serum" "vaccenate (18:1) measurement" "social environment measurement"@en - "ileus" "obsolete_hereditary inclusion body myopathy type 4" + "ileus" "level of RNA polymerase II elongation factor ELL in blood serum" "Zostera marina" "androstenediol (3beta,17beta) disulfate (2) measurement" @@ -41897,9 +41897,9 @@ "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" @@ -41911,20 +41911,20 @@ "BV-2" "ILSXISS94/TejJ" "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" - "Eyebrow/eyelashes hypertrichosis" - "Multiple non-ossifying fibromatosis" "Genetic skin vascular disorder" - "obsolete_alopecia antibody deficiency" "insect dorsal epidermis primordium" + "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" "tricuspid valve prolapse" "methylmalonyl-CoA epimerase, mitochondrial measurement" - "heat shock protein HSP 90-beta measurement" "acrodysostosis 2 with or without hormone resistance" "neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade" "nucleoside biosynthetic process" + "heat shock protein HSP 90-beta measurement" "neuronal ceroid lipofuscinosis 9" "median fin skeleton" "sex hormone-binding globulin" @@ -42000,10 +42000,10 @@ "lesion of sciatic nerve" "peptide methionine sulfoxide reductase" "heart malignant hemangiopericytoma" - "2-palmitoleoylglycerol (16:1) measurement" "Plasmodium falciparum malaria" "fetal derived definitive erythrocyte" "level of ALK and LTK ligand 2 in blood serum" + "2-palmitoleoylglycerol (16:1) measurement" "obsolete_distal renal tubular acidosis" "Chiari malformation type II" "ONS-76"@en @@ -42199,11 +42199,11 @@ "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" "Spinal cord injury" @@ -42299,8 +42299,8 @@ "xeroderma pigmentosum group C" "obsolete_congenital patella dislocation, bilateral" "bulk immune repertoire sequencing" - "intermediate DEND syndrome" "esterified cholesterol change measurement" + "intermediate DEND syndrome" "heterogeneous nuclear ribonucleoprotein A1" "level of homer protein homolog 3 in blood serum" "8505C" @@ -42337,9 +42337,9 @@ "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" @@ -42353,8 +42353,8 @@ "target of Myb1 membrane trafficking protein" "Increased circulating ACTH level" "obsolete_angioosteohypotrophic syndrome" - "serine/threonine-protein kinase BRSK2 measurement" "ES-I3" + "serine/threonine-protein kinase BRSK2 measurement" "Generalized epilepsy - paroxysmal dyskinesia" "interleukin-2 measurement" "response to sertraline" @@ -42410,8 +42410,8 @@ "GM08930" "transcriptional enhancer factor TEF-5 measurement" "obsolete_Alagille syndrome due to 20p12 microdeletion" - "smMIP" "lymphatic malformation 8" + "smMIP" "level of protein FAM118B in blood serum" "obsolete_renal clear cell carcinoma" "echinoderm microtubule-associated protein-like 2" @@ -42446,8 +42446,8 @@ "East Texas bleeding disorder" "type 2 diabetes mellitus" "obsolete_vitamin B12- and folate-independent constitutional megaloblastic anemia" - "obsolete_partial deletion of chromosome 2" "checkup" + "obsolete_partial deletion of chromosome 2" "Livedo reticularis" "obsolete hypertelorism, Teebi type" "obsolete infantile neuroaxonal dystrophy" @@ -42458,10 +42458,10 @@ "U3082MG" "obsolete female infertility due to an anomaly of ovarian function of genetic origin" "obsolete_Premature aging" + "1-(1-enyl-palmitoyl)-2-arachidonoyl-GPE (P-16:0/20:4) measurement" "obsolete_MDAMB-157" "GDNF family receptor alpha-like" "Fanconi anemia complementation group J" - "1-(1-enyl-palmitoyl)-2-arachidonoyl-GPE (P-16:0/20:4) measurement" "cytokinin" "polydactyly-macrocephaly syndrome" "cell activation" @@ -42625,10 +42625,10 @@ "DnaJ homolog subfamily C member 18 measurement" "vulvar eccrine adenocarcinoma" "bone morphogenetic protein 10 measurement" - "protein binding measurement"@en "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 @@ -42697,8 +42697,8 @@ "ureteritis" "Syndromic X-linked intellectual disability due to JARID1C mutation" "pregnenetriol disulfate measurement" - "obsolete_congenital shoulder dislocation" "obsolete_Meacham syndrome" + "obsolete_congenital shoulder dislocation" "dorsal anterior lateral line ganglion" "factor XI deficiency" "optic atrophy 2" @@ -42828,9 +42828,9 @@ "obsolete_generalized bulbospinal muscular atrophy" "childhood cerebellar neoplasm" "beta-defensin 125" - "obsolete_fibular hemimelia" "alpha-tocopherol transfer protein-like" "293TsiLL" + "obsolete_fibular hemimelia" "low-density lipoprotein receptor-related protein 11" "corneal epithelium" "obsolete_mesomelia-synostoses syndrome" @@ -42878,8 +42878,8 @@ "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" @@ -42907,9 +42907,9 @@ "balanitis" "obsolete_paramyotonia congenita of Von Eulenburg" "adult pineoblastoma" - "Primary ciliary dyskinesia - retinitis pigmentosa" "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" @@ -42961,8 +42961,8 @@ "600MPE" "obsolete_isolated focal cortical dysplasia type Ia" "1,2-dipalmitoyl-GPC (16:0/16:0) measurement" - "integumental system" "gamma-glutamylleucine measurement" + "integumental system" "red color blindness" "(S)-azetidine-2-carboxylic acid" "Syracuse Low Avoidance" @@ -42970,8 +42970,8 @@ "UV light regimen" "inhibitor of nuclear factor kappa-B kinase subunit beta" "ankylosing spondylitis disease activity score"@en - "sphingomyelin (d18:2/21:0, d16:2/23:0) measurement" "NCI-H1693" + "sphingomyelin (d18:2/21:0, d16:2/23:0) measurement" "polyamine-modulated factor 1" "complement C1r subcomponent-like protein" "inhalation anaesthetic" @@ -43065,8 +43065,8 @@ "Niemann-Pick disease type C" "X-24243 measurement" "level of polypeptide N-acetylgalactosaminyltransferase 4 in blood serum" - "tricho-oculo-dermo-vertebral syndrome" "distal portion of right coronary artery" + "tricho-oculo-dermo-vertebral syndrome" "SKNEP1" "vermiform appendix" "stereotypic movement disorder" @@ -43078,8 +43078,8 @@ "obsolete_autism spectrum disorder due to AUTS2 deficiency" "level of calcium-binding protein 2 in blood serum" "cotinine N-oxide measurement" - "replicate" "fructose-2,6-bisphosphatase TIGAR measurement" + "replicate" "clostridium difficile infection" "testis-specific basic protein Y 1 measurement" "IgD-negative CD38-positive IgG memory B cell" @@ -43200,8 +43200,8 @@ "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" - "Legg-Calve-Perthes disease" "benign insulitis" + "Legg-Calve-Perthes disease" "BE(2)-C" "obsolete_response to iloperidone" "bisphosphoglycerate mutase measurement" @@ -43212,8 +43212,8 @@ "Dandy-Walker malformation - postaxial polydactyly" "level of sodium/potassium-transporting ATPase subunit beta-2 in blood serum" "Sensory neuropathy" - "level of DnaJ homolog subfamily B member 8 in blood serum" "obsolete_corneal dystrophy" + "level of DnaJ homolog subfamily B member 8 in blood serum" "N6-Succinyl adenosine measurement" "adult-onset distal myopathy due to VCP mutation" "X-11442 measurement" @@ -43223,9 +43223,9 @@ "polyethylene oxidized measurement" "obsolete_periaqueductal gray" "microfibril-associated glycoprotein 4 measurement" + "prolactin measurement" "SNU-620" "CAMA1" - "prolactin measurement" "protein LRATD2" "nucleotide biosynthetic process" "humerus fracture" @@ -43247,8 +43247,8 @@ "osteosclerosis" "Drop-seq sequencing protocol" "Arthropathy" - "BEST1-related dominant retinopathy" "level of suppressor of fused homolog in blood serum" + "BEST1-related dominant retinopathy" "Microcephaly - intellectual disability - phalangeal and neurological anomalies" "Pseudomonas stutzeri A1501" "ES cell line" @@ -43309,8 +43309,8 @@ "childhood central nervous system germinoma" "Populus balsamifera" "ventral hyoid arch skeleton" - "spinocerebellar ataxia type 12" "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" @@ -43340,9 +43340,9 @@ "C-C motif chemokine 19 measurement" "Stuve-Wiedemann syndrome" "obsolete_hereditary benign intraepithelial dyskeratosis" + "metabolically healthy obesity" "thiopurine S-methyltransferase" "cervical basaloid carcinoma" - "metabolically healthy obesity" "syndromic X-linked intellectual disability Raymond type" "obsolete genetic infertility" "Neospora caninum" @@ -43440,9 +43440,9 @@ "histidine triad nucleotide-binding protein 2" "obsolete_presumptive diencephalon" "paraphimosis" - "allergic urticaria" "Iridocyclitis" "female accessory gland" + "allergic urticaria" "autosomal recessive osteopetrosis" "Periostitis" "gliadin seropositivity" @@ -43450,8 +43450,8 @@ "ring chromosome 18" "sexually transmitted disease" "obsolete peeling skin syndrome type B" - "obsolete_unilateral polymicrogyria" "Indigenous American"@en + "obsolete_unilateral polymicrogyria" "shoulder and girdle defects-familial intellectual disability syndrome" "pro-B cell" "obsolete rare familial disorder with hypertrophic cardiomyopathy" @@ -43504,8 +43504,8 @@ "sialate O-acetylesterase measurement" "prednisolone" "Abnormal gallbladder physiology" - "obsolete_glycogen storage disease due to muscle beta-enolase deficiency" "obsolete_hamel cerebro-palato-cardiac syndrome" + "obsolete_glycogen storage disease due to muscle beta-enolase deficiency" "psoriasis vulgaris" "gelsolin measurement" "lutein measurement" @@ -43520,12 +43520,12 @@ "Pear-shaped vertebrae" "Mucocutaneous venous malformations" "GM14569" - "Neisseriaceae Infections" "Escherichia coli B str. REL606" + "Neisseriaceae Infections" "DNA methylation"@en - "level of xylosyltransferase 2 in blood serum" "17q11.2 microduplication syndrome" "sclera" + "level of xylosyltransferase 2 in blood serum" "Wolf-Hirschhorn syndrome" "vitronectin measurement" "tail" @@ -43588,8 +43588,8 @@ "partial monosomy of the long arm of chromosome 10" "purine ribonucleoside triphosphate biosynthetic process" "level of chondroitin sulfate proteoglycan 4 in blood serum" - "basophil adenoma" "broad ligament of uterus" + "basophil adenoma" "MLO-Y4" "Solitary median maxillary central incisor" "1-adrenoyl-GPC (22:4) measurement" @@ -43710,8 +43710,8 @@ "interleukin-23 receptor measurement" "microcephaly, growth restriction and increased sister chromatid exchange" "Viridiplantae" - "testicular spindle-associated protein SHCBP1L" "heat shock 70 kda protein 1a/1b measurement" + "testicular spindle-associated protein SHCBP1L" "sarcoglycanopathy" "furosemide" "vaginal squamous papilloma" @@ -43753,8 +43753,8 @@ "Absent vertebral body mineralization" "rickets" "obsolete_Keutel syndrome" - "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome" "obsolete_pseudohypoaldosteronism type 1" + "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome" "nitrate" "papillary epithelial neoplasm" "CHILD syndrome" @@ -43833,16 +43833,16 @@ "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" "sample splitting" "immunodeficiency 91 and hyperinflammation" "obsolete_sulfation-related bone disorder" - "obsolete_hypopigmentation-punctate palmoplantar keratoderma syndrome" "autoinflammatory syndrome" + "obsolete_hypopigmentation-punctate palmoplantar keratoderma syndrome" "tridihexethyl bromide measurement" "obsolete_Classic Mayer-Rokitansky-Küster-Hauser syndrome" "GH3 domain-containing protein" @@ -43888,8 +43888,8 @@ "level of aldehyde dehydrogenase, mitochondrial in blood serum" "autosomal dominant compelling helio-ophthalmic outburst syndrome" "central nervous system cancer" - "kynurenine measurement" "obsolete_Hereditary thrombophilia due to congenital antithrombin deficiency" + "kynurenine measurement" "warm/hot air temperature regimen" "nevus count" "cAMP-responsive element modulator" @@ -44045,8 +44045,8 @@ "level of thrombospondin type-1 domain-containing protein 1 in blood serum" "GM13883" "trabecular meshwork" - "Appendix Hyperplastic Polyp" "dye swap design" + "Appendix Hyperplastic Polyp" "sulfotransferase 2A1" "F13" "X-11444 measurement" @@ -44063,8 +44063,8 @@ "obsolete_familial juvenile hyperuricemic nephropathy type 1" "obsolete_autosomal recessive progressive external ophthalmoplegia" "phimosis" - "Lung Lymphangioleiomyomatosis" "ulnar-mammary syndrome" + "Lung Lymphangioleiomyomatosis" "mandibuloacral dysplasia with type B lipodystrophy" "level of protein naked cuticle homolog 2 in blood serum" "level of DnaJ homolog subfamily C member 10 in blood serum" @@ -44085,12 +44085,12 @@ "intracellular cysteine homeostasis" "level of disks large homolog 2 in blood serum" "pirin measurement" - "level of ankyrin repeat domain-containing protein 27 in blood serum" "Mendelian susceptibility to mycobacterial diseases" + "level of ankyrin repeat domain-containing protein 27 in blood serum" "obsolete_cochlea structure" "inflammatory bowel disease 25" - "obsolete_congenital vitreoretinal dysplasia" "scrotum basal cell carcinoma" + "obsolete_congenital vitreoretinal dysplasia" "guanine nucleotide-binding protein G(k) subunit alpha measurement" "Be2 cell" "BEST1-related recessive retinopathy" @@ -44155,8 +44155,8 @@ "Hypocalcemic vitamin D-resistant rickets" "remnant cholesterol measurement" "guanine nucleotide exchange factor VAV3 measurement" - "charcot-marie-tooth disease, axonal, type 2t" "Chara corallina" + "charcot-marie-tooth disease, axonal, type 2t" "ring chromosome 19" "saliva" "uterine hyperstimulation"@en @@ -44170,9 +44170,9 @@ "glia-derived nexin measurement" "obsolete_partial deletion of chromosome 18" "DnaJ homolog subfamily C member 4 measurement" + "testis size"@en "level of interleukin enhancer-binding factor 2 in blood serum" "breast size" - "testis size"@en "Testicular atrophy" "level of DNA-binding protein SATB2 in blood serum" "obsolete_autosomal dominant prognathism" @@ -44187,11 +44187,11 @@ "partial deletion of chromosome 11" "Cold-induced sweating syndrome-hyperthermia spectrum" "Coarse hair" + "Appendix Villous Adenoma" "oligohydramnios" "uterine cancer" "FRAS1-related extracellular matrix protein 2" "beta-defensin 127" - "Appendix Villous Adenoma" "microgram per milliliter" "neuropathy with hearing impairment" "streptozocin" @@ -44239,8 +44239,8 @@ "procollagen C-endopeptidase enhancer 2 measurement" "Genetic chronic primary adrenal insufficiency" "osteoarthritis susceptibility 2" - "obsolete_mandibuloacral dysplasia with type B lipodystrophy" "NCI-H2081" + "obsolete_mandibuloacral dysplasia with type B lipodystrophy" "nucleated reticulocyte" "familial amyloid neuropathy" "N-acetylleucine measurement" @@ -44381,8 +44381,8 @@ "COLO320HSR" "3-hydroxyhippurate sulfate measurement" "Bartholin gland neoplasm" - "1-(1-enyl-oleoyl)-GPC (P-18:1) measurement" "hereditary gingival fibromatosis" + "1-(1-enyl-oleoyl)-GPC (P-18:1) measurement" "2-Hydroxybutanoic acid measurement" "OVTOKO" "autosomal dominant nonsyndromic hearing loss" @@ -44394,11 +44394,11 @@ "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" "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" @@ -44454,21 +44454,21 @@ "foregut anlage" "tooth agenesis" "Colon Sessile Serrated Adenoma/Polyp" - "canonical NF-kappaB signal transduction" "prokineticin-1 measurement" + "canonical NF-kappaB signal transduction" "level of uridine phosphorylase 1 in blood serum" "thyrotoxic periodic paralysis, susceptibility to, 1" "obsolete_Ramos-Arroyo syndrome" - "CLAPO syndrome" "obsolete_ulnar-mammary syndrome" + "CLAPO syndrome" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9" "Acro-pectoral syndrome" "obsolete_infantile hypertrophic cardiomyopathy due to MRPL44 deficiency" "obsolete_rapadilino syndrome" "level of versican core protein in blood serum" "amino acid" - "Thoracolumbar scoliosis" "Rhinitis, Allergic, Perennial" + "Thoracolumbar scoliosis" "protein FAM19A4 measurement" "Streptomyces tanashiensis" "3-hydroxybutyric acid measurement" @@ -44568,8 +44568,8 @@ "obsolete_ring chromosome 15" "level of thiosulfate:glutathione sulfurtransferase in blood serum" "tachykinin-4 measurement" - "LP.12 twelve leaves visible stage" "obsolete generalized pustular psoriasis" + "LP.12 twelve leaves visible stage" "insect clypeo-labral primordium" "corticotropin secretion" "ATP synthase subunit O, mitochondrial" @@ -44583,10 +44583,10 @@ "level of hepatoma-derived growth factor in blood serum" "level of thioredoxin reductase 1, cytoplasmic in blood serum" "autosomal dominant nonsyndromic hearing loss 28" - "X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures" "lumbosacral plexus lesion" - "cholesteryl ester 20:4 measurement"@en + "X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures" "pneumothorax" + "cholesteryl ester 20:4 measurement"@en "succinate dehydrogenase assembly factor 4, mitochondrial" "Cerebellar hypoplasia" "Abnormal thorax morphology" @@ -44722,16 +44722,16 @@ "level of protein LRATD2 in blood serum" "Helicobacter pylori infectious disease" "keratoacanthoma" - "nephritis" "tyrosine-protein kinase BLK" "pneumonia severity measurement" "focal epilepsy-intellectual disability-cerebro-cerebellar malformation" "Na(+)/H(+) exchange regulatory cofactor NHE-RF1" "Sphingomonas wittichii RW1" "erythrokeratoderma en cocardes" - "apolipoprotein A-I deficiency" + "nephritis" "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" @@ -44842,13 +44842,13 @@ "8p23.1 microduplication syndrome" "Limited shoulder movement" "Accommodative esotropia" - "obsolete_multiple congenital anomalies/dysmorphic syndrome-intellectual disability" "timepoint" "Postnatal growth retardation" + "obsolete_multiple congenital anomalies/dysmorphic syndrome-intellectual disability" "intellectual developmental disorder, autosomal dominant 70" "inositol-tetrakisphosphate 1-kinase" - "partial deletion of the long arm of chromosome 12" "indole-3-butyric acid" + "partial deletion of the long arm of chromosome 12" "otomycosis" "mucopolysaccharidosis" "level of importin subunit alpha-7 in blood serum" @@ -44949,8 +44949,8 @@ "Autosomal recessive spastic paraplegia type 39" "malignant syringoma" "Biliary tract obstruction" - "Distal 22q11.2 microdeletion syndrome" "aldo-keto reductase family 1 member C3" + "Distal 22q11.2 microdeletion syndrome" "interleukin-31 receptor A" "beta-alanine" "hereditary palmoplantar keratoderma, Gamborg-Nielsen type" @@ -45073,11 +45073,11 @@ "HCASMC-hTERT"@en "COLO668" "atypical juvenile parkinsonism" - "obsolete_citrullinemia type I" "luminal B breast carcinoma" - "1-(1-enyl-stearoyl)-GPC (P-18:0) measurement" + "obsolete_citrullinemia type I" "high content analysis of cells by molecular content" "vestibulocochlear ganglion" + "1-(1-enyl-stearoyl)-GPC (P-18:0) measurement" "2-Hydroxyisocaproic acid measurement" "PA-TU-8902" "acrorenal syndrome" @@ -45246,8 +45246,8 @@ "zinc transporter 5 measurement" "obsolete_postaxial polydactyly type A, bilateral" "pneumococcal meningitis" - "arabitol measurement" "alliin" + "arabitol measurement" "N-lysine methyltransferase SMYD2" "organization role" "meteorin-like protein" @@ -45280,8 +45280,8 @@ "metabolic acidosis" "level of mast cell-expressed membrane protein 1 in blood serum" "uterine ligament endometrioid adenocarcinoma" - "control" "obsolete_Disorder of mitochondrial fatty acid oxidation" + "control" "de Sanctis-Cacchione syndrome" "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3" "obsolete_oculoauriculovertebral spectrum with radial defects" @@ -45432,8 +45432,8 @@ "neutrophil-to-lymphocyte ratio" "hepatoma cell line" "seed coat" - "obsolete_Alagille syndrome" "obsolete_autosomal dominant progressive nephropathy with hypertension" + "obsolete_Alagille syndrome" "purine-containing compound metabolic process" "regulation of ovulation" "Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy" @@ -45490,8 +45490,8 @@ "OPA1-related optic atrophy with or without extraocular features" "trans fatty acid measurement" "obsolete_palmoplantar keratoderma, Nagashima type" - "obsolete_mild hyperphenylalaninemia" "obsolete_silver-Russell syndrome due to 7p11.2p13 microduplication" + "obsolete_mild hyperphenylalaninemia" "oculomucocutaneous syndrome"@en "ring chromosome 21" "glycoprotein metabolism disease" @@ -45510,8 +45510,8 @@ "level of integrin-linked kinase-associated serine/threonine phosphatase 2C in blood serum" "intracranial volume measurement" "X-linked intellectual disability, Schutz type" - "small integral membrane protein 3" "ECV304 cell" + "small integral membrane protein 3" "early-onset cerebellar ataxia with retained tendon reflexes" "obsolete_mosaic trisomy 3" "acute inflammatory response" @@ -45534,8 +45534,8 @@ "acute myeloid leukemia, t(1;11)(q21;q23)" "obsolete microspore" "Heliconius erato petiverana" - "5alpha-pregnan-3beta,20alpha-diol monosulfate (2) measurement" "level of serine hydrolase RBBP9 in blood serum" + "5alpha-pregnan-3beta,20alpha-diol monosulfate (2) measurement" "obsolete_erythropoietic protoporphyria" "obsolete_gangliosidosis" "obsolete_Cowden syndrome" @@ -45579,8 +45579,8 @@ "14-3-3 protein zeta/delta measurement" "anaphase-promoting complex subunit 10" "pigmented villonodular synovitis" - "Acidithiobacillus ferrooxidans" "level of Phosphatidylethanolamine (18:0_18:2) in blood serum" + "Acidithiobacillus ferrooxidans" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3" "thoracic outlet syndrome" "chondroadherin" @@ -45601,15 +45601,15 @@ "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" - "obsolete_sex" "BEN domain-containing protein 6" + "obsolete_sex" "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" @@ -45742,8 +45742,8 @@ "regulation of cellular process" "level of beta-1,4-galactosyltransferase 6 in blood serum" "5alpha-androstan-3beta,17alpha-diol disulfate measurement" - "DN2a thymocyte" "HEK-293FT cell" + "DN2a thymocyte" "N-acetylalanine measurement" "peroxisome biogenesis disorder due to PEX10 defect" "label" @@ -45760,12 +45760,12 @@ "Abnormality of the skin" "HSD10 disease, infantile type" "level of cleavage stimulation factor subunit 1 in blood serum" - "high content analysis of cells by morphological and physical properties" "level of lysophospholipase-like protein 1 in blood serum" + "high content analysis of cells by morphological and physical properties" "dexibuprofen" "Picea abies" - "carnosine N-methyltransferase" "Female infertility due to an implantation defect of genetic origin" + "carnosine N-methyltransferase" "viral myocarditis" "MRNA-capping enzyme measurement" "level of zinc finger SWIM domain-containing protein 7 in blood serum" @@ -45860,11 +45860,11 @@ "TCR-alpha-beta-positive T-cell deficiency" "xeroderma pigmentosum group G" "level of gamma-secretase subunit PEN-2 in blood serum" - "Ring chromosome" "eukaryotic translation initiation factor 4 gamma 3 measurement" "Hi-0" "syndromic lymphedema" "SAFB-like transcription modulator" + "Ring chromosome" "impaired psychomotor skills"@en "KOLF2-C1"@en "obsolete_dementia" @@ -45889,8 +45889,8 @@ "level of asparagine--tRNA ligase, mitochondrial in blood serum" "Subaortic stenosis - short stature" "obsolete_maternal uniparental disomy of chromosome 2" - "AP-1 complex subunit beta-1" "glycoursodeoxycholate measurement" + "AP-1 complex subunit beta-1" "level of LIM domain-containing protein 2 in blood serum" "2-Methylsuccinic acid measurement" "blood zinc measurement" @@ -45905,8 +45905,8 @@ "retinal capillary malformation" "sphingosine kinase 2 measurement" "Cenani-Lenz syndrome" - "POEMS syndrome" "carcinoembryonic antigen-related cell adhesion molecule 3" + "POEMS syndrome" "level of 39S ribosomal protein L33, mitochondrial in blood serum" "autosomal dominant sideroblastic anemia" "alanine--tRNA ligase, cytoplasmic" @@ -45942,8 +45942,8 @@ "trunk" "aconitate measurement"@en "obsolete_Phosphoenolpyruvate carboxykinase 2 deficiency" - "Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome" "trimethyllysine measurement" + "Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome" "retinal cell cancer" "hypothyroidism, congenital, nongoitrous, 5" "zinc/RING finger protein 4 measurement" @@ -45963,9 +45963,9 @@ "level of microtubule-associated proteins 1A/1B light chain 3A in blood serum" "glutathione reductase, mitochondrial" "Drosophila erecta" + "tyrosine-protein phosphatase non-receptor type substrate 1" "atypical chronic myeloid leukemia, BCR-ABL1 negative" "aspartylglucosaminuria" - "tyrosine-protein phosphatase non-receptor type substrate 1" "Schistosomiasis japonica" "eukaryotic translation initiation factor 4 gamma 2 measurement" "insect tracheal primordium" @@ -46129,11 +46129,11 @@ "hereditary spastic paraplegia 64" "calcific tendinitis" "C2C12" - "BC-1" "obsolete_functional neutrophil defect" + "BC-1" "DDB1- and CUL4-associated factor 11" - "tetanus" "obsolete_vitreoretinal degeneration" + "tetanus" "Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism" "LCLC-97TM1" "acute thyroiditis" @@ -46342,10 +46342,10 @@ "zinc finger CCHC domain-containing protein 17" "Pt45P1" "lipoid nephrosis" - "obsolete_karyomegalic interstitial nephritis" "OV56" "Uk-3" "Dickkopf-related protein 4 measurement" + "obsolete_karyomegalic interstitial nephritis" "lymphocyte:monocyte ratio" "BrdU-CLIP" "opisthorchiasis" @@ -46404,8 +46404,8 @@ "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome" "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability" "renal adenoma" - "cytochrome b5 reductase 4" "complement receptor type 2" + "cytochrome b5 reductase 4" "isolated trigonocephaly" "level of membrane primary amine oxidase in blood serum" "Ralstonia eutropha H16" @@ -46472,8 +46472,8 @@ "cauda equina neoplasm" "small intestine lymphoma" "hyperlipoproteinemia type 3" - "WM793" "iDES" + "WM793" "level of Fc receptor-like protein 2 in blood serum" "oleoylcholine measurement" "short transmembrane mitochondrial protein 1 (human)" @@ -46489,10 +46489,10 @@ "corneal endothelial cell measurement" "level of transmembrane protease serine 11A in blood serum" "obsolete_renal coloboma syndrome" + "10x 5' v1" "Cal-0" "protocadherin alpha-7" "apical" - "10x 5' v1" "GM17162" "palmitoyltransferase ZDHHC4" "tracheal dorsal trunk primordium" @@ -46510,8 +46510,8 @@ "congenital indifference to pain"@en "adrenoleukodystrophy" "Fanconi anemia complementation group Q" - "level of uncharacterized protein C12orf76 (human) in blood serum" "cyclooxygenase 2 inhibitor" + "level of uncharacterized protein C12orf76 (human) in blood serum" "Secundum atrial septal defect" "autosomal dominant nonsyndromic hearing loss 3B" "regulation of platelet aggregation" @@ -46545,8 +46545,8 @@ "acquired cold urticaria" "NCI-H1915" "benign neoplasm" - "sphingolipid measurement" "obsolete_conjunctival tumor" + "sphingolipid measurement" "[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial measurement" "isolated congenital digital clubbing" "obsolete short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" @@ -46557,8 +46557,8 @@ "non-functioning endocrine neoplasm" "granulins measurement" "narcolepsy without cataplexy" - "glucuronate" "viral labyrinthitis" + "glucuronate" "beta-defensin 110" "MAX gene-associated protein measurement" "dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome" @@ -46680,8 +46680,8 @@ "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 @@ -46907,8 +46907,8 @@ "level of cytokine receptor-like factor 3 in blood serum" "level of regucalcin in blood serum" "nasal cavity cancer" - "WSC domain-containing protein 2 measurement" "GM17286" + "WSC domain-containing protein 2 measurement" "Partial duplication of the long arm of chromosome 13" "anagen" "syndromic or isolated" @@ -46927,12 +46927,12 @@ "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" "retinal ischemia" "periostin measurement" + "pituitary apoplexy" "trophoblast" "proline measurement" - "pituitary apoplexy" + "hemorrhagic disease of newborn" "spinal muscular atrophy, type 1" "chordin-like protein 2 measurement" - "hemorrhagic disease of newborn" "(+)-catechin monohydrate" "level of neuroligin-3 in blood serum" "anti-Bcl11a" @@ -46959,8 +46959,8 @@ "protein ADM2" "tumor necrosis factor receptor superfamily member 6B measurement" "Fusarium subglutinans" - "60S ribosome subunit biogenesis protein NIP7" "10-nonadecenoate" + "60S ribosome subunit biogenesis protein NIP7" "combined oxidative phosphorylation deficiency 36" "DNase Hi-C" "brain stem astrocytic neoplasm" @@ -47050,8 +47050,8 @@ "autosomal recessive nonsyndromic hearing loss 9" "Proximal spinal muscular atrophy type 4" "obsolete_leukocyte adhesion deficiency" - "obsolete_hereditary chronic pancreatitis" "tumour of cranial and spinal nerves" + "obsolete_hereditary chronic pancreatitis" "TpTe measurement" "muscular dystrophy, congenital, with or without seizures" "nuclear RNA export factor 1 measurement" @@ -47093,10 +47093,10 @@ "histiocytic medullary reticulosis" "X-linked Charcot-Marie-Tooth disease" "Basaloid Carcinoma" + "free cholesterol in VLDL measurement " "PARE-Seq" - "inherited prekallikrein deficiency" "cysteine-rich secretory protein 2" - "free cholesterol in VLDL measurement " + "inherited prekallikrein deficiency" "Slide-seq" "calcaneus" "Sphingomyelin (d18:1/14:0, d16:1/16:0) measurement" @@ -47132,9 +47132,9 @@ "versican core protein" "obsolete_Buschke-Ollendorff syndrome" "level of protein ripply1 in blood serum" + "10-nonadecenoate 19:1n9 measurement" "Kit-positive, CD34-positive common myeloid progenitor" "level of ZW10 interactor in blood serum" - "10-nonadecenoate 19:1n9 measurement" "mating type" "benign neoplasm of cerebellum" "arachidonoylcholine measurement" @@ -47146,15 +47146,15 @@ "split hand-foot malformation 4" "oral rinse collection" "LETM1 domain-containing protein 1" - "HG03457" "J82" + "HG03457" "dual specificity mitogen-activated protein kinase kinase 4 measurement" "hypothalamic hamartomas with gelastic seizures" "Abnormal number of hair whorls" "primary segmental tracheal branch primordium" + "Congenital lethal myopathy, Compton-North type" "Epstein Barr viral capsid antigen seropositivity" "pancreatic duct" - "Congenital lethal myopathy, Compton-North type" "obsolete congenital disorder of glycosylation with epilepsy as a major feature" "obsolete_attenuated Chédiak-Higashi syndrome" "level of short/branched chain specific acyl-CoA dehydrogenase, mitochondrial in blood serum" @@ -47190,11 +47190,11 @@ "mullerian duct anomalies-limb anomalies syndrome" "level of gamma-soluble NSF attachment protein in blood serum" "obsolete_omphalocele syndrome, Shprintzen-Goldberg type" - "orbital myositis" "Drosophila simulans HW09" - "Listeria meningitis" + "orbital myositis" "conductive deafness-ptosis-skeletal anomalies syndrome" "homocarnosinosis" + "Listeria meningitis" "FOCUS"@en "SH-SY5Y" "melanoma cell line" @@ -47295,8 +47295,8 @@ "ILSXISS66/TejJ" "Enlarged kidney" "Enlarged vestibular aqueduct" - "Athetosis" "peroxisome biogenesis disorder due to PEX12 defect" + "Athetosis" "age of onset of pancreatic ductal adenocarcinoma" "Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature" "zinc finger protein 566" @@ -47396,16 +47396,16 @@ "hereditary inclusion body myopathy type 4" "level of procollagen galactosyltransferase 1 in blood serum" "obsolete_48,XXYY syndrome" + "Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement" "well-differentiated liposarcoma" "Low birth weight - dwarfism - dysgammaglobulinemia" - "Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement" "obsolete_neurocranial trabecula" "branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome" "osteoma" "ACTH-Producing Pituitary Gland Carcinoma" + "1-palmitoyl-2-linoleoyl-GPC (16:0/18:2) measurement" "Lower limb asymmetry" "fibrinogen measurement" - "1-palmitoyl-2-linoleoyl-GPC (16:0/18:2) measurement" "endocrine system component" "hearing impairment and infertile male syndrome" "lethal midline granuloma" @@ -47485,8 +47485,8 @@ "chromosome transmission fidelity protein 8 homolog" "level of UV excision repair protein RAD23 homolog A in blood serum" "neurodegeneration, childhood-onset, with progressive microcephaly" - "obsolete_coloboma of iris" "transcription elongation factor A protein-like 8" + "obsolete_coloboma of iris" "Abnormality of the breast" "obsolete_familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation" "amyloidoma" @@ -47638,8 +47638,8 @@ "TPM3-related myopathy" "CFW"@en "cartilage" - "Sus scrofa" "CD24-positive, CD8 single-positive thymocyte" + "Sus scrofa" "porokeratosis 1, Mibelli type" "Rhodopseudomonas palustris CGA009" "mitochondrial complex 2 deficiency, nuclear type 2" @@ -47687,8 +47687,8 @@ "cardiomyopathy, familial restrictive, 3" "IQ domain-containing protein F3" "phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform" - "HIB-1B" "susceptibility to mumps measurement" + "HIB-1B" "GRB2-associated-binding protein 1" "alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A" "platelet-derived growth factor receptor-like protein measurement" @@ -47784,20 +47784,20 @@ "nucleolin measurement" "Rare genetic vascular disease" "level of protein FAM9B in blood serum" + "obsolete_neuroectodermal melanolysosomal disease" "Atypical Endometrial Hyperplasia" "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" + "skeletal dysplasia and progressive central nervous system degeneration, lethal" "keratin, type I cytoskeletal 17 measurement" + "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" @@ -47828,8 +47828,8 @@ "spinal cord neuroblastoma" "tumor necrosis factor receptor superfamily member 8 measurement" "posterior midgut proper primordium" - "obsolete_ALG9-CDG" "anti-Epstein Barr virus antibody measurement" + "obsolete_ALG9-CDG" "1-naphthyl isothiocyanate" "obsolete duplication of the esophagus" "interleukin-18-binding protein measurement" @@ -47860,8 +47860,8 @@ "CCD-1070Sk"@en "juvenile ankylosing spondylitis" "ECCITE-seq" - "Illumina HiSeq 1500" "process" + "Illumina HiSeq 1500" "Bla-1" "JAR" "distal" @@ -47900,16 +47900,16 @@ "pterin" "X-linked Alport syndrome" "epithelium of bronchus" - "obsolete_peripheral precocious puberty" "cell growth regulator with EF hand domain protein 1" "level of oxysterols receptor LXR-beta in blood serum" + "obsolete_peripheral precocious puberty" "obsolete_spheroid body myopathy" "obsolete_Aicardi syndrome" "SYNGAP1-related developmental and epileptic encephalopathy" "curcumin" "obsolete_intermediate DEND syndrome" - "deafness-vitiligo-achalasia syndrome" "holoprosencephaly 12 with or without pancreatic agenesis" + "deafness-vitiligo-achalasia syndrome" "Mixed Cell Uveal Melanoma" "hatching long-pec" "low tension glaucoma" @@ -47944,8 +47944,8 @@ "level of heparan sulfate glucosamine 3-O-sulfotransferase 3B1 in blood serum" "level of pregnancy-specific beta-1-glycoprotein 2 in blood serum" "droplet-based single-cell RNA library preparation" - "Antwerpen ecotype" "connective tissue-activating peptide III measurement" + "Antwerpen ecotype" "obsolete syndromic optic nerve hypoplasia" "urine collection" "obsolete_endometrium" @@ -48006,12 +48006,12 @@ "secondary vasculitis" "short-rib thoracic dysplasia 14 with polydactyly" "ILSXISS79/TejJ" + "obsolete_immunoglobulin-mediated membranoproliferative glomerulonephritis" "lutropin-choriogonadotropic hormone receptor" "anemia, nonspherocytic hemolytic" "apolipoprotein A-I" "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" "membrane cofactor protein" @@ -48064,9 +48064,9 @@ "(+)-abscisic acid" "renal-hepatic-pancreatic dysplasia 1" "mannose-6-phosphate isomerase" - "portion of meristem tissue" - "Increased circulating lactate concentration" "hypothalamic disorder" + "Increased circulating lactate concentration" + "portion of meristem tissue" "KRT14-related epidermolysis bullosa simplex" "level of protein EOLA1 (human) in blood serum" "epididymis" @@ -48110,9 +48110,9 @@ "obsolete_terminal nerve" "fibroma" "obsolete_congenital factor XII deficiency" - "2',3'-cyclic-nucleotide 3'-phosphodiesterase measurement" "obsolete_prostate specific antigen measurement" "stearoyl sphingomyelin (d18:1/18:0) measurement" + "2',3'-cyclic-nucleotide 3'-phosphodiesterase measurement" "IgG isotype profile measurement" "Penicillium viridicatum" "V-set and transmembrane domain-containing protein 4" @@ -48165,8 +48165,8 @@ "serine protease inhibitor Kazal-type 6 measurement" "obsolete_genetic central nervous system and retinal vascular disease" "receptor-type tyrosine-protein phosphatase S measurement" - "5q35 microduplication syndrome" "N-gondoylethanolamine" + "5q35 microduplication syndrome" "glutathione S-transferase theta-1" "amino acid transporter heavy chain SLC3A1" "X-12410 measurement" @@ -48249,12 +48249,12 @@ "3-Hydroxy-3-methyl butyric acid measurement" "Ollier disease" "Acute Leukemia" - "92-1"@en "leukemoid reaction" - "Alexander disease type II" + "92-1"@en "otitis media with effusion" - "neuronopathy, distal hereditary motor, autosomal recessive 5" + "Alexander disease type II" "oculomaxillofacial dysostosis" + "neuronopathy, distal hereditary motor, autosomal recessive 5" "cobalamin binding intrinsic factor" "apraxia" "level of FAD-dependent oxidoreductase domain-containing protein 1 in blood serum" @@ -48311,8 +48311,8 @@ "progressive microcephaly-seizures-cortical blindness-developmental delay syndrome" "level of protein ADM2 in blood serum" "Leymus triticoides" - "obsolete_coloboma of macula" "Mild short stature" + "obsolete_coloboma of macula" "obsolete_neurenteric cyst" "has an isolated presentation" "deoxyadenosine monophosphate measurement" @@ -48342,13 +48342,13 @@ "HSD10 mitochondrial disease" "congenital mesoblastic nephroma" "paroxysmal dyskinesia" - "129S/Sv"@en "Jalili syndrome" "South Asian" "susceptibility to hepatitis B infection measurement" "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1" "obsolete rare odontal or periodontal disorder" "CD69-positive, CD8-positive single-positive thymocyte" + "129S/Sv"@en "ROS-17/2.8" "porokeratosis plantaris palmaris et disseminata" "level of splicing factor 3B subunit 4 in blood serum" @@ -48374,9 +48374,8 @@ "sn-Hi-C" "salivary gland adenoid cystic carcinoma" "Rare bone disease related to a common gene or pathway defect" - "phosphatidylcholine (18:0/20:2, 20:0/18:2) measurement" - "dickkopf-like protein 1 measurement" "X-11315-to-pyroglutamine ratio" + "dickkopf-like protein 1 measurement" "cadaver dissection" "Thalassiosira pseudonana CCMP1335" "Respiratory failure requiring assisted ventilation" @@ -48385,6 +48384,7 @@ "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" "level of required for drug-induced death protein 1 in blood serum" "Lactobacillus reuteri 100-23" "choline" @@ -48450,16 +48450,16 @@ "glutaryl-CoA dehydrogenase deficiency" "Large forehead" "nucleosome assembly protein 1-like 2 measurement" - "diaminopimelate measurement" "obsolete_PYCR1-related de Barsy syndrome" + "diaminopimelate measurement" "obsolete_mucopolysaccharidosis type 6, slowly progressing" "obsolete_thoraco-abdominal enteric duplication" "obsolete_Intellectual disability, Birk-Barel type" - "glycerol kinase deficiency, juvenile form" + "secondary hyperparathyroidism" "Atypical Lipomatous Tumor" - "Increased circulating prolactin concentration" + "glycerol kinase deficiency, juvenile form" "chromosome, telomeric region" - "secondary hyperparathyroidism" + "Increased circulating prolactin concentration" "pseudouridine" "trait in response to ethanol" "benign paroxysmal torticollis of infancy" @@ -48506,15 +48506,15 @@ "torsion dystonia 6" "proximal convoluted tubule" "mucinous adenofibroma" - "keratin, type I cytoskeletal 20 measurement" "obsolete_anti-herpes simplex virus 6 antibody measurement"@en + "keratin, type I cytoskeletal 20 measurement" "adult liposarcoma" "suppurative thyroiditis" "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" @@ -48542,15 +48542,15 @@ "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" @@ -48575,9 +48575,9 @@ "lupus vulgaris" "Mixed Epithelial Stromal Tumor of the Kidney" "KN73"@en - "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2" "homocystinuria due to methylene tetrahydrofolate reductase deficiency" "developmental and epileptic encephalopathy, 6" + "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2" "L2 larva" "response to xenobiotic stimulus" "level of contactin-6 in blood serum" @@ -48616,8 +48616,8 @@ "aggressive behavior" "obsolete generalized bulbospinal muscular atrophy" "trafficking protein particle complex subunit 6A" - "obsolete_sphingolipidosis" "homeobox protein Hox-D4" + "obsolete_sphingolipidosis" "obsolete_isolated anterior cervical hypertrichosis" "femoral neck bone mineral density" "alveolar rhabdomyosarcoma" @@ -48733,8 +48733,8 @@ "ADP-ribosylation factor-like protein 6-interacting protein 1" "congenital nephrotic syndrome, Finnish type" "glucokinase measurement" - "breast-ovarian cancer, familial, susceptibility to" "microfibrillar-associated protein 2 measurement" + "breast-ovarian cancer, familial, susceptibility to" "1-palmitoylglycerophosphocholine measurement" "scavenger mRNA-decapping enzyme DcpS" "atypical Rett syndrome" @@ -48864,8 +48864,8 @@ "triatrial heart" "tyrosine-protein kinase LCK measurement" "GM17833" - "plasma betaine measurement" "obsolete_autosomal dominant macrothrombocytopenia" + "plasma betaine measurement" "protein MEMO1" "level of CD7 molecule in blood serum" "alpha,alpha-trehalase activity" @@ -48878,8 +48878,8 @@ "hypertrophic cardiomyopathy 1" "genetic disorder" "Cryptosporidiosis - chronic cholangitis - liver disease" - "glutathione S-transferase theta-2" "X-12411 measurement" + "glutathione S-transferase theta-2" "basophil percentage of granulocytes" "Ehlers-Danlos syndrome, fibronectinemic type" "triglycerides in HDL measurement " @@ -49011,8 +49011,8 @@ "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" @@ -49077,8 +49077,8 @@ "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" @@ -49113,14 +49113,14 @@ "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" - "reading and spelling ability" "multiple acyl-CoA dehydrogenase deficiency" "disorder of visual system" + "reading and spelling ability" "vaginal yolk sac tumor" "diffuse lipomatosis" "Shukla-Vernon syndrome" @@ -49188,8 +49188,8 @@ "nipple carcinoma" "Benign Carotid Body Paraganglioma" "Fc receptor-like protein 6 measurement" - "obsolete_somite 13" "izumo sperm-egg fusion protein 4" + "obsolete_somite 13" "CS57874" "Muscular hypertrophy - hepatomegaly - polyhydramnios" "apelin" @@ -49359,8 +49359,8 @@ "free cholesterol to total lipids in large HDL percentage " "level of oxysterol-binding protein 1 in blood serum" "obsolete_medullary sponge kidney" - "level of killer cell lectin-like receptor subfamily B member 1 in blood serum" "dihomo-linoleate 20:2n6 measurement" + "level of killer cell lectin-like receptor subfamily B member 1 in blood serum" "HT-29" "West Nile virus" "iPS DF 19.11" @@ -49405,10 +49405,10 @@ "obsolete adult hypophosphatasia" "level of arylamine N-acetyltransferase 1 in blood serum" "glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1" + "obsolete_pyruvate carboxylase deficiency, infantile form" "methylcobalamin deficiency type cblE" "UTMC-2"@en "Festuca rubra subsp. littoralis" - "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" @@ -49421,8 +49421,8 @@ "GM17168" "obsolete_proximal portion of right coronary artery" "cardiomyopathy-cataract-hip spine disease syndrome" - "kin of IRRE-like protein 3 measurement" "Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome" + "kin of IRRE-like protein 3 measurement" "transmembrane protein 52 measurement" "cystinuria type A" "wake after sleep onset"@en @@ -49470,12 +49470,12 @@ "level of N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase in blood serum" "neoplasm of mature T-cells or NK-cells" "Congenital intrinsic factor deficiency" - "26S proteasome non-ATPase regulatory subunit 11 measurement" "Streptomyces cattleya" "46,XY ovotesticular disorder of sex development" "IGFBP-3 measurement" "carnitine O-palmitoyltransferase 1, muscle isoform" "Chagas disease" + "26S proteasome non-ATPase regulatory subunit 11 measurement" "hereditary disorder of connective tissue" "helminthiasis, animal" "hypotrichosis simplex" @@ -49492,10 +49492,10 @@ "X-12717 measurement" "IMR-32" "millimeter" - "X-linked intellectual disability, Abidi type" - "obsolete_mevalonate kinase deficiency" "parafollicular cell" "level of heparan sulfate glucosamine 3-O-sulfotransferase 5 in blood serum" + "X-linked intellectual disability, Abidi type" + "obsolete_mevalonate kinase deficiency" "obsolete moderate COVID-19 infection" "obsolete chloroplast part" "obsolete_epididymus" @@ -49536,8 +49536,8 @@ "Craniofacial dysplasia-osteopenia syndrome" "obsolete_opercular lateral line neuromast" "Nematoda" - "Leber congenital amaurosis 8" "respiratory system venous blood vessel" + "Leber congenital amaurosis 8" "Rothmund-Thomson syndrome type 2" "3-Indolepropionic acid to LysoPC 20:1 ratio" "kallikrein-11 measurement"@en @@ -49687,21 +49687,21 @@ "nafadotride" "phosphatidylcholine O-36:2" "pooled clone sequencing" - "level of serglycin in blood serum" "obsolete_congenital pseudoarthrosis of clavicle" + "level of serglycin in blood serum" "craniodiaphyseal dysplasia" "tyrosine-protein kinase lyn measurement" "level of malonyl-CoA decarboxylase, mitochondrial in blood serum" "level of islet amyloid polypeptide in blood serum" "obsolete_autosomal recessive hyperinsulinism due to SUR1 deficiency" + "obsolete_mammary-digital-nail syndrome" "chloride measurement" "arylsulfatase B measurement" - "obsolete_mammary-digital-nail syndrome" + "uncharacterized protein C1orf115 measurement" "neuroectodermal-endocrine syndrome" "serine/threonine-protein kinase WNK1" "choroideremia-hypopituitarism syndrome" "vertebral disorder" - "uncharacterized protein C1orf115 measurement" "polyploidy" "obsolete_inguinal region" "hypoplasminogenemia" @@ -49717,15 +49717,15 @@ "capillary malformation-arteriovenous malformation 1" "immunodeficiency due to CD25 deficiency" "obsolete_PHAVER syndrome" - "complement C1q tumor necrosis factor-related protein 3 measurement" "maleylacetoacetate isomerase" + "complement C1q tumor necrosis factor-related protein 3 measurement" "5alpha-androstan-3alpha,17beta-diol 17-glucuronide measurement" "eosinophil percentage of granulocytes" "pyruvate dehydrogenase protein X component, mitochondrial" "obsolete_autosomal dominant limb-girdle muscular dystrophy type 1F" "obsolete_mucopolysaccharidosis type 7" - "balding measurement" "protein tyrosine phosphatase type IVA 3" + "balding measurement" "X-11552 measurement" "skin microbiome measurement"@en "phosphoribosylaminoimidazole carboxylase deficiency" @@ -49748,11 +49748,11 @@ "pulmonary surfactant-associated protein d measurement" "454 GS 20 standard manufacturer's protocol" "anti-human herpes virus 7 antibody measurement"@en - "triacylglycerol 50:3 measurement"@en "typhasterol" "sphingomyelin 22:1 measurement"@en - "developing seed stage" + "triacylglycerol 50:3 measurement"@en "GM17107" + "developing seed stage" "early whole plant fruit ripening stage" "regulation of platelet activation" "obsolete_myometrium" @@ -49771,16 +49771,16 @@ "malignant neoplasm of endocervix" "3-Indolepropionic acid to Homovanillic acid ratio" "macrodactyly of fingers" - "fetal hypoxia" "level of nuclear protein MDM1 in blood serum" "autosomal dominant prognathism" "dilated cardiomyopathy 1HH" + "fetal hypoxia" "age of onset of systemic lupus erythematosus" "alcohol-related disorders" "qualitative or quantitative defects of tropomyosin" "level of protocadherin beta-10 in blood serum" - "meiotic recombination protein DMC1/LIM15" "Constitutional mismatch repair deficiency syndrome" + "meiotic recombination protein DMC1/LIM15" "GIST-plus syndrome" "hereditary hyperferritinemia with congenital cataracts" "level of forkhead box protein M1 in blood serum" @@ -49788,9 +49788,9 @@ "synapsin-3" "level of retinoblastoma-binding protein 5 in blood serum" "hypergonadotropic hypogonadism-cataract syndrome" + "group XIIB secretory phospholipase A2-like protein measurement" "terpene" "logarithmic phase culture" - "group XIIB secretory phospholipase A2-like protein measurement" "antennal primordium2" "nickel chloride hexahydrate" "X-linked dominant inheritance" @@ -49918,10 +49918,10 @@ "Huntington disease-like 3" "salivary duct carcinoma" "neuronal growth regulator 1 measurement" - "autosomal recessive spinocerebellar ataxia 12" "obsolete_T+ B+ severe combined immunodeficiency" - "heart valve prosthesis" + "autosomal recessive spinocerebellar ataxia 12" "single nucleus RNA sequencing" + "heart valve prosthesis" "Charcot-Marie-Tooth disease type 4A" "feather" "pterin-4-alpha-carbinolamine dehydratase" @@ -50074,9 +50074,9 @@ "pediatric liposarcoma" "Taeniasis" "butyrylcarnitine measurement"@en - "SKLMS1" - "osteoporosis, childhood- or juvenile-onset, with developmental delay" "FAS-associated death domain protein" + "osteoporosis, childhood- or juvenile-onset, with developmental delay" + "SKLMS1" "lipoxin A4" "myopathy, tubular aggregate, 1" "Limb pain" @@ -50118,8 +50118,8 @@ "Gaucher disease" "myristoleate" "mosaic trisomy 20" - "Allergy" "RCB1903 cell" + "Allergy" "Alkalosis" "obsolete_fibular hemimelia, unilateral" "tryptophan" @@ -50128,12 +50128,12 @@ "hyperinsulinemic hypoglycemia, familial, 1" "obsolete_5q14.3 microdeletion syndrome" "glucosamine-6-phosphate isomerase 1 measurement" - "1-palmitoyl-2-arachidonoyl-GPI (16:0/20:4) measurement" "hypertrophic cardiomyopathy 6" - "iPS-18a" + "1-palmitoyl-2-arachidonoyl-GPI (16:0/20:4) measurement" "deoxycytidylate deaminase" "MCF12A" "Lattice retinal degeneration" + "iPS-18a" "level of alanine--glyoxylate aminotransferase in blood serum" "Sickle cell - hemoglobin C disease" "gastrula stage" @@ -50192,10 +50192,10 @@ "cadherin-related family member 3 measurement" "obsolete_petal" "obsolete plastid part" + "enzymatic dissociation" "cranial ganglion" "hyper-IgE recurrent infection syndrome 1, autosomal dominant" "splenic white pulp macrophage" - "enzymatic dissociation" "disseminated" "split foot, unilateral" "C9 carnitine measurement" @@ -50403,11 +50403,11 @@ "RRBS" "lymphatic malformation 3" "obsolete_congenital symblepharon" - "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency" "Brugada syndrome 1" - "blood-injection-injury phobia" "developmental delay with autism spectrum disorder and gait instability" + "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency" "level of pleckstrin homology domain-containing family A member 3 in blood serum" + "blood-injection-injury phobia" "epithelial cell adhesion molecule measurement"@en "E3 ubiquitin-protein ligase SMURF2" "histone H2A type 1-A" @@ -50437,8 +50437,8 @@ "obsolete_autosomal recessive hyperinsulinism due to Kir6.2 deficiency" "scrotal disorder" "uncharacterized protein C1orf185 measurement" - "FEV change measurement" "Alpha ketoglutarate measurement"@en + "FEV change measurement" "secondary palate" "colon adenocarcinoma" "level of beta-1,3-galactosyltransferase 2 in blood serum" @@ -50456,8 +50456,8 @@ "X-11593--O-methylascorbate measurement" "hereditary neurocutaneous angioma" "posterior ceratohyal" - "blood N-acetyl-2-aminoadipate measurement" "hormone" + "blood N-acetyl-2-aminoadipate measurement" "Senecio squalidus subsp. squalidus" "partial deletion of the short arm of chromosome 11" "childhood-onset hypophosphatasia"@en @@ -50477,10 +50477,10 @@ "self-healing collodion baby" "myeloperoxidase (MPO)-DNA complex measurement"@en "obsolete_nucleus of terminal stria" - "Peroxisome biogenesis disorder-Zellweger syndrome spectrum" "hereditary sensory and autonomic neuropathy type 1" - "obsolete_combined deficiency of factor V and factor VIII" + "Peroxisome biogenesis disorder-Zellweger syndrome spectrum" "iatrogenic Kaposi's sarcoma" + "obsolete_combined deficiency of factor V and factor VIII" "1-stearoyl-GPC (18:0) measurement" "secretagogin" "tsA-201" @@ -50510,9 +50510,9 @@ "acute myeloid leukemia, del(13q14-q21)" "pineal region yolk sac tumor" "macrophage mannose receptor 1 measurement" + "thiopurine metabolite measurement" "Fanconi anemia complementation group E" "Panc 08.13" - "thiopurine metabolite measurement" "bone remodeling disease" "N-(2-furoyl)glycine" "mesomelic dwarfism-cleft palate-camptodactyly syndrome" @@ -50523,8 +50523,8 @@ "level of 5alpha-pregnane-3beta,20alpha-diol disulfate in blood" "obsolete_mitochondrial DNA maintenance syndrome" "growth factor receptor-bound protein 14 measurement" - "growth differentiation factor 15 measurement" "Leishmania chagasi" + "growth differentiation factor 15 measurement" "obsolete_anterior endoderm anlage" "obsolete_Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons" "ornithine decarboxylase antizyme 1 measurement" @@ -50561,8 +50561,8 @@ "Mini-International Neuropsychiatric Interview" "level of calpain small subunit 1 in blood serum" "level of synaptotagmin-11 in blood serum" - "acetylphosphate measurement" "E3 ubiquitin-protein ligase RNF31" + "acetylphosphate measurement" "ataxia - deafness - intellectual disability syndrome" "YTS-Eco"@en "Dengue virus 1" @@ -50606,9 +50606,9 @@ "Piscirickettsiaceae Infections" "Spinocerebellar ataxia - dysmorphism" "mucolipidosis type II" + "X-linked intellectual disability, Zorick type" "X-17325 measurement" "level of endoplasmic reticulum membrane sensor NFE2L1 in blood serum" - "X-linked intellectual disability, Zorick type" "lysophosphatidylcholine 18:2" "Lactobacillus parabuchneri" "megalencephaly-polydactyly syndrome" @@ -50623,8 +50623,8 @@ "obsolete_pseudoachondroplasia" "level of metalloproteinase inhibitor 4 in blood serum" "pyridoxal phosphate phosphatase measurement" - "ascitic fluid" "anti-BK polyomavirus antibody measurement"@en + "ascitic fluid" "Neisseria gonorrhoeae F62" "CD8-positive, alpha-beta T cell" "phosphate-regulating neutral endopeptidase PHEX" @@ -50645,9 +50645,9 @@ "ocular albinism" "cervix epithelium" "level of hemoglobin subunit delta in blood serum" + "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement" "obsolete_disorder of thiamine metabolism and transport" "protein DGCR14 measurement" - "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement" "ADP-dependent glucokinase" "immunoprecipitate" "killer cell immunoglobulin-like receptor 2DL2" @@ -50661,9 +50661,9 @@ "linear and whorled nevoid hypermelanosis" "Solanum phureja" "pterin-4-alpha-carbinolamine dehydratase 2" - "obsolete_tongue mucosa" "ZW10 interactor" "opiorphin prepropeptide" + "obsolete_tongue mucosa" "Bacillus cereus ATCC 14579" "ovarian neuroendocrine neoplasm" "retinitis punctata albescens" @@ -50683,8 +50683,8 @@ "obsolete_immunodeficiency due to MASP-2 deficiency" "X-12095--N1-methyl-3-pyridone-4-carboxamide measurement" "obsolete_pseudohypoaldosteronism type 2E" - "QT interval" "asialoglycoprotein receptor 2 measurement" + "QT interval" "GM17103" "obsolete lens shape anomaly" "speriolin-like protein" @@ -50695,9 +50695,9 @@ "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" "thigh muscle fat infiltration measurement"@en "Tessier cleft" @@ -50837,8 +50837,8 @@ "mature CD1a-positive dermal dendritic cell" "3-hydroxydodecanedioate measurement" "lysophosphatidylcholine 17:0 measurement" - "HG03558" "right" + "HG03558" "obsolete_endocrine system component" "musculoskeletal system disease" "GM17167" @@ -50850,8 +50850,8 @@ "aspergillus seropositivity" "coenzyme Q10 deficiency" "obsolete congenital myopathy with cores" - "response to topoisomerase inhibitor" "causalgia" + "response to topoisomerase inhibitor" "anal canal cancer" "mandibulofacial dysostosis with mental deficiency" "ovary rhabdomyosarcoma" @@ -50876,9 +50876,9 @@ "ATP-dependent RNA helicase DHX8" "obsolete_autopod" "aortic vascular smooth muscle cell proliferation measurement" - "Mixed Tumor of the Salivary Gland" "pristanate measurement" "deafness-oligodontia syndrome" + "Mixed Tumor of the Salivary Gland" "PTB-containing, cubilin and LRP1-interacting protein" "annexin A5 measurement" "lymphangioendothelioma" @@ -51189,12 +51189,12 @@ "CYP3A4 activity" "autosomal recessive spinocerebellar ataxia 13" "SK-N-AS" - "obsolete_glycoproteinosis" "genochondromatosis type 1" - "OX-2 membrane glycoprotein measurement" + "obsolete_glycoproteinosis" "acute myeloid leukemia, t(5;11)(q35;p15)" "Abnormal urine output" "excreta" + "OX-2 membrane glycoprotein measurement" "level of deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial in blood serum" "ticlopidine" "acral self-healing collodion baby" @@ -51299,13 +51299,13 @@ "Granulomatosis with Polyangiitis" "mitochondrial complex V (ATP synthase) deficiency nuclear type 4B" "obsolete_cystic fibrosis" - "obsolete_infantile onset spinocerebellar ataxia" "Pneumocephalus" "protein disulfide-isomerase A5 measurement" + "obsolete_infantile onset spinocerebellar ataxia" "ADP-ribosylhydrolase ARH1" "disease of bone structure" - "Charcot-Marie-Tooth disease type 1F" "Colon Dysplasia" + "Charcot-Marie-Tooth disease type 1F" "X-17335 measurement" "1-linoleoyl-sn-glycero-3-phosphoethanolamine" "obsolete_anal region" @@ -51421,8 +51421,8 @@ "obsolete_mesenchyme pectoral fin" "level of cytokine SCM-1 beta in blood serum" "non-alcoholic fatty liver" - "Granta-519" "D-ribitol-5-phosphate cytidylyltransferase" + "Granta-519" "pharynx carcinoma in situ" "level of leukocyte-specific transcript 1 protein in blood serum" "level of protein enabled in blood serum" @@ -51466,9 +51466,9 @@ "spermatogenic failure 55" "variable charge X-linked protein 3" "obsolete_Young syndrome" + "obsolete_partial trisomy/tetrasomy of chromosome 5" "glycogen storage disease due to glucose-6-phosphatase deficiency type IA" "Kyphoscoliosis" - "obsolete_partial trisomy/tetrasomy of chromosome 5" "hidrotic ectodermal dysplasia, Halal type" "Conjunctivitis" "ADP-ribosylation factor-like protein 1 measurement" @@ -51531,8 +51531,8 @@ "level of prostasin in blood serum" "Oy-0" "bacillaceae seropositivity" - "lymphocyte" "mitogen-activated protein kinase 8 measurement" + "lymphocyte" "microsecond" "Hemiparesis" "obsolete_partial trisomy of the long arm of chromosome 9" @@ -51595,11 +51595,11 @@ "severe Canavan disease" "plexin-A4" "UDP-glucuronosyltransferase 1-6 measurement" - "obsolete_embryonic labial sensory complex" "t-cell receptor-associated transmembrane adapter 1 measurement" + "obsolete_embryonic labial sensory complex" + "dysplastic oral keratinocyte" "level of oxysterol-binding protein-related protein 9 in blood serum" "threonine" - "dysplastic oral keratinocyte" "mRNA turnover protein 4" "Impaired epinephrine-induced platelet aggregation" "eye" @@ -51624,8 +51624,8 @@ "tissue factor pathway inhibitor measurement" "chronic cholangitis" "Steel syndrome" - "Charcot-Marie-Tooth Disease, axonal, type 2GG" "Triticum durum" + "Charcot-Marie-Tooth Disease, axonal, type 2GG" "Bruton-type agammaglobulinemia" "level of gem-associated protein 6 in blood serum" "spermatogenesis-associated protein 9" @@ -51901,9 +51901,9 @@ "late-onset myasthenia gravis" "glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form" "obsolete_Hirschsprung disease" - "acrocraniofacial dysostosis" "laryngeal mucoepidermoid carcinoma" "Lactobacillus gasseri" + "acrocraniofacial dysostosis" "carbohydrate sulfotransferase 11" "gray platelet syndrome" "Bulbous nose" @@ -51990,27 +51990,28 @@ "level of neurensin-1 in blood serum" "Kapur-Toriello syndrome" "obsolete_Muir-Torre syndrome" + "mercury poisoning" + "dual specificity protein phosphatase 4 measurement" "obsolete_meningioma" "prostate cancer" - "mercury poisoning" "pilodental dysplasia-refractive errors syndrome" "carcinoembryonic antigen-related cell adhesion molecule 19" "allergic sensitization measurement" "secreted protein identification design" "protein disulfide-isomerase A4" "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome" - "dual specificity protein phosphatase 4 measurement" - "autosomal recessive nonsyndromic hearing loss 102" "4-methylguaiacol sulfate measurement" + "autosomal recessive nonsyndromic hearing loss 102" "protein eva-1 homolog C measurement" + "congenital myopathy with cores" "acute myeloid leukemia, inv(16)(p13.3;q24.3)" "18S rRNA aminocarboxypropyltransferase" - "congenital myopathy with cores" "cardiac troponin I measurement" "isolated anhidrosis with normal sweat glands" "semaphorin-6D" - "PL45" + "obsolete_congenital absence/hypoplasia of fingers excluding thumb, unilateral" "Colon Inflammatory Polyp" + "PL45" "pathological complete response" "Capture-HiC" "UCSF4" @@ -52018,7 +52019,6 @@ "level of pre-mRNA-splicing factor RBM22 in blood serum" "Charcot-Marie-Tooth disease type 2J" "lateral geniculate body" - "obsolete_congenital absence/hypoplasia of fingers excluding thumb, unilateral" "obsolete_rectum" "obsolete_disorder of tyrosine metabolism" "obsolete_lissencephaly due to LIS1 mutation" @@ -52051,8 +52051,8 @@ "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" @@ -52067,8 +52067,8 @@ "nectin-4" "Neonatal sepsis" "serine/threonine-protein kinase Pim-2" - "regulator of hemoglobinization and erythroid cell expansion protein (human)" "empathy measurement" + "regulator of hemoglobinization and erythroid cell expansion protein (human)" "classic complement early component deficiency" "obsolete_odonto-tricho-ungual-digito-palmar syndrome" "calsyntenin-3 measurement" @@ -52122,8 +52122,8 @@ "intellectual disability-expressive aphasia-facial dysmorphism syndrome" "level of amiloride-sensitive amine oxidase [copper-containing] in blood serum" "hepatitis A virus infection" - "rhegmatogenous retinal detachment" "PLATE-Seq" + "rhegmatogenous retinal detachment" "glycine amidinotransferase, mitochondrial" "diacylglycerol 34:2" "pleckstrin homology domain-containing family F member 2" @@ -52144,9 +52144,9 @@ "zinc finger protein 566 measurement" "TH-2" "level of calcium-activated potassium channel subunit beta-3 in blood serum" - "Lethal ataxia with deafness and optic atrophy" "Pneumonia, Aspiration" "level of AN1-type zinc finger protein 2B in blood serum" + "Lethal ataxia with deafness and optic atrophy" "trefoil factor 1 measurement" "supratentorial cancer" "FREQ-Seq" @@ -52310,25 +52310,25 @@ "level of protein Jumonji in blood serum" "bronchial disease" "CD244 measurement" - "obsolete_unknown leukodystrophy" "level of beta-1,4-galactosyltransferase 2 in blood serum" "hand dermatosis" - "Hypocrea virens" + "obsolete_unknown leukodystrophy" "level of glutamate--cysteine ligase regulatory subunit in blood serum" + "Hypocrea virens" "hyaluronan and proteoglycan link protein 4" "level of gem-associated protein 7 in blood serum" "3-Indolepropionic acid to Phenylpyruvic acid ratio" + "Syndromic developmental defect of the eye" "Methanobrevibacter smithii ATCC 35061" "neuroligin-1" - "Syndromic developmental defect of the eye" "isovaleric acidemia" "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" @@ -52338,15 +52338,15 @@ "obsolete_ALG11-CDG" "dynactin subunit 2 measurement" "SCIM" - "tetragametic chimerism" "response to rosuvastatin"@en + "tetragametic chimerism" "obsolete_tracheal anomaly" "progression free survival" "follistatin-related protein 5 measurement" "level of interleukin-2 receptor subunit beta in blood serum" - "Encephalitis, Varicella Zoster" "nylon substrate" "level of protein Dr1 in blood serum" + "Encephalitis, Varicella Zoster" "level of CMRF35-like molecule 9 in blood serum" "X-linked intellectual disability, Seemanova type" "illegal drug consumption" @@ -52461,10 +52461,10 @@ "outer ear morphology trait" "visceral neuropathy, familial" "eyelid gland" - "obsolete_isolated anorectal malformation" "N18" "quinine measurement" "mitochondrial DNA deletion syndrome with progressive myopathy" + "obsolete_isolated anorectal malformation" "CS57924" "PHACE syndrome" "X-22143 measurement" @@ -52472,8 +52472,8 @@ "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" @@ -52511,8 +52511,8 @@ "meningioma" "response to antipsychotic drug" "Say-field-Coldwell syndrome" - "Alpha-Ketoglutaric Acid" "myotonia fluctuans" + "Alpha-Ketoglutaric Acid" "obsolete Okamoto syndrome" "GM17733" "level of exosome complex component RRP40 in blood serum" @@ -52535,8 +52535,8 @@ "mitochondrial-processing peptidase subunit alpha" "Bacteroides fragilis NCTC 9343" "severe combined immunodeficiency due to DCLRE1C deficiency" - "calcium-binding protein 8 measurement" "3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia" + "calcium-binding protein 8 measurement" "congenital factor XIII deficiency" "lung endothelial cell" "obsolete_tall stature-intellectual disability-facial dysmorphism syndrome" @@ -52561,8 +52561,8 @@ "level of cytoplasmic dynein 1 light intermediate chain 1 in blood serum" "particulate matter air pollution measurement" "overdose"@en - "cystoisosporiasis" "obsolete_genetic cardiac anomaly" + "cystoisosporiasis" "obsolete_neonatal epilepsy syndrome" "Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome" "kelch-like protein 3" @@ -52589,10 +52589,10 @@ "level of transcription factor SOX-6 in blood serum" "nerve conduction amplitude" "Chronic diarrhea" + "social deprivation" "ribonucleotide metabolic process" "PL-21" "hearing loss, autosomal dominant 79" - "social deprivation" "Pulmonary embolism" "cutaneous syphilis" "CapSeq" @@ -52614,9 +52614,9 @@ "obsolete_Sanfilippo syndrome type D" "obsolete_congenital adrenal hyperplasia" "obsolete_ring chromosome 12" - "interleukin-5 receptor subunit alpha measurement" "S-nitrosoglutathione" "supraglottis squamous cell carcinoma" + "interleukin-5 receptor subunit alpha measurement" "abortion" "glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" "X-04500 measurement" @@ -52649,8 +52649,8 @@ "stromelysin-2" "level of zinc finger protein 10 in blood serum" "strongyloidiasis" - "level of ER membrane protein complex subunit 5 in blood serum" "level of Phosphatidylcholine (O-18:2_18:1) in blood serum" + "level of ER membrane protein complex subunit 5 in blood serum" "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" "Pachycladon cheesemanii" "obsolete_Hurler-Scheie syndrome" @@ -52664,12 +52664,12 @@ "aldo-keto reductase family 1 member A1" "extravillous trophoblast" "obsolete_dermatofibrosarcoma protuberans" + "Ataxia-oculomotor apraxia type 4" + "non-word reading" "WI38" "maturity-onset diabetes of the young type 6" "benign neoplasm of gum" "Cushing syndrome" - "Ataxia-oculomotor apraxia type 4" - "non-word reading" "SNU1" "obsolete_polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" "translational bias design" @@ -52708,19 +52708,19 @@ "obsolete_familial episodic pain syndrome with predominantly upper body involvement" "N-acetyl-L-aspartate(2-)" "amelia of upper limb, unilateral" - "Ptosis - upper ocular movement limitation - absence of lacrimal punctum" - "obsolete_T-B+ severe combined immunodeficiency due to CD45 deficiency" "small ubiquitin-related modifier 2" "carcinoembryonic antigen-related cell adhesion molecule 20" "Rabson-Mendenhall syndrome" "Hemoglobin SC Disease" + "Ptosis - upper ocular movement limitation - absence of lacrimal punctum" "Monteggia's fracture" "dynactin-associated protein measurement" - "toothache" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome" "level of protocadherin gamma-A12 in blood serum" + "obsolete_T-B+ severe combined immunodeficiency due to CD45 deficiency" "acute myeloid leukemia, t(11;15)(p15;q35)" + "toothache" "hereditary spastic paraplegia 48" "protein mago nashi" "isolated aniridia" @@ -52809,9 +52809,9 @@ "Joubert syndrome" "mucolipidosis type IV" "combined immunodeficiency with skin granulomas" - "X-17354 measurement" "atrial natriuretic factor measurement" "level of B-cell antigen receptor complex-associated protein alpha chain in blood serum" + "X-17354 measurement" "homeobox protein CDX-1" "Hydrocephalus" "level of CUB and zona pellucida-like domain-containing protein 1 in blood serum" @@ -53034,8 +53034,8 @@ "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" @@ -53084,10 +53084,10 @@ "submandibular adenitis" "obsolete_partial deletion of chromosome 19" "obsolete_Cronkhite-Canada syndrome" - "protein sprouty homolog 1 measurement" "Trilogy of Fallot" - "urine specific gravity measurement" + "protein sprouty homolog 1 measurement" "bacillus seropositivity" + "urine specific gravity measurement" "great vessel cancer" "obsolete_Bangstad syndrome" "Arf-GAP domain and FG repeat-containing protein 1" @@ -53118,10 +53118,10 @@ "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" "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" @@ -53249,9 +53249,9 @@ "circadian rhythm" "extra-ocular muscle" "congenital analbuminemia" + "immature reticulocyte measurement" "glycoprotein" "neuroendocrine disorder" - "immature reticulocyte measurement" "crystal arthropathy" "SLAM family member 9" "cullin-3" @@ -53275,10 +53275,10 @@ "P2X purinoceptor 6" "Benign Thyroid Gland Neoplasm" "gamma-glutamylcitrulline measurement" + "hypomyelination neuropathy-arthrogryposis syndrome" "Lactobacillus reuteri" "carcinoid tumor" "(5-hydroxyindol-3-yl)acetic acid" - "hypomyelination neuropathy-arthrogryposis syndrome" "malignant secondary hypertension" "Myhre syndrome" "trametinib" @@ -53368,20 +53368,20 @@ "obsolete_classic maple syrup urine disease" "oculocerebrofacial syndrome, Kaufman type" "benign neoplasm of major salivary gland" - "severe congenital hypochromic anemia with ringed sideroblasts" "myringosclerosis" + "severe congenital hypochromic anemia with ringed sideroblasts" "E3 ubiquitin-protein ligase CBL measurement" "angiopoietin-related protein 7 measurement" "Salmonella enterica subsp. enterica serovar Pullorum" "acute myeloid leukemia, t(16;21)(q24;q22)" + "blood N-acetylasparagine measurement" "protein mago nashi homolog 2" "number of teeth measurement" "anovulation" - "fish disease" - "blood N-acetylasparagine measurement" "foot muscle strength measurement" - "RCM-1" + "fish disease" "CAST-ChIP" + "RCM-1" "structural congenital heart disease, multiple types - GATA4" "lymphedema-distichiasis syndrome" "sitting height ratio" @@ -53396,8 +53396,8 @@ "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" @@ -53447,8 +53447,8 @@ "Disorder of porphyrin and haem metabolism" "level of complement C1q tumor necrosis factor-related protein 3 in blood serum" "fatty acyl-CoA reductase 1 deficiency" - "probable RNA-binding protein 19 measurement" "copy number gain" + "probable RNA-binding protein 19 measurement" "SLIT and NTRK-like protein 6" "herpetic gastritis" "X-13859 measurement" @@ -53503,8 +53503,8 @@ "calpain small subunit 1" "ketone body measurement" "Generalized congenital lipodystrophy with myopathy" - "cerotoylcarnitine (C26) measurement" "level of tyrosine-protein kinase receptor UFO in blood serum" + "cerotoylcarnitine (C26) measurement" "Renpenning syndrome" "neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities" "hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency" @@ -53574,8 +53574,8 @@ "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" @@ -53612,8 +53612,8 @@ "Vulvar Lichen Sclerosus" "CS57737" "level of lymphocyte antigen 6 complex locus protein G6c in blood serum" - "obsolete_hereditary sensorimotor neuropathy with hyperelastic skin" "familial isolated restrictive cardiomyopathy" + "obsolete_hereditary sensorimotor neuropathy with hyperelastic skin" "neuronopathy, distal hereditary motor, type 2B" "receptor activity-modifying protein 3" "response to metamizole"@en @@ -53656,9 +53656,9 @@ "Ventouse delivery" "alanine--tRNA ligase, cytoplasmic measurement" "triglycerides to total lipids in large VLDL percentage " + "free stigmasterol measurement"@en "craniometaphyseal dysplasia" "congenital enteropathy due to enteropeptidase deficiency" - "free stigmasterol measurement"@en "Burkholderia mallei" "obsolete_retroperitoneum" "pituitary-dependent Cushing's disease" @@ -53804,10 +53804,10 @@ "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" @@ -53930,8 +53930,8 @@ "obsolete_hypochord" "erythrose measurement" "obsolete_Rothmund-Thomson syndrome" - "taurolithocholic acid sulfate" "obsolete_Melhem-Fahl syndrome" + "taurolithocholic acid sulfate" "electrocardiogram repolarisation abnormality"@en "obsolete familial mesial temporal lobe epilepsy with febrile seizures" "head mesenchyme" @@ -53976,9 +53976,9 @@ "interleukin-6 receptor subunit beta measurement" "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3" "histone deacetylase complex subunit SAP18" - "gamma-glutamylhistidine measurement" "Endocardial fibrosis" "MANSC domain-containing protein 1" + "gamma-glutamylhistidine measurement" "fetal akinesia deformation sequence 1" "interstitial lung disease" "obsolete_axial skeleton structure" @@ -54250,9 +54250,9 @@ "Giant Lymph Node Hyperplasia" "anus leiomyosarcoma" "mitochondrial peptide methionine sulfoxide reductase measurement" - "protein FAM162A" "GM12813" "carbohydrate sulfotransferase 3" + "protein FAM162A" "MCIXC" "melanocortin-2 receptor accessory protein" "Marshall syndrome" @@ -54284,11 +54284,11 @@ "secreted frizzled-related protein 1 measurement" "obsolete_response to high-dose melphalan" "scrotal carcinoma" - "cobalamin transport" "basal endosperm transfer layer" - "obsolete_cancer" + "cobalamin transport" "Macaca radiata" "obsolete_vagal ganglion 2" + "obsolete_cancer" "sperm acrosome membrane-associated protein 1" "steroidogenic acute regulatory protein, mitochondrial" "severe hemophilia A" @@ -54402,9 +54402,9 @@ "hemimegalencephaly" "injury" "Fusion-seq" - "level of heparan sulfate 2-O-sulfotransferase 1 in blood serum" "level of transcobalamin-1 in blood serum" "cortex of kidney" + "level of heparan sulfate 2-O-sulfotransferase 1 in blood serum" "gastrin-producing neuroendocrine tumor" "Streptococcus pyogenes M49 591" "congenital bile acid synthesis defect 4" @@ -54446,8 +54446,8 @@ "Hemoglobin A2 to Total Hemoglobin Ratio Measurement" "Ocular Melanoma" "Bifidobacterium longum" - "childhood brainstem astrocytoma" "bacteroidales seropositivity" + "childhood brainstem astrocytoma" "Abnormality of the dentition" "Kn-0" "protein transport protein Sec61 subunit gamma measurement" @@ -54510,10 +54510,10 @@ "integrin alpha-I: beta-1 complex measurement" "hemihyperplasia-multiple lipomatosis syndrome" "obsolete_autosomal recessive lymphoproliferative disease" + "syphilitic aortitis" "GM17738" "anti-SARS-CoV-2 IgG measurement"@en "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" - "syphilitic aortitis" "Hepatic necrosis" "vitamin D" "Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type" @@ -54528,8 +54528,8 @@ "protein transport protein Sec61 subunit beta" "AB SOLiD 5500" "chronic kidney disease" - "level of Phosphatidylcholine (18:2_0:0) in blood serum" "obsolete_larval stage" + "level of Phosphatidylcholine (18:2_0:0) in blood serum" "mean corpuscular volume" "neck" "triglycerides to total lipids in medium HDL percentage " @@ -54568,8 +54568,8 @@ "celecoxib" "Abnormal blood ion concentration" "hereditary angioedema with normal C1Inh" - "cholesterol in IDL measurement " "SPO" + "cholesterol in IDL measurement " "isolated autosomal dominant hypomagnesemia, Glaudemans type" "cleft lip and alveolus" "thymic T cell selection" @@ -54601,8 +54601,8 @@ "level of Ile-Val in blood" "familial chylomicronemia syndrome" "Ascomycota" - "age related macular degeneration 5" "total lipids in very small VLDL measurement" + "age related macular degeneration 5" "cortical thymoma" "obsolete non-infectious posterior uveitis" "Scott syndrome" @@ -54628,8 +54628,8 @@ "X-linked intellectual disability-acromegaly-hyperactivity syndrome" "array control buffer" "Blindness-scoliosis-arachnodactyly syndrome" - "muscleblind-like protein 1" "monocyte measurement" + "muscleblind-like protein 1" "acute endometritis" "Komagataella pastoris" "level of G protein-coupled receptor kinase 5 in blood serum" @@ -54638,8 +54638,8 @@ "Menstrual disorder"@en "middRAD" "Focal epilepsy - intellectual disability - cerebro-cerebellar malformation" - "obsolete congenital central hypoventilation syndrome" "level of importin subunit alpha-3 in blood serum" + "obsolete congenital central hypoventilation syndrome" "obsolete_autosomal recessive hypophosphatemic rickets" "Congenital intrauterine infection-like syndrome" "level of 3'(2'),5'-bisphosphate nucleotidase 1 in blood serum" @@ -54707,9 +54707,9 @@ "mulibrey nanism" "cyclin-dependent kinase 4 inhibitor B" "leukocyte immunoglobulin-like receptor subfamily B member 5" - "intersectin-1 measurement" "cyclazosin hydrochloride" "Onthophagus nigriventris" + "intersectin-1 measurement" "level of cytoglobin in blood serum" "benign neoplasm of spleen" "fibula fracture" @@ -54747,9 +54747,9 @@ "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" @@ -54831,14 +54831,14 @@ "X-10458 measurement" "cysteine-rich protein 2" "obsolete_low anorectal malformation" - "lens cortex" "3-fold embryo Ce" + "lens cortex" "obsolete_iris" "level of single-pass membrane and coiled-coil domain-containing protein 2 in blood serum" "obsolete_trisomy 18" "Isoleucylleucine/leucylisoleucine measurement" - "corpus callosum central volume measurement"@en "HapMap cell line" + "corpus callosum central volume measurement"@en "skull base meningioma" "Lactococcus lactis subsp. lactis Il1403" "obsolete_mosaic trisomy 1" @@ -54908,10 +54908,10 @@ "familial hyperlipidemia" "influenza B seropositivity" "phosphatidylcholine diacyl C32:2 measurement" - "arachidonoylcarnitine (C20:4) measurement" "obsolete_ileum" - "triacylglycerol 52:5 measurement"@en + "arachidonoylcarnitine (C20:4) measurement" "dipetalonemiasis" + "triacylglycerol 52:5 measurement"@en "white wine liking measurement" "atypical hemolytic-uremic syndrome with I factor anomaly" "X-linked intellectual disability with marfanoid habitus" @@ -55018,11 +55018,11 @@ "contractures, pterygia, and variable skeletal fusions syndrome 1B" "polyglutamine-binding protein 1" "obsolete_partial duplication of the short arm of chromosome 17" - "height-adjusted body mass index" - "regulation of RNA splicing" "trisomy 22" + "height-adjusted body mass index" "CD37 molecule" "ribose phosphate diphosphokinase activity" + "regulation of RNA splicing" "obsolete_dentinogenesis imperfecta type 2" "Lactobacillus johnsonii" "obsolete_qualitative or quantitative defects of dysferlin" @@ -55049,9 +55049,9 @@ "spermatogenesis-associated protein 9 measurement" "obsolete_Sandhoff disease, adult form" "level of beta-defensin 127 in blood serum" - "obsolete_myocardium" "enzyme"@en "enzyme" + "obsolete_myocardium" "Cardiac anomalies - heterotaxy" "calcyphosin" "high-risk pregnancy" @@ -55131,8 +55131,8 @@ "obsolete_coloboma of superior eyelid" "C20:0 sphingomyelin measurement" "trigonocephaly-bifid nose-acral anomalies syndrome" - "mating type alpha" "Blastocystis hominis infectious disease" + "mating type alpha" "obsolete_ciliary ganglion" "obsolete_beta-mannosidosis" "eye disc" @@ -55173,8 +55173,8 @@ "membranous glomerulonephritis" "ILSXISS97/TejJ" "partial duplication of chromosome X" - "calcium-binding protein 2" "myeloblastin measurement" + "calcium-binding protein 2" "antiphospholipid antibody measurement" "Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay" "frizzled-2" @@ -55188,10 +55188,10 @@ "level of cytosolic purine 5'-nucleotidase in blood serum" "GM17743" "systolic heart failure" - "Primary Effusion Lymphoma" "adhesion G-protein coupled receptor G5 measurement" "posterior column ataxia-retinitis pigmentosa syndrome" "galactonate" + "Primary Effusion Lymphoma" "bifunctional coenzyme A synthase" "ADP-ribosylation factor-like protein 5A" "Severe hydrocephalus" @@ -55211,8 +55211,8 @@ "transcription elongation factor A protein-like 3" "level of T-complex protein 11-like protein 1 in blood serum" "Hand-foot syndrome" - "level of [pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial in blood serum" "NCI-H2804" + "level of [pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial in blood serum" "obsolete_Caffey disease" "prostate gland cancer cell" "eukaryotic translation initiation factor 1A, X-chromosomal" @@ -55255,10 +55255,10 @@ "baculoviral IAP repeat-containing protein 3 measurement" "level of 40S ribosomal protein S3a in blood serum" "Hemoglobin C Measurement" - "lysophosphatidylcholine acyl C17:0 measurement" "butyrophilin-like protein 3" "O(4')-sulfo-L-tyrosine" "Ovine herpesvirus 2" + "lysophosphatidylcholine acyl C17:0 measurement" "magnesium:calcium ratio" "hyaluronan and proteoglycan link protein 1 measurement" "hereditary hyperparathyroidism" @@ -55311,10 +55311,10 @@ "Bromus secalinus" "infantile-onset epilepsy" "protein turtle homolog A measurement" + "nitrite measurement" "Drosophila teissieri" "transmembrane protein 87B" "level of Lys-Leu in blood" - "nitrite measurement" "pseudohypoaldosteronism" "IgM short lived plasma cell" "bacteroides seropositivity" @@ -55348,8 +55348,8 @@ "muscleblind-like protein 2" "microgram per square centimeter" "neutrophil measurement" - "level of metabotropic glutamate receptor 4 in blood serum" "CXCL10 measurement" + "level of metabotropic glutamate receptor 4 in blood serum" "obsolete_intersegmental vessel" "7q11.23 microduplication syndrome" "quinate measurement" @@ -55401,16 +55401,16 @@ "periventricular nodular heterotopia 9" "optic nerve neoplasm" "peptidoglycan recognition protein 1 measurement" - "Persistence of hemoglobin F" "lethal arthrogryposis-anterior horn cell disease syndrome" + "Persistence of hemoglobin F" "infantile systemic hyalinosis" "biotinidase deficiency" "heartwater disease" "primary orthostatic hypotension" "insulin measurement" "energy expenditure" - "level of cytochrome P450 2C19 in blood serum" "GM17783" + "level of cytochrome P450 2C19 in blood serum" "obsolete_7q11.23 microduplication syndrome" "clavicle fracture" "herpes virus seropositivity" @@ -55502,8 +55502,8 @@ "Hoyeraal-Hreidarsson syndrome" "induced hypertension, pregnancy" "induced Hypertensions, pregnancy" - "hypertensions, pregnancy induced" "hypertension, pregnancy induced" + "hypertensions, pregnancy induced" "hypertension, pregnancy transient" "hypertension complicating pregnancy" "hypertension induced by pregnancy" @@ -58065,9 +58065,9 @@ "IDDFBA" "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioural abnormalities" "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities" - "facial palsy" "facial dysmorphism, immunodeficiency, livedo, and short stature" "fils" + "facial palsy" "AMI-193" "espiramida" "spiramide" @@ -58146,10 +58146,6 @@ "Sodium n-butyrate" "Butanoic acid, sodium salt (1:1)" "Sodium propanecarboxylate" - "(3S-trans)-3-((1,3-benzodioxol-5-yloxy)methyl)-4-(4-fluorophenyl)piperidine" - "paroxetina" - "(-)-(3S,4R)-4-(p-fluorophenyl)-3-((3,4-(methylenedioxy)phenoxy)methyl)piperidine" - "paroxetinum" "epinephrine racemic" "(+-)-adrenaline" "2-(methylamino)-1-(3,4-dihydroxyphenyl)ethanol" @@ -58160,6 +58156,10 @@ "racemic adrenaline" "racepinefrina" "racepinefrinum" + "(3S-trans)-3-((1,3-benzodioxol-5-yloxy)methyl)-4-(4-fluorophenyl)piperidine" + "paroxetina" + "(-)-(3S,4R)-4-(p-fluorophenyl)-3-((3,4-(methylenedioxy)phenoxy)methyl)piperidine" + "paroxetinum" "Mitochondrial abnormalities" "(+-)-Aspartic acid" "Asp" @@ -58178,8 +58178,8 @@ "tuba auditiva; tuba auditoria; tuba auditivea" "eustachian tube" "tuba pharyngotympanica" - "JE" "Severe psychomotor retardation" + "JE" "FANCW" "Freeman Sheldon variant" "Freeman Sheldon syndrome, variant" @@ -58648,10 +58648,10 @@ "Hopp syndrome" "DEDSM" "disorder of vestibular system" - "heart valves" "stomodaeal valve" "valvule" "heart valve" + "heart valves" "liver vascular element" "hepatic vascular element" "liver vascular system" @@ -58694,10 +58694,10 @@ "diclofenac" "diclofenac acid" "diclofenamic acid" + "immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis" "Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related" "MDDGA13" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13" - "immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis" "galactosylceramide beta-galactosidase activity" "galactosylcerebrosidase activity" "ceramide galactosidase activity" @@ -60012,9 +60012,9 @@ "cataract, congenital lamellar" "cataract, posterior polar, 2" "cataract 16, multiple types" - "1-methylurate anions" "Cystopyelitis" "Pyelocystitis" + "1-methylurate anions" "SCN8A encephalopathy" "SCN8A epilepsy" "squamous cell carcinoma of the vulva/vagina" @@ -60570,8 +60570,8 @@ "Hcy" "campomelic dysplasia and related disorders" "spastic paraplegia 36, autosomal dominant" - "fungal endocarditis" "gallbladder, agenesis OF" + "fungal endocarditis" "alcohol dependence, protection against" "aerodigestive tract cancer, squamous cell, alcohol-related, protection against" "alcohol dependence, susceptibility to" @@ -63093,8 +63093,8 @@ "N-methylhyoscine bromide" "(-)-(1S,3s,5R,6R,7S)-6,7-epoxy-8-methyl-3-[(S)-tropoyloxy]tropanium bromide" "methylscopolamine bromide" - "horizontal septum of vertebra" "arrhythmogenic right ventricular dysplasia, familial, 5" + "horizontal septum of vertebra" "Hemoglobin H-related intellectual disability" "ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related" "intellectual disability with Hemoglobin H" @@ -64162,8 +64162,8 @@ "cutis laxa, autosomal recessive, type IC" "cutis laxa, autosomal recessive, type 1C" "cutis laxa with Severe pulmonary, gastrointestinal, and urinary abnormalities" - "1,5-diaminonaphthalene" "1,5-Naphthalenediamine" + "1,5-diaminonaphthalene" "1,5-Naphthylenediamine" "1,5-naphthalenediamine" "1,5-Diaminonaphthalene" @@ -66586,15 +66586,15 @@ "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" @@ -67999,8 +67999,8 @@ "hemispheric regions" "PDMI" "diabetes mellitus, permanent, of infancy" - "disease of sweat glands" "disorder of sweat glands" + "disease of sweat glands" "MAHCC" "methylmalonic acidemia and homocystinuria, cblC type" "methylmalonic aciduria and homocystinuria, cblC type" @@ -74667,7 +74667,6 @@ "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" @@ -74679,6 +74678,7 @@ "epilepsy, progressive myoclonic, 2A" "Epm2" "epilepsy, progressive myoclonic, 2B" + "genetic cardiac tumor" "TTM" "notochordal cancer" "duodenal benign neoplasm" @@ -74849,9 +74849,6 @@ "children's interstitial lung disease" "child" "D,L-carnitine" - "AntP2" - "P3 AntOrg" - "AntP1" "Asthma, Occupational" "Asthmas, Occupational" "Occupational asthma" @@ -74859,6 +74856,9 @@ "Occupational Asthma" "Occupational Asthmas" "Industrial asthma" + "AntP2" + "P3 AntOrg" + "AntP1" "minicore myopathy" "multiminicore disease with external ophthalmoplegia" "multicore myopathy with external ophthalmoplegia" @@ -76294,10 +76294,10 @@ "copper-overload cirrhosis" "infection caused by Yersinia enterocolitica" "oenocyte specific anlage" - "chronic atrophic polychondritis" - "recurrent polychondritis" "encephalopathy, familial, with Collins bodies" "encephalopathy, familial, with neuroserpin inclusion bodies" + "chronic atrophic polychondritis" + "recurrent polychondritis" "single-organism transport" "dystonia-Parkinsonism, adult-onset" "Parkinson disease 14, autosomal recessive" @@ -76494,9 +76494,6 @@ "PC O-42:5" "PC(O-42:5)" "phosphatidylcholine(O-42:5)" - "TRICHODENTAL dysplasia" - "Tricho-dental dysplasia" - "Tricho-dental syndrome" "anal canal neuroendocrine tumor, well differentiated, low or intermediate grade" "anal canal neuroendocrine tumour" "anal neuroendocrine tumor" @@ -76507,6 +76504,9 @@ "anal neuroendocrine tumour" "anus neuroendocrine tumor" "neuroendocrine tumour of anus" + "TRICHODENTAL dysplasia" + "Tricho-dental dysplasia" + "Tricho-dental syndrome" "Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma" "paraganglioma and gastrointestinal stromal tumour" "paraganglioma and gastrointestinal stromal tumor" @@ -79405,17 +79405,17 @@ "O-3-Amino-3-deoxy-alpha-D-glucopyranosyl-(1-4)-O-(2,6-diamino-2,3,6-trideoxy-alpha-D-ribohexopyranosyl-(1-4))-2-deoxy-D-streptamine" "Nebramycin factir 6" "Tobracin (TN)" - "3-(hexadecanoyloxy)-4-(trimethylammonio)butanoate" - "hexadecanoylcarnitines" - "O-hexadecanoylcarnitine" - "hexadecanoylcarnitine" - "palmitoylcarnitine" "propanoylglycine" "N-Propionylglycine" "propionylaminoacetic acid" "propanamidoacetic acid" "N-Propionyl-Glycine" "2-propanamidoacetic acid" + "3-(hexadecanoyloxy)-4-(trimethylammonio)butanoate" + "hexadecanoylcarnitines" + "O-hexadecanoylcarnitine" + "hexadecanoylcarnitine" + "palmitoylcarnitine" "Acetylalanine" "(S)-2-(acetylamino)propanoic acid" "2-Acetamidopropionic acid" @@ -81483,13 +81483,13 @@ "4-Phenyl-n-butyric acid" "gamma-phenylbutyric acid" "pericardial mesothelioma" + "synostosis of talus and calcaneus with short stature" + "TCC" + "tarsal carpal coalition syndrome" "poliglusam" "Deacetylchitin" "beta-1,4-Poly-D-glucosamine" "[4)-beta-D-GlcpN(1->]n" - "synostosis of talus and calcaneus with short stature" - "TCC" - "tarsal carpal coalition syndrome" "microcoria - congenital nephrotic syndrome" "microcoria-congenital nephrotic syndrome" "microcoria - congenital nephrosis" @@ -82418,9 +82418,9 @@ "kidney adenocarcinoma" "renal cell adenocarcinoma" "intracranial aneurysm" - "severe or complete loss of motor function in the lower extremities and lower portions of the trunk" "pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency" "PXE-like disorder with multiple coagulation Factor deficiency" + "severe or complete loss of motor function in the lower extremities and lower portions of the trunk" "open spine" "cleft spine" "ADPCLD" @@ -83378,9 +83378,9 @@ "amyotrophic lateral sclerosis 5, juvenile" "arterial tortuosity" "ATS" - "spinocerebellar ataxia 12" "1-Hydroxypropane-1,2,3-tricarboxylic acid" "1-Hydroxytricarballylic acid" + "spinocerebellar ataxia 12" "Medrano Roldan syndrome" "intellectual disability, X-linked, syndromic, Raymond type" "mental retardation, X-linked, syndromic, Raymond type" @@ -83566,9 +83566,9 @@ "dithioglycerine" "Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability" "Ehlers-Danlos syndrome with progeroid facies and mild mental retardation" - "basophil adenoma" "ligamentum latum uteri" "broad ligament" + "basophil adenoma" "WOODS syndrome" "cerebellar hypoplasia with pancytopenia" "Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia" @@ -83708,10 +83708,10 @@ "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" @@ -83827,9 +83827,9 @@ "abdominal fat" "neuroendocrine tumor of anal canal" "neuroendocrine tumour of anal canal" + "ulnar-mammary syndrome of Pallister" "pulmonary lymphangiomyomatosis" "lymphangioleiomyomatosis" - "ulnar-mammary syndrome of Pallister" "lipodystrophy, type B, associated with Mandibuloacral dysplasia" "MANDIBULOACRAL dysplasia with type B lipodystrophy" "MADB" @@ -85777,6 +85777,9 @@ "Müllerian duct anomalies-limb anomalies syndrome" "limb uterus syndrome" "severe upper limb hypoplasia and Mullerian duct anomalies" + "Jackson Barr syndrome" + "deafness conductive ptosis skeletal anomalies" + "deafness, conductive, with ptosis and skeletal anomalies" "Listeria monocytogenes Meningitides" "cerebritis, Listeria" "Listeria Cerebritides" @@ -85791,9 +85794,6 @@ "Cerebritides, Listeria" "Listeria monocytogenes meningitis" "Meningoencephalitides, Listeria" - "Jackson Barr syndrome" - "deafness conductive ptosis skeletal anomalies" - "deafness, conductive, with ptosis and skeletal anomalies" "periodontitis, juvenile" "periodontitis, aggressive, 1" "periodontitis, prepubertal" @@ -86339,11 +86339,11 @@ "C.I. Natural Yellow 3" "C.I. 75300" "Natural yellow 3" + "HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS" + "HPE12" "deafness, congenital, with vitiligo and achalasia" "congenital deafness with vitiligo and achalasia" "deafness vitiligo achalasia" - "HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS" - "HPE12" "low tension Glaucomas" "tension Glaucomas, Low" "Glaucomas, normal tension" @@ -86552,11 +86552,11 @@ "stem cell leukaemia (disease)" "leukemia, acute, X-linked" "stem cell leukemia (disease)" - "DSMA5" - "spinal muscular atrophy, distal, autosomal recessive, 5" "oblique facial clefts" "oculomaxillofacial dysplasia with oblique facial clefts" "Richieri Costa Gorlin syndrome" + "DSMA5" + "spinal muscular atrophy, distal, autosomal recessive, 5" "dibenzothiazepines" "encephalopathy, acute necrotizing, susceptibility to" "Postinfectious acute necrotizing hemorrhagic encephalopathy" @@ -90217,8 +90217,8 @@ "yolk sac tumour" "endodermal sinus tumor of the testis" "yolk sac tumor" - "endodermal sinus neoplasm of testis" "yolk Sac tumour of the testis" + "endodermal sinus neoplasm of testis" "yolk Sac neoplasm of testis" "yolk Sac tumor of testis" "endodermal sinus tumour of testis" @@ -90992,10 +90992,10 @@ "1,1-dimethylbiguanide" "LA 6023" "N,N-dimethylimidodicarbonimidic diamide" - "AIDS-related lymphoma" "Pcarp" "POSTERIOR column ataxia with retinitis pigmentosa" "AXPC1" + "AIDS-related lymphoma" "prostate tumor cell" "prostate carcinoma cell" "prostate tumour cell" @@ -92992,9 +92992,9 @@ "varices" "Hyperplasia of forehead" "Hypertrophy of forehead" + "secondary hyperparathyroidism NOS" "nuclear chromosome, telomere" "nuclear chromosome, telomeric region" - "secondary hyperparathyroidism NOS" "mitotic spindle organisation in nucleus" "mitotic spindle organization in nucleus" "spindle organization and biogenesis in nucleus during mitosis" @@ -94049,8 +94049,6 @@ "10n" "hyperinsulinemic hypoglycemia" "parietal region" - "major depressive disorder 2" - "major depressive disorder 1" "transient arthropathy" "band" "stab cell" @@ -94784,6 +94782,8 @@ "ANCA-associated vasculitis" "Wg" "CP" + "major depressive disorder 1" + "major depressive disorder 2" "histidine metabolic process" "innominate" "Gastro pain" @@ -95014,8 +95014,8 @@ "NEM9" "nemaline myopathy caused by mutation in KLHL41" "nemaline myopathy 9" - "CDG with developmental anomaly" "blood serum chitinase-3-like protein 1 amount" + "CDG with developmental anomaly" "green crab" "common shore crab" "non-obstructive hydrocephalus" @@ -95275,9 +95275,9 @@ "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" @@ -95334,15 +95334,15 @@ "blood serum small integral membrane protein 9 amount" "blood serum complement C1q and tumor necrosis factor-related protein 9A amount" "Anna's hummingbird" - "dominant congenital ichthyosiform erythroderma" - "ichthyosis vulgaris, autosomal dominant" - "autosomal dominant ichthyosis vulgaris" "carcinoma ex pleomorphic adenoma of parotid gland" "parotid carcinoma ex pleomorphic adenoma" "carcinoma ex pleomorphic adenoma of the parotid gland" "parotid gland carcinoma ex pleomorphic adenoma" "carcinoma ex pleomorphic adenoma of the parotid" "carcinoma ex pleomorphic adenoma of parotid" + "dominant congenital ichthyosiform erythroderma" + "ichthyosis vulgaris, autosomal dominant" + "autosomal dominant ichthyosis vulgaris" "liver enzyme levels" "THBD-related bleeding disorder" "THBD-related coagulopathy" @@ -96256,11 +96256,11 @@ "urinary bladder flat intraepithelial lesion" "anatomical entity ceramide amount" "blood serum myeloid leukemia factor 1 amount" + "mesenchymal hamartoma" "mood disorder" "affective disorders" "mood disorders" "major mood disorders" - "mesenchymal hamartoma" "WS780" "hypothalamic hamartomas" "congenital hypothalamic hamartoma syndrome" @@ -96346,10 +96346,10 @@ "epithelioma calcificans of Malherbe" "pilomatrixoma, benign" "Pilomatricoma" + "GM17787 cell" "dipotassium dichromate" "potassium dichromate(VI)" "potassium dichromate(2-)" - "GM17787 cell" "Pulmonary Emphysema" "emphysema" "EMPHYSEMA, PULMONARY" @@ -96698,13 +96698,13 @@ "macrophage polarization" "Congenital hypogonadotropic hypogonadism with anosmia" "Olfacto-genital pathological sequence" - "Infantile dysmorphic sialidosis" - "Sialidosis type 2" "GM17116 cell" "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" @@ -96794,8 +96794,8 @@ "Bromobenzene" "bromobenzene" "uveitis" - "inflammation of uvea" "uveitis (disease)" + "inflammation of uvea" "uvea inflammation" "postprandial lipidemia" "Harper's syndrome" @@ -97470,8 +97470,8 @@ "Tests, Aphasia" "TEST NEUROPSYCHOL" "NEUROPSYCHOL TEST" - "Neuropsychologic Test" "Aphasia Test" + "Neuropsychologic Test" "cognitive test performance" "NEUROPSYCHOL TESTS" "Test, Neuropsychological" @@ -97535,8 +97535,6 @@ "ascending aorta diameter" "monosomy 8q22.1" "Nablus mask-like facial syndrome" - "calcium deficiency rickets" - "Calciopenic rickets" "inflammatory myofibroblastic tumour of bladder" "inflammatory myofibroblastic tumor of the urinary bladder" "inflammatory myofibroblastic tumor of the bladder" @@ -97554,6 +97552,8 @@ "inflammatory myofibroblastic tumor of urinary bladder" "inflammatory myofibroblastic neoplasm of the urinary bladder" "urinary bladder inflammatory myofibroblastic neoplasm" + "calcium deficiency rickets" + "Calciopenic rickets" "blood serum P2X purinoceptor 6 amount" "blood serum endosome/lysosome-associated apoptosis and autophagy regulator family member 2 amount" "blood serum far upstream element-binding protein 1 amount" @@ -98431,16 +98431,16 @@ "Boxer's nasal deformity" "Ski jump nose" "blood serum armadillo repeat-containing protein 8 amount" - "Drowsiness" - "Abnormal drowsiness" - "Somnolence" - "Sleepy" - "Sleepiness" "hindgut" "adult hindgut" "large bowel" "posterior intestine" "intestinum crassum" + "Drowsiness" + "Abnormal drowsiness" + "Somnolence" + "Sleepy" + "Sleepiness" "IPP-Gelfand syndrome" "blood 1-(1Z-hexadecenyl)-2-linoleoyl-sn-glycero-3-phosphoethanolamine amount" "HT-55" @@ -98687,9 +98687,9 @@ "Schizosaccharomyces pombeP" "fission yeast" "protein binding array" + "blood serum beta-galactoside alpha-2,6-sialyltransferase 2 amount" "3-phenoxybenzyl 3-(2,2-dichloroethenyl)-2,2-dimethylcyclopropanecarboxylate" "Permethrin" - "blood serum beta-galactoside alpha-2,6-sialyltransferase 2 amount" "blood serum serine hydroxymethyltransferase, cytosolic amount" "blood serum interferon-related developmental regulator 1 amount" "nageoire caudale" @@ -98809,9 +98809,9 @@ "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" @@ -99631,13 +99631,6 @@ "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" @@ -99646,6 +99639,13 @@ "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" @@ -99734,8 +99734,8 @@ "stage 0 carcinoma of rectum" "severe rectal dysplasia" "stage 0 rectum carcinoma" - "carcinoma in situ of the rectum" "stage 0 rectal carcinoma" + "carcinoma in situ of the rectum" "stage 0 rectal cancer aJCC v6 and v7" "marked dysplasia of the rectum" "blood serum V-set and transmembrane domain-containing protein 1 amount" @@ -99915,7 +99915,6 @@ "Abnormal skin structure" "Abnormal skin morphology" "Cubital region" - "Hepatolenticular degeneration" "Congenital disorder of glycosylation type 1k" "CDG-Ik" "Mannosyltransferase 1 deficiency" @@ -99926,6 +99925,7 @@ "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" @@ -100242,6 +100242,7 @@ "adult T-cell acute lymphoblastic leukaemia" "adult acute lymphoblastic leukaemia of T cell" "lissencephaly type 1" + "MRX35" "Squint" "Squint eyes" "Cross-eyed" @@ -100255,7 +100256,6 @@ "muscular enolase deficiency" "glycogenosis due to muscle beta-enolase deficiency" "glycogenosis type 13" - "MRX35" "Abnormality of the caudate nucleus" "blood serum SH3 and multiple ankyrin repeat domains protein 3 amount" "Streptomyces clavuligerus Higgens and Kastner 1971" @@ -100681,21 +100681,21 @@ "Nandrolone" "vanadium" "Eubacterium crispatum" - "gonad disease or disorder" - "gonadal disorders" "gonadal disorder" + "gonadal disorders" "disease or disorder of gonad" "disorder of gonad" "disease of gonad" "gonad disease" "disorder of gonads" + "gonad disease or disorder" "Droopy eyelid skin" "Baggy eyes" "Redundant eyelid skin" "Extra eyelid skin" "Eyelid dermatochalasia" - "blood serum cadherin-4 amount" "SPG16" + "blood serum cadherin-4 amount" "blood serum EF-hand domain-containing protein D1 amount" "blood serum visual system homeobox 1 amount" "IL-1beta" @@ -100916,8 +100916,8 @@ "Autosomal dominant MSMD due to a partial deficiency" "diacylglyceride measurement" "retinal dystrophy and iris coloboma with or without cataract" - "blood serum proline-rich AKT1 substrate 1 amount" "rectal tubular adenoma" + "blood serum proline-rich AKT1 substrate 1 amount" "Unspecified circulatory system disorder" "Cardiovascular Diseases" "Other forms of heart disease" @@ -101208,8 +101208,8 @@ "paroxysmal finger hematoma" "Achenbach syndrome" "paroxysmal hematoma of the finger" - "malignant melanoma of meninges" "melanoma of the leptomeninges" + "malignant melanoma of meninges" "melanoma (disease) of leptomeninx" "leptomeningeal melanoma" "meningeal melanoma" @@ -101472,8 +101472,8 @@ "Schneider's Line S2 cell" "SL2" "Schneider" - "S-2 cell" "SCHNEIDER-2 cell" + "S-2 cell" "S2 cell" "RCB1153" "SCHNEIDER S2 Cell" @@ -101501,6 +101501,22 @@ "vagina rhabdomyosarcoma" "GM15036 cell" "COLO-792" + "inclusion body myopathy 3" + "sporadic inclusion body myositis" + "Myositis, Inclusion Body" + "IBM" + "HIBM" + "inclusion body myopathy 2" + "Hereditary Inclusion Body Myopathy" + "IBM-3" + "Distal myopathy, Nonaka type" + "inclusion body myositis" + "Sporadic Inclusion Body Myositis" + "Nonaka myopathy" + "IBM2" + "sIBM" + "Distal Myopathy with Rimmed Vacuoles (DMRV)" + "Nonaka Myopathy" "Severe Sepsis" "Septicemia, NOS" "Poisoning, Blood" @@ -101524,22 +101540,6 @@ "POIS BLOOD" "Systemic infection" "Pyohemias" - "inclusion body myopathy 3" - "sporadic inclusion body myositis" - "Myositis, Inclusion Body" - "IBM" - "HIBM" - "inclusion body myopathy 2" - "Hereditary Inclusion Body Myopathy" - "IBM-3" - "Distal myopathy, Nonaka type" - "inclusion body myositis" - "Sporadic Inclusion Body Myositis" - "Nonaka myopathy" - "IBM2" - "sIBM" - "Distal Myopathy with Rimmed Vacuoles (DMRV)" - "Nonaka Myopathy" "blood serum coiled-coil domain-containing protein 24 amount" "blood serum thiamin pyrophosphokinase 1 amount" "Proud-Levine-Carpenter syndrome" @@ -101862,10 +101862,6 @@ "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" @@ -101882,6 +101878,10 @@ "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" @@ -102012,8 +102012,8 @@ "blood serum T-cell surface glycoprotein CD1a amount" "oldfield mouse" "High forehead" - "organ mucosa of bowel" "mucous membrane of intestine" + "organ mucosa of bowel" "bowel mucous membrane" "tunica mucosa intestini" "mucosa of organ of intestine" @@ -102142,6 +102142,11 @@ "Dyserythropoietic anaemia" "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" @@ -102151,15 +102156,10 @@ "palsy of facial nerve" "Bell palsy" "facial nerve palsy" - "fils syndrome" "Anterior synechiae" "Iridocorneal synechia" "Cornea-iris adhesion" "Iridocorneal adhesions" - "branched-chain aminotransferase deficiency" - "HVLI" - "hypervalinemia and hyperleucine-isoleucinemia" - "hypervalinemia or hyperleucine-isoleucinemia" "neural ganglion" "ganglia" "8-[3-(4-fluorophenoxy)propyl]-1-phenyl-1,3,8-triazaspiro[4.5]decan-4-one" @@ -102306,9 +102306,9 @@ "blood serum probable aminopeptidase NPEPL1 amount" "tetrasomy 11q24.1" "sodium butanoate" + "rac-4-[1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol" "(3S,4R)-3-[(1,3-benzodioxol-5-yloxy)methyl]-4-(4-fluorophenyl)piperidine" "Paroxetine" - "rac-4-[1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol" "computed tomography scan" "CT scan" "thymic rudiment" @@ -102340,10 +102340,10 @@ "auditory tube" "internal auditory tube" "Isolated Pierre Robin sequence" + "Global developmental delay, severe" "Japanese encephalitis" "Japanese B encephalitis" "Encephalitis, Japanese" - "Global developmental delay, severe" "Fanconi anemia, complementation group W" "cancer-related syndrome" "tumour syndrome" @@ -102729,6 +102729,9 @@ "Bedouin spastic ataxia syndrome" "Mousa-Al Din-Al Nassar syndrome" "TAG 56:7" + "retinal detachment" + "retina, detached" + "detached retina" "Rana marina" "marine toad" "giant toad" @@ -102741,9 +102744,6 @@ "Innominate artery" "Anthranilic acid" "2-aminobenzoic acid" - "retinal detachment" - "retina, detached" - "detached retina" "Fo B-cell" "follicular B-lymphocyte" "follicular B-cell" @@ -102936,8 +102936,8 @@ "lymphocytic and plasma cell neoplasm" "lymphocytic neoplasm" "lymphoid tumour" - "lymphocytic and plasma cell tumour" "lymphoid tumor" + "lymphocytic and plasma cell tumour" "blood serum CD3 epsilon amount" "blood serum E3 ubiquitin-protein ligase SIAH1 amount" "Adult-onset idiopathic torsion dystonia" @@ -103279,8 +103279,8 @@ "malignant body of uterus mixed tumor" "blood serum N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 amount" "cutaneous focal mucinosis of hair follicle" - "follicular mucinosis" "alopecia Mucinosa" + "follicular mucinosis" "alopecia mucinosis" "hair follicle cutaneous focal mucinosis" "alopecia mucinosa" @@ -103689,12 +103689,6 @@ "Acro-fronto-facio-nasal syndrome type 2" "Acro-fronto-facio-nasal dysostosis type 2" "Naguib-Richieri-Costa syndrome" - "ADMERF" - "Hereditary inclusion body myopathy with early respiratory failure" - "Myofibrillar myopathy with early respiratory failure" - "HMERF" - "HIBM-ERF" - "Edström Myopathy" "osteoclast-poor osteopetrosis" "mild autosomal recessive form osteopetrosis" "autosomal recessive osteopetrosis type 2" @@ -103704,6 +103698,12 @@ "OPTB2" "TNFSF11 autosomal recessive osteopetrosis" "autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11" + "ADMERF" + "Hereditary inclusion body myopathy with early respiratory failure" + "Myofibrillar myopathy with early respiratory failure" + "HMERF" + "HIBM-ERF" + "Edström Myopathy" "blood serum polyadenylate-binding protein 5 amount" "mental retardation, autosomal dominant type 8" "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1" @@ -103781,7 +103781,6 @@ "TP53 skin basal cell carcinoma" "basal cell carcinoma, susceptibility to, 7" "basal cell carcinoma 7" - "benign oesophagus tumour" "benign neoplasm of the esophagus" "benign esophageal neoplasm" "benign tumour of the oesophagus" @@ -103796,6 +103795,7 @@ "benign esophageal tumour" "benign esophagus tumor" "esophagus benign neoplasm" + "benign oesophagus tumour" "CMTX1" "Charcot Marie Tooth disease X-linked 1" "Charcot-Marie-Tooth neuropathy X-linked dominant 1" @@ -104006,6 +104006,7 @@ "chromoblastomycosis" "mossy foot disease" "Chromomycosis" + "L-phenylalanylglycine" "T-cell childhood acute lymphocytic leukemia" "T-cell paediatric acute lymphoblastic leukaemia" "childhood T-cell acute lymphoblastic leukemia" @@ -104023,7 +104024,6 @@ "T-cell childhood acute lymphoblastic leukemia" "childhood T-ALL" "T-cell childhood ALL" - "L-phenylalanylglycine" "HHV-8-related disorder" "arthrogryposis, impaired intellectual development, and seizures" "SLC35A3-CDG" @@ -104090,13 +104090,13 @@ "blood serum death-inducer obliterator 1 amount" "blood serum phosphoglycerate kinase 2 amount" "microcephaly-micromelia syndrome" - "blood serum (5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol amount" "thyroid gland spindle cell tumor with thymus-like differentiation" "settle" "settle tumor" "settle tumour" "spindle epithelial tumour with thymus-like differentiation tumour" "spindle epithelial tumor with thymus-like differentiation tumor" + "blood serum (5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol amount" "CD8-alpha-alpha-positive, alpha-beta intraepithelial T-lymphocyte" "CD8-alpha-alpha-positive, alpha-beta intraepithelial T lymphocyte" "CD8-alpha-alpha-positive, alpha-beta intraepithelial T-cell" @@ -104401,8 +104401,6 @@ "multipotent stem cell" "multipotent cell" "multifate stem cell" - "iliopsoas abscess" - "Psoas muscle abscess" "Costa's acrokeratoelastoidosis" "|punctate palmoplantar keratoderma type 3" "ake" @@ -104412,6 +104410,8 @@ "punctate palmoplantar keratoderma type III" "acrokeratoelastoidosis of Costa" "punctate palmoplantar keratoderma type 3" + "iliopsoas abscess" + "Psoas muscle abscess" "2-hydroxy-2-(4-hydroxy-3-methoxyphenyl)acetate" "regio occipitalis" "central nervous system primitive neuroectodermal neoplasm of adults" @@ -104456,6 +104456,9 @@ "blood serum semaphorin-4B amount" "COLO-849" "Burkholderia pseudomallei-like species" + "Ectromelia, Infectious" + "Mousepox (disorder)" + "infectious ectromelia" "Liver Fibrosis" "CL - Cirrhosis of liver" "Liver Fibroses" @@ -104477,9 +104480,6 @@ "Cirrhosis of liver NOS" "Cirrhoses, Liver" "Cirrhoses, Hepatic" - "Ectromelia, Infectious" - "Mousepox (disorder)" - "infectious ectromelia" "blood serum MORF4 family-associated protein 1-like 1 amount" "thrombocytopenia, X-linked, X-linked recessive" "thrombocytopenia, X-linked, intermittent, X-linked recessive" @@ -104575,12 +104575,12 @@ "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" @@ -104734,8 +104734,8 @@ "malignant Somatotrophinoma of the pituitary gland" "malignant Growth hormone producing tumour of the pituitary" "malignant Growth hormone producing tumour" - "malignant somatotropinoma of pituitary" "malignant Growth hormone producing tumour of pituitary" + "malignant somatotropinoma of pituitary" "malignant Growth hormone secreting tumour of the pituitary" "malignant Growth hormone secreting tumor of the pituitary gland" "malignant Growth hormone secreting pituitary gland tumor" @@ -104863,6 +104863,7 @@ "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" "non-infiltrating ductal with non-infiltrating lobular carcinoma of breast" "non-infiltrating ductal and non-infiltrating lobular breast carcinoma" @@ -104882,7 +104883,6 @@ "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" - "non-invasive ductal breast carcinoma with non-invasive lobular breast carcinoma" "hereditary nephroblastoma" "familial Wilms tumor" "familial Wilms tumour" @@ -105171,8 +105171,8 @@ "Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15" "HPDE-6/E6E7" "HPDE-6E6E7" - "HPDE-6_E6E7" "HPDE6-E6E7-HPV" + "HPDE-6_E6E7" "Pancreatic duct cells E6E7" "(2R)-2-hydroxy-3-[(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoyloxy]propyl phosphate" "N,N-dimethylguanosine" @@ -105643,10 +105643,10 @@ "iPS NIHi11" "blood serum tripeptidyl-peptidase 1 amount" "neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome" - "reactive cutaneous fibrous lesion" + "diastasis symphysis pubis" "hereditary vesicoureteral reflux (disease)" "familial VUR" - "diastasis symphysis pubis" + "reactive cutaneous fibrous lesion" "thyroid stimulating hormone producing tumour of the pituitary" "TSH producing tumor of the pituitary gland" "TSH secreting tumour of the pituitary" @@ -105958,14 +105958,13 @@ "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" - "Atypical HCS" + "body of uterus primitive neuroectodermal tumor" "gastric (stomach) squamous cell cancer" "stomach squamous cell carcinoma" "gastric squamous cell carcinoma" @@ -105974,6 +105973,7 @@ "CD8-positive, alpha-beta cytokine secreting effector T-lymphocyte" "CD8-positive, alpha-beta cytokine secreting effector T-cell" "CD8-positive, alpha-beta cytokine secreting effector T lymphocyte" + "Atypical HCS" "sarcoma, leptomeningeal, malignant" "leptomeninx sarcoma" "leptomeningeal sarcoma" @@ -105998,6 +105998,11 @@ "mental retardation, autosomal dominant 41" "MRD41" "autosomal dominant mental retardation 41" + "invasive bladder urothelial carcinoma" + "invasive transitional cell carcinoma of the urinary bladder" + "invasive bladder transitional cell carcinoma" + "infiltrating bladder urothelial carcinoma" + "infiltrating transitional cell carcinoma of the urinary bladder" "AML, GF1 Gene Mutation" "AML, ERYF1 Gene Mutation" "AML, GATA Binding Protein 1 Gene Mutation" @@ -106007,11 +106012,6 @@ "AML, GF-1 Gene Mutation" "AML, GATA1 gene mutation" "AML, NF-E1 Gene Mutation" - "invasive bladder urothelial carcinoma" - "invasive transitional cell carcinoma of the urinary bladder" - "invasive bladder transitional cell carcinoma" - "infiltrating bladder urothelial carcinoma" - "infiltrating transitional cell carcinoma of the urinary bladder" "cAIHA" "cAHA" "cold AIHA" @@ -106480,9 +106480,9 @@ "osteopetrosis, autosomal recessive 3, with renal tubular acidosis" "mixed RTA" "autosomal recessive osteopetrosis 3 with renal tubular acidosis" - "blood serum melanoma antigen preferentially expressed in tumors amount" "(2E,4E,6R)-7-[4-(dimethylamino)phenyl]-N-hydroxy-4,6-dimethyl-7-oxohepta-2,4-dienamide" "TRICHOSTATIN A" + "blood serum melanoma antigen preferentially expressed in tumors amount" "corneal dystrophy Groenouw type II" "macular corneal dystrophy" "Fehr corneal dystrophy" @@ -106605,6 +106605,8 @@ "Hypotonia, in neonatal onset" "Low muscle tone, in neonatal onset" "Hypotonia, neonatal" + "vertebral ossification, defect in, with nephrogenic rests" + "diaphanospondylodysostosis" "undifferentiated thyroid tumour" "thyroid gland undifferentiated (anaplastic) carcinoma" "Dedifferentiated thyroid gland carcinoma" @@ -106629,8 +106631,6 @@ "anaplastic thyroid carcinoma" "undifferentiated carcinoma of thyroid" "anaplastic carcinoma of the thyroid gland" - "vertebral ossification, defect in, with nephrogenic rests" - "diaphanospondylodysostosis" "Uncontrollable movement in upper arms" "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1" "MTMR2 Charcot-Marie-Tooth disease type 4" @@ -106798,8 +106798,8 @@ "benign female reproductive system tumour" "benign gynecologic neoplasm" "benign gynecologic tumor" - "Coronary Arteriosclerosis" "Disease, Coronary" + "Coronary Arteriosclerosis" "Diseases, Coronary" "Arterioscleroses, Coronary" "coronary heart disease" @@ -106891,8 +106891,8 @@ "eyeball of camera-type eye tumour" "Cancers, Eye" "eyeball of camera-type eye neoplasm" - "Genetic 46,XY DSD of endocrine origin" "LGMDR27" + "Genetic 46,XY DSD of endocrine origin" "specific developmental disorder" "HCC-78" "blood serum protein Muted amount" @@ -106934,8 +106934,10 @@ "Chlamydia pneumonia" "chlamydial pneumonia" "Chlamydia caused pneumonia" - "TAG 58:10" "viral pericarditis" + "TAG 58:10" + "blood serum actin-related protein 2/3 complex subunit 5 amount" + "blood serum Phosphatidylinositol (18:0_18:2) amount" "Trichuriasis (disorder)" "Trichuriasis infection" "Trichuris trichiura infectious disease" @@ -106950,8 +106952,6 @@ "Trichuris trichiura infection" "Infection by Trichuris trichura" "Trichuriasis" - "blood serum actin-related protein 2/3 complex subunit 5 amount" - "blood serum Phosphatidylinositol (18:0_18:2) amount" "Salt-wasting tubulopathy, Henle's loop type" "Renal tubular normotensive hypokalemic alkalosis with hypercalciuria" "Salt-losing tubular disorder, Henle's loop type" @@ -107030,11 +107030,11 @@ "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" @@ -107107,9 +107107,9 @@ "urea biosynthetic process" "3H-1,2-dithiole-3-thione" "Reticular pigment anomaly of flexures" + "GM17144 cell" "Xylella oleander" "Xylella almond" - "GM17144 cell" "vestibular gland benign neoplasm" "blood serum NEDD8-conjugating enzyme UBE2F amount" "humero-radio-ulnar fusion, unilateral" @@ -107200,9 +107200,9 @@ "Tietz syndrome" "albinism-deafness of Tietz" "thecal cell layers" - "blood serum phospholipid transfer protein amount" "oxygen tension" "PaO2" + "blood serum phospholipid transfer protein amount" "inflammation of larynx" "laryngeal Inflammation" "laryngeal inflammation" @@ -107987,8 +107987,8 @@ "neoplasm of the thorax" "tumour of the thorax" "thoracic neoplasm" - "tumor of thorax" "thoracic segment of trunk tumour" + "tumor of thorax" "thoracic tumour" "Juvenile GM2 gangliosidosis 0 variant" "Hexosaminidases A and B deficiency, juvenile form" @@ -108088,15 +108088,15 @@ "serous adenocarcinoma" "GM17137 cell" "HCC-827" - "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN" - "hypotonia, infantile, with psychomotor retardation and characteristic facies 1" - "NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies" "Burkholderia cepacia genomovar I" "Burkholderia capacia" "Pseudomonas kingii" "Pseudomonas cepacia" "Burgholderia cepacia" "Pseudomonas multivorans" + "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN" + "hypotonia, infantile, with psychomotor retardation and characteristic facies 1" + "NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies" "N-(4-hydroxyphenyl)acetamide" "Paracetamol" "SCASI" @@ -108822,9 +108822,9 @@ "git disease" "Infantum, Cholera" "alimentary system disease" + "Other disorders of intestine (disorder)" "Gastrointestinal Disorder, Functional" "Disease of digestive system" - "Other disorders of intestine (disorder)" "Disorder of digestive system" "Other gallbladder disorders NOS (disorder)" "Disease of digestive system, NOS" @@ -108862,6 +108862,7 @@ "sn-Glycerol 3-phosphate" "sn-glycerol 3-(dihydrogen phosphate)" "(2R)-2,3-dihydroxypropyl dihydrogen phosphate" + "CBC with Diff" "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum" "HSP-TCC" "SPG11 hereditary spastic paraplegia" @@ -108873,7 +108874,6 @@ "hereditary spastic paraplegia type 11" "autosomal recessive spastic paraplegia complicated with thin corpus callosum" "autosomal recessive spastic paraplegia type 11" - "CBC with Diff" "blood serum MIT domain-containing protein 1 amount" "eastern oyster" "Crassotrea virginica" @@ -109224,9 +109224,9 @@ "neck neoplasms (Including All pharyngeal related neoplasms)" "tumour of neck" "tumour of the neck" + "tumor of the neck" "neck neoplasm" "neoplasm of neck" - "tumor of the neck" "neoplasm of the neck" "neck tumour" "neck tumor" @@ -109561,14 +109561,14 @@ "metastatic malignant neoplasm to the colon" "oropharynx anthrax infection" "blood serum killer cell immunoglobulin-like receptor 3DL1 amount" - "expansion sequencing" "rhizodermis" "epiblem" + "expansion sequencing" + "central nervous system benign neoplasm" "DEE61" "epileptic encephalopathy, early infantile, 61" "EIEE61" "developmental and epileptic encephalopathy 61" - "central nervous system benign neoplasm" "blood serum phosphoglucomutase-like protein 5 amount" "Herz" "adult heart" @@ -109644,6 +109644,7 @@ "neurotic anxiety states" "Ichthyosis follicularis - atrichia - photophobia" "IFAP syndrome" + "NPC/HK1" "Cowden syndrome type 1" "Cowden syndrome 1" "PTEN Cowden disease" @@ -109656,11 +109657,10 @@ "infantile liver failure syndrome 1" "infantile liver failure caused by mutation in Lars" "infantile liver failure syndrome type 1" - "CMD1LL" "blood serum BRICHOS domain-containing protein 5 (human) amount" + "CMD1LL" "hyperopia, high" "tgd.vg5+.IEL" - "NPC/HK1" "CDG syndrome type IIh" "CDG2H" "congenital disorder of glycosylation type 2h" @@ -109963,6 +109963,8 @@ "Caffey disease" "cortical congenital hyperostosis" "infantile cortical hyperostosis" + "46,XY partial testicular dysgenesis" + "46,XY PGD" "isolated complex I deficiency" "isolated NADH-ubiquinone reductase deficiency" "NADH coenzyme Q reductase deficiency" @@ -109970,8 +109972,6 @@ "isolated NADH-coenzyme Q reductase deficiency" "complex 1 mitochondrial respiratory chain deficiency" "isolated NADH-CoQ reductase deficiency" - "46,XY partial testicular dysgenesis" - "46,XY PGD" "blood serum transmembrane protein 106A amount" "trisomy 17q12" "chromosome 17q12 duplication syndrome" @@ -110042,12 +110042,12 @@ "atrial appendage" "heart atrial appendage" "cardiac auricle" - "Bacteria skin disease caused by infection" - "Bacteria caused skin disease caused by infection" "Infection by Trypanosoma equiperdum (disorder)" "dourine" "Covering disease" "Dourine" + "Bacteria skin disease caused by infection" + "Bacteria caused skin disease caused by infection" "anterior kidney" "kidney marrow" "Frankia alni strain ACN14a" @@ -110160,9 +110160,9 @@ "Hyperargininemia" "Arginase deficiency" "Zenker's diverticulum" - "blood serum xylosyl- and glucuronyltransferase LARGE1 amount" "Ketone bodies in urine" "Ketonaciduria" + "blood serum xylosyl- and glucuronyltransferase LARGE1 amount" "Petit mal seizures" "Brief seizures with staring spells" "Absence seizures" @@ -110647,14 +110647,14 @@ "Venous tree organ part" "Venous subtree" "venous vessel" + "T+B+ SCID" + "T-cell positive B-cell positive SCID" "tympanic membrane disorder" "disease of tympanic membrane" "disease or disorder of tympanic membrane" "disorder of tympanic membrane" "tympanic membrane disease or disorder" "tympanic membrane disease" - "T+B+ SCID" - "T-cell positive B-cell positive SCID" "Loboa loboi" "Stickler syndrome type 1" "Neisseria gonorrhoeae caused iridocyclitis (disease)" @@ -110874,15 +110874,22 @@ "blood serum mesoderm development candidate 2 amount" "anatomical entity phosphatidylinositol amount" "blood serum phospholipase A and acyltransferase 3 amount" + "Geospiza cornirostris" + "strabismus, susceptibility to" + "GM14478 cell" "Missed heart beat" "Palpitations" "Skipped heart beat" "Heart palpitations" - "Geospiza cornirostris" - "strabismus, susceptibility to" - "GM14478 cell" "Neutrophilic Metamyelocytes" "NEUTMM" + "scleroderma (disease)" + "morphea" + "linear scleroderma" + "localized scleroderma" + "dermatosclerosis" + "scleroderma" + "Morphea \"en coup de sabre\"" "transitional cell carcinoma of ovary" "ovary transitional cell carcinoma" "ovarian transitional cell cancer" @@ -110893,13 +110900,6 @@ "immunodeficiency 79" "IMD79" "congenital absence of toes" - "scleroderma (disease)" - "morphea" - "linear scleroderma" - "localized scleroderma" - "dermatosclerosis" - "scleroderma" - "Morphea \"en coup de sabre\"" "sporadic amyotrophic lateral sclerosis" "benign tumour of ureter" "benign ureter tumour" @@ -110992,12 +110992,12 @@ "helpfulness measurement" "pit and fissure surface dental caries" "dental caries pit and fissure" - "blood serum alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 amount" - "scoliosis" "developmental and epileptic encephalopathy 62" "DEE62" "EIEE62" "epileptic encephalopathy, early infantile, 62" + "blood serum alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 amount" + "scoliosis" "cardiovascular system benign neoplasm" "kidney chromophobe" "chromophobe adenocarcinoma" @@ -111059,8 +111059,6 @@ "ATR-16 syndrome" "ATR syndrome, deletion type" "ATR syndrome linked to chromosome 16" - "Monosomy 9q31.1q31.3" - "Del(9)(q31.1q31.3)" "IgG- class switched memory B-cell" "IgG-negative class switched memory B lymphocyte" "IgG- class switched memory B lymphocyte" @@ -111068,6 +111066,8 @@ "IgG-negative class switched memory B-cell" "IgG- class switched memory B-lymphocyte" "IgG-negative class switched memory B-lymphocyte" + "Monosomy 9q31.1q31.3" + "Del(9)(q31.1q31.3)" "decanedioate" "immature single positive T-lymphocyte" "immature single positive T lymphocyte" @@ -111123,7 +111123,6 @@ "dysgammaglobulinemia (disease)" "dysgammaglobulinemia (finding)" "dysgammaglobulinemia" - "anti-HEV antibody measurement" "cafe-au-lait spots, multiple" "neurofibromatosis type 6" "NF6" @@ -111134,6 +111133,7 @@ "familial café-au-lait spots" "multiple café-au-lait syndrome" "multiple cafe-au-lait spots" + "anti-HEV antibody measurement" "blood serum NudC domain-containing protein 2 amount" "blood serum small ribosomal subunit protein eS19 amount" "Abnormality of serine family amino acid metabolism" @@ -111154,10 +111154,10 @@ "SRTD10" "short-rib thoracic dysplasia 10 with or without polydactyly" "blood serum activator of apoptosis harakiri amount" - "ADA" "Neutrophils Band Form/ Neutrophils" "NEUTBNE" "blood His-Phe amount" + "ADA" "High blood calcium levels" "Hypercalcaemia" "Increased calcium in blood" @@ -111187,8 +111187,8 @@ "blood serum EH domain-containing protein 2 amount" "Cellular Infiltration" "blood serum Sterol ester (27:1/16:1) amount" - "snowflake vitreoretinal degeneration" "AOA1" + "snowflake vitreoretinal degeneration" "non-proliferative fibrocystic change of breast" "non-proliferative fibrocystic change" "breast fibrocystic change, non-proliferative type" @@ -111224,6 +111224,7 @@ "arylsulfatase B" "N-acetylgalactosamine-4-sulphatase activity" "blood serum nucleosome assembly protein 1-like 2 amount" + "Salti-Salem syndrome" "Dracunculus medinensis disease or disorder" "dracontiasis" "Dracontiasis" @@ -111238,7 +111239,6 @@ "infection by Dracunculus medinensis" "Dracunculiasis" "medinensis" - "Salti-Salem syndrome" "poikiloderma-alopecia-retrognathism-cleft palate syndrome" "PARC syndrome" "blood serum glutamate receptor ionotropic, kainate 2 amount" @@ -111642,9 +111642,9 @@ "vascular tissue tumor" "tumour of vascular tissue" "tumor of vascular tissue" + "vascular system tumor" "vascular system neoplasm" "tumors, vascular" - "vascular system tumor" "vascular neoplasm" "vascular tissue neoplasm" "acheiropodia" @@ -111669,9 +111669,9 @@ "blood IL-12B amount" "phosphatidylcholine O-44:4" "Kleefstra syndrome 2" - "(2S)-2,3,3-trideuterio-2-(dideuterioamino)-3-(2,3,4-trideuteriophenyl)propanoic acid" "syndromic urogenital tract malformation" "syndrome associated with urogenital tract malformation" + "(2S)-2,3,3-trideuterio-2-(dideuterioamino)-3-(2,3,4-trideuteriophenyl)propanoic acid" "CFND" "Craniofrontonasal syndrome" "CFNS" @@ -111717,8 +111717,8 @@ "TruSeq RNA" "blood serum secretoglobin family 1D member 1 amount" "acute kidney tubular necrosis" - "acute tubule necrosis" "acute renal failure with lesion of tubular necrosis" + "acute tubule necrosis" "ATN - acute tubular necrosis" "acute renal Failure with tubular necrosis" "acute renal failure with tubular necrosis" @@ -112092,12 +112092,12 @@ "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 tumour of the extragonadal non-seminomatous germ cell" "malignant extragonadal non-seminomatous germ cell tumour" "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" "PAE" "severe acute respiratory syndrome coronavirus 2 infectious disease" @@ -112433,9 +112433,6 @@ "malignant neoplasm of the nervous system" "malignant neoplasm of nervous system" "anatomical entity sphingomyelin amount" - "scleroderma/polimyositis overlap" - "scleromyositis" - "polymyositis in scleroderma" "NPHP3" "nephronophthisis 3" "NPHP3 nephronophthisis (disease)" @@ -112453,6 +112450,9 @@ "sulfide:quinone oxidoreductase deficiency" "Rickettsia prowazekii strain Rp22" "Rickettsia prowazekii str. Rp22" + "scleroderma/polimyositis overlap" + "scleromyositis" + "polymyositis in scleroderma" "ureter leiomyoma" "leiomyoma of the ureter" "ureteral leiomyoma" @@ -112668,20 +112668,20 @@ "endocardium disease or disorder" "blood serum meteorin-like protein amount" "EN-RAGE" + "Ovalocytes" + "OVALCY" "spleen prolymphocytic leukemia" "prolymphocytic leukemia of spleen" "spleen prolymphocytic leukaemia" "prolymphocytic leukaemia of spleen" "splenic manifestation of prolymphocytic leukemia" - "Ovalocytes" - "OVALCY" + "Low blood albumin" + "Hypoalbuminaemia" "Homogentisic acid" "(2,5-dihydroxyphenyl)acetic acid" "Stevens-Johnson syndrome" "Dermatostomatitis, Stevens Johnson type" "Stevens Johnson syndrome" - "Low blood albumin" - "Hypoalbuminaemia" "melanoma of the ciliary body" "melanoma (disease) of ciliary body" "ciliary body malignant melanoma" @@ -112851,12 +112851,12 @@ "Syndrome, Treacher Collins" "Dysostosis, Mandibulofacial" "Mandibulofacial Dysostosis" - "blood serum creatine kinase U-type, mitochondrial amount" "Decreased weight" "Weight less than 3rd percentile" "Low weight" "Low body weight" "Decreased body weight" + "blood serum creatine kinase U-type, mitochondrial amount" "blood serum nucleoside diphosphate kinase, mitochondrial amount" "estrogen receptor positive breast cancer" "ER+ breast cancer" @@ -113074,9 +113074,9 @@ "Sarcina barkeri" "Methanosarcina barkerii" "reference_design" - "Chronic HPV infection" "blood serum protein FAM162A amount" "blood serum BPI fold-containing family A member 2 amount" + "Chronic HPV infection" "H23" "Del(8)(q21.11)" "Monosomy 8q21.11" @@ -114380,10 +114380,10 @@ "Methanosarcina mazeii" "Methanosarcina frisia" "Methanococcus frisius" - "erythroplakia" "ethnic group" "Currarino syndrome" "Currarino triad" + "erythroplakia" "GM17799 cell" "CLU measurement" "apolipoprotein J measurement" @@ -114499,11 +114499,11 @@ "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" @@ -114548,7 +114548,6 @@ "autosomal dominant distal hereditary motor neuropathy" "autosomal dominant dHMN" "spermatogenic failure 25" - "Synspondylism" "pulmonary blastoma" "Pneumoblastoma" "blastoma of lung" @@ -114557,6 +114556,7 @@ "2-hydroxy-3-methylbutanoate" "2-Hydroxy-3-methylbutyrate" "blood serum interleukin-1 alpha amount" + "Synspondylism" "blood Thr-Phe amount" "AML, Monosomy 5" "Müllerian duct failure" @@ -114787,13 +114787,13 @@ "pyropoikilocytosis" "pyropoikilocytosis, hereditary" "Alport deafness-nephropathy" + "adenoid cystic carcinoma of submandibular gland" + "adenoid cystic carcinoma of the submandibular gland" + "submandibular gland adenoid cystic carcinoma" "RP93" "retinitis pigmentosa 93" "field mustard" "Brassica rapa L." - "adenoid cystic carcinoma of submandibular gland" - "adenoid cystic carcinoma of the submandibular gland" - "submandibular gland adenoid cystic carcinoma" "ovarian clear cell malignant adenofibroma" "ovarian clear cell adenocarcinofibroma" "blood serum proteasome subunit alpha type-3 amount" @@ -114896,8 +114896,8 @@ "trophoblast tumour" "trophoblastic tumour" "neoplasm of trophoblast" - "tumor of trophoblast" "trophoblastic neoplasms" + "tumor of trophoblast" "trophoblastic tumor (qualifier value)" "trophoblastic tumor" "trophoblast neoplasm" @@ -114988,8 +114988,8 @@ "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" @@ -115338,13 +115338,13 @@ "caecum disease or disorder" "disorder of caecum" "disease or disorder of caecum" - "SPG43" "vitamin B12-unresponsive methylmalonic aciduria" "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency" "methylmalonic aciduria mut type" "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency" "methylmalonyl-CoA mutase deficiency" "methylmalonyl-Coenzyme A mutase deficiency" + "SPG43" "Low-set posteriorly rotated ears" "GM17120 cell" "response to clarithromycin trait" @@ -115364,8 +115364,8 @@ "Salmonella choleraesuis serovar Choleraesuis" "Salmonella choleraesuis choleraesuis" "periaqueductal gray matter" - "midbrain periaqueductal grey" "central (periaqueductal) gray" + "midbrain periaqueductal grey" "periaqueductal gray" "periaqueductal grey" "periaqueductal grey matter" @@ -115991,9 +115991,6 @@ "mucinous neoplasm" "mucinous tumour" "mucinous tumor" - "horizontal myoseptum" - "GRO:0005441" - "pistil" "arrhythmogenic right ventricular dysplasia type 5" "TMEM43 arrhythmogenic right ventricular cardiomyopathy" "arrhythmogenic right ventricular dysplasia, familial, type 5" @@ -116003,6 +116000,9 @@ "familial arrhythmogenic right ventricular dysplasia 5" "ARVC5" "arrhythmogenic right ventricular cardiomyopathy 5" + "horizontal myoseptum" + "GRO:0005441" + "pistil" "blood serum B melanoma antigen 2 amount" "Alpha thalassemia-intellectual disability syndrome, deletion type" "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16" @@ -116142,11 +116142,11 @@ "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" @@ -116641,11 +116641,11 @@ "Hyperpituitarism" "blood serum N-myc-interactor amount" "epilepsy due to FCD" + "NK.49Cl-94-.Sp" + "CD94- Ly49I-negative NK cell" "erythema palmare hereditarium" "Red palms disease" "lane disease" - "NK.49Cl-94-.Sp" - "CD94- Ly49I-negative NK cell" "stria vascularis of cochlea" "stria vascularis" "vascular stripe of cochlear duct" @@ -117176,9 +117176,9 @@ "Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" "blood serum transcription factor MafG amount" "blood serum ephrin type-A receptor 8 amount" + "protoporphyria, erythropoietic, 2" "coagulation factor deficiency syndrome" "coagulation factor deficiency" - "protoporphyria, erythropoietic, 2" "hemopoietic system cell line" "wine grape" "Vitis vinifera subsp. vinifera" @@ -117256,11 +117256,11 @@ "serous cystadenocarcinoma" "(9Z)-octadec-9-enamide" "blood serum kelch-like protein 41 amount" + "Lassa virus strain Josiah" + "Lassa virus (strain Josiah)" "FH3" "familial hyperaldosteronism type 3" "FH-III" - "Lassa virus strain Josiah" - "Lassa virus (strain Josiah)" "blood serum adhesion G protein-coupled receptor B2 amount" "Boucher-Neuhauser syndrome" "spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy" @@ -117475,12 +117475,12 @@ "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" @@ -117505,13 +117505,13 @@ "glucocorticoid therapy, response to" "Delta granule disease" "secondary hypertension" - "Lowry syndrome" "disorder of aortic valve" "aortic valve disease or disorder" "aortic valve disorder" "disease of aortic valve" "aortic valve disease" "disease or disorder of aortic valve" + "Lowry syndrome" "Kimura's disorder" "Kimura disease" "eosinophilic lymphogranuloma" @@ -117657,9 +117657,9 @@ "OTHER PSORIASIS" "Other psoriasis and similar disorders" "PITYRIASIS NEC & NOS" - "varicella, severe recurrent" "constitutional sideroblastic anaemia" "constitutional sideroblastic anemia" + "varicella, severe recurrent" "L-serine formation" "L-serine anabolism" "L-serine biosynthesis" @@ -117979,10 +117979,10 @@ "peripheral neuroectodermal tumor" "pPNET" "blood serum MAM domain-containing protein 2 amount" + "congenital muscular dystrophy producing arthrogryposis" "hypersensitivity vasculitis" "leukocytoclastic vasculitis" "Vasculitis, Leukocytoclastic, Cutaneous" - "congenital muscular dystrophy producing arthrogryposis" "IMD33" "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency" "immunodeficiency 33, X-linked recessive" @@ -118207,8 +118207,8 @@ "blood serum regulation of nuclear pre-mRNA domain-containing protein 1B amount" "metastasis to lymph node" "Metastases to lymph nodes" - "metastatic neoplasm to the lymph node" "metastatic malignant neoplasm to the lymph nodes" + "metastatic neoplasm to the lymph node" "metastatic tumor to lymph node" "metastatic malignant neoplasm in the lymph nodes" "metastatic tumour to lymph node" @@ -118583,6 +118583,7 @@ "mixed germ cell-Sex cord-stromal tumor" "mixed germ cell-sex cord-stromal tumour (morphologic abnormality)" "blood serum nociceptin amount" + "Reardon-Hall-Slaney syndrome" "Abnormal liver function tests" "High liver enzymes" "Abnormal liver enzymes" @@ -118596,7 +118597,6 @@ "Elevated transaminases" "Raised liver enzymes" "Elevated circulating hepatic transaminase activity" - "Reardon-Hall-Slaney syndrome" "benign tumor of retina" "benign retinal tumour" "benign tumour of retina" @@ -118744,10 +118744,10 @@ "Itchy skin" "Itching" "Skin itching" + "Tetralogy of Fallot with absent pulmonary valve syndrome" "Bm5 B-lymphocyte" "Bm5 B-cell" "Bm5 B lymphocyte" - "Tetralogy of Fallot with absent pulmonary valve syndrome" "blood serum putative protein-lysine deacylase ABHD14B amount" "GEXSCOPE" "synovial sarcoma, biphasic" @@ -119381,6 +119381,7 @@ "sialolithiasis" "Salivary Gland Calculi" "Stone of salivary gland or duct" + "GM17803 cell" "Linear IgA IgG Dermatosis" "linear IgA Dermatosis" "Linear IgA bullous dermatosis" @@ -119388,7 +119389,6 @@ "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" @@ -119751,13 +119751,13 @@ "LHON plus disease" "blood serum amyloid beta precursor like protein 2 amount" "benzenemethanesulfonyl fluoride" + "congenital mitral regurgitation" "congenital insufficiency of mitral valve" "congenital mitral insufficiency" "mitral valve incompetence" "mitral insufficiency" "insufficiency, mitral" "mitral regurgitation" - "congenital mitral regurgitation" "blood serum melanoma-associated antigen 10 amount" "F7 deficiency" "deficiency, stable" @@ -119862,6 +119862,13 @@ "odontogenic tumor" "calcareous tooth tumor" "calcareous tooth neoplasm (disease)" + "blood serum patatin-like phospholipase domain-containing protein 2 amount" + "Semilunar ganglion" + "Gasser's ganglion" + "ganglion of trigeminal nerve" + "gV" + "ganglion trigeminale" + "gasserian ganglion" "malignant muscle tumour" "muscle structure cancer" "malignant muscle structure neoplasm" @@ -119877,13 +119884,6 @@ "muscle cancer" "malignant tumour of muscle" "malignant muscle tumor" - "blood serum patatin-like phospholipase domain-containing protein 2 amount" - "Semilunar ganglion" - "Gasser's ganglion" - "ganglion of trigeminal nerve" - "gV" - "ganglion trigeminale" - "gasserian ganglion" "FS2" "FGLDS2" "Microcephaly-digital anomalies-normal intelligence syndrome type 2" @@ -119997,12 +119997,12 @@ "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" @@ -120076,8 +120076,8 @@ "glycosylated Haemoglobin A level" "Glycosylated Hemoglobin Measurement" "Glycosylated Hemoglobin" - "A1C measurement" "Hemoglobin A1C" + "A1C measurement" "HBA1C" "disorder of bilirubin metabolism and excretion" "inborn disorder of bilirubin metabolism and excretion" @@ -120100,10 +120100,10 @@ "otolaryngologic disorder" "ear, nose or throat disorder" "blood serum voltage-gated potassium channel subunit beta-3 amount" - "blood serum brain-specific angiogenesis inhibitor 1-associated protein 2 amount" "lichen disease" "lichen" "lichen sclerosus" + "blood serum brain-specific angiogenesis inhibitor 1-associated protein 2 amount" "blood serum PDZ domain-containing protein GIPC1 amount" "ovary mucinous adenofibroma" "ovarian mucinous adenofibroma" @@ -120444,8 +120444,8 @@ "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" @@ -120590,12 +120590,12 @@ "purine-nucleoside phosphorylase deficiency" "vascular insufficiency" "ATRUS syndrome" - "Syndromic microphthalmia type 10" - "MCOPS10" - "MOBA syndrome" "hepatic perisinusoidal cell" "Ito cell" "perisinusoidal cell" + "Syndromic microphthalmia type 10" + "MCOPS10" + "MOBA syndrome" "Streptomyces venezuelensis" "GM17794 cell" "gastroenteritis" @@ -120686,6 +120686,8 @@ "hypospadias-hypertelorism syndrome" "Opitz G/BBB syndrome" "hypospadias-dysphagia syndrome" + "genomic copy number assessment" + "copy number variation analysis" "Stickler syndrome caused by mutation in COL11A2" "Pierre Robin syndrome with foetal chondrodysplasia" "WZS" @@ -120711,8 +120713,6 @@ "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type" "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type" "STL3" - "genomic copy number assessment" - "copy number variation analysis" "hyperlipoproteinemia" "C4b-binding protein measurement" "C4b binding protein levels" @@ -120751,6 +120751,13 @@ "retinal arterial tortuosity" "mixed oligodendroglial and astrocytic tumor" "mixed oligodendroglial and astrocytic tumour" + "AOSD" + "Still's Disease, Adult-Onset" + "Wissler-Fanconi syndrome" + "adult-onset Still's disease" + "adult onset Still's disease" + "Adult-Onset Still's Disease" + "adult-onset Still disease" "autosomal recessive mental retardation" "autosomal recessive non-syndromic intellectual disability" "autosomal recessive non-syndromic mental retardation" @@ -120760,13 +120767,6 @@ "mental retardation, autosomal recessive" "autosomal recessive intellectual disability" "intellectual disability, autosomal recessive" - "AOSD" - "Still's Disease, Adult-Onset" - "Wissler-Fanconi syndrome" - "adult-onset Still's disease" - "adult onset Still's disease" - "Adult-Onset Still's Disease" - "adult-onset Still disease" "blood serum WAP four-disulfide core domain protein 3 amount" "Sveinsson chorioretinal atrophy" "SCRA" @@ -120997,7 +120997,6 @@ "Early infantile epileptic encephalopathy with suppression-bursts" "Ohtahara syndrome" "blood serum oxidized purine nucleoside triphosphate hydrolase amount" - "Prieto-Badia-Mulas syndrome" "neoplasm of trochlear nerve" "neoplasm of the trochlear nerve" "fourth cranial nerve neoplasm" @@ -121025,6 +121024,7 @@ "tumour of trochlear nerve" "fourth cranial nerve tumours" "trochlear nerve neoplasms" + "Prieto-Badia-Mulas syndrome" "Transitional PMD" "renal tubule disease" "renal tubular disorder" @@ -121040,8 +121040,8 @@ "epithelial tissue of lung" "right cranial lobe of lung" "right upper lobe" - "upper lobe of right lung" "lobus superior (pulmo dexter)" + "upper lobe of right lung" "superior lobe of right lung" "right lung cranial lobe" "lobus superior pulmonis dextri" @@ -121152,8 +121152,8 @@ "GSD due to muscle and heart glycogen synthase deficiency" "glycogenosis type 0b" "heart glycogen storage disease due to glycogen synthase deficiency" - "Skeletal dysplasia with wormian bone - multiple fractures - dentin abnormality" "blood serum transcriptional regulator Kaiso amount" + "Skeletal dysplasia with wormian bone - multiple fractures - dentin abnormality" "Congenital chronic diarrhea with exudative enteropathy" "Hageman factor deficiency" "Factor XII deficiency" @@ -121488,11 +121488,11 @@ "GM17148 cell" "X-linked intellectual disability - dystonia - dysarthria" "Partington-Mulley syndrome" - "gene deletion screening" - "gene deletion screen" "RDH5 retinopathy" "level of Cer(d40:2) in blood serum" "blood serum Cer(d40:2) amount" + "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" @@ -122764,8 +122764,8 @@ "DCMD" "Familial macular edema" "Autosomal dominant cystoid macular edema" - "wash_station" "nabothian cyst" + "wash_station" "N-acetylaspartate deficiency" "Monosomy 11qter" "Jacobsen Distal 11q Deletion Syndrome" @@ -123369,11 +123369,11 @@ "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" @@ -123537,6 +123537,8 @@ "3-(carbamoylamino)propanoic acid" "N-Carbamoyl-beta-alanine" "N-carbamoyl-beta-alanine" + "neuromuscular disease" + "nerve and muscle disorder" "syndromic microphthalmia type 7" "linear skin defects with multiple congenital anomalies" "MCOPS7" @@ -123545,8 +123547,6 @@ "microphthalmia with linear skin defects syndrome" "MIDAS syndrome" "linear skin defects with multiple congenital anomalies type 1" - "neuromuscular disease" - "nerve and muscle disorder" "Mental Deficiency" "Disability, Intellectual" "Intellectual Disability" @@ -123959,7 +123959,6 @@ "blood serum cartilage intermediate layer protein 1 amount" "RCB2630" "hypoparathyroidism" - "benign tracheal neoplasm" "benign tracheal tumor" "benign neoplasm of the trachea" "benign tracheal tumour" @@ -123971,6 +123970,7 @@ "benign trachea tumor" "benign tumor of trachea" "benign tumor of the trachea" + "benign tracheal neoplasm" "struma ovarii" "struma ovarii (morphologic abnormality)" "struma ovarii NOS (morphologic abnormality)" @@ -124223,8 +124223,8 @@ "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" @@ -124371,11 +124371,11 @@ "oculomotor apraxia, Cogan type" "Pyknodysostosis" "pycnodysostosis" - "noncardia gastric carcinoma" - "non-cardia gastric carcinoma" "periodic limb movement disorder" "nocturnal myoclonus" "Nocturnal Myoclonus Syndrome" + "noncardia gastric carcinoma" + "non-cardia gastric carcinoma" "Mseleni joint disease" "Webbed toes" "Fused toes" @@ -124433,12 +124433,12 @@ "lymph vessel" "Acute liver failure" "blood serum Phosphatidylcholine (O-18:1_20:3) amount" + "spinocerebellar ataxia type 31" + "SCA31" "Mucopolysaccharidosis type 1H" "Mucopolysaccharidosis type IH" "Hurler disease" "MPS1H" - "spinocerebellar ataxia type 31" - "SCA31" "isolated trigonocephaly caused by mutation in FGFR1" "trigonocephaly type 1" "trigonocephaly 1" @@ -124722,6 +124722,7 @@ "HL60 cell" "HL60" "HL-60 cell" + "Nonepidermolytic palmoplantar keratoderma" "Sneddon Syndrome" "Ehrmann-Sneddon syndrome" "idiopathic livedo reticularis with systemic involvement" @@ -124729,7 +124730,6 @@ "livedo reticularis-cerebrovascular accident syndrome" "Sneddon syndrome" "livedo racemosa-cerebrovascular accident syndrome" - "Nonepidermolytic palmoplantar keratoderma" "overhydrated hereditary stomatocytosis" "Paramecium aurelia syngen 4" "IDI" @@ -124951,9 +124951,9 @@ "carcinoma ex pleomorphic adenoma of the lacrimal gland" "lacrimal gland malignant mixed tumor" "lacrimal gland carcinoma ex pleomorphic adenoma" - "malignant mixed tumour of lacrimal gland" "malignant mixed neoplasm of lacrimal gland" "carcinoma ex pleomorphic adenoma of lacrimal gland" + "malignant mixed tumour of lacrimal gland" "dermatophytosis of manus" "manus dermatophytosis" "Tinea manus" @@ -124968,13 +124968,13 @@ "X-linked ataxia-dementia syndrome" "spinocerebellar ataxia, X-linked type 4" "SCAX4" + "GM2-gangliosidosis, B, B1 variant" + "Hexosaminidase A deficiency" "Seckel syndrome type 8" "DNA2 Seckel syndrome" "Seckel syndrome 8" "SCKL8" "Seckel syndrome caused by mutation in DNA2" - "GM2-gangliosidosis, B, B1 variant" - "Hexosaminidase A deficiency" "distal HMN V" "distal hereditary motor neuropathy type V" "distal spinal muscular atrophy type 5" @@ -125460,10 +125460,10 @@ "Ehlers-Danlos syndrome, vascular type, autosomal dominant" "autosomal dominant Ehlers-Danlos syndrome, vascular type" "Ehlers-Danlos syndrome, type IV, autosomal dominant" - "blood serum protein rogdi amount" "Del(19)(q13.11)" "19q13.11 microdeletion syndrome" "monosomy 19q13.11" + "blood serum protein rogdi amount" "trichogenic trichoblastoma" "trichoepithelioma, benign" "trichoblastoma" @@ -125508,6 +125508,7 @@ "childhood leukemia" "LPC 18:1" "(5alpha)-17-oxoandrostan-3alpha-yl hydrogen sulfate" + "blood serum sarcospan amount" "oculodentodigital dysplasia" "oculo-dento-digital dysplasia" "Meyer-Schwickerath syndrome" @@ -125515,7 +125516,6 @@ "Oculo-Dento-Digital Dysplasia" "odd syndrome" "ODDD syndrome" - "blood serum sarcospan amount" "myoepithelial carcinoma" "myoepithelioma, malignant" "malignant myoepithelioma" @@ -125774,9 +125774,9 @@ "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" @@ -126040,8 +126040,6 @@ "HSCR" "Hirschsprung disease susceptibility" "DAG 34:1" - "Haemophilus influenzae strain R2866" - "Haemophilus influenzae str. R2866" "somatostatin cell tumor" "somatostatinoma" "somatostatin-producing tumor" @@ -126059,6 +126057,8 @@ "tumor of Delta cells" "somatostatin-producing tumour" "tumour of the Delta cells" + "Haemophilus influenzae strain R2866" + "Haemophilus influenzae str. R2866" "ABCD syndrome" "albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness" "meningioma, malignant" @@ -126373,14 +126373,14 @@ "lateral line ganglia" "LLG" "establishment of localisation in cell" - "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" + "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" "Human respiratory syncytial virus (subgroup A / strain Long)" "hereditary thymoma (disease)" "thymoma, familial" @@ -126408,6 +126408,7 @@ "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)" @@ -126429,7 +126430,6 @@ "pulmonary hyaline membrane disease" "respiratory distress syndrome in the newborn" "Neonatal respiratory Distress syndrome" - "classic 21-OHD CAH, simple virilizing form" "blood serum protein phosphatase 1 regulatory subunit 1A amount" "elevated Platelet count" "Thrombocythaemia" @@ -126598,6 +126598,8 @@ "blood serum fibrinogen C domain-containing protein 1 amount" "Methylmalonic aciduria with homocystinuria" "Combined defect in adenosylcobalamin and methylcobalamin synthesis" + "Twenty-nail dystrophy" + "Onychodystrophy totalis" "lacrimal apparatus disorder" "lacrimal apparatus disease" "disease of lacrimal apparatus" @@ -126607,13 +126609,11 @@ "disease or disorder of lacrimal apparatus" "lacrimal system disorder" "lacrimal apparatus disease or disorder" - "Twenty-nail dystrophy" - "Onychodystrophy totalis" - "blood serum zona pellucida sperm-binding protein 4 amount" "subdural abscess" "subdural empyema" "Empyema, Subdural" "Subdural abscess (disorder)" + "blood serum zona pellucida sperm-binding protein 4 amount" "LGMD2N" "MDDGC2" "LGMD-POMT2 related" @@ -126763,10 +126763,10 @@ "uterus benign neoplasm" "benign tumor of uterus" "benign tumour of the uterus" + "blood serum Sterol ester (27:1/14:0) amount" "lacrimal gland adenoid cystic carcinoma" "adenoid cystic carcinoma of the lacrimal gland" "adenoid cystic carcinoma of lacrimal gland" - "blood serum Sterol ester (27:1/14:0) amount" "blood serum cilia- and flagella-associated protein 298 (human) amount" "hereditary defective mismatch repair syndrome" "Hereditary colorectal endometrial cancer syndrome" @@ -126888,8 +126888,8 @@ "tetrachloromethane" "3-(10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethylpropan-1-amine" "Imipramine" - "Albumin/Globulin" "ALBGLOB" + "Albumin/Globulin" "Albumin to Globulin Ratio Measurement" "albumin-globulin ratio measurement" "Absent muscle fibre dysferlin" @@ -127202,8 +127202,8 @@ "Isolated succinate-coenzyme Q reductase deficiency" "Isolated mitochondrial respiratory chain complex II deficiency" "Isolated succinate-ubiquinone reductase deficiency" - "schizencephaly" "Infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness" + "schizencephaly" "Campylobacter jejuni subsp. jejuni strain NCTC 11168" "Campylobacter jejuni subsp. jejuni str. NCTC 11168" "(E,2S,3R,4R,5S,14R)-2-amino-3,4,5,14-tetrahydroxyicos-6-enoic acid" @@ -127892,10 +127892,6 @@ "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" @@ -127904,6 +127900,10 @@ "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" @@ -128273,7 +128273,6 @@ "SER" "blood serum tyrosine-protein kinase transmembrane receptor ROR1 amount" "GM15216 cell" - "LDL triglyceride measurement" "1q41q42 microdeletion syndrome" "monosomy 1q41-q42" "Del(1)(q41q42)" @@ -128281,6 +128280,7 @@ "chromosome 1q41-q42 deletion syndrome" "monosomy 1q41q42" "chromosome 1q41-q42 deletion syndrome, isolated cases" + "LDL triglyceride measurement" "Mimi" "Acanthomoeba polyphaga mimivirus" "musculus deltoideus" @@ -128493,9 +128493,9 @@ "VODI syndrome" "rac--(R)-[2,8-bis(trifluoromethyl)quinolin-4-yl][(2S)-piperidin-2-yl]methanol" "full length cDNA sequencing" + "amino acid permease activity" "Boyes Arabidopsis Growth Stage 0.5" "BBCH growth stage 05" - "amino acid permease activity" "Electroencephalogram abnormal" "Abnormal EEG" "Electroencephalogram abnormalities" @@ -128854,9 +128854,9 @@ "benign testicular tumor" "testis benign neoplasm" "benign tumor of testis" - "benign tumour of the testis" "benign tumour of testis" "benign tumor of the testis" + "benign tumour of the testis" "benign testicular tumour" "benign neoplasm of the testis" "benign testicular neoplasm" @@ -129438,12 +129438,12 @@ "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" @@ -129660,8 +129660,8 @@ "vulval neoplasm" "mammalian vulva tumour" "mammalian vulva neoplasm (disease)" - "neoplasm of mammalian vulva" "vulvar neoplasm" + "neoplasm of mammalian vulva" "tumor of the vulva" "tumour of the vulva" "tumour of mammalian vulva" @@ -130411,8 +130411,8 @@ "Deficiencies, Folic Acid" "Acid Deficiencies, Folic" "mucosa of organ of epiglottis" - "mucous membrane of epiglottis" "organ mucosa of epiglottis" + "mucous membrane of epiglottis" "epiglottis mucous membrane" "epiglottis mucosa" "epiglottis organ mucosa" @@ -130810,8 +130810,8 @@ "amygdaloid complex" "archistriatum" "X-linked cerebral adrenoleukodystrophy" - "Kawashima-Tsuji syndrome" "blood serum nuclear inhibitor of protein phosphatase 1 amount" + "Kawashima-Tsuji syndrome" "Diagnostic Findings" "Signs and Symptoms" "DESC" @@ -131265,8 +131265,8 @@ "disease of adrenal gland" "adrenal gland disease" "adrenal gland disease or disorder" - "adrenal gland diseases" "adrenal gland disorder" + "adrenal gland diseases" "adrenal gland disorders" "Gastrointestinal obstruction" "GI obstruction" @@ -131401,8 +131401,8 @@ "mediastinum neoplasm" "tumor of mediastinum" "mediastinum tumour" - "mediastinum neoplasm (disease)" "mediastinal tumour" + "mediastinum neoplasm (disease)" "refractory plasma cell neoplasm" "thymus mucoepidermoid carcinoma" "mucoepidermoid carcinoma of the Thymus" @@ -132170,9 +132170,9 @@ "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" @@ -132332,9 +132332,9 @@ "KS IMM cell" "KSIMM cell" "KS-IMM cell" - "Koussef-Nichols syndrome" "SPG21" "Mast syndrome" + "Koussef-Nichols syndrome" "cervical large cell neuroendocrine carcinoma" "hyperchlorhidrosis, isolated" "isolated hyperchlorhidrosis" @@ -133031,10 +133031,10 @@ "Bronchiolitis exudativa" "Obliterative bronchiolitis" "constrictive bronchiolitis" - "Chondrodysplasia, Grebe type" "sympathetic chain" "sympathetic part of autonomic division of nervous system" "PNS - sympathetic" + "Chondrodysplasia, Grebe type" "non-steroid anti-inflammatory drug use measurement" "inborn error of glycerol metabolic process" "rare inborn error of glycerol metabolic process" @@ -133181,13 +133181,13 @@ "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" @@ -133465,6 +133465,11 @@ "Facial puffiness" "Facial oedema" "Facial swelling" + "cementation hyperplasia" + "hypercementosis (disorder)" + "Hypercementosis" + "Cementation hyperplasia" + "hypercementosis" "Leyden-Moebius muscular dystrophy" "CAPN3 autosomal recessive limb-girdle muscular dystrophy" "autosomal recessive limb-girdle muscular dystrophy type 2A" @@ -133480,11 +133485,6 @@ "platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency" "PLA2G4A-related platelet dysfunction" "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder" - "cementation hyperplasia" - "hypercementosis (disorder)" - "Hypercementosis" - "Cementation hyperplasia" - "hypercementosis" "cutaneous papilloma" "skin papilloma" "zone of skin papilloma" @@ -133810,8 +133810,8 @@ "PFHB" "(10E,12Z)-octadeca-10,12-dienoic acid" "CDC Enteric Group 10" - "DNA sequencing" "Cholestasis, Intrahepatic, of Pregnancy type 3" + "DNA sequencing" "response to phenytoin trait" "nonadecafluorodecanoic acid" "perfluorodecanoic acid" @@ -133868,9 +133868,9 @@ "pleuritis" "pleurisy" "pleura inflammation" + "establishment of localisation" "SpecificallyDependentContinuant" "specifically dependent continuant" - "establishment of localisation" "Gaucher disease, subacute neuronopathic type" "Chronic neuronopathic Gaucher disease" "Cerebral juvenile and adult form of Gaucher disease" @@ -134028,6 +134028,7 @@ "FHONDA syndrome" "erythrocyte sedimentation" "erythrocyte sedimentation rate" + "blood serum centrin-2 amount" "Frey syndrome" "gustatory hyperhidrosis" "Gustatory hyperhidrosis (disorder)" @@ -134036,7 +134037,6 @@ "gustatory sweating" "Baillarger Syndrome" "Gustatory sweating (finding)" - "blood serum centrin-2 amount" "blood serum E3 ubiquitin-protein ligase NEURL1 amount" "blood serum sorting nexin-3 amount" "major vestibular gland disease" @@ -134614,12 +134614,12 @@ "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" @@ -134802,13 +134802,13 @@ "apical ectodermal ridge pectoral fin" "ventral spinal artery" "anterior medial spinal artery" - "ACTA1 disease" - "alpha-actinopathy" - "alpha actinopathy" "Hereditary renal amyloidosis due to apolipoprotein AI variant" "Hereditary amyloid nephropathy due to apolipoprotein AI variant" "Familial amyloid nephropathy due to apolipoprotein AI variant" "Apolipoprotein AI amyloidosis" + "ACTA1 disease" + "alpha-actinopathy" + "alpha actinopathy" "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome" "MICPCH" "intellectual disability and microcephaly with pontine and cerebellar hypoplasia" @@ -135221,6 +135221,9 @@ "archaea" "(2S)-2-amino-5-{[(1S)-1-carboxy-2-methylpropyl]amino}-5-oxopentanoic acid" "L-gamma-glutamyl-L-valine" + "Aglossia - adactylia" + "Hanhart syndrome" + "Jussieu syndrome" "Man5GlcNAc2-PP-Dol flippase deficiency" "CDG-In" "CDG1N" @@ -135228,9 +135231,6 @@ "CDG syndrome type In" "Congenital disorder of glycosylation type 1n" "Congenital disorder of glycosylation type In" - "Aglossia - adactylia" - "Hanhart syndrome" - "Jussieu syndrome" "TTN-related myopathy, autosomal dominant" "Low ALP" "Decreased serum alkaline phosphatase" @@ -136686,8 +136686,8 @@ "bladder flat CIS" "basal cell carcinoma of the vulva" "mammalian vulva skin basal cell carcinoma" - "skin basal cell carcinoma of mammalian vulva" "vulvar basal cell cancer" + "skin basal cell carcinoma of mammalian vulva" "basal cell carcinoma of vulva" "vulvar basal cell carcinoma" "acinar cell adenoma" @@ -136827,6 +136827,11 @@ "adult pure red-cell aplasia" "response to radiation stimulus" "response to electromagnetic radiation stimulus" + "Fungal meningitis (disorder)" + "Meningitis, Fungal" + "Fungi infectious meningitis" + "fungal meningitis" + "Fungi caused infectious meningitis" "renal pelvis papillary carcinoma" "papillary carcinoma of the renal pelvis" "kidney pelvis papillary carcinoma" @@ -136834,11 +136839,6 @@ "renal pelvis papillary urothelial carcinoma" "papillary carcinoma of kidney pelvis" "papillary carcinoma of renal pelvis" - "Fungal meningitis (disorder)" - "Meningitis, Fungal" - "Fungi infectious meningitis" - "fungal meningitis" - "Fungi caused infectious meningitis" "(1S,3E,6S)-1,2:5,6-dianhydro-3,4-dideoxy-1-[(1R)-1-hydroxyethyl]-6-[(1R)-1-hydroxyprop-2-en-1-yl]-D-threo-hex-3-enitol" "(1R)-1-{(2S,3S)-3-[(E)-2-{(2S,3S)-3-[(1R)-1-hydroxyethyl]oxiran-2-yl}ethenyl]oxiran-2-yl}prop-2-en-1-ol" "tumour of nerve sheath" @@ -137603,14 +137603,14 @@ "Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant" "Fibrinogen A alpha-chain amyloidosis" "Familial amyloid nephropathy due to fibrinogen A alpha-chain variant" + "blood serum collagen alpha-2(XI) chain amount" "male reproductive system tuberculosis" "Tuberculosis, Male Genital" "male genital tuberculosis" - "blood serum collagen alpha-2(XI) chain amount" + "non-communicating hydrocephalus" "fibrofolliculomas with trichodiscomas and acrochordons" "BHD" "Birt-Hogg-Dube syndrome" - "non-communicating hydrocephalus" "prostate carcinoma" "carcinoma of prostate" "prostate gland carcinoma" @@ -137628,12 +137628,12 @@ "bone biosynthesis" "Peroxisome biogenesis disorder complementation group B" "PBD-CG7" - "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" - "type A insulin resistance syndrome" "FCAS" "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" @@ -138384,6 +138384,7 @@ "1H-1,2,4-triazol-3-amine" "Amitrole" "blood serum membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 amount" + "blood serum RING finger protein 24 amount" "salivary gland acinic cell tumour" "salivary gland acinic cell neoplasm" "acinic cell tumour of salivary gland" @@ -138397,7 +138398,6 @@ "salivary gland acinic cell cancer" "acinic cell carcinoma of salivary gland" "salivary gland acinic cell carcinoma" - "blood serum RING finger protein 24 amount" "blood serum adenylate kinase 4, mitochondrial amount" "MCT" "T mast cells" @@ -138615,8 +138615,8 @@ "trisomy 2q23.1" "Upington disease" "hip dysplasia-enchondromata-ecchondroma syndrome" - "Basel-Vanagaite-Sirota syndrome" "Abnormal GI motility" + "Basel-Vanagaite-Sirota syndrome" "blood serum fumarylacetoacetate hydrolase domain-containing protein 2A amount" "Arecaidine" "Floppy windpipe" @@ -138857,6 +138857,7 @@ "mesodermal mixed tumour" "mullerian mixed tumor (morphologic abnormality)" "malignant mixed Mullerian tumour" + "RCB1144" "gastric cardia cancer" "cardia of stomach carcinoma" "carcinoma of the gastric cardia" @@ -138867,7 +138868,6 @@ "cancer of the gastric cardia" "gastric cardia (stomach) cancer" "cancer of gastric cardia" - "RCB1144" "Pseudo-Morquio syndrome type 2" "17-oxo-5alpha-androstan-3beta-yl hydrogen sulfate" "infection due to Pseudomonas aeruginosa" @@ -138920,7 +138920,6 @@ "combined factor V and VIII deficiency" "LMAN1 combined deficiency of factor V and factor VIII" "factor 5 and Factor VIII, combined deficiency of, 1" - "IgM levels" "HAM syndrome" "APS type 1" "Autoimmune polyendocrine syndrome type 1" @@ -138937,6 +138936,7 @@ "autoimmune-poly-endocrinopathy-candidiasis-ectodermal-dystrophy syndrome" "Multiple endocrine deficiency - Addison's disease - candidiasis" "APECED syndrome" + "IgM levels" "Collapsed lung" "moniliform hair syndrome" "monilethrix" @@ -139153,14 +139153,14 @@ "blood serum selenoprotein W amount" "delta1-pyrroline-5-carboxylate synthetase deficiency" "P5CS deficiency" - "AJ" - "A" "Spine Neck" "pedicle" "Neck (volume)" "adult neck" "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" "SSFSC2" + "AJ" + "A" "TAR syndrome" "thrombocytopenia-absent radius syndrome" "radial aplasia-thrombocytopenia syndrome" @@ -139382,13 +139382,6 @@ "AA1" "1st arch artery" "mandibular aortic arch" - "long QT syndrome caused by mutation in CAV3" - "CAV3 long QT syndrome" - "long QT syndrome 9" - "long QT syndrome type 9" - "LQT9" - "BEST1-related vitreoretinochoroidopathy" - "ADVRIC" "Child Development Disorders" "developmental disability" "Development Disorders, Child" @@ -139409,6 +139402,13 @@ "Development Disorder, Child" "Developmental Disabilities" "Child Development Disorders, Specific" + "long QT syndrome caused by mutation in CAV3" + "CAV3 long QT syndrome" + "long QT syndrome 9" + "long QT syndrome type 9" + "LQT9" + "BEST1-related vitreoretinochoroidopathy" + "ADVRIC" "tumour of soft tissue and bone" "musculoskeletal and soft tissue neoplasm" "neoplasm of soft tissue and skeleton" @@ -139493,9 +139493,9 @@ "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency" "immunodeficiency type 29" "IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" + "nasopharyngeal undifferentiated carcinoma" "nasopharyngeal nonkeratinizing undifferentiated carcinoma" "lymphoepithelioma of the nasopharynx" - "nasopharyngeal undifferentiated carcinoma" "undifferentiated carcinoma of the nasopharynx" "nasopharyngeal lymphoepithelioma" "undifferentiated nasopharyngeal throat cancer" @@ -139983,9 +139983,9 @@ "Fewer or absent grooves in brain" "Cayman ataxia" "pre-NK cell" - "maculopapular rash" "chondrosarcoma (disease) of bone tissue" "bone tissue chondrosarcoma (disease)" + "maculopapular rash" "BPA measurement" "Eastern rat snake" "Elaphe obsoleta" @@ -140310,10 +140310,10 @@ "blood serum methionine-R-sulfoxide reductase B1 amount" "Bleeding below the skin" "Subcutaneous haemorrhage" + "Accelerated skeletal maturation - peculiar facies - failure to thrive" "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" "ectopic acne" @@ -140381,8 +140381,8 @@ "Lyme disease spirochete" "Borrelia burgdorffragment" "blood serum laminin subunit alpha-4 amount" - "Jagell-Holmgren-Hofer syndrome" "blood serum complement C1q-like protein 2 amount" + "Jagell-Holmgren-Hofer syndrome" "carcinoma of nasal cavity" "carcinoma of the nasal cavity" "nasal cavity carcinoma" @@ -140634,11 +140634,11 @@ "ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency" "Gallbladder" "HDL measurement" + "blood serum dual specificity protein kinase CLK2 amount" "Kernicterus of newborn NOS (disorder)" "Kernicterus" "bilirubin encephalopathy" "Kernicterus of newborn (disorder)" - "blood serum dual specificity protein kinase CLK2 amount" "Primary creatine deficiency disorder" "Abnormal muscle tone" "fibrinoligase activity" @@ -140666,11 +140666,11 @@ "Gastroesophageal Reflux" "Reflux, Gastro-Esophageal" "gastro-esophageal reflux" + "Xq21 deletion syndrome, X-linked recessive" + "Ayazi syndrome" "sham therapy" "placebo therapy" "PLCB" - "Xq21 deletion syndrome, X-linked recessive" - "Ayazi syndrome" "Decreased aldosterone" "Mineralocorticoid insufficiency" "Decreased serum aldosterone" @@ -140943,6 +140943,7 @@ "poplars" "Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature" "lung signet ring cell carcinoma" + "Burn-McKeown syndrome" "D-glucose 6-phosphate dehydrogenase activity" "NADP-dependent glucose 6-phosphate dehydrogenase activity" "glucose 6-phosphate dehydrogenase (NADP) activity" @@ -140950,7 +140951,6 @@ "glucose-6-phosphate 1-dehydrogenase activity" "NADP-glucose-6-phosphate dehydrogenase activity" "6-phosphoglucose dehydrogenase activity" - "Burn-McKeown syndrome" "syndactyly, mitten type" "unilateral syndactyly of digits 2-5" "mitten hand" @@ -141399,6 +141399,10 @@ "ocular carcinoma" "eyeball of camera-type eye carcinoma" "carcinoma of eyeball of camera-type eye" + "Congenital tritanopia" + "Blue colour blindness" + "blue color blindness" + "Tritan colour blindness" "Dup(20)(q11.2)" "exocrine pancreas benign neoplasm" "benign neoplasm of the exocrine pancreas" @@ -141410,12 +141414,8 @@ "benign exocrine pancreas tumour" "benign exocrine pancreas neoplasm" "benign tumor of the exocrine pancreas" - "(3S)-3-ammoniopropane-1,1,3-tricarboxylate" - "Congenital tritanopia" - "Blue colour blindness" - "blue color blindness" - "Tritan colour blindness" "Terminal meromelia" + "(3S)-3-ammoniopropane-1,1,3-tricarboxylate" "GM17845 cell" "Ladda-Zonana-Ramer syndrome" "anterior limiting lamina of cornea" @@ -142199,8 +142199,8 @@ "blood serum multimerin-2 amount" "blood serum vacuolar protein-sorting-associated protein 25 amount" "percutaneous renal biopsy" - "(9Z)-N-(2-hydroxyethyl)octadec-9-enamide" "blood serum matrilin-4 amount" + "(9Z)-N-(2-hydroxyethyl)octadec-9-enamide" "spinal muscular atrophy caused by mutation in ATP7A" "X-linked dSMA3" "spinal muscular atrophy, distal, X-linked 3, X-linked recessive" @@ -142489,6 +142489,9 @@ "ribonucleoside synthesis" "ribonucleoside biosynthesis" "ribonucleoside anabolism" + "conventional fibrosarcoma" + "classical fibrosarcoma" + "classic fibrosarcoma" "renal carnitine transport defect" "deficiency of plasma-membrane carnitine transporter" "Carnitine transporter defect" @@ -142501,9 +142504,6 @@ "systemic primary carnitine deficiency disease" "cud" "CDSP" - "conventional fibrosarcoma" - "classical fibrosarcoma" - "classic fibrosarcoma" "SUM44" "SUM 44PE" "SUM-44PE" @@ -143351,8 +143351,8 @@ "Actinobacillus actinomycetemcomitans" "sulphite oxidase activity" "5-{[2-(2-butoxyethoxy)ethoxy]methyl}-6-propyl-1,3-benzodioxole" - "Vitamin D dependent rickets type I" "Vitamin D-dependency type I" + "Vitamin D dependent rickets type I" "VDDI" "Pseudovitamin D-deficient rickets" "VDDR-I" @@ -143567,8 +143567,8 @@ "autosomal recessive nonsyndromic hearing loss 89" "neurodevelopmental disorder with spasticity and poor growth" "maxillary sinus polyp" - "polyp of the maxillary sinus" "maxillary antral polyp" + "polyp of the maxillary sinus" "Myotonia congenita" "Acetoacetate" "3-oxobutanoate" @@ -143632,8 +143632,8 @@ "CHS" "Chediak - Steinbrinck anomaly" "Congenital finger contractures" - "blood serum protein delta homolog 1 amount" "blood serum TOM1-like protein 1 amount" + "blood serum protein delta homolog 1 amount" "Bowed femurs" "Bowed femur" "Bowed thighbone" @@ -143736,12 +143736,12 @@ "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" + "ITM2B-related amyloidosis" "congenital hydrocephalus" "blood serum protein max amount" "crescentic glomerulonephritis" @@ -143963,9 +143963,9 @@ "ocular hypertension" "UPD(X)" "uniparental disomy of chromosome type X" - "gastric fundus" "stomach fundus" "fundus gastricus (ventricularis)" + "gastric fundus" "uveal coloboma-cleft lip and palate-intellectual disability" "FCS syndrome" "Faciocutaneoskeletal syndrome" @@ -144635,6 +144635,7 @@ "set of basal ganglia" "basal ganglia" "ADA2 deficiency" + "Blepharophimosis types 1 and 2 due to polyA expansion" "oxyntic cell" "Klatskin's tumor" "hilar CC" @@ -144646,7 +144647,6 @@ "Klatskin tumour" "hilar CCA" "perihilar extrahepatic bile duct carcinoma" - "Blepharophimosis types 1 and 2 due to polyA expansion" "partial deletion of chromosome type 19" "partial monosomy of chromosome 19" "Actinobacillus pleuropneumoniae serotype 7" @@ -144832,15 +144832,15 @@ "cutaneous PAN" "Tessier number 7 facial cleft" "transverse facial cleft" + "Mosaic paternal uniparental disomy of chromosome 11" + "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11" + "UPD(11)pat" "duodenal atresia (disease)" "atresia of duodenum" "duodenal atresia" "congenital atresia of duodenum" "congenital duodenal atresia" "Duodenal Atresia or Stenosis" - "Mosaic paternal uniparental disomy of chromosome 11" - "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11" - "UPD(11)pat" "Uvula of palate" "Palatine Uvula" "GM10832 cell" @@ -144946,8 +144946,8 @@ "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" @@ -145207,14 +145207,14 @@ "geniculate herpes zoster" "geniculate neuralgia" "Ramsay Hunt syndrome" + "Enhanced S-cone syndrome" + "Retinoschisis with early nyctalopia" "blood serum ATP-dependent zinc metalloprotease YME1L1 amount" "gestational choriocarcinoma of body of uterus" "uterine corpus gestational choriocarcinoma" "gestational uterine corpus choriocarcinoma" "body of uterus gestational choriocarcinoma" "body of uterus choriocarcinoma (disease)" - "Enhanced S-cone syndrome" - "Retinoschisis with early nyctalopia" "acute quadriplegic myopathy" "Leukemia, Erythroblastic, Acute" "blood serum Phosphatidylcholine (20:4_0:0) amount" @@ -145572,7 +145572,6 @@ "Major Depressive Disorders" "Depression, Unipolar" "Depressive Disorder, Major" - "unipolar depression, susceptibility to" "Involutional Psychoses" "Paraphrenia, Involutional" "Depression" @@ -145586,7 +145585,6 @@ "Depressive Neurosis" "Syndromes, Depressive" "Depressive Disorders, Major" - "major depression" "Depression, Involutional" "DEPRESSIVE DIS" "Depression, Emotional" @@ -145594,14 +145592,10 @@ "Depressive Syndromes" "Psychoses, Involutional" "Neurotic Depressions" - "major depressive disorder, response to citalopram therapy in" "Symptom, Depressive" - "major depressive disorder and accelerated response to antidepressant drug treatment" "Depressive Symptoms" "Emotional Depression" "Depressions, Neurotic" - "recurrent major depression" - "single major depressive episode" "Disorder, Major Depressive" "Depressive Symptom" "Endogenous Depression" @@ -145611,7 +145605,6 @@ "major depressive disorder" "Syndrome, Depressive" "Psychosis, Involutional" - "unipolar depression" "Disorders, Major Depressive" "Neurotic Depression" "Emotional Depressions" @@ -146253,6 +146246,9 @@ "blood serum chromobox protein homolog 3 amount" "AML, t(11;19)(q23;p13)" "PC 38:4" + "floor of the oval cavity" + "floor of oval cavity" + "floor of mouth" "orofaciodigital syndrome type X" "orofaciodigital syndrome type 10" "Figuera syndrome" @@ -146260,9 +146256,6 @@ "orofaciodigital syndrome X" "orofaciodigital syndrome with fibular aplasia" "OFD10" - "floor of the oval cavity" - "floor of oval cavity" - "floor of mouth" "neuromasts occipital" "neuromast occipital" "hereditary factor XIII A subunit deficiency" @@ -146495,6 +146488,12 @@ "blood serum protein AMBP amount" "Abnormal aggressive, impulsive or violent behaviour" "kallikrein, decreased urinary activity of" + "TANGO2 deficiency" + "metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" + "TANGO2 Deficiency Disorder" + "transport and golgi organization protein 2 (TANGO2) deficiency" + "MECRCN" + "transport and golgi organisation protein 2 (TANGO2) deficiency" "small cell carcinoma of the cervix" "Cervical small cell cancer" "uterine cervix small cell carcinoma" @@ -146506,12 +146505,6 @@ "small cell carcinoma of the uterine cervix" "cervix small cell carcinoma" "cervix uteri small cell carcinoma" - "TANGO2 deficiency" - "metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" - "TANGO2 Deficiency Disorder" - "transport and golgi organization protein 2 (TANGO2) deficiency" - "MECRCN" - "transport and golgi organisation protein 2 (TANGO2) deficiency" "blood serum papilin amount" "blood serum erlin-1 amount" "X-linked intellectual disability - gynecomastia - obesity" @@ -146544,9 +146537,9 @@ "MSMD due to complete interferon gamma receptor 1 deficiency" "injury of blood vessel" "10X 5' v2" + "floor plate rhombomere 7" "floor plate r7" "floorplate r7" - "floor plate rhombomere 7" "NLRP7 complete hydatidiform mole" "hydatidiform Mole, recurrent, type 1" "complete hydatidiform mole caused by mutation in NLRP7" @@ -146580,7 +146573,6 @@ "1-methyl-6-oxo-1,6-dihydropyridine-3-carboxamide" "partial trisomy of chromosome 1" "partial duplication of chromosome type 1" - "femoral neuropathy" "femoral nerve lesions" "Femoral Neuropathy" "peripheral nerve lesion of femoral nerve" @@ -146588,6 +146580,7 @@ "femoral nerve peripheral nerve lesion" "Femoral nerve lesions" "femoral nerve dysfunction" + "femoral neuropathy" "blood serum centrosomal protein of 76 kDa amount" "ECO syndrome" "epithelioid cell melanoma (morphologic abnormality)" @@ -146595,9 +146588,9 @@ "epithelioid cell melanoma" "epithelioid cell malignant melanoma" "gastrocnemius muscle" + "blood serum bombesin receptor-activated protein C6orf89 amount" "gd thymocyte" "gammadelta thymocyte" - "blood serum bombesin receptor-activated protein C6orf89 amount" "pain disorder" "SK23-mel" "rare inborn error of sulphur amino acid metabolic process" @@ -146672,8 +146665,8 @@ "2,3-dihydroxypropyl (9Z)-octadec-9-enoate" "1-oleoylglycerol" "Non-cerebral juvenile Gaucher disease" - "GM17776 cell" "Primary blepharospasm" + "GM17776 cell" "Crohn's ileitis" "kuru, susceptibility to" "combined 17-hydroxylase/17,20-lyase deficiency" @@ -146796,8 +146789,6 @@ "malignant neoplasm of parametrium" "cancer of parametrium" "malignant parametrium neoplasm" - "LM3" - "MHCC-LM3" "muscular dystrophy-dystroglycanopathy (limb-girdle) type C14" "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related" "muscular dystrophy limb-girdle type 2T" @@ -146806,6 +146797,8 @@ "LGMD2T" "LGMD-GMPPB related" "MDDGC14" + "LM3" + "MHCC-LM3" "blood serum opiorphin prepropeptide amount" "Martuba-0" "neurogenic placodes" @@ -147079,6 +147072,8 @@ "pediatric teratoma of the ovary" "pediatric teratoma of ovary" "blood serum mitochondrial glycine transporter amount" + "decidual NK cell" + "dNK cell" "squamous cell carcinoma of trachea" "epidermoid carcinoma of trachea" "tracheal epidermoid carcinoma" @@ -147087,8 +147082,6 @@ "epidermoid carcinoma of the trachea" "squamous cell carcinoma of the trachea" "trachea epidermoid carcinoma" - "decidual NK cell" - "dNK cell" "lipoate biosynthesis defect" "inborn error of lipoate biosynthetic process" "rare inborn error of lipoate biosynthetic process" @@ -147227,6 +147220,7 @@ "TAG 46:1" "alloimmunisation" "Mokola lyssavirus" + "Rajab-Spranger syndrome" "malignant tumour of the accessory sinus" "malignant neoplasm of accessory sinus" "malignant accessory sinus neoplasm" @@ -147245,7 +147239,6 @@ "malignant tumor of the accessory sinus" "malignant tumor of the paranasal sinus" "malignant tumour of the paranasal sinus" - "Rajab-Spranger syndrome" "Joubert syndrome type 5" "CEP290 Joubert syndrome" "Joubert syndrome 5" @@ -147682,8 +147675,8 @@ "cancer of uterine cervix" "malignant cervix tumor" "malignant cervix uteri tumor" - "cervix uteri cancer" "malignant uterine cervix tumour" + "cervix uteri cancer" "malignant tumour of cervix" "malignant cervix uteri tumour" "malignant tumour of the uterine cervix" @@ -147722,8 +147715,8 @@ "blood serum low-density lipoprotein receptor-related protein 5 amount" "disease of optic tract" "disorder of optic tract" - "optic tract disease" "visual pathway disorder" + "optic tract disease" "optic tract disease or disorder" "disease or disorder of optic tract" "CD8-positive, alpha-beta Treg" @@ -148180,9 +148173,6 @@ "2-Nitrofluorene" "2-nitro-9H-fluorene" "(9Z,12Z,15Z)-octadeca-9,12,15-trienoate" - "supernumerary" - "present in greater numbers in organism" - "increased number" "hereditary cerebral haemorrhage with amyloidosis" "amyloidosis, Cerebroarterial, Icelandic type" "HCHWA, Icelandic type" @@ -148194,6 +148184,9 @@ "cerebral hemorrhage, hereditary, with amyloidosis" "hereditary cerebral haemorrhage with amyloidosis, Icelandic type" "hereditary cerebral hemorrhage with amyloidosis, Icelandic type" + "supernumerary" + "present in greater numbers in organism" + "increased number" "malignant neoplasm of auditory system" "auditory system cancer" "malignant auditory system neoplasm" @@ -148257,15 +148250,15 @@ "Mesomelic limb shortening" "Mesomelic shortening of limbs" "N-methylmalonamic acid" + "Chitayat syndrome" + "CHYTS" + "Chitayat syndrome; CHYTS" "Connective tissue disorder due to LH3 deficiency" "Bone fragility-contractures-arterial rupture-deafness syndrome" "UP/MPCM" "urticaria pigmentosa/maculopapular cutaneous mastocytosis" "maculopapular cutaneous mastocytosis" "urticaria pigmentosa" - "Chitayat syndrome" - "CHYTS" - "Chitayat syndrome; CHYTS" "transitional cell carcinoma" "urothelial cell carcinoma" "carcinoma of transitional epithelial cell" @@ -148389,8 +148382,8 @@ "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" @@ -148475,9 +148468,6 @@ "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" @@ -148505,6 +148495,9 @@ "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" @@ -148748,8 +148741,6 @@ "iron-refractory iron deficiency anemia" "IRIDA syndrome" "iron-refractory iron deficiency anaemia" - "I-cell disease" - "N-acetylglucosamine 1-phosphotransferase deficiency" "hyperphenylalaninemia, BH4-deficient C" "hyperphenylalaninemia due to dihydropteridine reductase deficiency" "disorder of 6,7-dihydropteridine reductase activity" @@ -148758,6 +148749,8 @@ "PKU type 2" "phenylketonuria type 2" "hyperphenylalaninemia, Bh4-deficient, type C" + "I-cell disease" + "N-acetylglucosamine 1-phosphotransferase deficiency" "Reticulum cell sarcoma" "reticulosarcoma" "reticulum cell sarcoma" @@ -148965,13 +148958,13 @@ "gallbladder leiomyoma" "leiomyoma of the gallbladder" "leiomyoma of gall bladder" + "Cerebro-oculo-dento-auriculo-skeletal syndrome" "peroxisome biogenesis disorder 1A (Zellweger)" "skin zone" "portion of skin" "region of skin" "skin" "skin region" - "Cerebro-oculo-dento-auriculo-skeletal syndrome" "disease or disorder of tongue" "tongue disease" "disorder of tongue" @@ -149792,8 +149785,8 @@ "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" @@ -149922,8 +149915,8 @@ "malignant tumor of the pericardium" "malignant neoplasm of pericardium" "malignant tumor of pericardium" - "malignant tumour of the pericardium" "malignant neoplasm of the pericardium" + "malignant tumour of the pericardium" "malignant pericardial neoplasm" "cancer of pericardium" "malignant pericardium neoplasm" @@ -151075,25 +151068,25 @@ "female organism reproductive system gonad" "gonad of female organism reproductive system" "female organism genitalia gonad" - "genitalia of female organism gonad" "gonad of genitalia of female organism" + "genitalia of female organism gonad" "gonad of female organism genitalia" "gonada of reproductive system of female organism" "female gonad" "ovum-producing ovary" "reproductive system of female organism gonada" - "KNOBLOCH syndrome 1" - "retinal detachment-occipital encephalocele syndrome" - "Knobloch syndrome, type 1" - "KNO1" - "Knobloch-Layer syndrome" - "Knobloch syndrome type 1" "Microcephaly, acquired" "Postnatal deceleration of head circumference" "Acquired microcephaly" "Microcephaly, postnatal" "Deceleration of head growth" "Postnatal microcephaly" + "KNOBLOCH syndrome 1" + "retinal detachment-occipital encephalocele syndrome" + "Knobloch syndrome, type 1" + "KNO1" + "Knobloch-Layer syndrome" + "Knobloch syndrome type 1" "WRS" "early-onset diabetes mellitus with multiple epiphyseal dysplasia" "Wolcott-Rallison syndrome" @@ -151677,10 +151670,10 @@ "Abnormality of subcortical white matter" "White matter abnormalities" "Cerebral white matter abnormalities" + "blood serum TNFAIP3-interacting protein 1 amount" "sedoheptulokinase deficiency" "SHPKD" "isolated SHPK deficiency" - "blood serum TNFAIP3-interacting protein 1 amount" "C-X-C motif chemokine 6" "GCP-5 measurement" "granulocyte chemotactic protein 2 measurement" @@ -152109,8 +152102,8 @@ "Theileria tsutsugamushi" "Rickettsia akamushi" "EEG with generalised epileptiform discharges" - "blood serum adaptin ear-binding coat-associated protein 2 amount" "Burkholderia mana" + "blood serum adaptin ear-binding coat-associated protein 2 amount" "tubulus contortus distalis" "distal convoluted renal tubule" "Tarlov cyst" @@ -152616,7 +152609,6 @@ "TSH resistance" "hypothyroidism, congenital, nongoitrous, type 1" "protein levels" - "carcinoma of the skin" "zone of skin carcinoma" "skin carcinoma" "non-melanoma skin cancer" @@ -152626,6 +152618,7 @@ "non-melanoma cancer of skin" "carcinoma of zone of skin" "skin cancer, non-melanoma" + "carcinoma of the skin" "phosphatidylcholine O-34:2" "COXPD26" "partial monosomy of chromosome 2" @@ -152860,11 +152853,11 @@ "Absent vagina" "selective Immunoglobulin isotype deficiency" "phosphatidylcholine O-40:1" + "FENIB" "Chondromalacia, systemic" "relapsing polychondritis" "chondromalacia, systemic" "Polychondritis, Relapsing" - "FENIB" "Myopic maculopathy" "myopic macular degeneration" "myopic maculopathy" @@ -153297,9 +153290,9 @@ "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" @@ -153456,7 +153449,6 @@ "malignant tumour of iris" "lipidosis with triglyceride storage disease" "blood serum reticulon-4 receptor-like 1 amount" - "kersey syndrome" "anal canal neuroendocrine neoplasm" "neuroendocrine neoplasm of anal canal" "neuroendocrine neoplasm of the anus" @@ -153464,6 +153456,7 @@ "neuroendocrine neoplasm of anus" "anus neuroendocrine neoplasm" "Liver failure" + "kersey syndrome" "Ret. Corpuscular Hemoglobin Content" "Total Reticulocyte Corpuscular Hemoglobin Content Measurement" "CHr" @@ -153859,6 +153852,7 @@ "myotonia-intellectual disability-skeletal anomalies syndrome" "resistance gene enrichment sequencing" "{(1Z)-5-fluoro-2-methyl-1-[4-(methylsulfonyl)benzylidene]-1H-inden-3-yl}acetic acid" + "Pierre Robin sequence - oligodactyly" "stage 0is ureteral carcinoma" "stage 0is carcinoma of the ureter" "ureter cancer stage 0is" @@ -153875,7 +153869,6 @@ "stage 0is ureter cancer" "ureter carcinoma in situ" "carcinoma in situ of the ureter" - "Pierre Robin sequence - oligodactyly" "blood serum transcription elongation factor A protein-like 2 amount" "familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome" "Daentl-Townsend-Siegel syndrome" @@ -154352,8 +154345,8 @@ "Different colored eyes" "glycyl-L-tryptophan" "GM17222 cell" - "earlobe attachment" "blood serum interleukin-6 receptor subunit beta amount" + "earlobe attachment" "GM17746 cell" "liver lipoma" "lipoma of the liver" @@ -154540,7 +154533,6 @@ "AGEPC (acetyl glyceryl ether phosphorylcholine) levels" "PAF acether levels" "[(2R)-2-acetyloxy-3-hexadecoxypropyl] 2-(trimethylazaniumyl)ethyl phosphate levels" - "Macroblepharon - ectropion - hypertelorism - macrostomia syndrome" "blood serum lymphokine-activated killer T-cell-originated protein kinase amount" "Methanobacterium ruminantium" "blood serum tRNA-specific adenosine deaminase 2 amount" @@ -154554,6 +154546,7 @@ "mouse" "mice C57BL/6xCBA/CaJ hybrid" "Mus muscaris" + "Macroblepharon - ectropion - hypertelorism - macrostomia syndrome" "Reduced serum alpha-1-antitrypsin" "blood serum caspase recruitment domain-containing protein 18 amount" "KAT6A Syndrome" @@ -154844,13 +154837,13 @@ "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" @@ -154998,8 +154991,8 @@ "nail disease" "acute laryngotracheobronchitis" "croup" - "croup syndrome" "Croup syndrome" + "croup syndrome" "Croup (disorder)" "Croup" "Laryngotracheobronchitis" @@ -155022,8 +155015,8 @@ "leukoplakia of cervix (uteri)" "leukoplakia of the uterine cervix" "leukoplakia of the cervix uteri" - "leukoplakia of cervix uteri" "leukoplakia of cervix" + "leukoplakia of cervix uteri" "cervical leukoplakia" "cervix uteri leukoplakia" "leukoplakia of uterine cervix" @@ -155260,9 +155253,9 @@ "EBS, generalised severe" "epidermolysis bullosa simplex Dowling-Meara type" "EBSDM" - "pili multigemini" "high grade" "grade 3/4" + "pili multigemini" "craniosynostosis with facial dysmorphism and brachydactyly syndrome" "VC$sterbotten dystrophy" "Västerbotten dystrophy" @@ -155367,8 +155360,8 @@ "distal trisomy type 4q" "recorded followup status" "recorded follow up status" - "HRG" "arthrogryposis, Perthes disease, and upward gaze palsy" + "HRG" "blood serum vitrin amount" "leiomyosarcoma of the CNS" "leiomyosarcoma of CNS" @@ -155459,13 +155452,13 @@ "Williams-Beuren syndrome" "deletion 7q11.23" "Fanconi Schlesinger syndrome" - "Coimbra-1" "primary familial hypomagnesemia" "familial primary hypomagnesemia" "HOMG" "5q31.3 microdeletion syndrome" "monosomy 5q31.3" "Del(5)(q31.3)" + "Coimbra-1" "GM13995 cell" "spinal muscular atrophy Jerash type" "dHMNJ" @@ -156359,13 +156352,13 @@ "Van Maldergem syndrome" "blood serum bone morphogenetic protein 4 amount" "Salmeterol" - "CHRF-288-11" "MYXEDEMA" "myxoedema" "Myxedema (disorder)" "Myxedema" "myxedema" "Myxoedema" + "CHRF-288-11" "combined oxidative phosphorylation deficiency type 14" "COXPD14" "combined oxidative phosphorylation deficiency caused by mutation in FARS2" @@ -156693,8 +156686,8 @@ "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" @@ -156976,12 +156969,12 @@ "hereditary ATTR amyloidosis" "biliary apparatus" "blood serum sodium/potassium-transporting ATPase subunit gamma amount" - "Frydman-Cohen-Karmon syndrome" "Alphavirus disease or disorder" "Alphavirus Infections" "Alphavirus caused disease or disorder" "Alphavirus infectious disease" "M14 cell" + "Frydman-Cohen-Karmon syndrome" "(2S)-3-(2-mercapto-1H-imidazol-5-yl)-2-(trimethylazaniumyl)propanoate" "blood serum pyruvate carboxylase, mitochondrial amount" "flower morphogenesis stage" @@ -157322,6 +157315,8 @@ "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" @@ -157333,8 +157328,6 @@ "benign ovarian neoplasm" "benign ovarian tumour" "benign ovarian tumor" - "XX gonodal dysgenesis-deafness syndrome" - "Perrault syndrome" "pseudopseudohypoparathyroidism" "aho-PPHP syndrome" "Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]" @@ -158384,12 +158377,6 @@ "infantile Rathburn disease" "HOPS" "Septopreoptic HPE" - "SUM 185PE" - "185PE" - "SUM185" - "SUM-185PE" - "SUM-185" - "SUM 185" "Ancylostoma infectious disease" "Ancylostoma caused disease or disorder" "Ancylostoma disease or disorder" @@ -158397,6 +158384,12 @@ "Ancylostomiasis" "ancylostomiasis" "Ancylostomiasis (disorder)" + "SUM 185PE" + "185PE" + "SUM185" + "SUM-185PE" + "SUM-185" + "SUM 185" "blood serum protein FAM3A amount" "blue cone monochromacy, X-linked recessive" "colour blindness, blue monocone monochromatic type" @@ -158578,10 +158571,10 @@ "central conducting lymphatic anomaly" "lymphatic malformation 12" "LMPHM12" - "blood serum ubiquitin domain-containing protein 2 amount" "Pierre Robin sequence - congenital heart defect - talipes" "Pierre Robin syndrome - congenital heart defect - talipes" "Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava" + "blood serum ubiquitin domain-containing protein 2 amount" "Postoperative Nausea and Vomiting" "blood serum protein kinase C and casein kinase substrate in neurons protein 3 amount" "fl" @@ -159025,11 +159018,15 @@ "Herbaspirillum seropedicae str. SmR1" "Ficoll gradient" "Ficoll WBC Isolation" - "macrocephaly-intellectual disability-autism syndrome" "MRSA Pneumonia" "Methicillin-Resistant Staphylococcus Aureus Pneumonia" "Methicillin-Resistant Staphylococcus aureus Pneumonia" + "macrocephaly-intellectual disability-autism syndrome" "face lipoma" + "partial trisomy of chromosome 4p" + "partial duplication of the short arm of chromosome type 4" + "partial trisomy of the short arm of chromosome 4" + "partial duplication of chromosome 4p" "vaginal carcinoma" "carcinoma of the vagina" "vagina carcinoma" @@ -159041,10 +159038,6 @@ "bone marrow tumour" "neoplasm of bone marrow" "tumor of bone marrow" - "partial trisomy of chromosome 4p" - "partial duplication of the short arm of chromosome type 4" - "partial trisomy of the short arm of chromosome 4" - "partial duplication of chromosome 4p" "Salmonella enterica subsp. VI" "Salmonella choleraesuis subsp. indica" "Salmonella enterica VI" @@ -159092,12 +159085,6 @@ "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" @@ -159105,6 +159092,12 @@ "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" @@ -159204,6 +159197,7 @@ "HT-1197" "cerebrum" "endbrain" + "CMT4H" "set of bones of body" "set of all bones" "Postpartum Pituitary Insufficiency" @@ -159237,7 +159231,6 @@ "Insufficiency, Pituitary" "Hypopituitarism NOS (disorder)" "Anterior Pituitary Hyposecretion Syndrome" - "CMT4H" "blood serum pantetheine hydrolase VNN2 amount" "OCMD" "occult macular dystrophy" @@ -159250,8 +159243,8 @@ "SHFLD syndrome" "Split-hand/foot malformation associated with aplasia of long bones" "Tibial hemimelia with split hand/foot malformation" - "pancreatic buds" "pancreatic bud" + "pancreatic buds" "Measles morbillivirus infectious disease" "rubeola infection" "morbilli" @@ -159602,9 +159595,6 @@ "HTC1" "Ambras syndrome" "r8" - "Rhizobium etli strain CFN 42" - "Rhizobium etli str. CFN 42" - "Rhizobium etli CFN42" "Decreased breadth of face" "Horizontal hypoplasia of face" "Transverse deficiency of face" @@ -159618,6 +159608,9 @@ "Transverse insufficiency of face" "Narrow face" "Horizontal insufficiency of face" + "Rhizobium etli strain CFN 42" + "Rhizobium etli str. CFN 42" + "Rhizobium etli CFN42" "17p13.3 duplication syndrome" "trisomy 17p13.3" "17p13.3 microduplication syndrome" @@ -159670,9 +159663,9 @@ "Congenital erythrocytosis due to erythropoietin receptor mutation" "Familial erythrocytosis" "Primary congenital erythrocytosis" - "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" @@ -159751,6 +159744,11 @@ "paralysis, respiratory" "hereditary prion disease" "familial prion disease" + "SUM-190PT" + "SUM-190" + "SUM 190PT" + "SUM190" + "SUM 190" "anisakiasis" "infection by Anisakis larva" "Infection by Anisakis larva (disorder) [Ambiguous]" @@ -159758,11 +159756,6 @@ "Anisakiasis" "Anisakiasis (disorder)" "Infection by Anisakis larva" - "SUM-190PT" - "SUM-190" - "SUM 190PT" - "SUM190" - "SUM 190" "benign tumour of Ear" "benign Ear tumor" "aural neoplasms, benign" @@ -159792,13 +159785,13 @@ "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" @@ -159911,8 +159904,8 @@ "exanthema" "Recurrent inflammation of tonsils" "blood serum pterin-4-alpha-carbinolamine dehydratase amount" - "leukodystrophy, hypomyelinating, 15" "CSS" + "leukodystrophy, hypomyelinating, 15" "Drosophila sechellia Tsacas and Bachli, 1981" "muscle of pectoral region" "M. pectoralis" @@ -160005,6 +159998,10 @@ "SGCA autosomal recessive limb-girdle muscular dystrophy" "Alpha-sarcoglycanopathy" "muscular dystrophy, limb-girdle, type 2D" + "occupational dermatitis" + "occupational eczema" + "occupational allergic contact dermatitis" + "occupational eczema (disorder) [ambiguous]" "Ehlers-Danlos syndrome type 4" "EDS type 4" "EDS IV" @@ -160012,10 +160009,6 @@ "sack-Barabas syndrome" "Ehlers-Danlos syndrome, type IV" "Ehlers-Danlos syndrome, vascular type" - "occupational dermatitis" - "occupational eczema" - "occupational allergic contact dermatitis" - "occupational eczema (disorder) [ambiguous]" "Scyliorhinus caniculus" "smaller spotted dogfish" "Scyliorhinus canicula (Linnaeus, 1758)" @@ -160037,11 +160030,11 @@ "mammary epithelium" "lactiferous gland epithelium" "mammary gland epithelium" - "UACC.257" "colorectal (colon or rectal) adenosquamous cancer" "colorectal adenosquamous cancer" "colorectal adenosquamous carcinoma" "colorectum adenosquamous carcinoma" + "UACC.257" "GM17110 cell" "blood serum PDZ and LIM domain protein 4 amount" "childhood-onset phosphoethanolaminuria" @@ -160508,7 +160501,6 @@ "adult spinal cord glioblastoma" "glioblastoma multiforme of spinal cord" "blood serum coagulation factor XI amount" - "CMT4B1" "blood serum ATPase family gene 2 protein homolog A amount" "clear cell adenocarcinoma of ovary" "ovarian clear cell adenocarcinoma" @@ -160539,6 +160531,7 @@ "Ondine curse" "congenital central hypoventilation syndrome" "CCHS" + "CMT4B1" "cDNA library construction" "complementary DNA" "cDNA" @@ -160654,10 +160647,10 @@ "pharynx muscle organ" "pharynx muscle" "pharyngeal muscle" - "ASD, sinus venosus type" "Bartter syndrome type III" "Bartter syndrome type 3" "Adult Bartter syndrome" + "ASD, sinus venosus type" "Extreme thirst" "blood serum copine-7 amount" "blood serum neurexophilin-2 amount" @@ -160752,8 +160745,8 @@ "(1S,2S,3R,4S,6R)-4,6-diamino-3-(2,6-diamino-2,3,6-trideoxy-alpha-D-ribo-hexopyranosyloxy)-2-hydroxycyclohexyl 3-amino-3-deoxy-alpha-D-glucopyranoside" "Tobramycin" "blood serum baculoviral IAP repeat-containing protein 7 amount" - "3-(hexadecanoyloxy)-4-(trimethylazaniumyl)butanoate" "N-propanoylglycine" + "3-(hexadecanoyloxy)-4-(trimethylazaniumyl)butanoate" "microvascular complications of diabetes" "N-acetyl-L-alanine" "malignant giant cell tumor" @@ -160848,13 +160841,13 @@ "childhood osteosarcoma (disease)" "osteosarcoma (disease) of childhood" "childhood osteogenic sarcoma" + "pelvic fins" "disorder of eyelid" "eyelid disorder" "disease or disorder of eyelid" "eyelid disease" "disease of eyelid" "eyelid disease or disorder" - "pelvic fins" "chlamydiaceae infections" "blood serum hemoglobin subunit epsilon amount" "colitis of indeterminate type" @@ -161059,13 +161052,13 @@ "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" @@ -161160,8 +161153,8 @@ "DMRV" "IBM2" "Distal myopathy with rimmed vacuoles" - "Inclusion body myopathy type 2" "Hereditary inclusion body myopathy type 2" + "Inclusion body myopathy type 2" "Quadriceps-sparing myopathy" "thrombocytopenic purpura" "LCA9" @@ -161174,10 +161167,10 @@ "protein positioning" "protein recruitment" "establishment of protein localisation" - "blood serum 5-formyltetrahydrofolate cyclo-ligase MTHFS amount" - "suicidal thought" "Autosomal dominant optic atrophy, Kjer type" "Kjer disease" + "blood serum 5-formyltetrahydrofolate cyclo-ligase MTHFS amount" + "suicidal thought" "DS" "Severe myoclonic epilepsy of infancy" "SMEI" @@ -161185,8 +161178,8 @@ "Jacobson's organ" "zone of skin leiomyosarcoma" "cutaneous leiomyosarcoma" - "skin leiomyosarcoma" "leiomyosarcoma of the skin" + "skin leiomyosarcoma" "leiomyosarcoma of zone of skin" "cutaneous leiomyosarcoma (disease)" "leiomyosarcoma of skin" @@ -162074,8 +162067,8 @@ "pyloric stenosis, infantile hypertrophic 1, multifactorial" "IHPS1" "pyloric stenosis, infantile hypertrophic, 1" - "Diverticulum, Stomach" "SPG68" + "Diverticulum, Stomach" "MB436" "MDA436" "MDA-MB-436" @@ -162270,15 +162263,15 @@ "leiomyosarcoma of bone" "bone leiomyosarcoma" "bone tissue leiomyosarcoma" + "Alveolar capillary dysplasia with misalignment of pulmonary vessels" + "Alveolar capillary dysplasia with misalignment of pulmonary veins" + "ACDMPV" "fallopian tube disorder" "disease or disorder of fallopian tube" "fallopian tube disease or disorder" "disorder of fallopian tube" "fallopian tube disease" "disease of fallopian tube" - "Alveolar capillary dysplasia with misalignment of pulmonary vessels" - "Alveolar capillary dysplasia with misalignment of pulmonary veins" - "ACDMPV" "benign Sex cord-stromal tumour of ovary" "ovarian SEX cord-stromal tumor, benign" "benign Sex cord-stromal tumor of the ovary" @@ -162317,8 +162310,8 @@ "malignant tumour of sebaceous gland" "malignant sebaceous neoplasm" "malignant sebaceous gland tumour" - "malignant tumor of the sebaceous gland" "malignant tumour of the sebaceous gland" + "malignant tumor of the sebaceous gland" "PROCHOB" "PROTEINURIA, CHRONIC BENIGN" "proteinuria, chronic benign" @@ -163220,19 +163213,19 @@ "benign reproductive system neoplasm" "blood serum perilipin-3 amount" "PAPB" - "Monosomy 9p13" - "Del(9)(p13)" "pancreatic adenocarcinoma" "adenocarcinoma - pancreas" "pancreas adenocarcinoma" "adenocarcinoma of pancreas" "adenocarcinoma of the pancreas" + "Monosomy 9p13" + "Del(9)(p13)" "blood serum large ribosomal subunit protein mL52 amount" - "blood serum calcium-activated chloride channel regulator 2 amount" "pilocytic astrocytoma of the cerebellum" "cerebellum pilocytic astrocytoma" "cerebellar pilocytic astrocytoma" "pilocytic astrocytoma of cerebellum" + "blood serum calcium-activated chloride channel regulator 2 amount" "blood serum dipeptidyl peptidase 4 amount" "RANDOM" "Random selection by shearing" @@ -163441,11 +163434,11 @@ "Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1" "Jervell and Lange-Nielsen syndrome type 2" "KCNE1 Jervell and Lange-Nielsen syndrome" - "CMTDIB" "SPG69" "4-{(2R)-2-[(1S,3S,5S)-3,5-dimethyl-2-oxocyclohexyl]-2-hydroxyethyl}piperidine-2,6-dione" "cycloheximide" "Cycloheximide" + "CMTDIB" "racemose aneurysm (morphologic abnormality)" "racemose aneurysm" "racemose angioma" @@ -164019,12 +164012,12 @@ "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" @@ -164309,10 +164302,10 @@ "embryonic in Arabidopsis" "embryo development stage" "blood serum tyrosyl-DNA phosphodiesterase 1 amount" - "ampulla of Vater adenosquamous carcinoma" - "hepatopancreatic ampulla adenosquamous carcinoma" "NCI-H322" "H322T" + "ampulla of Vater adenosquamous carcinoma" + "hepatopancreatic ampulla adenosquamous carcinoma" "Agnosia" "T.DP69+.Th" "Friend Virus B NIH" @@ -164330,9 +164323,9 @@ "Cafe au lait spots" "Cafe-au-lait macules" "Cafe-au-lait macule" - "blood serum late cornified envelope protein 3C amount" "syndromic nail anomaly" "syndrome associated with nail anomaly" + "blood serum late cornified envelope protein 3C amount" "benign neoplasm of the anus" "benign tumour of the anus" "benign anal neoplasm" @@ -164462,14 +164455,14 @@ "3-methylglutaconic aciduria, type VIII" "3-methylglutaconic aciduria type VIII, MGCA8" "3-methylglutaconic aciduria, type VIII; MGCA8" - "European beech" - "Fagus sylvestris" "otospondylmegaepiphyseal dysplasia" "Nance-Insley syndrome" "Nance-Sweeney chondrodysplasia" "otospondylomegaepiphyseal dysplasia" "chondrodystrophy with sensorineural deafness" "OSMED" + "European beech" + "Fagus sylvestris" "Abnormality of adipose tissue" "Abnormality of fatty tissue" "Abnormality of fat tissue" @@ -164875,8 +164868,8 @@ "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" @@ -165570,6 +165563,9 @@ "periodontal disease" "periodontium disease" "disorder of periodontium" + "melanoma, cutaneous malignant, susceptibility to, 3" + "melanoma, cutaneous malignant, susceptibility to, type 3" + "melanoma, cutaneous malignant, 3" "nerve plexus disorder" "disease or disorder of nerve plexus" "disease of nerve plexus" @@ -165577,9 +165573,6 @@ "disorder of nerve plexus" "plexopathy" "nerve plexus disease or disorder" - "melanoma, cutaneous malignant, susceptibility to, 3" - "melanoma, cutaneous malignant, susceptibility to, type 3" - "melanoma, cutaneous malignant, 3" "blood serum ADP-ribosylation factor-like protein 1 amount" "mitral valve prolapse, myxomatous 2" "MMVP2" @@ -166104,6 +166097,7 @@ "Degeneration of intervertebral disks" "Degenerative disk disease" "Degenerative disc disease" + "sodium" "neoplasm of Mast cells" "Mast cell tumour" "tumor of Mast cells" @@ -166116,7 +166110,6 @@ "neoplasm of the Mast cells" "tumour of the Mast cells" "mast cell tumour" - "sodium" "parakeratotic papilloma of skin" "parakeratotic skin papilloma" "squamous cell skin papilloma" @@ -166124,8 +166117,8 @@ "zone of skin squamous papilloma" "squamous cell papilloma of skin" "hyperkeratotic papilloma of the skin" - "Dyskeratotic papilloma of the skin" "squamous cell papilloma of the skin" + "Dyskeratotic papilloma of the skin" "hyperkeratotic skin papilloma" "Dyskeratotic skin papilloma" "hyperkeratotic papilloma of skin" @@ -166435,10 +166428,10 @@ "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" @@ -166540,6 +166533,17 @@ "ether lipid anabolism" "congenital disorder of deglycosylation 2" "CDDG2" + "Gilbert's syndrome" + "familial cholemia" + "Gilbert syndrome" + "Gilbert disease" + "Gilbert-Meulengracht syndrome" + "hereditary nonhemolytic jaundice" + "Gilbert Disease" + "constitutional hyperbilirubinemia" + "Constitutional hyperbilirubinemia" + "hyperbilirubinemia type 1" + "Gilbert's disease" "response to lamotrigine trait" "malignant neoplasm of the urinary bladder" "malignant neoplasm, bladder" @@ -166568,29 +166572,18 @@ "malignant neoplasm of bladder" "malignant neoplasm of urinary bladder" "urinary bladder malignant tumor" - "Gilbert's syndrome" - "familial cholemia" - "Gilbert syndrome" - "Gilbert disease" - "Gilbert-Meulengracht syndrome" - "hereditary nonhemolytic jaundice" - "Gilbert Disease" - "constitutional hyperbilirubinemia" - "Constitutional hyperbilirubinemia" - "hyperbilirubinemia type 1" - "Gilbert's disease" "pancreatic body" "pancreas body" "blood serum polypeptide N-acetylgalactosaminyltransferase 13 amount" "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)" @@ -166745,6 +166738,7 @@ "adenoma of the stomach" "adenoma of stomach" "stomach adenoma" + "blood serum neurotensin/neuromedin N amount" "malignant neoplasm of faucial tonsil" "malignant tumor of tonsil" "malignant tonsil neoplasm" @@ -166762,12 +166756,11 @@ "malignant neoplasm of tonsil, faucial" "malignant tonsillar neoplasm" "malignant neoplasm of palatine tonsil" - "blood serum neurotensin/neuromedin N amount" "GM15227 cell" "blood serum beta-defensin 1 amount" + "tarsal-carpal coalition syndrome" "Chitosan" "(1->4)-2-amino-2-deoxy-beta-D-glucan" - "tarsal-carpal coalition syndrome" "HIV" "AIDS virus" "Pierson syndrome" @@ -167407,8 +167400,6 @@ "telangiectatic osteosarcoma (morphologic abnormality)" "partial deletion of chromosome type 6" "partial monosomy of chromosome 6" - "patent ductus arteriosus with facial dysmorphism and abnormal fifth digits" - "Char syndrome" "ependymoma, malignant" "undifferentiated ependymal neoplasm" "anaplastic ependymal neoplasm" @@ -167424,6 +167415,8 @@ "high-grade ependymoma" "undifferentiated ependymal tumor" "malignant ependymoma" + "patent ductus arteriosus with facial dysmorphism and abnormal fifth digits" + "Char syndrome" "Hereditary progressive arthroophthalmopathy" "placenta previa" "placenta praevia" @@ -167754,8 +167747,8 @@ "Impingement syndrome of shoulder region" "Subacromial impingement (disorder)" "Shoulder Impingement Syndrome" - "total RNA extract" "response to 4-(4-Hydroxyphenyl)-2-butanol" + "total RNA extract" "blood serum microfibrillar-associated protein 3-like amount" "NMZL" "nodal marginal zone B-cell lymphoma" @@ -167779,15 +167772,15 @@ "Partial monosomy of the short arm of chromosome 4" "Partial monosomy of chromosome 4p" "Partial deletion of chromosome 4p" + "social anxiety disorder" + "social anxiety" + "social phobia" + "SAD" "Hirschsprung disease and intellectual disability due to del(2)(q22)" "Mowat-Wilson syndrome due to 2q22 microdeletion" "Hirschsprung disease and intellectual disability due to monosomy 2q22" "Mowat-Wilson syndrome due to del(2)q(22)" "Hirschsprung disease and intellectual disability due to 2q22 microdeletion" - "social anxiety disorder" - "social anxiety" - "social phobia" - "SAD" "Female pseudohermaphroditism - anorectal anomalies" "EJM1" "Fordyce's spot" @@ -168648,11 +168641,10 @@ "vulvar polyp" "polyp of the vulva" "vulva polyp" + "tympanitis, chronic" "Monosomy 10q22.3q23.3" "Deletion 10q22.3q23.3" "Del(10)(q22.3q23.3)" - "tympanitis, chronic" - "46,XY DSD of gynecological interest" "uveal tumour" "uvea tumour" "neoplasm of uvea" @@ -168665,6 +168657,7 @@ "neoplasm of the uvea" "uveal neoplasm" "tumor of uvea" + "46,XY DSD of gynecological interest" "Hemoglobin Tetramer" "HGBTET" "Rickettsia trachomae" @@ -169256,8 +169249,8 @@ "Pennisetum americanum" "NKT.44-NK1.1-.Th" "carbon" - "HCC-1007" "Spermatic cord torsion" + "HCC-1007" "skeletal defects, genital hypoplasia, and mental retardation" "skeletal defects, genital hypoplasia, and intellectual disability" "mammalgia" @@ -169382,8 +169375,6 @@ "anauxetic dysplasia 3" "ANXD3" "ANAUXETIC DYSPLASIA 3" - "paraplegia" - "paraplegia, lower" "pseudoxanthoma elasticum-like syndrome" "PXE-like syndrome" "Bypasses, Coronary Artery" @@ -169401,6 +169392,8 @@ "Coronary Artery Bypasses" "Bypass Surgery, Coronary Artery" "Bypass, Coronary Artery" + "paraplegia" + "paraplegia, lower" "blood serum homeodomain-only protein amount" "isolated spina bifida (disease)" "nonsyndromic spina bifida (disease)" @@ -169702,9 +169695,9 @@ "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)" @@ -170182,10 +170175,10 @@ "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" @@ -170973,18 +170966,18 @@ "polyp of the rectum" "rectal polyp" "rectum polyp" - "small intestine diverticulitis" "diverticulosis of small intestine with hemorrhage" "diverticulitis of small intestine" + "small intestine diverticulitis" "diverticulosis of small intestine with haemorrhage" "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" @@ -171306,8 +171299,8 @@ "pediatric neoplasm of cerebellum" "childhood cerebellar tumour" "pediatric tumor of the cerebellum" - "paediatric cerebellar neoplasm" "pediatric cerebellar tumor" + "paediatric cerebellar neoplasm" "pediatric tumor of cerebellum" "pediatric neoplasm of the cerebellum" "childhood cerebellar neoplasms" @@ -171410,15 +171403,6 @@ "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" @@ -171435,6 +171419,15 @@ "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" @@ -171768,10 +171761,10 @@ "nonsyndromic brachydactyly" "Niemann Pick Disease Type C" "blood serum polypeptide N-acetylgalactosaminyltransferase 4 amount" - "ectodermal dysplasia-cataracts-kyphoscoliosis syndrome" - "Alves-dos Santos-Castelo syndrome" "Second segment of right coronary artery" "Posterior segment of right coronary artery" + "ectodermal dysplasia-cataracts-kyphoscoliosis syndrome" + "Alves-dos Santos-Castelo syndrome" "caecal appendix" "appendix vermiformis" "appendix" @@ -172022,6 +172015,7 @@ "blast phase chronic myelocytic leukemia" "blastic phase chronic myelogenous leukaemia" "blood serum CD99 molecule-like protein 2 amount" + "benign insulitis" "pseudocoxalgia" "juvenile osteochondrosis of hip and/or pelvis" "Perthe's disease" @@ -172042,7 +172036,6 @@ "Legg Calvé Perthes Disease" "Legg-Calve-Perthes syndrome" "Legg-Calve-Perthes symptom" - "benign insulitis" "BE2C" "BE2_C" "BE(2)-C cell" @@ -172114,8 +172107,8 @@ "adult lymphoma" "lymphoma of adults" "Disease of the joints" - "BEST1-related dominant retinopathy" "blood serum suppressor of fused homolog amount" + "BEST1-related dominant retinopathy" "Woods-Crouchman-Huson syndrome" "Pseudomonas stutzeri strain A1501" "Pseudomonas stutzeri str. A1501" @@ -172227,11 +172220,11 @@ "ventral pharyngeal arch 2 skeleton" "ventral hyoid arch" "ventral visceral arch 2" - "spinocerebellar ataxia type 12" - "SCA12" "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" @@ -172273,9 +172266,9 @@ "lung pecomatous tumor" "lung PEComa" "blood serum sarcoplasmic/endoplasmic reticulum calcium ATPase 3 amount" + "metabolically normal subgroup of obese" "cervical basaloid squamous cell carcinoma" "cervical basaloid carcinoma" - "metabolically normal subgroup of obese" "mental retardation, X-linked syndromic, Raymond type" "intellectual disability, X-linked syndromic, Raymond type" "MRXSR" @@ -172435,14 +172428,14 @@ "paraphimosis" "Paraphimosis (disorder)" "Paraphimosis" - "allergic form of urticaria" - "allergic urticaria (disease)" - "allergic form of urticaria (disease)" - "allergic urticaria" "colleterial gland" "female AcGl" "parovarium" "appendicular gland" + "allergic form of urticaria" + "allergic urticaria (disease)" + "allergic form of urticaria (disease)" + "allergic urticaria" "OPTB" "autosomal recessive osteopetrosis" "osteopetrosis (disease), autosomal recessive" @@ -172564,13 +172557,13 @@ "Escherichia coli B str. Bc251" "Escherichia coli B strain REL606" "Escherichia coli str. B substr. REL606" - "blood serum xylosyltransferase 2 amount" "chromosome 17q11.2 duplication syndrome, 1.4-mb" "trisomy 17q11.2" "dup(17)(q11.2)" "Grisart-Destree syndrome" "Nf1 Microduplication Syndrome" "Grisart-Destrée syndrome" + "blood serum xylosyltransferase 2 amount" "Pitt syndrome" "Wolf-Hirschhorn syndrome" "Wittwer syndrome" @@ -172724,13 +172717,13 @@ "purine ribonucleoside triphosphate formation" "purine ribonucleoside triphosphate anabolism" "blood serum chondroitin sulfate proteoglycan 4 amount" + "broad uterine ligament" "basophilic pituitary gland adenoma" "pituitary gland basophilic adenoma" "pituitary basophilic adenoma" "mucoid cell adenoma" "pituitary gland basophil adenoma" "basophilic adenoma" - "broad uterine ligament" "Single central incisor" "Single midline maxillary incisor" "Single central upper incisor" @@ -172770,8 +172763,8 @@ "blood serum RNA binding protein fox-1 homolog 2 amount" "acrocapitofemoral dysplasia" "colon NET G1" - "colonic carcinoid tumor" "colon neuroendocrine tumor G1" + "colonic carcinoid tumor" "colon carcinoid tumour" "carcinoid tumor of colon" "carcinoid tumour of the colon" @@ -173167,8 +173160,6 @@ "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" @@ -173177,6 +173168,8 @@ "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" @@ -173260,8 +173253,8 @@ "malignant tumor of the CNS" "central nervous system cancer" "malignant neoplasm of central nervous system" - "KYN" "Hereditary thrombophilia due to congenital antithrombin 3 deficiency" + "KYN" "preaxial polydactyly of hand" "painful ophthalmoplegia" "Tolosa Hunt Syndrome" @@ -173475,10 +173468,10 @@ "Balikova-Vermeesch syndrome" "blood serum thrombospondin type-1 domain-containing protein 1 amount" "GM13883 cell" + "dye_swap_design" "vermiform appendix hyperplastic polyp" "appendix hyperplastic polyp" "appendix metaplastic polyp" - "dye_swap_design" "S-prop-2-en-1-yl-L-cysteine" "rice blast fungus" "Pyricularia oryzae" @@ -173537,14 +173530,14 @@ "Tight foreskin (finding)" "Phimosis (disorder) [Ambiguous]" "tight foreskin" - "pulmonary lymphangioleiomyomatosis" - "lung lymphangiomyomatosis" - "lung lymphangioleiomyomatosis" "Pallister ulnar-mammary syndrome" "Schinzel Syndrome" "ulnar-mammary syndrome" "Schinzel syndrome" "ums" + "pulmonary lymphangioleiomyomatosis" + "lung lymphangiomyomatosis" + "lung lymphangioleiomyomatosis" "mandibuloacral dysplasia with type B lipodystrophy" "blood serum protein naked cuticle homolog 2 amount" "blood serum DnaJ homolog subfamily C member 10 amount" @@ -173564,11 +173557,11 @@ "cellular cysteine homeostasis" "cysteine homeostasis" "blood serum disks large homolog 2 amount" - "blood serum ankyrin repeat domain-containing protein 27 amount" "Mendelian susceptibility to atypical mycobacteria" "Idiopathic infection caused by BCG or atypical mycobacteria" "MSMD" "Mendelian susceptibility to mycobacterial infections" + "blood serum ankyrin repeat domain-containing protein 27 amount" "Cochlear Organ" "Cochlea" "cochlear part of bony labyrinth" @@ -173760,6 +173753,10 @@ "partial deletion of chromosome type 11" "Coarse hair" "Coarse hair texture" + "villous adenoma of the appendix" + "vermiform appendix villous adenoma" + "appendix villous adenoma" + "villous adenoma of appendix" "antepartum oligohydramnios" "oligohydramnios (disease)" "oligohydramnios" @@ -173782,10 +173779,6 @@ "cancer of uterus" "cancer of the uterus" "malignant uterine tumour" - "villous adenoma of the appendix" - "vermiform appendix villous adenoma" - "appendix villous adenoma" - "villous adenoma of appendix" "ug/ml" "2-deoxy-2-{[methyl(nitroso)carbamoyl]amino}-alpha-D-glucopyranose" "streptozocin" @@ -174150,8 +174143,6 @@ "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" @@ -174168,6 +174159,8 @@ "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" @@ -174291,10 +174284,10 @@ "Syndactyly - preaxial polydactyly - sternal deformity" "ACRP syndrome" "blood serum versican core protein amount" - "Scoliosis, thoracolumbar" "non-seasonal allergic rhinitis" "perennial allergic rhinitis" "nonseasonal allergic rhinitis" + "Scoliosis, thoracolumbar" "Streptomyces tanaschiensis" "Streptomyces tanaschimachiensis" "Streptomyces tanashiensis Hata et al. 1952" @@ -174507,9 +174500,9 @@ "lumbosacral plexus lesions" "nerve plexus disease of lumbosacral nerve plexus" "lumbosacral nerve plexus nerve plexus disease" - "CE 20:4" "pneumothorax" "pneumothorax (disease)" + "CE 20:4" "Congenital cerebellar hypoplasia" "Small cerebellum" "Hypoplastic cerebellum" @@ -174747,9 +174740,6 @@ "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" @@ -174757,15 +174747,18 @@ "Sphingomonas sp. RW1" "Degos genodermatosis \"en cocardes\"" "Degos genodermatosis" - "familial hypoalphalipoproteinemia" - "familial apoA-I deficiency" - "ApoA-I deficiency" + "kidney inflammation" + "nephritis" + "inflammation of kidney" "dSMA4" "autosomal recessive distal spinal muscular atrophy type 4" "distal spinal muscular atrophy type 4" "autosomal recessive lower motor neuron disease with childhood onset" "neuronopathy, distal hereditary motor, autosomal recessive 4" "spinal muscular atrophy, distal, autosomal recessive, type 4" + "familial hypoalphalipoproteinemia" + "familial apoA-I deficiency" + "ApoA-I deficiency" "Farabee type brachydactyly" "BDA1" "brachydactyly, Farabee type" @@ -174936,13 +174929,13 @@ "Growth retardation as children" "Postnatal growth failure" "Growth delay as children" + "4-(1H-indol-3-yl)butanoic acid" + "indole-3-butyric acid" + "Indole-3-butyric acid" "partial monosomy of chromosome 12q" "partial monosomy of the long arm of chromosome 12" "partial deletion of the long arm of chromosome type 12" "partial deletion of chromosome 12q" - "4-(1H-indol-3-yl)butanoic acid" - "indole-3-butyric acid" - "Indole-3-butyric acid" "external ear fungal infectious disease" "mucopolysaccharidosis" "mucopolysaccharidoses" @@ -176204,13 +176197,13 @@ "Synovitis, Pigmented Villonodular" "Diffuse Giant cell tumor of Tenosynovium" "villous tenosynovitis" + "blood serum Phosphatidylethanolamine (18:0_18:2) amount" "Tiobacillus ferroxidant" "Thiobacillus ferrooxidans@" "Thiobacillus ferrooxidans" "Ferrobacillus sulfooxidans" "Acidithiobacillus ferroxidans" "Ferrobacillus ferrooxidans" - "blood serum Phosphatidylethanolamine (18:0_18:2) amount" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3" "muscle-eye-brain-POMGNT1 related" "TOS - Thoracic outlet syndrome" @@ -177748,9 +177741,9 @@ "adenocarcinoma of the vagina" "vagina adenocarcinoma" "blood serum transmembrane protease serine 11A amount" - "Calver-0" "10X 5' v1" "10x 5' v1" + "Calver-0" "GM17162 cell" "P1 dorTra" "embryonic dorsal trunk" @@ -177864,8 +177857,8 @@ "orbital tumor" "orbit tumor" "neoplasm of orbit" - "tumour of orbit of skull" "orbital neoplasms" + "tumour of orbit of skull" "tumour of orbit" "tumour of the orbit" "orbit tumour" @@ -177930,11 +177923,11 @@ "Paroxysmal Sleep" "narcolepsy type 2" "Sleep, Paroxysmal" - "glucuronate" "Viruses caused labyrinthitis" "Viruses labyrinthitis" "epidemic vertigo (finding)" "epidemic vertigo" + "glucuronate" "K" "blood serum complement C4-B amount" "blood serum pregnancy-specific beta-1-glycoprotein 1 amount" @@ -178529,11 +178522,17 @@ "retina ischaemic disease" "ischaemic disease of retina" "retina ischemic disease" - "trophoblast layer" "pituitary gland apoplexy" "pituitary apoplexy" "Pituitary Apoplexy" "Pituitary apoplexy (disorder)" + "trophoblast layer" + "Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder)" + "Hemorrhagic diathesis of newborn" + "vitamin K deficiency bleeding in newborn" + "hemorrhagic disease of newborn" + "Hemorrhagic disease of newborn" + "Vitamin K Deficiency Bleeding" "Werdnig-Hoffmann Disease" "Werdnig Hoffmann disease" "hereditary motor neuropathy proximal type I" @@ -178549,12 +178548,6 @@ "survival motor neuron spinal muscular atrophy" "spinal muscular atrophy-1" "SMA type I" - "Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder)" - "Hemorrhagic diathesis of newborn" - "vitamin K deficiency bleeding in newborn" - "hemorrhagic disease of newborn" - "Hemorrhagic disease of newborn" - "Vitamin K Deficiency Bleeding" "(2R,3S)-2-(3,4-dihydroxyphenyl)chromane-3,5,7-triol--water (1/1)" "blood serum neuroligin-3 amount" "Bcl11a" @@ -179071,13 +179064,13 @@ "blood serum gamma-soluble NSF attachment protein amount" "ocular myositis" "orbital myositis" + "Jackson-Barr syndrome" + "Homocarnosinase deficiency" + "homocarnosinosis" "Listeria monocytogenes caused infectious meningitis" "Meningitis, Listeria" "Listeria meningitis" "Listeria monocytogenes infectious meningitis" - "Jackson-Barr syndrome" - "Homocarnosinase deficiency" - "homocarnosinosis" "blood serum transmembrane protease serine 11B amount" "non-enzymatic chemical dissociation" "enzyme-free non-mechanical dissociation" @@ -179225,11 +179218,11 @@ "Nephromegaly" "Dilated vestibular aqueduct" "Widened vestibular aqueduct" + "PEX12 related Zellweger spectrum disorder" + "peroxisome biogenesis disorder due to PEX12 defect" "Involuntary writhing movements" "Involuntary writhing movements in fingers, hands, toes, and feet" "Athetoid movements" - "PEX12 related Zellweger spectrum disorder" - "peroxisome biogenesis disorder due to PEX12 defect" "age pancreatic ductal adenocarcinoma symptoms begin" "age at onset of pancreatic ductal adenocarcinoma" "Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature" @@ -179311,7 +179304,6 @@ "Hypercalcinuria" "Elevated urine calcium levels" "blood serum APOBEC1 complementation factor amount" - "body of uterus adenofibroma" "adenofibroma of the corpus uteri" "adenofibroma of corpus uteri" "adenofibroma of the uterine corpus" @@ -179321,6 +179313,7 @@ "adenofibroma of uterine body" "corpus uteri adenofibroma" "uterine body adenofibroma" + "body of uterus adenofibroma" "infantile juvenile polyposis syndrome" "juvenile polyposis syndrome of infancy" "infantile onset juvenile polyposis syndrome" @@ -179559,8 +179552,8 @@ "PRLoma" "prolactin secreting adenoma of the pituitary" "lactotrope adenoma" - "prolactinoma of pituitary gland" "prolactin producing pituitary gland adenoma" + "prolactinoma of pituitary gland" "lactotroph adenoma" "prolactin producing adenoma of the pituitary gland" "prolactin producing pituitary adenoma" @@ -179680,8 +179673,8 @@ "CILD47" "age stroke disorder symptoms begin" "age at onset of stroke disorder" - "Bartholin's gland squamous cell carcinoma" "major vestibular gland squamous cell carcinoma" + "Bartholin's gland squamous cell carcinoma" "bartholin gland squamous cell carcinoma" "Immunodeficiency due to a C5 to C9 component complement deficiency" "Deficiency of complement of terminal pathway" @@ -179834,13 +179827,13 @@ "TPM3 myopathy" "Swiss Webster" "Crl:CFW(SW)" + "T.8SP24int.Th" + "CD24-positive, CD8 single-positive semimature thymocyte" "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" @@ -180000,10 +179993,10 @@ "Lupus Erythematosus, Cutaneous, Subacute" "Lupus Erythematosus, Subacute Cutaneous" "cutaneous lupus erythematosus" + "sarcoma of the mediastinum" "sarcoma of mediastinum" "mediastinum sarcoma" "mediastinal sarcoma" - "sarcoma of the mediastinum" "up-regulation of renin release into blood stream" "positive regulation of renin release into blood stream" "up regulation of renin release into blood stream" @@ -180148,6 +180141,7 @@ "posterior midgut primordium" "postMGP2" "P1 antEndoP" + "anti-EBV antibody measurement" "Congenital disorder of glycosylation type 1L" "Congenital disorder of glycosylation type IL" "Carbohydrate deficient glycoprotein syndrome type IL" @@ -180155,7 +180149,6 @@ "CDG1L" "CDG-IL" "Mannosyltransferase 7-9 deficiency" - "anti-EBV antibody measurement" "1-isothiocyanatonaphthalene" "amelanotic melanoma" "melanoma, amelanotic, malignant" @@ -180371,9 +180364,9 @@ "malignant neoplasm of glottis" "malignant glottis neoplasm" "glottis cancer" - "malignant tumour of the glottis" "malignant tumour of glottis" "malignant glottis tumor" + "malignant tumour of the glottis" "3-(butanoyloxy)-4-(trimethylazaniumyl)butanoate" "acute kidney papillary necrosis" "acute papillary necrosis" @@ -180542,15 +180535,15 @@ "renal-hepatic-pancreatic dysplasia 1" "renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3" "renal-hepatic-pancreatic dysplasia type 1" - "meristematic tissue" - "meristem" - "Increased blood lactate" - "Increased serum lactate" "disorder of hypothalamus" "disease or disorder of hypothalamus" "hypothalamus disease" "disease of hypothalamus" "hypothalamus disease or disorder" + "Increased blood lactate" + "Increased serum lactate" + "meristematic tissue" + "meristem" "EBS-AR KRT14" "blood serum protein EOLA1 (human) amount" "blood serum cyclic nucleotide-gated cation channel beta-1 amount" @@ -180713,9 +180706,9 @@ "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" @@ -180821,9 +180814,8 @@ "acute leukaemia (disease)" "stem cell leukemia (disease)" "acute leukemia (disease)" - 92.1 "leukemoid reaction" - "AxD type II" + 92.1 "secretory otitis Media" "Otitis media with effusion" "Mucoid otitis media" @@ -180837,12 +180829,13 @@ "Glue ear" "Mucoid otitis media NOS (disorder)" "Otitis media with effusion - mucoid" + "AxD type II" + "Richieri-Costa-Gorlin syndrome" "young adult-onset distal hereditary motor neuropathy" "Young adult-onset dHMN" "dSMA5" "autosomal recessive distal spinal muscular atrophy type 5" "spinal muscular atrophy, distal, autosomal recessive, type 5" - "Richieri-Costa-Gorlin syndrome" "dyspraxia" "Apraxias" "blood serum FAD-dependent oxidoreductase domain-containing protein 1 amount" @@ -181204,6 +181197,11 @@ "Increased size of frontal region of face" "Increased size of forehead" "Intellectual disability - hypotonia - facial dysmorphism" + "secondary hyperparathyroidism (disorder)" + "secondary hyperparathyroidism NOS" + "secondary hyperparathyroidism" + "secondary hyperparathyroidism (disease)" + "Hyperparathyroidism, Secondary" "well differentiated liposarcoma" "well differentiated liposarcoma of superficial soft tissue" "atypical lipomatous tumor" @@ -181215,11 +181213,6 @@ "Hyperprolactinemia" "Prolactin excess" "Hyperprolactinaemia" - "secondary hyperparathyroidism (disorder)" - "secondary hyperparathyroidism NOS" - "secondary hyperparathyroidism" - "secondary hyperparathyroidism (disease)" - "Hyperparathyroidism, Secondary" "Pseudouridine" "5-(beta-D-ribofuranosyl)pyrimidine-2,4(1H,3H)-dione" "pseudouridine" @@ -181282,11 +181275,11 @@ "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" @@ -181406,8 +181399,8 @@ "tumor of the parathyroid gland" "tumor of parathyroid gland" "tumour of the parathyroid gland" - "neoplasm of the parathyroid" "tumor of the parathyroid" + "neoplasm of the parathyroid" "neoplasm of parathyroid gland" "bulk RNA barcoding and sequencing" "rare hereditary ataxia" @@ -182970,15 +182963,15 @@ "nematode" "roundworms" "nematodes" + "apparatus respiratorius vein" + "vein of apparatus respiratorius" + "respiratory system vein" + "vein of respiratory system" "LCA8" "CRB1 Leber congenital amaurosis" "Leber congenital amaurosis type 8" "Leber congenital amaurosis 8" "Leber congenital amaurosis caused by mutation in CRB1" - "apparatus respiratorius vein" - "vein of apparatus respiratorius" - "respiratory system vein" - "vein of respiratory system" "RTS2" "poikiloderma of Rothmund-Thomson type 2" "Rothmund-Thomson syndrome, type 2" @@ -183293,10 +183286,10 @@ "carbonyl dichloride" "portion of blood plasma" "blood plasm" - "TAG 50:3" "typhasterol" "(3alpha,5alpha,22R,23R,24S)-3,22,23-trihydroxyergostan-6-one" "SM 22:1" + "TAG 50:3" "GM17107 cell" "uterine smooth muscle" "Human Herpes Virus 8 Infection" @@ -183345,16 +183338,16 @@ "malignant tumor of uterine endocervix" "malignant endocervical tumor" "macrodactyly of hand" - "fetus/embryo hypoxia" - "embryo/fetus hyposia" - "intrauterine hypoxia" - "embryo hypoxia" "blood serum nuclear protein MDM1 amount" "cardiomyopathy, dilated, type 1Hh" "BAG3 familial isolated dilated cardiomyopathy" "CMD1HH" "familial isolated dilated cardiomyopathy caused by mutation in BAG3" "dilated cardiomyopathy type 1HH" + "fetus/embryo hypoxia" + "embryo/fetus hyposia" + "intrauterine hypoxia" + "embryo hypoxia" "age systemic lupus erythematosus symptoms begin" "age at onset of systemic lupus erythematosus" "blood serum protocadherin beta-10 amount" @@ -183573,6 +183566,7 @@ "spinocerebellar ataxia, autosomal recessive type 12" "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX" "autosomal recessive spinocerebellar ataxia 12" + "snRNA-seq" "Prosthesis, Cardiac Valve" "Heart Valve Prosthesis Implantation" "Prostheses, Cardiac Valve" @@ -183586,7 +183580,6 @@ "Implantation, Heart Valve Prosthesis" "Heart Valve Prostheses" "Valve Prostheses, Cardiac" - "snRNA-seq" "Charcot-Marie-Tooth neuropathy type 4A" "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A" "Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1" @@ -183915,8 +183908,8 @@ "(9Z)-tetradec-9-enoate" "Mosaic trisomy type 20" "Mosaic trisomy chromosome 20" - "Allergy" "OVK18" + "Allergy" "tryptophan" "Tryptophan" "Carotid artery thrombosis" @@ -184382,23 +184375,23 @@ "lymphedema, hereditary, type 1C" "lymphedema, hereditary, 1C" "hereditary lymphedema caused by mutation in GJC2" - "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency" - "MSMD due to complete IFNgammaR2 deficiency" - "MSMD due to complete interferon gamma receptor 2 deficiency" "Brugada syndrome caused by mutation in SCN5A" "BRGDA1" "Brugada syndrome 1" "SCN5A Brugada syndrome" "Brugada syndrome type 1" - "Blood/Injury Phobia" - "blood-injury phobia" - "blood phobia" - "Blood-injection-injury type phobia" "mental retardation, autosomal recessive type 38" "intellectual developmental disorder, autosomal recessive 38" "intellectual disability, autosomal recessive type 38" "developmental delay with ASD and gait instability" + "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency" + "MSMD due to complete IFNgammaR2 deficiency" + "MSMD due to complete interferon gamma receptor 2 deficiency" "blood serum pleckstrin homology domain-containing family A member 3 amount" + "Blood/Injury Phobia" + "blood-injury phobia" + "blood phobia" + "Blood-injection-injury type phobia" "Dehalococcoides ethenogenes strain 195" "Dehalococcoides ethenogenes str. 195" "cerebral thrombosis" @@ -184435,8 +184428,8 @@ "disorder of scrotum" "scrotum disease or disorder" "scrotum disease" - "FEV1 change measurement" "alpha ketoglutaric acid" + "FEV1 change measurement" "palatum secundarium" "palatum definitivum" "definitive palate" @@ -184482,8 +184475,8 @@ "autosomal dominant uncomplicated HSP" "lip scc" "squamous cell carcinoma of the Lip" - "scc of Lip" "lip squamous cell carcinoma" + "scc of Lip" "scc of the Lip" "AML, t(1;22)" "SM 24:0" @@ -184500,12 +184493,12 @@ "Nuclei of stria terminalis" "Intercalate nucleus of stria terminalis" "Stria terminalis nucleus" - "PBD-ZSS" - "PBD-ZSD" - "PBD-Zellweger spectrum disorder" "hereditary sensory and autonomic neuropathy type I" "Hereditary Sensory Neuropathy Type I" "HSAN1" + "PBD-ZSS" + "PBD-ZSD" + "PBD-Zellweger spectrum disorder" "iatrogenic Kaposi sarcoma" "iatrogenic Kaposi's sarcoma" "partial monosomy of the long arm of chromosome 2" @@ -184575,10 +184568,10 @@ "hereditary neuropathy with liability to pressure palsies" "Macrothrombozytopenia" "blood 5alpha-pregnane-3beta,20alpha-diol disulfate amount" - "growth differentiation factor 15 levels" "Leishmania (Leishmania) chagasi" "Leishmania infantum chagasi" "Leishmania donovani chagasi" + "growth differentiation factor 15 levels" "HMSN2 with giant axons" "CMT2 with giant axons" "Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons" @@ -184852,9 +184845,9 @@ "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" @@ -185218,6 +185211,7 @@ "Hereditary colorectal endometrial cancer syndrome" "Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" "aortic VSMC proliferation measurement" + "deafness-oligodontia syndrome" "tumor of salivary gland" "saliva-secreting gland tumor" "tumour of the salivary gland" @@ -185233,7 +185227,6 @@ "salivary gland neoplasm" "tumor of saliva-secreting gland" "neoplasm of saliva-secreting gland" - "deafness-oligodontia syndrome" "lymphangioendothelioma" "acquired progressive lymphangioma" "blood serum histone chaperone ASF1B amount" @@ -185785,8 +185778,8 @@ "hip fracture" "Fractures, Trochanteric" "Fractures, Subtrochanteric" - "Fractures, Hip" "Fractures, Intertrochanteric" + "Fractures, Hip" "Hip Fractures" "Genetic heterogeneity" "CYP3A4 enzyme activity. " @@ -186019,15 +186012,15 @@ "mitochondrial complex deficiency caused by mutation in ATP5F1A" "MC5DN4B" "ATP5F1A mitochondrial complex deficiency" + "dysplasia of the colon" + "dysplasia of colon" + "colonic dysplasia" + "colon dysplasia" "CMT1F" "Charcot-Marie-Tooth disease, type 1F" "NEFL Charcot-Marie-Tooth disease type 1" "Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL" "Charcot-Marie-Tooth neuropathy type 1F" - "dysplasia of the colon" - "dysplasia of colon" - "colonic dysplasia" - "colon dysplasia" "(2R)-3-{[(2-aminoethoxy)(hydroxy)phosphoryl]oxy}-2-hydroxypropyl (9Z,12Z)-octadeca-9,12-dienoate" "cloaca" "anal pad" @@ -186490,7 +186483,15 @@ "blood serum asialoglycoprotein receptor 2 amount" "portion of chloronema tissue" "chloronemata" + "major depression" + "major depressive disorder, response to citalopram therapy in" "MDD" + "major depressive disorder and accelerated response to antidepressant drug treatment" + "recurrent major depression" + "single major depressive episode" + "major depressive disorder" + "unipolar depression, susceptibility to" + "unipolar depression" "blood serum protein disulfide-isomerase-like protein of the testis amount" "impaired intellectual development and distinctive facial features with or without cardiac defects" "MRFACD" @@ -186521,12 +186522,12 @@ "ethmoid" "neonatal Canavan disease" "infantile Canavan disease" - "blood serum oxysterol-binding protein-related protein 9 amount" - "threonine" "oral epithelial dysplasia" "oral cavity dysplasia" "premalignant oral lesion" "premalignant oral lesions" + "blood serum oxysterol-binding protein-related protein 9 amount" + "threonine" "tooth agenesis, selective, type 4" "WNT10A tooth agenesis" "tooth agenesis, selective, 4" @@ -186561,13 +186562,6 @@ "cholangitis, chronic" "steel syndrome" "bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome" - "CMT2GG" - "autosomal dominant intermediate Charcot-Marie-Tooth disease type A" - "Charcot-Marie-Tooth disease dominant intermediate type A" - "CMTDIA" - "Charcot-Marie-Tooth neuropathy dominant intermediate A" - "DI-CMTA" - "Charcot-Marie-Tooth disease dominant intermediate A" "Triticum durum subsp. durum" "Triticum rigidum ssp. durum" "durum wheat" @@ -186576,6 +186570,13 @@ "duri wheat" "Triticum rigidum conv. durum" "Triticum rigidum var. durum" + "CMT2GG" + "autosomal dominant intermediate Charcot-Marie-Tooth disease type A" + "Charcot-Marie-Tooth disease dominant intermediate type A" + "CMTDIA" + "Charcot-Marie-Tooth neuropathy dominant intermediate A" + "DI-CMTA" + "Charcot-Marie-Tooth disease dominant intermediate A" "Bruton type agammaglobulinemia" "Bruton-type agammaglobulinemia" "agammaglobulinemia, X-linked 1, X-linked recessive" @@ -187078,13 +187079,13 @@ "colonic aganglionosis" "congenital megacolon" "Hirschsprung's disease" - "acrocraniofacial dysostosis" - "Kaplan-Plauchu-Fitch syndrome" "mucoepidermoid carcinoma of the larynx" "larynx mucoepidermoid carcinoma" "mucoepidermoid carcinoma of larynx" "laryngeal mucoepidermoid carcinoma" "laryngeal throat mucoepidermoid cancer" + "acrocraniofacial dysostosis" + "Kaplan-Plauchu-Fitch syndrome" "Alpha storage pool deficiency" "BDPLT4" "platelet-type bleeding disorder 4" @@ -187214,6 +187215,12 @@ "cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome" "multiple keratoacanthoma, Muir-Torre type" "Muir-Torre syndrome" + "mercurialism" + "Mercury Poisoning, Nervous System" + "mercury poisoning" + "hydrargyria" + "Mercury intoxication" + "nervous system mercury poisoning" "meningioma, benign, no ICD-O subtype (morphologic abnormality)" "meningioma NOS" "meningioma NOS (morphologic abnormality)" @@ -187233,12 +187240,6 @@ "malignant tumor of prostate" "malignant tumour of the prostate" "NGP - new growth of prostate" - "mercurialism" - "Mercury Poisoning, Nervous System" - "mercury poisoning" - "hydrargyria" - "Mercury intoxication" - "nervous system mercury poisoning" "Kopysc-Barczyk-Krol syndrome" "Euhidrotic ectodermal dysplasia" "secreted_protein_identification_design" @@ -187448,9 +187449,9 @@ "Hantavirus disease or disorder" "hantavirus infectious disease" "blood serum calcium-activated potassium channel subunit beta-3 amount" - "Arts syndrome" "aspiration pneumonitis" "blood serum AN1-type zinc finger protein 2B amount" + "Arts syndrome" "malignant supratentorial neoplasm" "brain neoplasm, supratentorial" "malignant supratentorial tumour" @@ -187749,23 +187750,22 @@ "bronchus disease" "blood serum beta-1,4-galactosyltransferase 2 amount" "hand dermatosis" + "blood serum glutamate--cysteine ligase regulatory subunit amount" "Gliocladium flavofuscum" "Trichoderma flavofuscum" "Trichoderma virens" "Gliocladium virens" - "blood serum glutamate--cysteine ligase regulatory subunit amount" "blood serum gem-associated protein 7 amount" + "Anomalie syndromique du développement des yeux" "Methanobrevibacter smithii PS" "Methanobrevibacter smithii strain ATCC 35061" "Methanobrevibacter smithii DSM 861" "Methanobrevibacter smithii str. ATCC 35061" - "Anomalie syndromique du développement des yeux" "isovaleric aciduria" "isovaleric acidemia" "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" @@ -187774,6 +187774,7 @@ "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" "Congenital disorder of glycosylation type Ip" @@ -188364,8 +188365,8 @@ "strongyloidiasis" "Infection by Strongyloides (disorder)" "Strongyloidiasis" - "blood serum ER membrane protein complex subunit 5 amount" "blood serum Phosphatidylcholine (O-18:2_18:1) amount" + "blood serum ER membrane protein complex subunit 5 amount" "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" "Cheesemania enysii" "Pachycladon cheesemanii Heenan & A.D.Mitch." @@ -188382,6 +188383,8 @@ "Genetic 46,XX DSD" "X-linked CDG with intellectual disability as a major feature" "intermediate trophoblast" + "AOA4" + "non-word repetition" "AG06814-J" "AG06814J" "AG06814G" @@ -188410,8 +188413,8 @@ "benign tumor of the gingiva" "benign tumor of the gum" "benign neoplasm of the gum" - "benign neoplasm of gingiva" "benign tumour of gum" + "benign neoplasm of gingiva" "benign gum tumour" "benign gum neoplasm" "benign tumor of gum" @@ -188425,8 +188428,6 @@ "pituitary basophilism" "hypercorticism" "Cushing's syndrome NOS" - "AOA4" - "non-word repetition" "Presenile dementia with bone cyst" "NHD" "PLOSL" @@ -188482,10 +188483,8 @@ "corpora allata" "corpus allatum primordium" "(2S)-2-acetamidobutanedioate" - "T-B+ SCID due to CD45 deficiency" "Rabson-Mendenhall syndrome" "Monteggia's fracture of ulna" - "dental pain" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" "immunodeficiency 27B, mycobacteriosis, AD" "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" @@ -188498,7 +188497,9 @@ "immunodeficiency 27B" "autosomal dominant MSMD due to partial IFNgammaR1 deficiency" "blood serum protocadherin gamma-A12 amount" + "T-B+ SCID due to CD45 deficiency" "AML, t(11;15)(p15;q35)" + "dental pain" "hereditary spastic paraplegia type 48" "SPG48" "hereditary spastic paraplegia caused by mutation in AP5Z1" @@ -189394,6 +189395,7 @@ "benign neoplasm of thyroid glands" "benign tumor of the thyroid gland" "benign tumor of the thyroid" + "Boylan-dew syndrome" "Lactobacillus fermentum subsp. reuteri" "Lactobacilllus reuteri" "Lactobacillus fermentum biotype II" @@ -189406,7 +189408,6 @@ "neuroendocrine tumour G1" "neuroendocrine neoplasm G1" "(5-hydroxy-1H-indol-3-yl)acetic acid" - "Boylan-dew syndrome" "Myhre syndrome" "facial dysmorphism-intellectual disability-short stature-hearing loss syndrome" "N-(3-{3-cyclopropyl-5-[(2-fluoro-4-iodophenyl)amino]-6,8-dimethyl-2,4,7-trioxo-3,4,6,7-tetrahydropyrido[4,3-d]pyrimidin-1(2H)-yl}phenyl)acetamide" @@ -190844,8 +190845,8 @@ "brachial nerve plexus tumour" "brachial nerve plexus neoplasm" "neoplasm of brachial plexus" - "brachial plexus tumour" "tumour of the brachial plexus" + "brachial plexus tumour" "brachial plexus tumor" "dentinogenesis imperfecta Shields type 3" "brandywine type dentinogenesis imperfecta" @@ -190972,6 +190973,7 @@ "scrotum carcinoma" "carcinoma of scrotum" "vitamin B12 transport" + "bonnet macaque" "malignant neoplasm (disease)" "malignant neoplasm" "primary cancer" @@ -190985,7 +190987,6 @@ "organ system cancer" "neoplasm (disease), malignant" "CA" - "bonnet macaque" "severe haemophilia type A" "severe hemophilia type A" "severe factor VIII deficiency" @@ -191193,11 +191194,11 @@ "wound" "Wound" "trauma" - "blood serum heparan sulfate 2-O-sulfotransferase 1 amount" "blood serum transcobalamin-1 amount" "renal cortex" "cortex renalis" "kidney cortex" + "blood serum heparan sulfate 2-O-sulfotransferase 1 amount" "gastrin-producing neuroendocrine tumor" "gastrin secreting tumor" "gastrin-producing NET" @@ -191430,13 +191431,13 @@ "blood serum ADP-ribosylation factor-binding protein GGA3 amount" "blood serum TBC1 domain family member 22B amount" "HHML" - "GM17738 cell" - "autosomal recessive intellectual disability due to TRAPPC9 deficiency" - "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" "Syphilis, Cardiovascular" "syphilitic aortitis" "Syphilitic aortitis (disorder)" "Syphilitic aortitis" + "GM17738 cell" + "autosomal recessive intellectual disability due to TRAPPC9 deficiency" + "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" "primary cutaneous diffuse large B-cell lymphoma, Leg type" "PCDLBCL,LT" "genetic peripheral neuropathy" @@ -191478,8 +191479,8 @@ "chronic kidney failure" "Kidney Insufficiencies, Chronic" "Chronic Renal Failure" - "blood serum Phosphatidylcholine (18:2_0:0) amount" "tadpole stage" + "blood serum Phosphatidylcholine (18:2_0:0) amount" "MCV" "mean cell volume" "urothelial cell" @@ -191954,8 +191955,8 @@ "malignant biphasic mesothelioma" "mesothelioma, biphasic, malignant" "mesothelioma, biphasic, malignant (morphologic abnormality)" - "cortex of lens" "3-fold embryo" + "cortex of lens" "blood serum single-pass membrane and coiled-coil domain-containing protein 2 amount" "skull base meningioma" "basicranium meningioma (disease)" @@ -192103,7 +192104,6 @@ "lower intestine" "distal intestine" "intestinum ileum" - "TAG 52:5" "dipetalonema infectious disease" "infection by Dipetalonema perstans (disorder) [ambiguous]" "Dipetalonema infections" @@ -192121,6 +192121,7 @@ "Dipetalonema infectious disease" "dipetalonemiasis" "infection by Dipetalonema perstans" + "TAG 52:5" "hemolytic-uremic syndrome without diarrhoea with I factor anomaly" "atypical HUS with I factor anomaly" "hemolytic-uremic syndrome without diarrhea with I factor anomaly" @@ -192505,12 +192506,12 @@ "gastric gastrin-producing neuroendocrine tumor" "gastrin-producing neuroendocrine tumor of the stomach" "gastrin-producing neuroendocrine tumour of the stomach" - "alpha" - "alpha mating type (yeast)" - "mating_type_alpha" "Blastocystis infectious disease" "Blastocystis Infections" "Blastocystis infection" + "alpha" + "alpha mating type (yeast)" + "mating_type_alpha" "lactose intolerance (disease)" "LM - lactose malabsorption" "lactose intolerance" @@ -192573,18 +192574,18 @@ "GM17743 cell" "systolic heart failure" "Heart Failure, Systolic" + "ataxia, posterior column, with retinitis pigmentosa" + "PCARP" + "autosomal recessive posterior column ataxia and retinitis pigmentosa" "PEL" "primary Effusion Lymphoma" "primary effusion lymphoma" "body cavity-based lymphoma" - "ataxia, posterior column, with retinitis pigmentosa" - "PCARP" - "autosomal recessive posterior column ataxia and retinitis pigmentosa" "small cell carcinoma of larynx" "laryngeal throat small cell cancer" + "small cell carcinoma of the larynx" "laryngeal small cell carcinoma" "larynx small cell carcinoma" - "small cell carcinoma of the larynx" "Angelman syndrome due to maternal monosomy 15q11q13" "blood serum Phosphatidylcholine (18:2_18:2) amount" "blood serum DnaJ homolog subfamily C member 30, mitochondrial amount" @@ -192679,12 +192680,12 @@ "Hemoglobin C" "Measurement of Hemoglobin C" "HGBC" - "lysophosphatidylcholine 17:0" "OvHV-2" "ovine herpesvirus-2 OHV-2" "OvHV2" "Sheep-associated malignant catarrhal fever virus" "Ovine herpesvirus type 2" + "lysophosphatidylcholine 17:0" "genetic hyperparathyroidism" "megalocornea 1, X-linked, X-linked recessive" "isolated congenital megalocornea" @@ -192956,13 +192957,13 @@ "optic nerve neoplasm" "tumour of the second cranial nerve" "second cranial nerve neoplasms" + "LAAHD" + "congenital arthrogryposis with anterior horn cell disease" + "Vuopala disease" "Persistence of HbF" "Increased haemoglobin F" "Persistence of haemoglobin F" "Increased hemoglobin F" - "LAAHD" - "congenital arthrogryposis with anterior horn cell disease" - "Vuopala disease" "late-onset multiple carboxylase deficiency" "biotinidase deficiency" "juvenile-onset multiple carboxylase deficiency" @@ -192971,8 +192972,8 @@ "Heartwater Disease" "Heartwater (disorder)" "insulin level" - "blood serum cytochrome P450 2C19 amount" "GM17783 cell" + "blood serum cytochrome P450 2C19 amount" "Dup(7)(q11.23)" "Trisomy 7q11.23" "Mehes syndrome" diff --git a/src/ontology/reports/xrefs.tsv b/src/ontology/reports/xrefs.tsv index 5a3bbd05..dc59fb5c 100644 --- a/src/ontology/reports/xrefs.tsv +++ b/src/ontology/reports/xrefs.tsv @@ -152,6 +152,7 @@ "SCTID:92117002" "MEDGEN:87524" "DOID:0080640" + "PMID:33634981" "UMLS:C0346612" "NCIT:C4570" "SCTID:363436001" @@ -162,7 +163,6 @@ "Orphanet:206656" "NANDO:1200496" "GARD:20363" - "PMID:33634981" "NCIt:C258" "SNOMEDCT:255631004" "SCTID:255110003" @@ -512,6 +512,7 @@ "MeSH:C538209" "UMLS:C1861735" "OMIM:117300" + "PMID:35347128" "SNOMEDCT:74732009" "ICD9:307" "SNOMEDCT:192639003" @@ -523,7 +524,6 @@ "DOID:150" "ICD9:307.9" "SNOMEDCT:192637001" - "PMID:35347128" "MedDRA:10013030" "GARD:942" "MONDO:0015260" @@ -556,8 +556,8 @@ "UMLS:C2675440" "DOID:0111349" "PMID:29875488" - "PMID:31396565" "UMLS:C4022661" + "PMID:31396565" "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" @@ -712,6 +712,12 @@ "OMIM:613576" "KUPO:0001002" "SNOMEDCT:409934005" + "UMLS:C1335356" + "MEDGEN:233311" + "MONDO:0006357" + "EFO:1000461" + "NCIT:C5974" + "SCTID:425127006" "DOID:1702" "Orphanet:462" "MEDGEN:609440" @@ -720,12 +726,6 @@ "SCTID:254157005" "UMLS:C0432300" "OMIM:146700" - "UMLS:C1335356" - "MEDGEN:233311" - "MONDO:0006357" - "EFO:1000461" - "NCIT:C5974" - "SCTID:425127006" "PMID:24816252" "MedDRA:10001843" "OMIM:301050" @@ -1428,9 +1428,9 @@ "Wikipedia:Epithelium" "UMLS:C0014609" "FBbt:00007005" - "ZFA:0001486" "SCTID:31610004" "EHDAA2:0003066" + "ZFA:0001486" "MA:0003060" "CALOHA:TS-0288" "VHOG:0000387" @@ -2048,9 +2048,9 @@ "SCTID:733115009" "GARD:12405" "PMID:32641083" + "PMID:24816252" "SNOMEDCT:370135005" "SNOMEDCT:308489006" - "PMID:24816252" "UMLS:C0796430" "DOID:3542" "MEDGEN:163268" @@ -2399,6 +2399,9 @@ "NCIT:C37266" "MONDO:0006111" "PMID:35347128" + "NCIT:C40427" + "UMLS:C0334090" + "MEDGEN:83108" "SCTID:46206005" "NCIt:C92200" "MONDO:0005371" @@ -2413,9 +2416,6 @@ "DOID:3324" "MESH:D019964" "NCIT:C92200" - "NCIT:C40427" - "UMLS:C0334090" - "MEDGEN:83108" "PMID:31530798" "RRID:CVCL_U281" "CLO:0021582" @@ -2825,7 +2825,6 @@ "UMLS:C0270763" "Orphanet:98505" "PMID:34610981" - "NCIt:C4650" "UMLS:C0432291" "Orphanet:2457" "MEDGEN:98485" @@ -2834,6 +2833,7 @@ "DOID:0081127" "OMIMPS:248370" "PMID:36168886" + "NCIt:C4650" "Wikipedia:Dysphoria" "OAE:0001946" "MedDRA:10013954" @@ -3271,9 +3271,6 @@ "OMIM:618841" "OMIM:615270" "OMIM:614838" - "ICD10:E77.1" - "OMIM:256550" - "OMIM:256150" "ICD9:277.6" "UMLS:C0878682" "MEDGEN:168057" @@ -3286,6 +3283,9 @@ "DOID:0050711" "NANDO:1200540" "PMID:29545511" + "ICD10:E77.1" + "OMIM:256550" + "OMIM:256150" "MEDGEN:9822" "OMIM:610448" "GARD:18493" @@ -3317,13 +3317,13 @@ "UMLS:C0020580" "SNOMEDCT_US:59073000" "SNOMEDCT_US:398026008" - "PMID:29875488" "MONDO:0005876" "UMLS:C0969753" "MESH:D030341" "MeSH:D030341" "MEDGEN:197455" "DOID:2949" + "PMID:29875488" "GARD:20138" "DECIPHER:14" "Orphanet:177901" @@ -3540,8 +3540,8 @@ "PMID:28240269" "OMIM:192315" "PMID:29875488" - "PMID:31530798" "ZFA:0000765" + "PMID:31530798" "UMLS:C0410702" "MONDO:0005488" "Orphanet:3153" @@ -3579,8 +3579,8 @@ "SCTID:63339007" "UMLS:C0007867" "MESH:D002577" - "MEDGEN:2970" "NCIT:C40241" + "MEDGEN:2970" "DOID:2253" "SNOMEDCT_US:248072009" "UMLS:C0424375" @@ -3647,6 +3647,9 @@ "MONDO:0005878" "MESH:D015827" "DOID:11680" + "UMLS:C1857588" + "OMIM:204110" + "MeSH:C536604" "PMID:29875488" "UMLS:C0085859" "NANDO:2200738" @@ -3660,9 +3663,6 @@ "ICD9:258.8" "GARD:8466" "Orphanet:3453" - "UMLS:C1857588" - "OMIM:204110" - "MeSH:C536604" "PMID:37253714" "UMLS:C0406612" "GARD:2108" @@ -3726,8 +3726,8 @@ "CLO:0008738" "DOID:0080639" "UMLS:C1704327" - "GARD:20547" "ICD9:170.9" + "GARD:20547" "SCTID:448710000" "Orphanet:223727" "MEDGEN:352831" @@ -4212,8 +4212,8 @@ "PMID:27193062" "NCIT:C40130" "MEDGEN:274487" - "DOID:5324" "UMLS:C1517114" + "DOID:5324" "GARD:2523" "MESH:C564214" "SCTID:716024001" @@ -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" @@ -4879,18 +4879,18 @@ "OMIM:608156" "SCTID:719664004" "PMID:33634981" - "Orphanet:289103" - "UMLS:C4302195" - "MEDGEN:927864" - "SCTID:722947004" - "GARD:21133" - "NCIT:C131421" "NCIT:C6177" "EFO:1000127" "MONDO:0006112" "UMLS:C1336891" "MEDGEN:237036" "ONCOTREE:IMTB" + "Orphanet:289103" + "UMLS:C4302195" + "MEDGEN:927864" + "SCTID:722947004" + "GARD:21133" + "NCIT:C131421" "PMID:31530798" "PMID:17336832" "PPDB:1310" @@ -5057,7 +5057,6 @@ "UMLS:C1518691" "DOID:6232" "MEDGEN:274086" - "PMID:28240269" "PMID:16043043" "CAS:876-02-8" "Reaxys:2041839" @@ -5067,6 +5066,7 @@ "PMID:24380282" "PMID:32731414" "PMID:35644430" + "PMID:28240269" "PMID:28240269" "CMO:0000033" "NCIt:C64550" @@ -5103,8 +5103,8 @@ "MEDGEN:2735" "UMLS:C0006264" "HP:0030077" - "MedDRA:10052245" "NANDO:2200081" + "MedDRA:10052245" "MeSH:D001984" "SCTID:126705004" "MO:914" @@ -5141,13 +5141,13 @@ "NCIt:C42561" "SNOMEDCT:432194007" "PMID:33634981" - "PMID:33067605" "MEDGEN:909607" "GARD:10168" "Orphanet:220493" "SCTID:716998009" "ICD10CM:H35.5" "UMLS:C4274118" + "PMID:33067605" "SNOMEDCT:449783002" "MeSH:D031368" "NCIt:C72273" @@ -5209,27 +5209,27 @@ "MEDGEN:1647391" "Orphanet:59135" "OMIM:160500" - "OMIM:300615" - "ICD10:E70.8" - "PMID:29875488" "PMID:35347128" + "PMID:29875488" "MEDGEN:414541" "Orphanet:217023" "GARD:18556" "UMLS:C2752036" "OMIM:612926" + "OMIM:300615" + "ICD10:E70.8" "MEDGEN:413053" "OMIM:146550" "MESH:C567718" "UMLS:C2750815" "DOID:0110701" "GARD:15078" - "PMID:24816252" "OMIM:212350" "OMIM:615418" "UMLS:C1859317" "ICD10:Q87.8" "MeSH:C538280" + "PMID:24816252" "PMID:37253714" "PMID:29875488" "PMID:30753327" @@ -5267,13 +5267,13 @@ "SCTID:720506002" "UMLS:C3806275" "Orphanet:363396" + "PMID:36168886" "UMLS:C0271633" "ICD9:251" "MEDGEN:124407" "DOID:1428" "SCTID:17346000" "NCIT:C27067" - "PMID:36168886" "NANDO:1200565" "Orphanet:268973" "GARD:20984" @@ -6054,11 +6054,11 @@ "NCIT:C5619" "MEDGEN:277574" "PMID:24816252" - "PMID:29875488" "UM-BBD_reactionID:r0209" "EC:1.8.3.4" "RHEA:11812" "MetaCyc:METHANETHIOL-OXIDASE-RXN" + "PMID:29875488" "PMID:24816252" "GARD:20994" "Orphanet:269215" @@ -6126,9 +6126,6 @@ "MESH:C535528" "SNOMEDCT_US:710234009" "UMLS:C0264169" - "UMLS:C0013144" - "SNOMEDCT_US:271782001" - "SNOMEDCT_US:79519003" "XAO:0000131" "SAEL:58" "BTO:0000706" @@ -6139,6 +6136,9 @@ "MAT:0000046" "TGMA:0001020" "EV:0100077" + "UMLS:C0013144" + "SNOMEDCT_US:271782001" + "SNOMEDCT_US:79519003" "Wikipedia:Vacuole" "NCIt:C13284" "Orphanet:1006" @@ -6173,10 +6173,11 @@ "Orphanet:231720" "ICD10:Q99.8" "OMIM:300869" + "PMID:32602732" "PMID:23823483" "FBbt:00005508" "VFB:FBbt_00005508" - "PMID:32602732" + "PMID:23823483" "NCIT:C12664" "MESH:D034841" "GAID:17" @@ -6188,7 +6189,6 @@ "MA:0003057" "galen:AbdominalCavity" "EMAPA:36505" - "PMID:23823483" "UMLS:C1849538" "UMLS:C0024198" "MEDGEN:44213" @@ -7313,14 +7313,14 @@ "EMAPA:16271" "EMAPA_RETIRED:16271" "EHDAA2:0000735" - "MEDGEN:1826085" - "GARD:17074" - "UMLS:C5680509" - "Orphanet:177907" "PMID:16567086" "MetaCyc:CPD-8117" "PMID:17513402" "PMID:15513825" + "MEDGEN:1826085" + "GARD:17074" + "UMLS:C5680509" + "Orphanet:177907" "DOID:10011" "UMLS:C1336753" "NCIT:C5265" @@ -7588,6 +7588,9 @@ "SCTID:609618002" "PMID:34128465" "PMID:28240269" + "NCIt:C41009" + "NCIT:C41009" + "MONDO:0021125" "BTO:0000671" "UMLS:C0022646" "MIAA:0000119" @@ -7599,9 +7602,6 @@ "GAID:423" "MAT:0000119" "AAO:0000250" - "NCIt:C41009" - "NCIT:C41009" - "MONDO:0021125" "PMID:35347128" "SNOMEDCT_US:22253000" "UMLS:C0030193" @@ -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" @@ -8053,8 +8053,8 @@ "Beilstein:3651747" "CAS:73-97-2" "ZFS:0000041" - "PMID:28240269" "PMID:24816252" + "PMID:28240269" "PMID:28115739" "MEDGEN:1674605" "SCTID:239872002" @@ -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" @@ -8489,11 +8489,6 @@ "PMID:19386619" "FMA:24901" "FMA:83517" - "UMLS:C0019202" - "ICD10:E83.0" - "MeSH:D006527" - "MedDRA:10019819" - "OMIM:277900" "ICD10:E77.8" "OMIM:608540" "PMID:29875488" @@ -8505,6 +8500,11 @@ "MEDGEN:462244" "SCTID:764440006" "Orphanet:357001" + "UMLS:C0019202" + "ICD10:E83.0" + "MeSH:D006527" + "MedDRA:10019819" + "OMIM:277900" "BTO:0005773" "CLO:0009988" "RRID:CVCL_2956" @@ -8996,14 +8996,12 @@ "MESH:C567171" "SCTID:766992008" "GARD:3818" - "PMID:36168886" "DOID:4908" "SCTID:448315008" "MEDGEN:76006" "NCIT:C9291" "UMLS:C0279637" - "GARD:21284" - "Orphanet:307055" + "PMID:36168886" "MEDGEN:87618" "GARD:5847" "NANDO:2100055" @@ -9016,6 +9014,8 @@ "MedDRA:10058093" "MESH:D019571" "NCIT:C84571" + "GARD:21284" + "Orphanet:307055" "SNOMEDCT:15352003" "CAS:969-33-5" "NCIt:C28949" @@ -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" @@ -9920,13 +9920,13 @@ "MEDGEN:904740" "GARD:17888" "UMLS:C4225233" - "PMID:35347128" - "MeSH:Q000472" "NCIT:C96477" "EFO:1000504" "MEDGEN:474437" "UMLS:C3272804" "MONDO:0006394" + "PMID:35347128" + "MeSH:Q000472" "SCTID:49601007" "MONDO:0004995" "MEDGEN:2848" @@ -10821,13 +10821,13 @@ "ICD9:341.20" "GARD:19913" "PMID:29875488" + "PMID:23823483" "GARD:15244" "OMIM:277470" "MEDGEN:376379" "MESH:C564738" "DOID:0060267" "UMLS:C1848526" - "PMID:23823483" "Orphanet:166084" "UMLS:C1282968" "SCTID:359714009" @@ -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" @@ -10956,11 +10956,6 @@ "UMLS:C0729346" "NCIt:C35313" "MedDRA:10023259" - "ICD9:995.91" - "SNOMEDCT:91302008" - "NCIt:C3364" - "NCIt:C111915" - "MeSH:D018805" "Orphanet:611" "MedDRA:10066407" "NCIT:C84786" @@ -10978,6 +10973,11 @@ "OMIM:147421" "NORD:1734" "ICD9:729.1" + "ICD9:995.91" + "SNOMEDCT:91302008" + "NCIt:C3364" + "NCIt:C111915" + "MeSH:D018805" "galen:MajorSalivaryGland" "MA:0002478" "SCTID:303049006" @@ -11394,9 +11394,9 @@ "MONDO:0006687" "icd11.foundation:618998878" "SCTID:399165002" - "PMID:28240269" "ZFA:0009236" "FMA:84799" + "PMID:28240269" "NCIt:C16397" "OMIM:613752" "ICD10:E72.1" @@ -11539,14 +11539,6 @@ "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" @@ -11561,6 +11553,14 @@ "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" @@ -12022,11 +12022,20 @@ "RRID:CVCL_0481" "PMID:29875488" "PMID:35347128" + "UMLS:C3554576" + "GARD:17528" + "Orphanet:352712" + "OMIM:615139" + "MEDGEN:767490" "ICD10:Q87.8" "UMLS:C0265248" "OMIM:180870" "KEGG COMPOUND:C00322" "HMDB:0000225" + "OMIM:618850" + "MEDGEN:1719306" + "UMLS:C5394277" + "DOID:0060950" "MONDO:0005665" "MEDGEN:87660" "UMLS:C0376175" @@ -12040,17 +12049,8 @@ "NCIT:C26769" "MedDRA:10016060" "ICD10CM:G51.0" - "UMLS:C3554576" - "GARD:17528" - "Orphanet:352712" - "OMIM:615139" - "MEDGEN:767490" "SNOMEDCT_US:70992005" "UMLS:C0152252" - "OMIM:618850" - "MEDGEN:1719306" - "UMLS:C5394277" - "DOID:0060950" "PMID:29875488" "MAT:0000343" "XAO:0000209" @@ -12465,6 +12465,15 @@ "CiteXplore:21593570" "KEGG:D08998" "ChEMBL:200479" + "Reaxys:2212160" + "Gmelin:51559" + "Drug_Central:4508" + "LINCS:LSM-4958" + "CAS:329-65-7" + "PMID:24252294" + "PMID:24719616" + "PMID:10052027" + "Beilstein:2212160" "PMID:22263916" "PMID:21908494" "PMID:18273418" @@ -12552,15 +12561,6 @@ "PMID:17874333" "PMID:14978354" "PMID:22283559" - "Reaxys:2212160" - "Gmelin:51559" - "Drug_Central:4508" - "LINCS:LSM-4958" - "CAS:329-65-7" - "PMID:24252294" - "PMID:24719616" - "PMID:10052027" - "Beilstein:2212160" "ICD10:Q82.8" "NCIt:C17204" "EHDAA:2969" @@ -12627,6 +12627,8 @@ "MESH:D005064" "OMIM:261800" "ICD10:Q87.0" + "UMLS:C1837397" + "UMLS:C1854919" "ICD9:062.0" "Orphanet:79139" "MeSH:D004672" @@ -12642,8 +12644,6 @@ "GARD:6797" "icd11.foundation:961032639" "SCTID:52947006" - "UMLS:C1837397" - "UMLS:C1854919" "UMLS:C4521564" "MEDGEN:1621245" "OMIM:617784" @@ -12983,8 +12983,8 @@ "ICD9:728.3" "DOID:423" "MedDRA:10028641" - "SCTID:129565002" "ICD9:359.9" + "SCTID:129565002" "NCIT:C101216" "SCTID:75047002" "ICD9:359.8" @@ -13173,6 +13173,26 @@ "OMIM:271320" "ICD10:G11.8" "PMID:23823483" + "ICD9:361.9" + "MedDRA:10038848" + "OMIM:180050" + "MONDO:0008375" + "MESH:D012163" + "ICD9:362.40" + "ICD9CM:361.9" + "MEDGEN:19759" + "SNOMEDCT:42059000" + "SNOMEDCT:155103005" + "SCTID:42059000" + "ICD10:H33" + "NCIT:C26874" + "ICD9:361.89" + "MeSH:D012163" + "DOID:5327" + "UMLS:C0035305" + "OMIM:312530" + "NCIt:C26874" + "SNOMEDCT:193347002" "SNOMEDCT:79511000" "MeSH:D002024" "FMA:3932" @@ -13195,26 +13215,6 @@ "Reaxys:471803" "Gmelin:3397" "KEGG:C00108" - "ICD9:361.9" - "MedDRA:10038848" - "OMIM:180050" - "MONDO:0008375" - "MESH:D012163" - "ICD9:362.40" - "ICD9CM:361.9" - "MEDGEN:19759" - "SNOMEDCT:42059000" - "SNOMEDCT:155103005" - "SCTID:42059000" - "ICD10:H33" - "NCIT:C26874" - "ICD9:361.89" - "MeSH:D012163" - "DOID:5327" - "UMLS:C0035305" - "OMIM:312530" - "NCIt:C26874" - "SNOMEDCT:193347002" "NCIt:C74806" "PMID:28369058" "PMID:29875488" @@ -13292,6 +13292,10 @@ "PMID:34503513" "OMIM:613985" "SCDO:0000251" + "UMLS:C0268248" + "Orphanet:99022" + "SCTID:73399005" + "MEDGEN:82781" "MESH:D014471" "CALOHA:TS-1082" "EHDAA:1034" @@ -13312,10 +13316,6 @@ "UMLS:C0553706" "UMLS:C0085681" "SNOMEDCT_US:20165001" - "UMLS:C0268248" - "Orphanet:99022" - "SCTID:73399005" - "MEDGEN:82781" "PMID:15198722" "LINCS:LSM-19988" "PMID:11165716" @@ -13485,8 +13485,8 @@ "ICD10:Q03.1" "OMIM:264475" "ICD10:Q87.0" - "PMID:37164013" "ICD10:Q87.8" + "PMID:37164013" "UMLS:C1843496" "UMLS:C4280421" "UMLS:C4280422" @@ -14629,8 +14629,6 @@ "ICD10:Q87.8" "UMLS:C1855904" "OMIM:239710" - "ICD10:G71.0" - "OMIM:603689" "OMIM:235255" "GARD:4157" "DOID:0110943" @@ -14638,6 +14636,8 @@ "MESH:C536059" "UMLS:C1850126" "MEDGEN:342420" + "ICD10:G71.0" + "OMIM:603689" "PMID:29875488" "UMLS:C3280282" "GARD:13686" @@ -14795,13 +14795,13 @@ "MEDGEN:98290" "UMLS:C0393808" "OMIM:302800" - "HMDB:0030527" "MESH:C566168" "MEDGEN:396236" "UMLS:C1861861" "DOID:0111425" "OMIM:115210" "GARD:18070" + "HMDB:0030527" "GARD:22029" "UMLS:C5574677" "MEDGEN:1805033" @@ -14845,8 +14845,8 @@ "SNOMEDCT:237722004" "SCTID:237722004" "NCIT:C84686" - "MESH:D004652" "UMLS:C0014008" + "MESH:D004652" "DOID:3642" "MONDO:0006740" "NCIt:C84686" @@ -14878,7 +14878,6 @@ "UMLS:C0024591" "SNOMEDCT_US:405501007" "SNOMEDCT_US:213026003" - "PMID:33634981" "MESH:D015837" "ICD10:H81" "UMLS:C0042594" @@ -14905,6 +14904,7 @@ "EHDAA2:0003454" "FMA:73748" "EMAPA:35501" + "PMID:33634981" "Orphanet:289527" "MeSH:D014665" "SNOMEDCT:372787008" @@ -14999,8 +14999,8 @@ "CALOHA:TS-0075" "AAO:0011019" "VHOG:0000212" - "TAO:0001100" "EV:0100091" + "TAO:0001100" "UMLS:C0005400" "FMA:9706" "SNOMEDCT_US:77507001" @@ -15106,17 +15106,17 @@ "OMIM:254100" "MESH:C564983" "UMLS:C1850840" - "DOID:0111238" - "UMLS:C3809042" - "MEDGEN:815372" - "GARD:15938" - "OMIM:615287" "MEDGEN:461506" "Orphanet:137631" "OMIM:611926" "UMLS:C3150156" "GARD:16947" "SCTID:721977007" + "DOID:0111238" + "UMLS:C3809042" + "MEDGEN:815372" + "GARD:15938" + "OMIM:615287" "EC:3.2.1.46" "MetaCyc:GALACTOSYLCERAMIDASE-RXN" "Reactome:R-HSA-1606564" @@ -15153,15 +15153,15 @@ "MedDRA:10008803" "ICD9:117.2" "Orphanet:182" + "CAS:721-90-4" + "Reaxys:2218143" + "HMDB:HMDB0028995" "DOID:0080145" "MEDGEN:75996" "MONDO:0000871" "NCIT:C7953" "EFO:1001947" "UMLS:C0279583" - "CAS:721-90-4" - "Reaxys:2218143" - "HMDB:HMDB0028995" "GARD:9519" "DOID:0080767" "MEDGEN:299070" @@ -15262,9 +15262,9 @@ "MESH:D012213" "Orphanet:3099" "SCTID:58718002" - "PMID:28240269" "GARD:19914" "Orphanet:139423" + "PMID:28240269" "UMLS:C1853202" "OMIM:610297" "MESH:C565204" @@ -15685,11 +15685,6 @@ "icd11.foundation:1200845933" "FMA:84789" "ZFA:0009020" - "ICD10:K68.12" - "MeSH:D016659" - "MedDRA:10056517" - "ICD9:567.31" - "SNOMEDCT:266463007" "MESH:C535653" "MONDO:0007047" "Orphanet:38" @@ -15698,6 +15693,11 @@ "DOID:0060362" "GARD:125" "OMIM:101850" + "ICD10:K68.12" + "MeSH:D016659" + "MedDRA:10056517" + "ICD9:567.31" + "SNOMEDCT:266463007" "PMID:29875488" "KEGG:C05584" "BAMS:OL" @@ -15807,6 +15807,10 @@ "CAS:11116-31-7" "Gmelin:1667354" "SNOMEDCT:113678002" + "DOID:3296" + "MeSH:D004482" + "MESH:D004482" + "MONDO:0005809" "NANDO:2200937" "NCIt:C2951" "ICD9:571.5" @@ -15823,10 +15827,6 @@ "MONDO:0005155" "MedDRA:10009213" "SCTID:19943007" - "DOID:3296" - "MeSH:D004482" - "MESH:D004482" - "MONDO:0005809" "UMLS:C0406659" "MEDGEN:590585" "ICD9:701.8" @@ -15991,6 +15991,7 @@ "RRID:CVCL_1361" "CLO:0007189" "PMID:29875488" + "PMID:35995766" "NCIT:C94408" "ICD9:704.8" "DOID:4409" @@ -16002,7 +16003,6 @@ "MedDRA:10016936" "MESH:D005499" "MONDO:0006552" - "PMID:35995766" "Wikipedia:Menopause" "UMLS:C4305579" "SCTID:717286002" @@ -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" @@ -16673,12 +16673,12 @@ "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" @@ -17455,19 +17455,19 @@ "Orphanet:641361" "MEDGEN:1794215" "FBbt:00005670" - "MONDO:0006603" - "DOID:2053" - "MEDGEN:235529" - "NCIT:C27549" - "UMLS:C1335666" + "Wikipedia:Diastasis_symphysis_pubis" + "MeSH:D046548" "Orphanet:289365" "SCTID:763716008" "MEDGEN:1637583" "OMIMPS:193000" "GARD:17323" "UMLS:C4706552" - "Wikipedia:Diastasis_symphysis_pubis" - "MeSH:D046548" + "MONDO:0006603" + "DOID:2053" + "MEDGEN:235529" + "NCIT:C27549" + "UMLS:C1335666" "PMID:29875488" "SCTID:254959007" "MEDGEN:391700" @@ -17569,6 +17569,7 @@ "OMIM:619573" "UMLS:C5562070" "MEDGEN:1794280" + "PMID:29875488" "SCTID:58795000" "NCIT:C84675" "UMLS:C0751336" @@ -17579,7 +17580,6 @@ "DOID:11720" "MEDGEN:155541" "Orphanet:599" - "PMID:29875488" "PMID:35347128" "DOID:0050888" "UMLS:C5680525" @@ -17885,7 +17885,6 @@ "Orphanet:307067" "GARD:12827" "Orphanet:69735" - "PMID:29875488" "MedDRA:10015035" "MESH:D017036" "MEDGEN:39303" @@ -17899,6 +17898,7 @@ "DOID:11349" "UMLS:C0085543" "SNOMEDCT:241006" + "PMID:29875488" "NORD:1990" "GARD:13737" "DOID:0110803" @@ -17941,8 +17941,6 @@ "Reactome:R-HSA-1222376" "Reactome:R-HSA-6807557" "Wikipedia:Chloroplast_membrane" - "OMIM:606407" - "ICD10:E72.0" "ICD10:C16.1" "ICD10:C16.4" "DOID:5516" @@ -17960,6 +17958,8 @@ "ICD10:C16.3" "UMLS:C1333789" "ICD10:C16.2" + "OMIM:606407" + "ICD10:E72.0" "DOID:7689" "MEDGEN:235139" "UMLS:C1384416" @@ -18791,8 +18791,8 @@ "SAEL:93" "BTO:0001277" "NCIt:C13277" - "MeSH:D012661" "FBbt:00004954" + "MeSH:D012661" "FMA:67338" "WBbt:0006798" "MA:0002765" @@ -18937,6 +18937,13 @@ "SNOMEDCT:309842008" "UMLS:C2267233" "SNOMEDCT_US:205294008" + "GARD:16674" + "Orphanet:66637" + "OMIM:608022" + "MEDGEN:374993" + "MESH:C564305" + "SCTID:721094006" + "UMLS:C1842691" "HP:0011779" "ICD10:C73" "MESH:D065646" @@ -18953,13 +18960,6 @@ "SCTID:255031003" "GARD:0000664" "Orphanet:142" - "GARD:16674" - "Orphanet:66637" - "OMIM:608022" - "MEDGEN:374993" - "MESH:C564305" - "SCTID:721094006" - "UMLS:C1842691" "UMLS:C1273957" "SNOMEDCT_US:394680009" "PMID:35347128" @@ -19244,9 +19244,9 @@ "OMIM:610938" "OMIM:617347" "ICD10:I25" - "PMID:29875488" "UMLS:C4280652" "UMLS:C1853737" + "PMID:29875488" "GARD:17579" "UMLS:C2750787" "OMIM:613195" @@ -19333,11 +19333,12 @@ "MESH:D061387" "SCTID:233609002" "PMID:35347128" - "PMID:23823483" "NCIT:C128405" "UMLS:C0276139" "SCTID:70189005" "MEDGEN:547113" + "PMID:23823483" + "Germplasm:4640315" "UMLS:C5551334" "ICD9:127.3" "DOID:1252" @@ -19349,7 +19350,6 @@ "MESH:D014257" "NCIT:C128399" "MedDRA:10044630" - "Germplasm:4640315" "OMIM:613090" "OMIM:241200" "ICD10:E26.8" @@ -19447,14 +19447,14 @@ "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:25326703" "RRID:CVCL_2195" @@ -19567,14 +19567,14 @@ "PDBeChem:GYP" "PMID:1812543" "GAZ:00002845" - "OMIM:619131" - "UMLS:C5436875" - "MEDGEN:1723598" - "DOID:0112201" "GARD:21717" "UMLS:C4751506" "MEDGEN:1650412" "Orphanet:404451" + "OMIM:619131" + "UMLS:C5436875" + "MEDGEN:1723598" + "DOID:0112201" "UMLS:C1334659" "NCIT:C6598" "DOID:5123" @@ -19600,11 +19600,11 @@ "Orphanet:139444" "DOID:0060088" "Orphanet:295205" - "PMID:29875488" "PMID:28240269" "UMLS:C1853383" "UMLS:C1839767" "UMLS:C1850072" + "PMID:29875488" "OMIMPS:601678" "Orphanet:112" "ICD9:255.13" @@ -19917,8 +19917,8 @@ "MEDGEN:233391" "NCIT:C5549" "UMLS:C1335683" - "CLO:0003650" "RRID:CVCL_1261" + "CLO:0003650" "FMA:84664" "SNOMEDCT:337915000" "NCIt:C14366" @@ -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" @@ -20727,8 +20727,8 @@ "ICD9:521.08" "MeSH:D017213" "DOID:14089" - "RRID:CVCL_1381" "NCIt:C117181" + "RRID:CVCL_1381" "BTO:0004151" "SCTID:240372001" "MONDO:0005725" @@ -21000,7 +21000,6 @@ "LIPID_MAPS_instance:LMST01030097" "KNApSAcK:C00003647" "PMID:29875488" - "PMID:29875488" "OMIM:613204" "MESH:C567709" "GARD:12587" @@ -21008,6 +21007,7 @@ "Orphanet:34520" "DOID:0110639" "UMLS:C2750786" + "PMID:29875488" "UMLS:C0280623" "NCIT:C42080" "MEDGEN:76132" @@ -21149,7 +21149,6 @@ "MEDGEN:82704" "NANDO:2201367" "GARD:4612" - "https://orcid.org/0000-0002-9903-4248" "NORD:1430" "MedDRA:10060908" "OMIM:309350" @@ -21160,6 +21159,7 @@ "DOID:0111788" "Orphanet:2484" "SCTID:13449007" + "https://orcid.org/0000-0002-9903-4248" "CALOHA:TS-1040" "FMA:72208" "UMLS:C0206701" @@ -21174,13 +21174,13 @@ "RRID:CVCL_1724" "BTO:0001535" "CLO:0009216" + "NCIt:C76376" + "SNOMEDCT:113669008" + "MeSH:D016956" "OMIM:615419" "UMLS:C3809454" "GARD:18457" "MEDGEN:815784" - "NCIt:C76376" - "SNOMEDCT:113669008" - "MeSH:D016956" "EMAPA:17532" "EHDAA:5433" "NIFSTD:birnlex_1710" @@ -21242,7 +21242,6 @@ "MEDGEN:220874" "DOID:6322" "UMLS:C1273017" - "PMID:23696157" "SNOMEDCT:35400008" "NCIt:C84764" "MONDO:0021001" @@ -21266,6 +21265,7 @@ "SNOMEDCT:61889003" "BTO:0002274" "MeSH:D017173" + "PMID:23696157" "PMID:34610981" "MEDGEN:332391" "UMLS:C1837213" @@ -21417,10 +21417,10 @@ "ICD9:227.8" "NCIT:C4621" "SCTID:92085000" + "PMID:35347128" "SNOMEDCT_US:108367008" "SNOMEDCT_US:87642003" "UMLS:C0012691" - "PMID:35347128" "GARD:18919" "MEDGEN:929239" "UMLS:C4303570" @@ -21570,6 +21570,7 @@ "MESH:D010468" "UMLS:C0030975" "PMID:33441150" + "Wikipedia:Pollination" "GARD:0006969" "NCIT:C4337" "icd11.foundation:1804127841" @@ -21589,7 +21590,6 @@ "SCTID:443487006" "Orphanet:52416" "ICD9:200.40" - "Wikipedia:Pollination" "UMLS:C1850268" "OMIM:258840" "GARD:8432" @@ -21916,13 +21916,6 @@ "MONDO:0006509" "NCIT:C2927" "UMLS:C0007133" - "NCIT:C77641" - "EMAPA:35561" - "UMLS:C0229792" - "MA:0002829" - "FMA:12795" - "BTO:0000767" - "Wikipedia:Mesenteric_lymph_nodes" "UMLS:C0270984" "Orphanet:98486" "ICD9:359.89" @@ -21931,6 +21924,13 @@ "MedDRA:10068836" "SCTID:26111005" "MEDGEN:452364" + "NCIT:C77641" + "EMAPA:35561" + "UMLS:C0229792" + "MA:0002829" + "FMA:12795" + "BTO:0000767" + "Wikipedia:Mesenteric_lymph_nodes" "PMID:35347128" "PMID:33283231" "SCTID:223176004" @@ -22073,13 +22073,12 @@ "UMLS:C0009250" "MESH:D003074" "MEDGEN:3522" - "ICD10:R91.1" "EFO:1001133" + "ICD10:R91.1" "MONDO:0006931" "UMLS:C5396999" "MONDO:0006061" "MEDGEN:1709179" - "UMLS:C4025821" "PMID:15005370" "KEGG:D00371" "PMID:11200776" @@ -22154,6 +22153,7 @@ "PMID:11126990" "PMID:19888960" "PMID:22541679" + "UMLS:C4025821" "MEDGEN:355816" "UMLS:C1866853" "GARD:2342" @@ -22440,6 +22440,8 @@ "KNApSAcK:C00007288" "MetaCyc:GLYCEROL-3P" "NCIt:C4508" + "UMLS:C0545131" + "NCIt:C98494" "OMIM:604360" "UMLS:C1858479" "DOID:0110764" @@ -22448,10 +22450,8 @@ "SCTID:715491000" "NCIT:C148317" "Orphanet:2822" - "UMLS:C0545131" - "NCIt:C98494" - "NCIt:C85050" "PMID:29093273" + "NCIt:C85050" "Orphanet:369979" "MEDGEN:1673147" "UMLS:C5190599" @@ -22729,7 +22729,6 @@ "MEDGEN:462308" "PMID:29875488" "ZFA:0009352" - "PMID:29875488" "ICD9:277.2" "MESH:C562583" "OMIM:300323" @@ -22741,6 +22740,7 @@ "GARD:16710" "https://biobank.ndph.ox.ac.uk/showcase/field.cgi?id=22330" "NCIt:C83502" + "PMID:29875488" "NCIT:C6186" "DOID:6844" "MEDGEN:233403" @@ -22776,8 +22776,6 @@ "PMID:35542997" "ZFS:0000021" "PMID:34619205" - "GARD:16886" - "Orphanet:98990" "NCIT:C54039" "Orphanet:251867" "MEDGEN:353541" @@ -22787,6 +22785,8 @@ "MedDRA:10011052" "MeSH:D019781" "SNOMEDCT:252830007" + "GARD:16886" + "Orphanet:98990" "PMID:26160806" "SNOMEDCT_US:14669001" "NCIt:C26808" @@ -22808,13 +22808,15 @@ "MEDGEN:4122" "GARD:8194" "MedDRA:10011775" + "PMID:23823483" "SCTID:78999002" "UMLS:C0029119" "ICD9:118" "ICD9:117.9" "MEDGEN:508004" "DOID:2473" - "PMID:23823483" + "UMLS:C2827510" + "NCIt:C84821" "MEDGEN:1381843" "SCTID:733091002" "UMLS:C4518577" @@ -22823,8 +22825,6 @@ "GARD:8583" "Orphanet:306527" "SCTID:253975004" - "UMLS:C2827510" - "NCIt:C84821" "NCIt:C80196" "PMID:29212897" "ICD10:Q87.8" @@ -23722,13 +23722,13 @@ "DOID:0050059" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM19025&Product=CC" "PMID:29875488" + "DOID:0060090" + "UMLS:C0347509" + "MEDGEN:488882" "UMLS:C4693688" "OMIM:617933" "DOID:0080434" "MEDGEN:1639392" - "DOID:0060090" - "UMLS:C0347509" - "MEDGEN:488882" "PMID:29875488" "MAT:0000036" "TAO:0000114" @@ -23849,15 +23849,15 @@ "PMID:36168886" "MAT:0000477" "PMID:29875488" - "UMLS:C0276648" - "MEDGEN:547460" - "SCTID:86348002" "GARD:21844" "UMLS:C0266251" "MESH:C562564" "OMIM:137040" "MEDGEN:82736" "Orphanet:440987" + "UMLS:C0276648" + "MEDGEN:547460" + "SCTID:86348002" "SNOMEDCT_US:67198005" "UMLS:C4280507" "UMLS:C0030590" @@ -23900,6 +23900,9 @@ "MeSH:C536085" "UMLS:C1839988" "OMIM:308205" + "PMID:29875488" + "RRID:CVCL_7084" + "BTO:0004899" "GARD:16450" "OMIM:158350" "RRID:CVCL_5137" @@ -23907,7 +23910,6 @@ "CLO:0009221" "RRID:CVCL_0547" "BTO:0000675" - "PMID:29875488" "OMIM:615438" "Orphanet:370088" "MEDGEN:815852" @@ -23920,8 +23922,6 @@ "MESH:C565497" "OMIM:238950" "UMLS:C1855925" - "RRID:CVCL_7084" - "BTO:0004899" "PMID:29875488" "MEDGEN:409971" "OMIM:611182" @@ -24266,9 +24266,9 @@ "ICD10:D58.2" "ICD10:G11.1" "OMIM:615705" + "FBdv:00005328" "SNOMEDCT_US:253936008" "UMLS:C0431890" - "FBdv:00005328" "MeSH:D040503" "SNOMEDCT:38468004" "MESH:D015499" @@ -24335,6 +24335,11 @@ "NCIT:C118423" "GARD:1051" "OMIM:114000" + "SCTID:725045004" + "MEDGEN:1388250" + "Orphanet:251510" + "GARD:17211" + "UMLS:C4510744" "UMLS:C1838979" "MEDGEN:374101" "DOID:0060536" @@ -24342,11 +24347,6 @@ "NANDO:1200180" "GARD:3908" "MESH:C537475" - "SCTID:725045004" - "MEDGEN:1388250" - "Orphanet:251510" - "GARD:17211" - "UMLS:C4510744" "SCTID:764435003" "MEDGEN:482767" "OMIM:614526" @@ -24488,6 +24488,11 @@ "FMA:77110" "EMAPA:36055" "PMID:28240269" + "MONDO:0005734" + "DOID:13763" + "SCTID:15566009" + "MeSH:D004313" + "MESH:D004313" "MESH:D017192" "MedDRA:10029147" "NANDO:1200742" @@ -24504,11 +24509,6 @@ "UMLS:C0162283" "SCTID:111395007" "MESH:D018500" - "MONDO:0005734" - "DOID:13763" - "SCTID:15566009" - "MeSH:D004313" - "MESH:D004313" "ORCiD:0000-0002-2244-7917" "TAO:0000669" "GOC:cvs" @@ -24571,11 +24571,11 @@ "SNOMEDCT_US:8074002" "UMLS:C0026267" "ZFA:0000022" - "FBbt:00005501" "MEDGEN:272660" "NCIT:C5835" "UMLS:C1333747" "DOID:10201" + "FBbt:00005501" "UMLS:C0338070" "GARD:9302" "MEDGEN:137828" @@ -24710,9 +24710,9 @@ "NCIT:C7483" "UMLS:C4025253" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02642&Product=CC" + "OMIM:604802" "NCIt:C100810" "ICD10:Z52" - "OMIM:604802" "GARD:19473" "SCTID:128213006" "DOID:439" @@ -25597,6 +25597,10 @@ "EMAPA:16240" "XAO:0000115" "MA:0000066" + "MEDGEN:1842248" + "GARD:21636" + "UMLS:C5681156" + "Orphanet:397802" "UMLS:C0041825" "SCTID:21426000" "DOID:5782" @@ -25605,10 +25609,6 @@ "MONDO:0003648" "MEDGEN:508258" "ICD9:384.9" - "MEDGEN:1842248" - "GARD:21636" - "UMLS:C5681156" - "Orphanet:397802" "SNOMEDCT:61449004" "NCIT:C168733" "DOID:0080676" @@ -25957,13 +25957,25 @@ "Reaxys:32385-58-3" "ChEMBL:1014759" "UMLS:C4024900" - "SNOMEDCT_US:80313002" - "UMLS:C0030252" "OMIM:185100" "UMLS:C1861449" "MEDGEN:350026" + "SNOMEDCT_US:80313002" + "UMLS:C0030252" "UMLS:C2827511" "NCIt:C84822" + "MEDGEN:3770" + "NCIt:C0011644" + "NCIT:C26746" + "MeSH:D012594" + "MedDRA:10039710" + "MONDO:0019340" + "MedDRA:10027979" + "DOID:419" + "Orphanet:801" + "GARD:18705" + "UMLS:C0011644" + "HP:0100324" "Orphanet:263746" "icd11.foundation:1632180154" "GARD:20913" @@ -25982,18 +25994,6 @@ "MEDGEN:539387" "UMLS:C0265641" "SCTID:66345008" - "MEDGEN:3770" - "NCIt:C0011644" - "NCIT:C26746" - "MeSH:D012594" - "MedDRA:10039710" - "MONDO:0019340" - "MedDRA:10027979" - "DOID:419" - "Orphanet:801" - "GARD:18705" - "UMLS:C0011644" - "HP:0100324" "OMIM:105400" "MONDO:0005145" "DOID:0080917" @@ -26008,8 +26008,6 @@ "DOID:11885" "MESH:D014516" "MEDGEN:102303" - "OMIM:614199" - "ICD10:N04" "NCIT:C84353" "MEDGEN:140795" "SCTID:237091009" @@ -26021,6 +26019,8 @@ "BTO:0002875" "RRID:CVCL_3871" "PMID:10702418" + "OMIM:614199" + "ICD10:N04" "UMLS:C0685409" "SNOMEDCT_US:29271008" "UMLS:C0035615" @@ -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" @@ -26233,6 +26233,11 @@ "UMLS:C1711256" "NCIT:C54210" "EHDAA2:0004725" + "MEDGEN:1631233" + "OMIM:617938" + "GARD:16271" + "DOID:0080420" + "UMLS:C4693699" "UMLS:C0036439" "NCIT:C78603" "MEDGEN:11348" @@ -26247,11 +26252,6 @@ "MONDO:0005392" "MESH:D012600" "ICD10CM:M41" - "MEDGEN:1631233" - "OMIM:617938" - "GARD:16271" - "DOID:0080420" - "UMLS:C4693699" "MEDGEN:1843462" "DOID:0060091" "UMLS:C0848083" @@ -26405,13 +26405,13 @@ "UMLS:C0013374" "DOID:11702" "HP:0002961" - "PMID:37664632" "OMIM:114030" "Orphanet:2678" "UMLS:C1861975" "GARD:3967" "MESH:C537421" "MEDGEN:396266" + "PMID:37664632" "GARD:17868" "UMLS:C4023671" "MEDGEN:220938" @@ -26430,10 +26430,10 @@ "GARD:15993" "MEDGEN:816505" "PMID:29875488" - "PMID:32641083" "UMLS:C4054355" "NCIt:C120642" "PMID:37253714" + "PMID:32641083" "MeSH:D006934" "ICD9:275.42" "UMLS:C0020437" @@ -26502,6 +26502,9 @@ "Orphanet:137646" "OMIM:615989" "NCIt:C28491" + "OMIM:613680" + "ICD10:G11.3" + "OMIM:208920" "GARD:9706" "OMIM:193230" "MESH:C536677" @@ -26510,9 +26513,6 @@ "ICD10CM:H35.5" "Orphanet:91496" "MEDGEN:395476" - "OMIM:613680" - "ICD10:G11.3" - "OMIM:208920" "PMID:29875488" "UMLS:C1332628" "MEDGEN:231966" @@ -26557,6 +26557,12 @@ "Reactome:R-HSA-1793207" "MetaCyc:3.1.6.12-RXN" "PMID:28240269" + "Orphanet:2230" + "UMLS:C4303079" + "ICD10CM:E23.0" + "SCTID:721842008" + "MEDGEN:928748" + "GARD:324" "ICD10CM:B72" "ICD9:125.7" "MEDGEN:41653" @@ -26572,12 +26578,6 @@ "MONDO:0016472" "Orphanet:231" "MESH:D004320" - "Orphanet:2230" - "UMLS:C4303079" - "ICD10CM:E23.0" - "SCTID:721842008" - "MEDGEN:928748" - "GARD:324" "OMIM:600331" "Orphanet:2825" "MESH:C537174" @@ -26831,6 +26831,7 @@ "MedDRA:10072154" "UMLS:C0751955" "EMAPA:17608" + "FMA:54375" "EHDAA2:0004104" "UMLS:C0027432" "VHOG:0000017" @@ -26844,7 +26845,6 @@ "AAO:0000559" "GAID:115" "MA:0000285" - "FMA:54375" "FMA:17558" "BTO:0001424" "WBbt:0006760" @@ -27032,9 +27032,9 @@ "ICD10:Q76.3" "OMIM:271630" "PMID:23823483" - "Chemspider:65998789" "GARD:20064" "Orphanet:165707" + "Chemspider:65998789" "OMIM:304110" "MeSH:C536456" "UMLS:C0220767" @@ -28149,9 +28149,9 @@ "UMLS:C4540493" "MONDO:0060621" "OMIM:617802" - "PMID:29875488" "UMLS:C0522224" "SNOMEDCT_US:44695005" + "PMID:29875488" "MONDO:0005872" "SCTID:372063002" "ICD9:192.9" @@ -28163,10 +28163,6 @@ "ICD9:192" "MEDGEN:99231" "NCIT:C4788" - "UMLS:C2103575" - "NCIt:C113723" - "Wikipedia:Scleromyositis" - "NCIt:C7290" "UMLS:C1858392" "GARD:18179" "MESH:C565780" @@ -28180,6 +28176,7 @@ "Orphanet:2863" "UMLS:C1861448" "MEDGEN:350025" + "NCIt:C7290" "UMLS:C2827512" "NCIt:C84823" "UMLS:C1857527" @@ -28191,6 +28188,9 @@ "UMLS:C5543168" "MEDGEN:1780603" "OMIM:619221" + "UMLS:C2103575" + "NCIt:C113723" + "Wikipedia:Scleromyositis" "DOID:11887" "UMLS:C1336875" "MEDGEN:234457" @@ -28548,11 +28548,15 @@ "PMID:29875488" "PMID:33634981" "PMID:32641083" + "NCIt:C142287" "MEDGEN:277663" "UMLS:C1336066" "DOID:4334" "NCIT:C7297" - "NCIt:C142287" + "NCIt:C37972" + "UMLS:C0239981" + "SNOMEDCT_US:119247004" + "SNOMEDCT:119247004" "PDBeChem:OMD" "Reaxys:2692860" "Wikipedia:Homogentisic_acid" @@ -28592,10 +28596,6 @@ "SNOMEDCT:73442001" "UMLS:C0038325" "MedDRA:10042033" - "NCIt:C37972" - "UMLS:C0239981" - "SNOMEDCT_US:119247004" - "SNOMEDCT:119247004" "SCTID:255015006" "UMLS:C0346379" "DOID:6524" @@ -29669,8 +29669,8 @@ "ICDO:8520/3" "SCTID:278054005" "MEDGEN:64634" - "PMID:28240269" "Orphanet:295077" + "PMID:28240269" "PMID:25101718" "GARD:19067" "UMLS:C4305255" @@ -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" @@ -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" @@ -31342,9 +31342,6 @@ "UMLS:C0041228" "Orphanet:3385" "SNOMEDCT:433386003" - "SNOMEDCT:71379006" - "MedDRA:10063121" - "MeSH:D004919" "UMLS:C1531773" "GARD:1626" "ICD9:759.89" @@ -31354,6 +31351,9 @@ "DOID:0111546" "MESH:C536221" "OMIM:176450" + "SNOMEDCT:71379006" + "MedDRA:10063121" + "MeSH:D004919" "OMIM:616231" "Orphanet:88635" "MEDGEN:864061" @@ -31579,6 +31579,8 @@ "CALOHA:TS-1195" "SNOMEDCT:53945006" "FMA:83553" + "PMID:28240269" + "http://orcid.org/0000-0001-9043-693X" "ICD9:774.4" "MEDGEN:510683" "MONDO:0006595" @@ -31586,8 +31588,6 @@ "SCTID:10877007" "DOID:11452" "MedDRA:10034513" - "PMID:28240269" - "http://orcid.org/0000-0001-9043-693X" "GARD:17724" "Orphanet:436151" "UMLS:C5543206" @@ -31696,9 +31696,6 @@ "MEDGEN:1646677" "DOID:0111920" "MedDRA:10082578" - "OMIM:272460" - "ICD10:Q76.4" - "PMID:35347128" "EFO:0007458" "ICD10:C34.1" "ICD10:C34.2" @@ -31719,6 +31716,9 @@ "PMID:17190852" "Reaxys:5728855" "HMDB:HMDB0000407" + "PMID:35347128" + "OMIM:272460" + "ICD10:Q76.4" "PMID:37253714" "UMLS:C4021975" "MEDGEN:324970" @@ -32112,18 +32112,18 @@ "UMLS:C1519651" "NCIT:C37866" "GARD:7060" - "MEDGEN:1810905" - "OMIM:619845" - "UMLS:C5676970" - "NCIt:C74475" - "MeSH:D029741" - "SNOMEDCT:86147000" "UMLS:C1336522" "MONDO:0006436" "EFO:1000555" "NCIT:C5935" "MEDGEN:277773" "SCTID:423189008" + "MEDGEN:1810905" + "OMIM:619845" + "UMLS:C5676970" + "NCIt:C74475" + "MeSH:D029741" + "SNOMEDCT:86147000" "PMID:31396565" "DOID:6554" "ICDO:8313/3" @@ -32313,8 +32313,6 @@ "Wikipedia:Amitriptyline" "KEGG:C06824" "HMDB:HMDB0014466" - "OMIM:607161" - "ICD10:Q87.8" "NCIT:C4984" "MEDGEN:181539" "UMLS:C0919267" @@ -32328,6 +32326,8 @@ "UMLS:C0742906" "UMLS:C4023452" "PMID:29875488" + "OMIM:607161" + "ICD10:Q87.8" "PMID:25729734" "PMID:15465040" "PMID:25125396" @@ -32840,7 +32840,6 @@ "NCIT:C131526" "PMID:28240269" "Orphanet:261559" - "Orphanet:573163" "OMIM:606056" "SCTID:725028009" "MEDGEN:342954" @@ -32849,6 +32848,7 @@ "UMLS:C1853736" "Orphanet:79330" "GARD:10767" + "Orphanet:573163" "NCIt:C121630" "Orphanet:1416" "UMLS:C0856830" @@ -32968,8 +32968,6 @@ "MESH:D002429" "MEDGEN:2921" "SCTID:128525008" - "OMIM:615043" - "ICD10:G11.4" "PMID:28533412" "Orphanet:27" "OMIM:251000" @@ -32980,6 +32978,8 @@ "UMLS:C1855114" "DOID:0060740" "NCIT:C148366" + "OMIM:615043" + "ICD10:G11.4" "UMLS:C1857486" "PMID:28240269" "OMIM:607616" @@ -33471,11 +33471,11 @@ "OMIM:108800" "DOID:0110106" "PMID:33634981" + "PMID:29875488" "NCIT:C5511" "MEDGEN:204256" "UMLS:C1096639" "DOID:3607" - "PMID:29875488" "Beilstein:3664410" "Reaxys:3664410" "PMID:17190852" @@ -33629,7 +33629,6 @@ "UMLS:C5231451" "DOID:0111918" "MEDGEN:1684662" - "KEGG COMPOUND:C17969" "NCIT:C3418" "ICD9:130" "SCTID:187192000" @@ -33649,6 +33648,7 @@ "MEDGEN:76012" "UMLS:C0279667" "NCIT:C7980" + "KEGG COMPOUND:C17969" "PMID:24816252" "PMID:28240269" "SCTID:87049008" @@ -33958,7 +33958,6 @@ "Orphanet:247582" "NANDO:1200978" "PMID:29875488" - "MeSH:D065851" "KEGG DRUG:D00715 \"KEGG DRUG\"" "Reaxys:8173227 \"Reaxys Registry Number\"" "DrugBank:DB00462" @@ -33980,6 +33979,12 @@ "MEDGEN:235339" "NCIT:C7070" "UMLS:C1334811" + "MeSH:D065851" + "MESH:C565776" + "OMIM:604400" + "MEDGEN:346805" + "UMLS:C1858379" + "DOID:0110074" "TAO:0000671" "EFO:0003555" "ZFA:0000671" @@ -33987,11 +33992,6 @@ "PO:0009030" "MAT:0000516" "BTO:0000072" - "MESH:C565776" - "OMIM:604400" - "MEDGEN:346805" - "UMLS:C1858379" - "DOID:0110074" "NORD:1879" "DECIPHER:65" "DOID:0110029" @@ -34045,12 +34045,12 @@ "OMIM:300844" "GARD:22687" "MESH:C563141" - "PMID:29875488" "MESH:C567097" "UMLS:C2673266" "GARD:10289" "MEDGEN:392873" "OMIM:611722" + "PMID:29875488" "PMID:29875488" "PMID:29875488" "NCIt:C92851" @@ -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" @@ -34971,7 +34971,6 @@ "ICD10:Q87.8" "OMIM:236700" "MeSH:C538159" - "PMID:29875488" "UMLS:C0795998" "SCTID:709105005" "ICD9:759.89" @@ -34983,6 +34982,7 @@ "MESH:C537559" "MEDGEN:208653" "DOID:0111337" + "PMID:29875488" "PMID:35347128" "PMID:29875488" "PMID:22675423" @@ -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" @@ -35206,7 +35206,6 @@ "ICD9:335" "DOID:4873" "NCIt:C49236" - "FBbt:00005612" "NANDO:1200233" "UMLS:C0263312" "MEDGEN:537812" @@ -35217,6 +35216,7 @@ "ICD10CM:L10.4" "MONDO:0019323" "Orphanet:79480" + "FBbt:00005612" "UMLS:C0580190" "MEDGEN:663158" "SCTID:303098002" @@ -35308,6 +35308,7 @@ "Orphanet:1460" "DOID:0111139" "MEDGEN:377658" + "MedDRA:10061137" "OMIM:617253" "OMIM:606744" "OMIM:616777" @@ -35322,7 +35323,6 @@ "OMIM:614728" "OMIM:616171" "OMIM:600546" - "MedDRA:10061137" "OMIM:613076" "ICD10:G71.3" "Orphanet:500481" @@ -35959,6 +35959,7 @@ "SNOMEDCT:258723000" "NCIt:C68855" "MO:977" + "UMLS:C1518263" "EMAPA:17171" "EHDAA:4763" "EHDAA2:0001253" @@ -35973,7 +35974,6 @@ "EMAPA:18590" "BTO:0000929" "ZFA:0000046" - "UMLS:C1518263" "BTO:0000750" "MAT:0000517" "PO:0009072" @@ -36018,15 +36018,15 @@ "OMIM:604314" "MeSH:D017541" "OMIM:615285" + "MEDGEN:1645733" + "OMIM:618015" + "UMLS:C4693947" "MEDGEN:108723" "UMLS:C0600503" "SCTID:86075001" "DOID:2212" "MESH:D020147" "NCIT:C27215" - "MEDGEN:1645733" - "OMIM:618015" - "UMLS:C4693947" "UMLS:C4304344" "Orphanet:79129" "MEDGEN:930013" @@ -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" @@ -36621,11 +36621,11 @@ "UMLS:C4310806" "SCTID:722457005" "OMIM:612018" - "RRID:CVCL_D7EM" - "PMID:30241395" "UMLS:C3280689" "MEDGEN:482319" "OMIM:614400" + "RRID:CVCL_D7EM" + "PMID:30241395" "UMLS:C1291230" "ICD10:E71.3" "Orphanet:98456" @@ -36645,8 +36645,6 @@ "ICD9:405.9" "UMLS:C0155616" "UMLS:C4022983" - "OMIM:218550" - "ICD10:Q87.2" "ICD10:I06" "MEDGEN:226776" "UMLS:C1260873" @@ -36659,6 +36657,8 @@ "OMIM:618496" "ICD9:424.1" "DOID:62" + "OMIM:218550" + "ICD10:Q87.2" "Orphanet:482" "GARD:6835" "MESH:D000796" @@ -36876,6 +36876,13 @@ "OMIM:605606" "MEDGEN:10997" "PMID:29875488" + "NANDO:1200892" + "Orphanet:98362" + "OMIMPS:300751" + "UMLS:C0221018" + "MEDGEN:65119" + "icd11.foundation:789053868" + "GARD:19453" "MESH:C563458" "MEDGEN:322202" "UMLS:C1833487" @@ -36886,13 +36893,6 @@ "Orphanet:3167" "UMLS:C2931473" "MESH:C537335" - "NANDO:1200892" - "Orphanet:98362" - "OMIMPS:300751" - "UMLS:C0221018" - "MEDGEN:65119" - "icd11.foundation:789053868" - "GARD:19453" "MetaCyc:SERSYN-PWY" "CMO:0000370" "SCTID:314515006" @@ -37372,6 +37372,13 @@ "Orphanet:370348" "UMLS:C0684337" "NCIT:C9341" + "MESH:C564985" + "OMIM:253900" + "GARD:779" + "Orphanet:1155" + "UMLS:C1850865" + "DOID:0110631" + "MEDGEN:342608" "MeSH:D018366" "SCTID:60555002" "ICD9:446.2" @@ -37381,13 +37388,6 @@ "ICD9:446.20" "NCIT:C82863" "DOID:9809" - "MESH:C564985" - "OMIM:253900" - "GARD:779" - "Orphanet:1155" - "UMLS:C1850865" - "DOID:0110631" - "MEDGEN:342608" "DOID:0112003" "GARD:12915" "OMIM:300584" @@ -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" @@ -37606,11 +37606,11 @@ "MeSH:C536746" "CALOHA:TS-0688" "BTO:0001026" + "PMID:35347128" "OMIM:619272" "GARD:16440" "UMLS:C5543281" "MEDGEN:1783339" - "PMID:35347128" "PMID:29875488" "MEDGEN:414502" "OMIM:603829" @@ -37821,10 +37821,10 @@ "UMLS:C1263847" "MEDGEN:688117" "SCTID:128128003" - "PMID:29875488" "DOID:0111297" "OMIMPS:121210" "MONDO:0005430" + "PMID:29875488" "SCTID:86689007" "MESH:D002060" "BTO:0001699" @@ -38056,6 +38056,7 @@ "MEDGEN:64246" "EFO:1000051" "PMID:35347128" + "PMID:26017310" "MESH:C535742" "GARD:9827" "MEDGEN:322026" @@ -38065,7 +38066,6 @@ "OMIM:601110" "SCTID:720976009" "NCIT:C126870" - "PMID:26017310" "ZFA:0009176" "PMID:28240269" "MedDRA:10063761" @@ -38111,6 +38111,7 @@ "XAO:0000238" "MIAA:0000050" "NCIT:C12390" + "PMID:36848389" "BTO:0000106" "MESH:D009107" "ICD9:072" @@ -38124,7 +38125,6 @@ "UMLS:C0026780" "DOID:10304" "DOID:10264" - "PMID:36848389" "ICD9:379.24" "UMLS:C0700141" "MEDGEN:1843447" @@ -38269,6 +38269,9 @@ "UMLS:C1321220" "DOID:2996" "NCIT:C5241" + "UMLS:C2930871" + "OMIM:249710" + "ICD10:Q78.8" "UMLS:C0877359" "SNOMEDCT_US:166643006" "UMLS:C1842003" @@ -38280,9 +38283,6 @@ "UMLS:C0438717" "UMLS:C0151766" "UMLS:C0438237" - "UMLS:C2930871" - "OMIM:249710" - "ICD10:Q78.8" "NCIT:C3624" "UMLS:C0154027" "ICD9:224.5" @@ -38584,7 +38584,6 @@ "UMLS:C0023219" "MESH:D007868" "DOID:3142" - "PMID:29875488" "NORD:1182" "MEDGEN:1684765" "SCTID:128207002" @@ -38593,6 +38592,7 @@ "OMIMPS:256850" "NCIT:C84728" "ICD9:349.89" + "PMID:29875488" "ICD10CM:D18.02" "MEDGEN:57582" "ICD9:228.02" @@ -38951,8 +38951,8 @@ "MESH:D001660" "MeSH:D001660" "SCTID:105997008" - "MedDRA:10004676" "ICD9:576.9" + "MedDRA:10004676" "MEDGEN:108201" "ICD10:K83.9" "DOID:9741" @@ -39245,6 +39245,7 @@ "MEDGEN:1739565" "UMLS:C5438975" "Orphanet:96266" + "PMID:35888748" "UMLS:C0030636" "SCTID:83172007" "ICD10CM:A28.0" @@ -39263,7 +39264,6 @@ "Orphanet:247798" "DOID:0080410" "GARD:10805" - "PMID:35888748" "NCIT:C5515" "MEDGEN:232035" "UMLS:C1332867" @@ -39532,18 +39532,6 @@ "DOID:5809" "NCIT:C6589" "UMLS:C1332994" - "ICD10:C63.9" - "ICD9:187.9" - "MESH:D005834" - "UMLS:C0153606" - "SCTID:363515000" - "MONDO:0005836" - "EFO:0007355" - "ICD10:C60-C63" - "ICD9:187.8" - "MEDGEN:102279" - "DOID:3856" - "NCIT:C8561" "CiteXplore:11356183" "CiteXplore:20187701" "CiteXplore:11181467" @@ -39559,6 +39547,18 @@ "CiteXplore:15913955" "PMID:15583011" "PMID:11181467" + "ICD10:C63.9" + "ICD9:187.9" + "MESH:D005834" + "UMLS:C0153606" + "SCTID:363515000" + "MONDO:0005836" + "EFO:0007355" + "ICD10:C60-C63" + "ICD9:187.8" + "MEDGEN:102279" + "DOID:3856" + "NCIT:C8561" "OMIM:614322" "ICD10:G11.1" "GARD:2016" @@ -40058,6 +40058,9 @@ "MeSH:D014997" "MedDRA:10056894" "MeSH:C535317" + "NCIt:C34879" + "MeSH:D055034" + "UMLS:C0029429" "MEDGEN:99140" "UMLS:C0457014" "MESH:C562993" @@ -40065,9 +40068,6 @@ "SCTID:722296002" "GARD:932" "Orphanet:1262" - "NCIt:C34879" - "MeSH:D055034" - "UMLS:C0029429" "Orphanet:3191" "GARD:405" "OMIM:271960" @@ -40468,6 +40468,13 @@ "MESH:D009808" "MEDGEN:10426" "NCIT:C3286" + "XAO:0000428" + "TAO:0000295" + "EV:0100491" + "MA:0001080" + "BTO:0001231" + "FMA:52618" + "MAT:0000511" "MEDGEN:151927" "UMLS:C0684743" "EFO:0007384" @@ -40479,13 +40486,6 @@ "DOID:4045" "SCTID:363495004" "ICD10:C49" - "XAO:0000428" - "TAO:0000295" - "EV:0100491" - "MA:0001080" - "BTO:0001231" - "FMA:52618" - "MAT:0000511" "PMID:36848389" "OMIM:614326" "ICD10:Q87.8" @@ -40635,13 +40635,13 @@ "PMID:22002881" "OMIM:607671" "ICD10:G24.1" - "PMID:37164013" "GARD:22389" "Orphanet:596008" "MEDGEN:422448" "DOID:0081290" "OMIM:207410" "UMLS:C2936791" + "PMID:37164013" "SNOMEDCT:243430004" "Orphanet:247623" "GARD:17191" @@ -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" @@ -40930,7 +40930,6 @@ "SCTID:232208008" "UMLS:C0395797" "MESH:D010038" - "PMID:26068415" "DOID:8574" "MEDGEN:507920" "UMLS:C0023643" @@ -40940,6 +40939,7 @@ "MONDO:0006570" "ICD10:L28" "SCTID:88996004" + "PMID:26068415" "UMLS:C1837653" "PMID:29875488" "DOID:6469" @@ -41084,6 +41084,7 @@ "GARD:16760" "MEDGEN:390802" "PMID:29875488" + "PMID:34814699" "MEDGEN:64439" "UMLS:C0205770" "MESH:D020288" @@ -41097,7 +41098,6 @@ "MedDRA:10008777" "GARD:4214" "NANDO:2200093" - "PMID:34814699" "NANDO:2200602" "SCTID:398036000" "MEDGEN:152875" @@ -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" @@ -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" @@ -41677,13 +41677,13 @@ "DOID:0081399" "PMID:24816252" "UMLS:C4021387" - "OMIM:617234" - "OMIM:616814" "MEDGEN:87560" "SCTID:189151003" "NCIT:C4555" "UMLS:C0346374" "ICD9:224.0" + "OMIM:617234" + "OMIM:616814" "MESH:D012811" "MEDGEN:20753" "SCTID:126845000" @@ -41759,8 +41759,6 @@ "BFO:function" "SNOMEDCT:246464006" "SNOMEDCT:277064003" - "ICD10:Q11.2" - "OMIM:611222" "CALOHA:TS-0452" "NCIt:C32734" "FMA:67763" @@ -41769,6 +41767,8 @@ "UMLS:C5830516" "MEDGEN:1841152" "OMIM:620374" + "ICD10:Q11.2" + "OMIM:611222" "SNOMEDCT:66591004" "MONDO:0002269" "ICD10:K52" @@ -41897,7 +41897,6 @@ "MEDGEN:335283" "SNOMEDCT_US:3006004" "UMLS:C0234428" - "NCIt:C39944" "Orphanet:2745" "DOID:0080697" "OMIMPS:300000" @@ -41906,6 +41905,7 @@ "DOID:0050780" "ICD9:758.89" "SCTID:81771002" + "NCIt:C39944" "OMIM:184840" "UMLS:C1848488" "Orphanet:3450" @@ -41995,15 +41995,6 @@ "GARD:16693" "Orphanet:251651" "UMLS:CN201945" - "MEDGEN:1826073" - "GARD:18643" - "UMLS:C5680181" - "Orphanet:88616" - "DOID:0060308" - "OMIMPS:249500" - "RRID:CVCL_0504" - "BTO:0001890" - "CLO:0008825" "UMLS:C0085253" "DOID:14256" "NANDO:1200282" @@ -42022,6 +42013,15 @@ "MeSH:D016706" "ICD9:714.2" "ICD9:759.89" + "MEDGEN:1826073" + "GARD:18643" + "UMLS:C5680181" + "Orphanet:88616" + "DOID:0060308" + "OMIMPS:249500" + "RRID:CVCL_0504" + "BTO:0001890" + "CLO:0008825" "UMLS:C1862382" "SCTID:724384008" "MESH:C566236" @@ -42065,6 +42065,7 @@ "Orphanet:206489" "UMLS:C4749402" "PMID:29875488" + "MEDGEN:60209" "NCIT:C3775" "MONDO:0006973" "EFO:1001183" @@ -42073,7 +42074,6 @@ "MedDRA:10040798" "ICDO:8390/3" "UMLS:C0206697" - "MEDGEN:60209" "SCTID:733034007" "GARD:1261" "Orphanet:1406" @@ -42091,7 +42091,6 @@ "GARD:21230" "Orphanet:295245" "PMID:35995766" - "PMID:28240269" "ONCOTREE:ANKL" "ICDO:9948/3" "DOID:1035" @@ -42109,6 +42108,7 @@ "NANDO:1200601" "Orphanet:725" "UMLS:C5552731" + "PMID:28240269" "Orphanet:231140" "MEDGEN:1826102" "GARD:20604" @@ -42482,13 +42482,13 @@ "OMIM:617276" "OMIM:618437" "PMID:29875488" - "OMIM:309610" "SCTID:126970001" "MEDGEN:226811" "NCIT:C5825" "UMLS:C1263896" "DOID:3421" "ICD9:239.7" + "OMIM:309610" "ICD10:E75.2" "UMLS:C0751917" "UMLS:C0151747" @@ -42954,8 +42954,8 @@ "VHOG:0001480" "CALOHA:TS-0068" "BTO:0000776" - "FMA:62869" "SNOMEDCT:112130006" + "FMA:62869" "PMID:35347128" "UMLS:C5555857" "GARD:22213" @@ -43794,8 +43794,8 @@ "DOID:0070474" "OMIM:617672" "MEDGEN:1626007" - "UMLS:C4540086" "GARD:13658" + "UMLS:C4540086" "UMLS:C0024904" "SNOMEDCT_US:52404001" "NCIT:C35212" @@ -43899,8 +43899,8 @@ "UMLS:C0029422" "SNOMEDCT_US:240190009" "UMLS:C0410528" - "Wikipedia:Immune_system" "NCIt:C6356" + "Wikipedia:Immune_system" "UMLS:C5439342" "Orphanet:232035" "MEDGEN:1736309" @@ -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" @@ -44785,8 +44785,8 @@ "ICD9:372.30" "ICD10:H10" "UMLS:C0003723" - "MEDGEN:389" "DOID:934" + "MEDGEN:389" "MESH:D001102" "NCIT:C34396" "MONDO:0020731" @@ -44942,10 +44942,10 @@ "MAT:0000494" "MA:0000118" "EMAPA:18427" - "PMID:29875488" "UMLS:C1261128" "OMIM:176690" "MeSH:C536422" + "PMID:29875488" "GARD:21349" "UMLS:C5681033" "Orphanet:309824" @@ -45032,6 +45032,8 @@ "DOID:11387" "UMLS:C0270629" "MONDO:0005752" + "MeSH:D045826" + "DOID:50364" "KEGG COMPOUND:C19458" "MEDGEN:354548" "UMLS:C1720956" @@ -45045,8 +45047,6 @@ "GARD:21580" "UMLS:C5191050" "MEDGEN:1680592" - "MeSH:D045826" - "DOID:50364" "PMID:28240269" "UMLS:C0344622" "ICD-10:Q20.4" @@ -45079,6 +45079,7 @@ "UMLS:C0085426" "SCTID:371582002" "PMID:28240269" + "MA:0001361" "AAO:0000890" "CALOHA:TS-1048" "SCTID:182061009" @@ -45086,13 +45087,12 @@ "EFO:0003054" "UMLS:C0040184" "NCIT:C12800" - "Wikipedia:Tibia" "EMAPA:19142" + "Wikipedia:Tibia" "FMA:24476" "BTO:0001252" "GAID:204" "MESH:D013977" - "MA:0001361" "GARD:1128" "MESH:C565076" "SCTID:389272007" @@ -45234,7 +45234,6 @@ "SCTID:302874002" "OMIM:153880" "ICD10:H35.5" - "MO:626" "MEDGEN:6510" "MONDO:0006313" "EFO:1000390" @@ -45242,6 +45241,7 @@ "NCIT:C34835" "UMLS:C0027269" "SCTID:24565001" + "MO:626" "PMID:26068415" "GARD:16624" "Orphanet:3231" @@ -45427,9 +45427,9 @@ "MEDGEN:18377" "ICD10:I31" "UMLS:C0031046" - "MONDO:0005904" "ICD10:I30" "DOID:1787" + "MONDO:0005904" "SCTID:3238004" "NCIT:C34915" "Orphanet:58208" @@ -46195,8 +46195,8 @@ "UMLS:C1263887" "UMLS:CN228909" "Orphanet:100981" - "OMIMPS:314580" "http://orcid.org/0000-0003-4183-8865" + "OMIMPS:314580" "RRID:CVCL_0590" "MEDGEN:52365" "NCIT:C35025" @@ -46497,12 +46497,6 @@ "Wikipedia:Month" "NCIt:C29846" "SNOMEDCT:258706009" - "SCTID:721879006" - "MESH:C537466" - "Orphanet:2556" - "DOID:0111875" - "OMIMPS:309801" - "GARD:3659" "MeSH:D009468" "Orphanet:68381" "MEDGEN:10323" @@ -46515,6 +46509,12 @@ "NANDO:1100001" "MedDRA:10029323" "MESH:D009468" + "SCTID:721879006" + "MESH:C537466" + "Orphanet:2556" + "DOID:0111875" + "OMIMPS:309801" + "GARD:3659" "UMLS:C1303009" "SNOMEDCT_US:400962005" "DOID:1059" @@ -47278,8 +47278,8 @@ "GARD:3836" "MEDGEN:511579" "Orphanet:3237" - "GARD:2322" "ATCC:HTB-173" + "GARD:2322" "UMLS:C0271111" "NORD:1109" "Orphanet:98981" @@ -47466,8 +47466,8 @@ "MONDO:0005493" "MONDO:0003381" "ICD9:253.8" - "ICD9:253.1" "ICD9:253.9" + "ICD9:253.1" "MESH:D010900" "NCIT:C26854" "MEDGEN:45934" @@ -47623,14 +47623,19 @@ "DOID:8850" "SCTID:255072001" "MESH:D012468" - "MEDGEN:41426" - "SCTID:79471008" - "UMLS:C0011057" "UMLS:C0349574" "MEDGEN:91156" "ICD9:239.89" "NCIT:C4651" "SCTID:126734005" + "MEDGEN:41426" + "SCTID:79471008" + "UMLS:C0011057" + "ICD9:381.4" + "SCTID:275481002" + "MEDGEN:543351" + "DOID:11180" + "UMLS:C0271446" "GAID:514" "MA:0002067" "MESH:D016909" @@ -47638,11 +47643,6 @@ "NCIT:C12824" "EMAPA:36530" "SCTID:181351007" - "ICD9:381.4" - "SCTID:275481002" - "MEDGEN:543351" - "DOID:11180" - "UMLS:C0271446" "MedDRA:10079146" "MedDRA:10074903" "MONDO:0005195" @@ -47862,8 +47862,6 @@ "SNOMEDCT_US:197270009" "UMLS:C0162557" "SNOMEDCT_US:235884008" - "ICD10:E76.0" - "OMIM:607014" "DOID:0050980" "MESH:C566146" "Orphanet:217012" @@ -47874,6 +47872,8 @@ "OMIM:117210" "SCTID:715826005" "NANDO:1200044" + "ICD10:E76.0" + "OMIM:607014" "OMIM:190440" "MEDGEN:98473" "UMLS:C0432122" @@ -48025,7 +48025,6 @@ "MEDGEN:9163" "UMLS:C0018777" "SCTID:44057004" - "SCTID:254968009" "MONDO:0006799" "NCIT:C3129" "MEDGEN:5717" @@ -48033,6 +48032,7 @@ "DOID:3644" "MESH:D007029" "UMLS:C0020659" + "SCTID:254968009" "UMLS:C1847762" "MEDGEN:349899" "MESH:C566033" @@ -48315,6 +48315,7 @@ "PMID:26430127" "PMID:35347128" "PMID:23823483" + "UMLS:C1833030" "GARD:7664" "NORD:1726" "Orphanet:820" @@ -48328,7 +48329,6 @@ "OMIM:182410" "MESH:D018860" "MeSH:D018860" - "UMLS:C1833030" "OMIM:185000" "UMLS:C1861455" "GARD:4183" @@ -48560,13 +48560,13 @@ "DOID:3491" "icd11.foundation:1987089698" "ICD10:F23" - "PMID:28240269" "MIAA:0000210" "MESH:D003335" "MAT:0000210" "EFO:0000379" "FBbt:00005800" "BTO:0000291" + "PMID:28240269" "Orphanet:209056" "GARD:20431" "UMLS:C5680842" @@ -48610,7 +48610,6 @@ "MedDRA:10049890" "MeSH:D041761" "MONDO:0006698" - "PMID:29875488" "Orphanet:228360" "OMIM:256731" "GARD:1223" @@ -48618,7 +48617,6 @@ "DOID:0110728" "MEDGEN:376792" "UMLS:C1850442" - "PMID:35347128" "MEDGEN:501212" "UMLS:C3495591" "GARD:9190" @@ -48635,6 +48633,8 @@ "MEDGEN:358387" "MESH:D054091" "DOID:0050454" + "PMID:29875488" + "PMID:35347128" "NCIT:C6804" "UMLS:C0346342" "SCTID:254989000" @@ -48667,17 +48667,17 @@ "GARD:9980" "DOID:0111832" "MEDGEN:337122" - "MEDGEN:856014" - "OMIM:615807" - "GARD:16013" - "DOID:0070009" - "UMLS:C3891452" "MeSH:D013661" "UMLS:C1848922" "UMLS:C0039373" "ICD10:E75.0" "OMIM:272800" "MedDRA:10043147" + "MEDGEN:856014" + "OMIM:615807" + "GARD:16013" + "DOID:0070009" + "UMLS:C3891452" "UMLS:C4023342" "UMLS:C4020748" "Orphanet:139536" @@ -48777,12 +48777,12 @@ "UMLS:C0266444" "SNOMEDCT_US:5286009" "SNOMEDCT_US:702610009" - "PMID:29875488" "PMID:21602805" "UMLS:C4329660" "NCIT:C131506" "GARD:91" "MEDGEN:1374316" + "PMID:29875488" "NIF_Subcellular:sao867568886" "NIF_Subcellular:sao-867568886" "UMLS:C1834579" @@ -48875,13 +48875,13 @@ "MEDGEN:462969" "OMIM:270500" "UMLS:C3151619" + "PMID:31530798" "DOID:10989" "NCIT:C35116" "ICD9:372.74" "MEDGEN:12052" "SCTID:74100001" "UMLS:C0042370" - "PMID:31530798" "NCIT:C26974" "MESH:D046089" "SCTID:77507001" @@ -49039,13 +49039,13 @@ "ICD10EXP:E72.0+" "ICD10EXP:N16.3*" "PMID:28240269" - "MP:0002975" "SCTID:92027006" "DOID:0060094" "UMLS:C0684516" "NCIT:C4880" "ICD9:213.9" "MEDGEN:146337" + "MP:0002975" "EFO:0003577" "TAO:0000815" "ZFA:0000815" @@ -49515,6 +49515,7 @@ "ONCOTREE:MYCHS" "OMIM:609260" "ICD10:G60.0" + "PMID:28240269" "Fyler:2859" "UMLS:C0748427" "SNOMEDCT_US:67751000119106" @@ -49523,7 +49524,6 @@ "UMLS:C4722330" "MEDGEN:1654700" "Orphanet:3221" - "PMID:28240269" "PMID:36168886" "PMID:35347128" "PMID:35995766" @@ -49596,8 +49596,8 @@ "UMLS:C1711262" "NCIT:C43630" "EMAPA:37599" - "PMID:24816252" "ZFA:0001133" + "PMID:24816252" "ICD10:Q23" "GARD:1495" "MEDGEN:1842184" @@ -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" @@ -50083,11 +50083,11 @@ "Orphanet:98586" "NCIT:C152302" "RRID:CVCL_S599" + "PMID:33204752" "PMID:36168886" "UMLS:C5676935" "OMIM:619781" "MEDGEN:1806812" - "PMID:33204752" "GARD:21275" "Orphanet:306750" "NCIT:C6835" @@ -50347,8 +50347,6 @@ "SCTID:204739008" "PMID:23823483" "PMID:35347128" - "RRID:CVCL_M914" - "BTO:0006124" "MedDRA:10041329" "MEDGEN:52416" "SCTID:253006001" @@ -50364,6 +50362,8 @@ "ICD10:E16.8" "Orphanet:97283" "ICDO:8156/1" + "RRID:CVCL_M914" + "BTO:0006124" "MESH:C535334" "Orphanet:918" "UMLS:C1838099" @@ -50852,11 +50852,6 @@ "PMID:37164013" "PMID:24816252" "PMID:28552477" - "MEDGEN:767552" - "GARD:15915" - "DOID:0111230" - "UMLS:C3554638" - "OMIM:615181" "OMIM:270550" "MESH:C536787" "GARD:4910" @@ -50865,6 +50860,11 @@ "SCTID:702445005" "DOID:0050946" "Orphanet:98" + "MEDGEN:767552" + "GARD:15915" + "DOID:0111230" + "UMLS:C3554638" + "OMIM:615181" "MEDGEN:376447" "MESH:C564767" "UMLS:C1848814" @@ -50922,8 +50922,6 @@ "EMAPA:16728" "galen:Lung" "Wikipedia:Lung" - "MedDRA:10028127" - "MeSH:D052016" "HMDB:0013250" "GARD:19856" "Orphanet:108961" @@ -50947,6 +50945,12 @@ "MEDGEN:335526" "SCTID:716999001" "OMIM:609583" + "MedDRA:10028127" + "MeSH:D052016" + "Orphanet:315311" + "MEDGEN:1826061" + "GARD:21399" + "UMLS:C5679895" "SCTID:46775006" "NCIT:C27560" "MeSH:D006819" @@ -50954,10 +50958,6 @@ "OMIM:267450" "DOID:12716" "MONDO:0700081" - "Orphanet:315311" - "MEDGEN:1826061" - "GARD:21399" - "UMLS:C5679895" "UMLS:C0836924" "NCIT:C35530" "MESH:D013922" @@ -51249,6 +51249,8 @@ "GARD:21622" "Orphanet:391381" "HMDB:0041537" + "OMIM:161050" + "ICD10:L60.3" "ICD9:375.69" "UMLS:C0022904" "DOID:1400" @@ -51261,8 +51263,6 @@ "ICD10:H04" "MESH:D007766" "ICD9:375.9" - "OMIM:161050" - "ICD10:L60.3" "DOID:11389" "UMLS:C0038539" "MONDO:0006984" @@ -51284,16 +51284,16 @@ "NCIT:C84694" "DOID:5002" "PMID:35347128" - "Orphanet:502430" - "MEDGEN:1799530" - "GARD:22047" - "UMLS:C5568107" "MEDGEN:333892" "Orphanet:1927" "GARD:2593" "OMIM:139750" "UMLS:C1841693" "MESH:C535626" + "Orphanet:502430" + "MEDGEN:1799530" + "GARD:22047" + "UMLS:C5568107" "galen:ConnectiveTissue" "FMA:9640" "MESH:D003238" @@ -51582,11 +51582,11 @@ "MAT:0000358" "SNOMEDCT:75505008" "NCIt:C79681" + "PMID:23823483" + "PMID:37596262" "ICD10:Q87.8" "OMIM:155145" "UMLS:C1835087" - "PMID:23823483" - "PMID:37596262" "Wikipedia:Nasopharynx" "NCIT:C12423" "EMAPA:17670" @@ -51834,8 +51834,6 @@ "ChEMBL:102753" "Chemspider:1634" "Beilstein:8134396" - "OMIM:614706" - "ICD10:E75.4" "Orphanet:609" "DOID:0111078" "MEDGEN:333047" @@ -51843,6 +51841,8 @@ "UMLS:C1838244" "GARD:13154" "SCTID:698846009" + "OMIM:614706" + "ICD10:E75.4" "Orphanet:139036" "GARD:19907" "UMLS:C1844505" @@ -52047,12 +52047,12 @@ "ICD9:199" "ONCOTREE:MT" "DOID:162" + "ZFA:0000975" "MONDO:0006824" "MESH:D002287" "EFO:1001007" "MEDGEN:2842" "UMLS:C0007128" - "ZFA:0000975" "SCTID:193410003" "DOID:0090114" "Orphanet:59181" @@ -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" @@ -52168,6 +52168,8 @@ "ICD10:G71.3" "OMIM:252011" "PMID:35995766" + "ICD10:E77.8" + "OMIM:609056" "NANDO:1201073" "NCIT:C99056" "icd11.foundation:1693546163" @@ -52180,8 +52182,6 @@ "MESH:D065707" "SCTID:253159001" "ICD9:742.4" - "ICD10:E77.8" - "OMIM:609056" "Chemspider:4943512" "LIPID_MAPS_instance:LMSP01080062" "CAS:121025-45-4" @@ -52507,11 +52507,11 @@ "PMID:35995766" "PMID:25383968" "PMID:33204752" - "RRID:CVCL_VT20" "Wikipedia:stenosis" "SNOMEDCT:27551008" "NCIt:C50754" "UMLS:C4280728" + "RRID:CVCL_VT20" "PMID:24816252" "PMID:15774534" "PMID:16276979" @@ -52593,15 +52593,15 @@ "MONDO:0005585" "PMID:36168886" "ZFA:0001461" + "Orphanet:209182" + "MEDGEN:1842429" + "UMLS:C5680844" + "GARD:20433" "MEDGEN:896665" "OMIM:616357" "GARD:18142" "DOID:0110566" "UMLS:C4084708" - "Orphanet:209182" - "MEDGEN:1842429" - "UMLS:C5680844" - "GARD:20433" "MEDGEN:82795" "DOID:0070134" "OMIM:219200" @@ -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" @@ -53555,8 +53555,8 @@ "AEO:0000122" "FMA:9641" "Wikipedia:Muscle_tissue" - "galen:MuscleTissue" "EMAPA:32715" + "galen:MuscleTissue" "CALOHA:TS-0642" "MESH:D009132" "MIAA:0000049" @@ -53840,8 +53840,8 @@ "MEDGEN:48263" "Orphanet:79224" "DOID:653" - "ICD9:277.2" "MedDRA:10037546" + "ICD9:277.2" "MESH:D011686" "UMLS:C0034139" "GARD:18980" @@ -53972,7 +53972,6 @@ "OMIM:620306" "MEDGEN:1841021" "PMID:24816252" - "PMID:30685440" "OMIM:612530" "DOID:0060412" "MEDGEN:382704" @@ -53980,6 +53979,7 @@ "UMLS:C2675857" "GARD:3738" "SCTID:716515000" + "PMID:30685440" "UMLS:C0007659" "SNOMEDCT_US:23255001" "SNOMEDCT_US:37258009" @@ -53994,6 +53994,7 @@ "FMA:32521" "UMLS:C0224234" "AAO:0010716" + "PMID:34814699" "ICD9:276.2" "MedDRA:10000486" "MONDO:0006022" @@ -54004,7 +54005,6 @@ "NCIt:C83504" "SCTID:51387008" "MEDGEN:1296" - "PMID:34814699" "GARD:18404" "OMIM:617593" "MEDGEN:1621256" @@ -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" @@ -55622,6 +55622,7 @@ "UMLS:C0205650" "DOID:3172" "MEDGEN:59999" + "PMID:24816252" "MEDGEN:52426" "ICD9:123.5" "MONDO:0005963" @@ -55633,7 +55634,6 @@ "NCIT:C35030" "MESH:D013031" "MP:0004883" - "PMID:24816252" "PMID:28099430" "MESH:C564715" "GARD:10806" @@ -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" @@ -55782,6 +55782,8 @@ "OMIM:619003" "DOID:0112139" "MEDGEN:1745427" + "OMIM:314200" + "ICD10:E07.8" "NCIt:C7673" "ICD9:756.9" "SCTID:51952004" @@ -55789,8 +55791,6 @@ "DOID:0112284" "Orphanet:93284" "PMID:28240269" - "OMIM:314200" - "ICD10:E07.8" "GARD:21964" "Orphanet:477768" "NCIT:C118847" @@ -56009,8 +56009,8 @@ "UMLS:C0877149" "MEDGEN:164080" "SCTID:430725003" - "MESH:D046788" "MeSH:D046788" + "MESH:D046788" "MedDRA:10049143" "DOID:14284" "PMID:29875488" @@ -56150,15 +56150,15 @@ "MESH:C562626" "NIF_Subcellular:sao1881364067" "Wikipedia:Endoplasmic_reticulum#Rough_endoplasmic_reticulum" - "PMID:30959515" - "PMID:16708394" - " CLO:0008750" + "PMID:35347128" "RRID:CVCL_0513" + " CLO:0008750" "BTO:0002874" "CLO:0008749" + "PMID:30959515" + "PMID:16708394" "SNOMEDCT_US:79890006" "UMLS:C0003123" - "PMID:35347128" "UMLS:C0016242" "SNOMEDCT_US:15013002" "UMLS:C1720491" @@ -56673,9 +56673,9 @@ "OMIM:187350" "Orphanet:98575" "MESH:C562941" + "PMID:35347128" "ICD10:O65" "UMLS:C4020869" - "PMID:35347128" "MEDGEN:57645" "NCIT:C99248" "ICD10CM:P70.2" @@ -56829,6 +56829,7 @@ "MA:0000324" "EV:0100088" "MBA:403" + "neuronames:241" "FMA:61817" "SCTID:278251007" "MA:0000133" @@ -56846,7 +56847,6 @@ "EMAPA:16653" "UMLS:C0242202" "BTO:0000231" - "neuronames:241" "MEDGEN:1717586" "UMLS:C5393570" "OMIM:606176" @@ -56945,8 +56945,8 @@ "SCTID:15250008" "NCIT:C26731" "ICD9:371.30" - "UMLS:C0010034" "ICD9:371.9" + "UMLS:C0010034" "MONDO:0000942" "ICD9:371.89" "DOID:10124" @@ -57454,11 +57454,11 @@ "OMIM:612968" "ICD10:Q12.0" "OMIM:605387" + "PMID:24816252" "MESH:C563624" "OMIM:151620" "UMLS:C1835402" "MEDGEN:372036" - "PMID:24816252" "PMID:27060140" "MEDGEN:371361" "UMLS:C1832586" @@ -57988,10 +57988,10 @@ "Orphanet:199647" "UMLS:C5680519" "PMID:19347970" + "NCIt:C4721" "ZFA:0009288" "FMA:70567" "NCIt:C33401" - "NCIt:C4721" " CLO:0051423" "CLO:0007492" " CLO:0007494" @@ -58276,8 +58276,8 @@ "GARD:16926" "MEDGEN:226853" "ICDO:9508/3" - "ONCOTREE:ATRT" "Orphanet:99966" + "ONCOTREE:ATRT" "EFO:1002008" "UMLS:C1266184" "NCIT:C6906" @@ -58678,11 +58678,11 @@ "UMLS:C0014356" "MedDRA:10014893" "OMIM:226150" + "ICD9:239.89" "MEDGEN:44322" "NCIT:C3221" "UMLS:C0025063" "SCTID:126725000" - "ICD9:239.89" "DOID:9544" "MEDGEN:75844" "NCIT:C7813" @@ -58853,7 +58853,6 @@ "MESH:C564743" "UMLS:C1848552" "PMID:35995766" - "PMID:35347128" "MESH:D029241" "GARD:11972" "Orphanet:98672" @@ -58861,6 +58860,7 @@ "UMLS:C4551508" "SCTID:2065009" "MEDGEN:1647918" + "PMID:35347128" "UMLS:C4510809" "OMIM:269300" "MEDGEN:1382152" @@ -59398,6 +59398,7 @@ "Orphanet:93926" "UMLS:CN206692" "PMID:33283231" + "BTO:0000650" "SCTID:361339003" "EMAPA:35305" "ZFA:0001260" @@ -59408,10 +59409,9 @@ "VHOG:0000049" "NCIT:C32509" "EFO:0002542" - "MA:0001582" "TAO:0001260" + "MA:0001582" "Wikipedia:Islets_of_Langerhans" - "BTO:0000650" "MEDGEN:444052" "Orphanet:1295" "OMIM:113480" @@ -60037,13 +60037,13 @@ "RRID:CVCL_1629" "BTO:0003054" "NCIt:C117208" - "OMIM:610042" - "ICD10:Q04.8" "GARD:16157" "OMIM:616760" "MEDGEN:902275" "UMLS:C4225214" "DOID:0111574" + "OMIM:610042" + "ICD10:Q04.8" "SCTID:93151007" "ICD9:202.47" "UMLS:C1336064" @@ -60326,12 +60326,12 @@ "ZFA:0009326" "BTO:0002070" "PMID:27477910" + "ICD10:G11.4" + "OMIM:248900" "OMIM:145600" "MeSH:C536883" "ICD10:G71.2" "UMLS:C1840365" - "ICD10:G11.4" - "OMIM:248900" "NCIT:C40214" "UMLS:C1516417" "MEDGEN:275711" @@ -61605,9 +61605,6 @@ "Orphanet:209196" "MEDGEN:1842345" "GARD:20437" - "UMLS:C0265260" - "OMIM:200700" - "ICD10:Q78.8" "FMA:9906" "EV:0100374" "ZFA:0000142" @@ -61618,6 +61615,9 @@ "BTO:0001832" "MAT:0000100" "EHDAA:3769" + "UMLS:C0265260" + "OMIM:200700" + "ICD10:Q78.8" "PMID:29875488" "Orphanet:79179" "GARD:18958" @@ -61830,6 +61830,7 @@ "MEDGEN:1726910" "Orphanet:63440" "SCTID:48069004" + "FBbt:00005548" "SCTID:397428000" "SNOMEDCT:397428000" "Orphanet:1679" @@ -61848,7 +61849,6 @@ "GARD:1875" "NCIT:C34541" "ICD10CM:A36" - "FBbt:00005548" "RRID:CVCL_0095" "FMA:14337" "galen:HepaticVein" @@ -61907,8 +61907,6 @@ "OMIMPS:108600" "Orphanet:98353" "GARD:19449" - "ICD10:Q87.0" - "OMIM:608432" "ICD10:Q74.8" "OMIM:200500" "ORDO:931" @@ -61916,6 +61914,8 @@ "MeSH:C536014" "UMLS:C0265559" "Wikipedia:Acheiropodia" + "ICD10:Q87.0" + "OMIM:608432" "PMID:29875488" "MEDGEN:56207" "NCIT:C3495" @@ -62324,6 +62324,18 @@ "OMIM:607196" "MeSH:C538247" "PMID:28240269" + "UMLS:C0020441" + "MedDRA:10020596" + "MESH:D006936" + "DOID:12733" + "ICD9:521.5" + "MEDGEN:9360" + "SNOMEDCT:78537008" + "SCTID:78537008" + "MeSH:D006936" + "ICD10CM:K03.4" + "MONDO:0006790" + "ICD10:K03.4" "DOID:0110275" "Orphanet:267" "SCTID:715341003" @@ -62338,18 +62350,6 @@ "Orphanet:477787" "OMIM:618372" "MEDGEN:1799074" - "UMLS:C0020441" - "MedDRA:10020596" - "MESH:D006936" - "DOID:12733" - "ICD9:521.5" - "MEDGEN:9360" - "SNOMEDCT:78537008" - "SCTID:78537008" - "MeSH:D006936" - "ICD10CM:K03.4" - "MONDO:0006790" - "ICD10:K03.4" "NCIT:C4614" "SCTID:255184001" "UMLS:C0347390" @@ -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" @@ -63200,6 +63200,7 @@ "MeSH:D001799" "SNOMEDCT:416560009" "FBdv:00005301" + "PMID:29875488" "MeSH:D013547" "SCTID:238758008" "MONDO:0007753" @@ -63208,7 +63209,6 @@ "OMIM:144100" "UMLS:C0038994" "DOID:11599" - "PMID:29875488" "PMID:29875488" "Orphanet:98038" "ICD10:N75" @@ -63788,13 +63788,13 @@ "OMIM:156700" "MeSH:C537552" "ICD10:Q15.8" - "PMID:29875488" "Orphanet:2215" "MESH:C565679" "UMLS:C1857576" "OMIM:217150" "MEDGEN:347490" "GARD:3361" + "PMID:29875488" "MeSH:D016974" "SNOMEDCT:430612001" "SNOMEDCT:421225004" @@ -64159,9 +64159,9 @@ "NCIt:C86757" "SNOMEDCT:60875001" "UMLS:C1859680" - "Orphanet:98631" "OMIM:270750" "ICD10:G11.4" + "Orphanet:98631" "PMID:34814699" "PMID:28240269" "ICD10:Q82.8" @@ -64404,7 +64404,6 @@ "NCIT:C12833" "UMLS:C0149603" "ICD10:E85.0" - "NCIt:C6890" "MESH:C567466" "Orphanet:163937" "UMLS:C2677903" @@ -64412,6 +64411,7 @@ "MEDGEN:437070" "DOID:0060807" "OMIM:300749" + "NCIt:C6890" "MESH:D017074" "MedDRA:10021449" "NCIT:C26725" @@ -64563,8 +64563,8 @@ "Orphanet:52056" "MEDGEN:324890" "SCTID:719843001" - "Orphanet:98718" "UMLS:C1859391" + "Orphanet:98718" "CSP:2049-9000" "DOID:0060054" "NCIT:C27033" @@ -64685,8 +64685,8 @@ "MeSH:D004967" "UMLS:C1858430" "UMLS:C1844947" - "PMID:28240269" "PMID:35347128" + "PMID:28240269" "OMIM:614172" "Orphanet:228423" "DOID:0111947" @@ -64908,9 +64908,9 @@ "MEDGEN:766782" "UMLS:C3553868" "OMIM:614849" + "NCIt:C4051" "NCIt:C27273" "MeSH:D057091" - "NCIt:C4051" "SCTID:715820004" "MEDGEN:900624" "UMLS:C4274992" @@ -64937,16 +64937,16 @@ "MAT:0000491" "MeSH:D001105" "NCIt:C61092" - "PMID:29875488" "UMLS:C4025857" "UMLS:C1857078" + "PMID:29875488" "Reaxys:1714841" "HMDB:HMDB0011172" "PMID:22770225" - "ICD10:E77.8" - "OMIM:612015" "OMIM:103300" "ICD10:Q87.2" + "ICD10:E77.8" + "OMIM:612015" "UMLS:C1860130" "PMID:29875488" "UMLS:C5680608" @@ -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" @@ -66268,12 +66268,12 @@ "UMLS:C0034194" "NCIt:C139066" "UMLS:C1865847" + "PMID:35347128" "MedDRA:10084410" "MeSH:C538184" "UMLS:C0265245" "ICD10:Q75.4" "OMIM:154400" - "PMID:35347128" "ZFS:0000023" "GARD:386" "MEDGEN:419746" @@ -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" @@ -67340,6 +67340,7 @@ "OMIM:610422" "OMIM:618840" "OMIM:203650" + "PMID:28240269" "PMID:23823483" "galen:Vagina" "MAT:0000128" @@ -67358,7 +67359,6 @@ "UMLS:C0042232" "Wikipedia:Vagina" "BTO:0000243" - "PMID:28240269" "OMIMPS:616355" "UMLS:C0435632" "SNOMEDCT_US:20511007" @@ -67763,11 +67763,6 @@ "GARD:10898" "GO:0009314" "PMID:30631343" - "PMID:29875488" - "NCIT:C6148" - "UMLS:C1377909" - "MEDGEN:237178" - "DOID:5973" "UMLS:C0085438" "SNOMEDCT:24321005" "ICD9:117.9" @@ -67779,6 +67774,11 @@ "DOID:11608" "MeSH:D016921" "MESH:D016921" + "PMID:29875488" + "NCIT:C6148" + "UMLS:C1377909" + "MEDGEN:237178" + "DOID:5973" "PMID:28240269" "PMID:29875488" "PMID:9520362" @@ -68373,8 +68373,8 @@ "MGI:2164831" "BTO:0006508" "RRID:CVCL_6298" - "PMID:29875488" "PMID:29875488" + "PMID:29875488" "EMAPA:16092" "ZFA:0000417" "TAO:0000417" @@ -68734,7 +68734,6 @@ "SNOMEDCT:76479006" "OMIM:278760" "ICD10:Q82.1" - "PMID:37164013" "DOID:11339" "ICD9:136.3" "ICD10CM:B59" @@ -68756,6 +68755,7 @@ "SCTID:239112008" "MedDRA:10014985" "Orphanet:35125" + "PMID:37164013" "Orphanet:98910" "ICD9:402.9" "MEDGEN:508889" @@ -68885,6 +68885,7 @@ "MeSH:C536861" "ICD10:G11.4" "PMID:28240269" + "https://www.breastcancer.org/symptoms/diagnosis/hormone_status" "NORD:1258" "NCIT:C98949" "DOID:4626" @@ -68896,7 +68897,6 @@ "GARD:6681" "icd11.foundation:1963574608" "SCTID:30023002" - "https://www.breastcancer.org/symptoms/diagnosis/hormone_status" "MEDGEN:1842372" "GARD:20683" "UMLS:C5680704" @@ -69152,9 +69152,17 @@ "MESH:D014389" "MeSH:D014389" "SNOMEDCT:240379005" - "SCTID:240379005" "MEDGEN:52886" + "SCTID:240379005" "DOID:8024" + "PMID:31046077" + "UMLS:C0549423" + "ICD10CM:G91.1" + "DOID:14159" + "NCIT:C116347" + "ICD9:331.4" + "MEDGEN:108198" + "SCTID:230746009" "EFO:1001273" "NCIT:C28244" "UMLS:C0346010" @@ -69168,14 +69176,6 @@ "Orphanet:122" "MEDGEN:91070" "ICD9:704.8" - "PMID:31046077" - "UMLS:C0549423" - "ICD10CM:G91.1" - "DOID:14159" - "NCIT:C116347" - "ICD9:331.4" - "MEDGEN:108198" - "SCTID:230746009" "UMLS:C5676924" "MEDGEN:1808634" "OMIM:619761" @@ -69207,6 +69207,12 @@ "MedGen:C1864399" "DI:00917" "MeSH:D018901" + "MedDRA:10071094" + "OMIM:120100" + "ICD10:L50.2" + "MedDRA:10064570" + "OMIM:616115" + "UMLS:C0343068" "MEDGEN:501111" "Orphanet:2297" "OMIM:610549" @@ -69214,12 +69220,6 @@ "NCIT:C131836" "MESH:C562710" "UMLS:C0342278" - "MedDRA:10071094" - "OMIM:120100" - "ICD10:L50.2" - "MedDRA:10064570" - "OMIM:616115" - "UMLS:C0343068" "SCTID:31712002" "NANDO:1200439" "ICD9:571.6" @@ -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" @@ -70477,8 +70477,8 @@ "EFO:1001000" "MEDGEN:60197" "ONCOTREE:PAOS" - "SNOMEDCT:437787005" "Wikipedia:Stress-related_disorders" + "SNOMEDCT:437787005" "PMID:22609625" "SCTID:718679004" "UMLS:C3150946" @@ -70752,7 +70752,6 @@ "UMLS:C1708781" "MONDO:0006279" "SCTID:707460002" - "PMID:33634981" "SCTID:38993008" "OMIM:190320" "MESH:C536549" @@ -70763,6 +70762,7 @@ "ICD9:759.89" "GARD:7799" "NORD:1786" + "PMID:33634981" "MESH:C538283" "OMIM:212710" "Orphanet:1368" @@ -70901,7 +70901,6 @@ "MEDGEN:137919" "Orphanet:98664" "UMLS:C0339508" - "PMID:29875488" "PMID:29875488" "DOID:3508" "ICD9:593.3" @@ -70913,6 +70912,7 @@ "ICD9:239.7" "SCTID:126971002" "UMLS:C1263897" + "PMID:29875488" "PMID:29500382" "NCIT:C3733" "MEDGEN:64621" @@ -71051,16 +71051,16 @@ "MEDGEN:2876" "MESH:D002296" "DOID:4236" + "CLO:0050174" + "RRID:CVCL_5419" + "SNOMEDCT:263844007" + "NCIt:C81317" "NCIT:C6794" "DOID:6270" "UMLS:C1333763" "MONDO:0003834" "MEDGEN:234295" "EFO:1001252" - "CLO:0050174" - "RRID:CVCL_5419" - "SNOMEDCT:263844007" - "NCIt:C81317" "PMID:28240269" "OMIM:184095" "ICD10:Q77.7" @@ -71247,12 +71247,12 @@ "SCTID:89057003" "DOID:9021" "PMID:34619205" - "PMID:33634981" "MEDGEN:1637212" "GARD:18630" "SCTID:84048006" "OMIM:227300" "UMLS:C4551981" + "PMID:33634981" "PMID:35773277" "RRID:CVCL_EQ22" "BTO:0006394" @@ -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" @@ -71654,11 +71654,6 @@ "ICD10:J90" "RRID:CVCL_M912" "PMID:7433105" - "UMLS:C0265235" - "OMIM:154780" - "MeSH:C536025" - "ICD10:Q87.0" - "NIFSTD:birnlex_577" "TGMA:0000005" "MAT:0000297" "BTO:0000420" @@ -71670,9 +71665,14 @@ "OMIM:619184" "MEDGEN:1782253" "DOID:0112358" + "UMLS:C0265235" + "OMIM:154780" + "MeSH:C536025" + "ICD10:Q87.0" "MEDGEN:1824055" "OMIM:620185" "UMLS:C5774282" + "NIFSTD:birnlex_577" "MedDRA:10071719" "NORD:1768" "ICD9:759.89" @@ -71835,8 +71835,6 @@ "MEDGEN:233407" "NCIT:C7353" "Orphanet:98590" - "OMIM:604801" - "ICD10:G71.2" "NCIT:C113400" "ICD10CM:K76.7" "MEDGEN:9224" @@ -71845,6 +71843,8 @@ "MESH:D006530" "ICD9:572.4" "SCTID:51292008" + "OMIM:604801" + "ICD10:G71.2" "MEDGEN:1843485" "MedDRA:10015907" "MONDO:0005551" @@ -71976,20 +71976,20 @@ "MO:779" "SNOMEDCT:69297003" "NCIt:C68779" + "PMID:28240269" "ZFA:0009140" "MESH:D010586" "FMA:83806" "BTO:0001044" - "PMID:28240269" + "MONDO:0005287" + "MeSH:D002658" + "MESH:D002658" "DOID:0110650" "GARD:10435" "OMIM:611818" "MEDGEN:395635" "UMLS:C2678485" "MESH:C567515" - "MONDO:0005287" - "MeSH:D002658" - "MESH:D002658" "PMID:29875488" "PMID:33723576" "NCIT:C3810" @@ -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" @@ -72982,10 +72982,10 @@ "PMID:29875488" "OMIM:601238" "ICD10:G11.0" - "Wikipedia:Maculopapular_rash" "UMLS:C3163843" "DOID:0050897" "MEDGEN:756255" + "Wikipedia:Maculopapular_rash" "PMID:34619205" "PMID:28240269" "SNOMEDCT:303256005" @@ -73204,12 +73204,12 @@ "MEDGEN:400144" "PMID:33634981" "PMID:35347128" + "PMID:29875488" "NCIT:C114666" "SCTID:87696004" "UMLS:C0085692" "MEDGEN:508360" "DOID:0050859" - "PMID:29875488" "UMLS:C0006271" "SCTID:4120002" "NCIT:C39658" @@ -73664,6 +73664,10 @@ "GO:0005623\n" "KUPO:0000002" "UMLS:C0854107" + "OMIM:602535" + "ICD10:Q87.3" + "MeSH:C536026" + "UMLS:C0265211" "RRID:CVCL_R864" "OMIM:617393" "UMLS:C4479333" @@ -73674,10 +73678,6 @@ "MEDGEN:1668494" "UMLS:C4749400" "GARD:21789" - "OMIM:602535" - "ICD10:Q87.3" - "MeSH:C536026" - "UMLS:C0265211" "SCTID:59393003" "Orphanet:387" "ICD10CM:L73.2" @@ -73689,6 +73689,7 @@ "MEDGEN:57993" "MedDRA:10020041" "MONDO:0006559" + "PMID:35347128" "JAX:004435" "NANDO:1200317" "OMIM:274150" @@ -73700,7 +73701,6 @@ "UMLS:C1268935" "MEDGEN:224783" "ICD9:287.33" - "PMID:35347128" "MESH:D001139" "NCIT:C84570" "MEDGEN:2065" @@ -73744,7 +73744,6 @@ "MEDGEN:1823986" "UMLS:C5774213" "DOID:0070536" - "ICD10:Q87.0" "MEDGEN:162773" "Orphanet:96098" "MESH:C537810" @@ -73764,6 +73763,7 @@ "PMID:17439666" "PMID:22264337" "KEGG:C01401" + "ICD10:Q87.0" "NANDO:2201196" "MEDGEN:75665" "SCTID:238026007" @@ -73831,10 +73831,10 @@ "NORD:1863" "FMA:84643" "FMA:84645" + "PMID:29875488" "UMLS:C5543635" "OMIM:619426" "MEDGEN:1785087" - "PMID:29875488" "PMID:35995766" "PMID:33634981" "NCIT:C102570" @@ -74023,6 +74023,7 @@ "MEDGEN:96058" "SCTID:20343006" "MESH:C537186" + "PMID:28846088" "PMID:26268530" "NCIT:C3500" "SCTID:95663000" @@ -74030,7 +74031,6 @@ "MEDGEN:68610" "DOID:683" "MESH:D009443" - "PMID:28846088" "Beilstein:91866" "PMID:14971904" "PMID:23861085" @@ -74321,7 +74321,9 @@ "MedDRA:10038262" "MeSH:D005764" "NCIT:C26781" - "NCIt:C753" + "UMLS:C2751683" + "MeSH:C538119" + "ICD10:Q43.1" "GARD:369" "OMIM:303110" "MESH:C537793" @@ -74329,9 +74331,7 @@ "Orphanet:1435" "SCTID:717761005" "MEDGEN:763933" - "UMLS:C2751683" - "MeSH:C538119" - "ICD10:Q43.1" + "NCIt:C753" "UMLS:C0020595" "SNOMEDCT_US:60086000" "UMLS:C1846226" @@ -74686,14 +74686,14 @@ "SNOMEDCT_US:400006008" "SNOMEDCT_US:51398009" "PMID:29875488" - "EC:1.1.1.49" - "MetaCyc:GLU6PDEHYDROG-RXN" - "RHEA:15841" - "Reactome:R-HSA-70377" "ICD10:Q87.8" "MeSH:C537411" "UMLS:C1837822" "OMIM:608572" + "EC:1.1.1.49" + "MetaCyc:GLU6PDEHYDROG-RXN" + "RHEA:15841" + "Reactome:R-HSA-70377" "PMID:33634981" "UMLS:C4706525" "SCTID:763624007" @@ -75313,15 +75313,15 @@ "DOID:295" "MEDGEN:208855" "NCIT:C6079" + "OMIM:190900" + "Wikipedia:Color_blindness" + "ICD10:H53.5" "ICD10:Q93.5" "MEDGEN:138080" "SCTID:271956003" "UMLS:C0347285" "NCIT:C4613" "DOID:0080781" - "OMIM:190900" - "Wikipedia:Color_blindness" - "ICD10:H53.5" "MEDGEN:375546" "SCTID:720746006" "GARD:1515" @@ -75401,11 +75401,11 @@ "MESH:C535311" "MEDGEN:108273" "GARD:5663" - "OMIM:300858" "UMLS:C1332922" "MEDGEN:234116" "NCIT:C7346" "MESH:D065310" + "OMIM:300858" "SCTID:719840003" "OMIM:266910" "Orphanet:3404" @@ -75414,9 +75414,9 @@ "MEDGEN:376585" "UMLS:C1849438" "PMID:29875488" + "UMLS:C1846418" "OMIM:607339" "MEDGEN:375884" - "UMLS:C1846418" "Orphanet:325632" "GARD:21478" "UMLS:C2931228" @@ -75665,10 +75665,10 @@ "OMIM:145100" "UMLS:C0155211" "PMID:29875488" + "MEDGEN:235310" "NCIT:C6619" "DOID:5292" "UMLS:C1334660" - "MEDGEN:235310" "OMIM:600776" "MEDGEN:322166" "MESH:C537767" @@ -75824,14 +75824,14 @@ "SNOMEDCT_US:48522003" "PMID:35347128" "RRID:CVCL_Z705" - "PMID:28240269" - "PMID:29212900" "MeSH:D011164" "SNOMEDCT:29094004" "SNOMEDCT:371628009" "SNOMEDCT:190916001" "DOID:13268" "ICD9:277.1" + "PMID:29212900" + "PMID:28240269" "UMLS:C2112129" "UMLS:C4020865" "NCIt:C112934" @@ -76173,10 +76173,10 @@ "SCTID:55821006" "NORD:738" "ICD10:Q87.8" + "PMID:29875488" "UMLS:C1868773" "MEDGEN:1806599" "DOID:0050850" - "PMID:29875488" "DOID:0070021" "MEDGEN:462794" "UMLS:C3151444" @@ -76734,9 +76734,9 @@ "MEDGEN:322520" "UMLS:C1834880" "OMIM:157151" - "PMID:29875488" "UMLS:C0497327" "SNOMEDCT_US:52448006" + "PMID:29875488" "Wikipedia:Steroid_metabolisms#Steroid_biosynthesis" "Orphanet:68378" "UM-BBD_pathwayID:met" @@ -76822,6 +76822,10 @@ "MeSH:D042806" "SNOMEDCT:54915000" "NCIt:C86604" + "DOID:3517" + "UMLS:C1333156" + "MEDGEN:232393" + "NCIT:C9429" "ICD9:277.82" "GARD:5104" "OMIM:212140" @@ -76835,10 +76839,6 @@ "Orphanet:158" "NCIT:C98864" "UMLS:C0342788" - "DOID:3517" - "UMLS:C1333156" - "MEDGEN:232393" - "NCIT:C9429" "DOID:1203" "ICD9:292.8" "UMLS:C0154330" @@ -77337,7 +77337,6 @@ "OMIM:231060" "MESH:C537683" "GARD:2460" - "PMID:29875488" "OMIM:601076" "UMLS:C4305568" "GARD:5513" @@ -77346,6 +77345,7 @@ "DOID:0112179" "icd11.foundation:1521808255" "SCTID:717705004" + "PMID:29875488" "KEGG COMPOUND:C01262" "HMDB:0000194" "UMLS:C0432130" @@ -77583,12 +77583,12 @@ "GARD:21404" "PMID:24816252" "PMID:31626034" - "OMIM:615073" - "ICD10:G24.1" "UMLS:C1850553" "OMIM:256120" "MeSH:C536401" "ICD10:Q87.8" + "OMIM:615073" + "ICD10:G24.1" "ICD9:621.31" "SCTID:198324001" "NCIT:C35463" @@ -77609,10 +77609,10 @@ "GARD:15251" "OMIM:607250" "ICD10:G60.2" + "PMID:29875488" "MeSH:D009153" "Wikipedia:Mutagen" "NCIt:C672" - "PMID:29875488" "PMID:29532581" "NCIt:C71624" "UMLS:C0931849" @@ -77843,12 +77843,12 @@ "SCTID:230247001" "UMLS:C0393541" "MEDGEN:98274" - "DOID:0081304" - "UMLS:C5670122" - "MEDGEN:1812304" "GARD:1155" "MESH:C538287" "Orphanet:1377" + "DOID:0081304" + "UMLS:C5670122" + "MEDGEN:1812304" "EFO:0003451" "TAO:0001213" "ZFA:0001213" @@ -78046,20 +78046,20 @@ "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" "DOID:5299" "MEDGEN:124655" "MONDO:0006191" "EFO:1000231" + "FBbt:00004482" "MEDGEN:1826152" "Orphanet:93562" "GARD:19226" @@ -78189,8 +78189,8 @@ "ICD10:Q43.1" "Orphanet:68419" "GARD:18894" - "DOID:7959" "MEDGEN:272550" + "DOID:7959" "NCIT:C5731" "UMLS:C1333321" "UMLS:C2931804" @@ -78213,17 +78213,17 @@ "DOID:0080311" "MESH:C537456" "PMID:29875488" + "OMIM:618608" "MEDGEN:569650" "UMLS:C0334346" "ICDO:8401/3" "NCIT:C4169" "DOID:4933" - "OMIM:618608" + "PMID:29535761" "UMLS:C1514430" "DOID:4011" "NCIT:C39898" "MEDGEN:271382" - "PMID:29535761" "BTO:0001072" "NCIt:C12806" "PMID:35668104" @@ -79864,8 +79864,8 @@ "GARD:21297" "EFO:1000479" "NCIT:C8893" - "MONDO:0006374" "MEDGEN:167782" + "MONDO:0006374" "UMLS:C0855173" "SCTID:448401007" "DOID:2024" @@ -80670,6 +80670,7 @@ "PBA:4001" "NCIT:C12447" "OMIM:615688" + "ICD10:Q10.3" "NCIt:C12594" "BTO:0001780" "FMA:62901" @@ -80687,7 +80688,6 @@ "Orphanet:99978" "MONDO:0003345" "UMLS:C0206702" - "ICD10:Q10.3" "GARD:20804" "UMLS:C5679663" "Orphanet:261841" @@ -81017,6 +81017,10 @@ "MEDGEN:83358" "Orphanet:141269" "GARD:19970" + "UMLS:C5680249" + "GARD:19342" + "MEDGEN:1843183" + "Orphanet:96193" "OMIM:223400" "GARD:54" "ICD9:751.1" @@ -81030,10 +81034,6 @@ "SCTID:51118003" "MedDRA:10013812" "DOID:0080216" - "UMLS:C5680249" - "GARD:19342" - "MEDGEN:1843183" - "Orphanet:96193" "FMA:55022" "NCIt:C12232" "Chemspider:65998480" @@ -81502,7 +81502,6 @@ "VHOG:0000369" "EMAPA:17315" "BTO:0001702" - "PMID:29875488" "MEDGEN:414346" "OMIM:613094" "DOID:0060836" @@ -81512,6 +81511,7 @@ "FBbt:00004482" "EFO:0001927" "BTO:0004711" + "PMID:29875488" "NANDO:2200251" "OMIM:605067" "icd11.foundation:845891723" @@ -81579,6 +81579,9 @@ "MONDO:0005769" "GARD:7525" "ICD10EXP:B02.2+" + "OMIM:268100" + "ICD10:H35.5" + "UMLS:C0339541" "PMID:35347128" "UMLS:C1336904" "NCIT:C27246" @@ -81586,9 +81589,6 @@ "DOID:8187" "DOID:8188" "MEDGEN:234466" - "OMIM:268100" - "ICD10:H35.5" - "UMLS:C0339541" "MONDO:0004969" "MEDGEN:1843474" "NCIm:C1135345" @@ -81787,8 +81787,8 @@ "RRID:CVCL_C528" "BTO:0006010" "PMID:28240269" - "PMID:28240269" "OMIM:154000" + "PMID:28240269" "UMLS:C0028850" "MONDO:0001584" "SCTID:45030009" @@ -81850,10 +81850,10 @@ "OMIM:311300" "OMIM:304120" "ICD10:Q87.0" - "PMID:30475886" "NCIT:C7091" "UMLS:C1333798" "MEDGEN:234305" + "PMID:30475886" "PMID:29875488" "PMID:36168886" "PMID:28011148" @@ -82002,8 +82002,8 @@ "OMIM:305700" "MESH:D054331" "DOID:0050457" - "MEDGEN:235163" "MeSH:D054331" + "MEDGEN:235163" "ICD9:752.89" "NCIT:C168988" "MONDO:0010595" @@ -82097,30 +82097,18 @@ "ICD9:336.8" "MESH:D013118" "NCIt:C64814" - "MFOMD:0000143" "MeSH:D003865" - "ICD9:296.20" "SNOMEDCT:370143000" - "MEDGEN:266123" "DOID:2848" "SNOMEDCT:300706003" - "UMLS:C1269683" - "SCTID:300706003" "DOID:1470" "MedDRA:10045543" - "ICD9:296.2" - "ICD9:296.30" "DOID:1595" "NCIt:C35094" - "NCIT:C35094" - "ICD9:296.3" "ICD10:F32" "SNOMEDCT:321717001" "ICD10:F33" - "MESH:D003865" - "MONDO:0002009" "OMIM:608516" - "SCTID:370143000" "NCIt:C812" "NIFSTD:sao1843715402" "CAS:63231-63-0" @@ -83024,13 +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" @@ -83265,24 +83253,24 @@ "BTO:0005518" "RRID:CVCL_B260" "PMID:23823483" - "Orphanet:2756" - "MEDGEN:322280" - "GARD:4061" - "DOID:0060380" - "UMLS:C1833796" - "SCTID:722075004" - "OMIM:165590" - "MESH:C563491" "UMLS:C0026638" "BTO:0006184" "EFO:0001923" "MESH:D009060" "FMA:86592" - "GAID:1283" "EMAPA:37911" + "GAID:1283" "CALOHA:TS-2207" "SCTID:245786002" "NCIT:C54187" + "Orphanet:2756" + "MEDGEN:322280" + "GARD:4061" + "DOID:0060380" + "UMLS:C1833796" + "SCTID:722075004" + "OMIM:165590" + "MESH:C563491" "PO:0020121" "GARD:21554" "Orphanet:363582" @@ -83624,7 +83612,6 @@ "UMLS:C0339369" "PMID:28240269" "Wikipedia:Auxin" - "PMID:35347128" "UMLS:C0349632" "ONCOTREE:SMZL" "ICDO:9689/3" @@ -83638,6 +83625,7 @@ "MEDGEN:138108" "GARD:19072" "ICD10:C83.0" + "PMID:35347128" "Orphanet:642099" "OMIM:271640" "MEDGEN:865814" @@ -83677,13 +83665,6 @@ "PMID:22309095" "PMID:35347128" "PMID:24816252" - "ONCOTREE:SCCE" - "NCIT:C7982" - "MEDGEN:79025" - "MONDO:0006142" - "EFO:1000171" - "DOID:6740" - "UMLS:C0279674" "GARD:13423" "UMLS:C5567524" "OMIM:616878" @@ -83691,6 +83672,13 @@ "NORD:1944" "DOID:0081386" "MEDGEN:1798947" + "ONCOTREE:SCCE" + "NCIT:C7982" + "MEDGEN:79025" + "MONDO:0006142" + "EFO:1000171" + "DOID:6740" + "UMLS:C0279674" "OMIM:309585" "OMIM:614302" "MEDGEN:765974" @@ -84118,14 +84106,14 @@ "SCTID:448674007" "MEDGEN:509332" "ICD9:183.4" - "BTO:0004469" - "RRID:CVCL_6832" "Orphanet:363623" "OMIM:615352" "GARD:12544" "MEDGEN:1377325" "DOID:0110294" "UMLS:C4518000" + "BTO:0004469" + "RRID:CVCL_6832" "PMID:33067605" "TAO:0001309" "Wikipedia:Neurogenic_placodes" @@ -84447,8 +84435,8 @@ "PMID:24247716" "PMID:31119342" "Beilstein:2056095" - "PMID:31280197" "CAS:56-53-1" + "PMID:31280197" "PMID:30049842" "Drug_Central:875" "PMID:21852823" @@ -84589,15 +84577,15 @@ "MedDRA:10046950" "DOID:2170" "MeSH:D014627" - "PMID:29875488" "MeSH:D048230" "SNOMEDCT:89651003" + "PMID:29875488" "UMLS:C4073168" "PMID:29230059" - "OMIM:618635" "DOID:3001" "MONDO:0002480" "UMLS:C0474809" + "OMIM:618635" "ICD10:H35.0" "OMIM:617341" "OMIM:612199" @@ -84708,9 +84696,9 @@ "SNOMEDCT:1017006" "NCIt:C86476" "MeSH:D007780" + "PMID:24816252" "NCIt:C78718" "MedDRA:10047924" - "PMID:24816252" "FBbt:00005062" "MEDGEN:224861" "Orphanet:86845" @@ -84867,11 +84855,11 @@ "Orphanet:178557" "PMID:35347128" "PMID:29875488" + "OMIM:608154" + "ICD10:Q78.8" "UMLS:C0153474" "NCIT:C7487" "MEDGEN:56305" - "OMIM:608154" - "ICD10:Q78.8" "MEDGEN:347545" "UMLS:C1857780" "OMIM:610188" @@ -84971,13 +84959,13 @@ "Patent:DE2751258" "Patent:DE2751258 \"Patent\"" "DrugBank:DB00800 \"DrugBank\"" - "Wikipedia:Fenoldopam \"Wikipedia\"" "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" @@ -85247,12 +85235,12 @@ "DOID:8643" "ICD10CM:K29.8" "SCTID:72007001" - "RRID:CVCL_5040" "NANDO:2200089" "DOID:3183" "MEDGEN:76116" "UMLS:C0280475" "NCIT:C4045" + "RRID:CVCL_5040" "PMID:35347128" "BTO:0004733" "IDOMAL:0000443" @@ -85306,14 +85294,14 @@ "MEDGEN:9635" "MeSH:D007674" "DOID:557" - "OMIM:608389" - "OMIM:602588" - "OMIM:120502" - "ICD10:Q87.0" "MedDRA:10064569" "UMLS:C0268390" "ICD10:E85.0" "OMIM:191900" + "OMIM:608389" + "OMIM:602588" + "OMIM:120502" + "ICD10:Q87.0" "MedDRA:10018201" "NCIT:C84588" "DOID:1455" @@ -85765,12 +85753,12 @@ "Orphanet:84081" "SCTID:717187000" "MEDGEN:902988" + "PMID:28240269" "ICD10CM:B90-B94" "SCTID:123976001" "UMLS:C1264603" "MEDGEN:688819" "ICD9:139.8" - "PMID:28240269" "ICD10:Q87.8" "OMIM:139750" "UMLS:C1841693" @@ -85859,8 +85847,8 @@ "OMIM:618369" "MONDO:0003264" "SCTID:254702000" - "DOID:5063" "NCIT:C2922" + "DOID:5063" "ICDO:8094/3" "MESH:D002281" "UMLS:C0007118" @@ -86233,14 +86221,14 @@ "UMLS:C0206633" "ICDO:8860/0" "GARD:12024" + "OMIM:620236" + "MEDGEN:1824081" + "UMLS:C5774308" "NCIt:C34627" "MedDRA:10017382" "MESH:D005627" "ICD10:T95" "ICD10:T35" - "OMIM:620236" - "MEDGEN:1824081" - "UMLS:C5774308" "MEDGEN:463217" "UMLS:C3151867" "Wikipedia:Proton_pump_inhibitor" @@ -86583,6 +86571,9 @@ "MEDGEN:1803695" "UMLS:C5676898" "OMIM:619702" + "MEDGEN:934646" + "OMIM:617180" + "UMLS:C4310679" "OMIM:612394" "MONDO:0019316" "MEDGEN:22588" @@ -86599,9 +86590,6 @@ "OMIM:154800" "Orphanet:79457" "NCIT:C3433" - "MEDGEN:934646" - "OMIM:617180" - "UMLS:C4310679" "RRID:CVCL_T012" "PMID: 8394948" "MONDO:0006474" @@ -86843,8 +86831,8 @@ "TAO:0001410" "BTO:0004687" "ZFA:0001410" - "FMA:53074" "galen:Orbit" + "FMA:53074" "Wikipedia:Orbit_(anatomy)" "MESH:D009915" "NCIT:C12347" @@ -86855,8 +86843,6 @@ "SNOMEDCT:440659006" "CiteXplore:11872840 \"PubMed citation\"" "PMID:11872840" - "Orphanet:271841" - "UMLS:CN202528" "MedDRA:10010652" "MESH:D014125" "GARD:18708" @@ -86895,6 +86881,8 @@ "OMIMPS:254780" "SCTID:230425004" "UMLS:C0751783" + "Orphanet:271841" + "UMLS:CN202528" "UMLS:C0151740" "MeSH:D019586" "NCIt:C84791" @@ -87393,12 +87381,6 @@ "MESH:C562385" "UMLS:C0085576" "OMIM:206200" - "UMLS:C2931894" - "OMIM:252500" - "ICD10:E77.0" - "MedDRA:10072928" - "MeSH:C538602" - "UMLS:C0020725" "Orphanet:226" "OMIM:261630" "UMLS:C0268465" @@ -87407,6 +87389,12 @@ "NCIT:C138173" "GARD:4319" "SCTID:58256000" + "UMLS:C2931894" + "OMIM:252500" + "ICD10:E77.0" + "MedDRA:10072928" + "MeSH:C538602" + "UMLS:C0020725" "EFO:0005287" "MESH:D008228" "UMLS:C0024302" @@ -87481,6 +87469,7 @@ "GARD:18784" "MEDGEN:904039" "PMID:29875488" + "PMID:36168886" "HP:0100817" "NCIt:C85044" "DOID:1591" @@ -87495,7 +87484,6 @@ "NANDO:2100016" "MONDO:0006947" "ICD9:405.91" - "PMID:36168886" "SCTID:726724005" "MEDGEN:401073" "UMLS:C1866745" @@ -87539,13 +87527,13 @@ "PMID:34503513" "UMLS:C4023407" "Fyler:4874" + "PMID:24816252" "CLO:0009017" "RRID:CVCL_0032" "BTO:0002210" - "PMID:24816252" + "PMID:28240269" "UMLS:C3277849" "MEDGEN:479479" - "PMID:28240269" "Orphanet:98959" "OMIM:612867" "UMLS:C2748503" @@ -87600,13 +87588,13 @@ "ICD10:Q87.1" "OMIM:210900" "MeSH:D001816" + "RRID:CVCL_C0HZ" + "PMID: 19881539" "ICD9:745.2" "MeSH:D013771" "DOID:6419" "NCIt:C84505" "SNOMEDCT:86299006" - "RRID:CVCL_C0HZ" - "PMID: 19881539" "MESH:C536026" "ICD9:759.89" "SCTID:73284007" @@ -87698,12 +87686,12 @@ "KEGG:C00487" "Wikipedia:Carnitine" "Reaxys:1866665" - "FBbt:00005510" "UMLS:C0264423" "DOID:0080820" "MESH:D059366" "MEDGEN:452342" "SCTID:57607007" + "FBbt:00005510" "MEDGEN:340597" "GARD:10316" "NCIT:C150608" @@ -87750,6 +87738,10 @@ "OMIM:300706" "ICD10:Q87.8" "PMID:29875488" + "ICD10:Q87.8" + "OMIM:600373" + "MeSH:C536434" + "UMLS:C1838180" "MEDGEN:1648474" "OMIM:214100" "DOID:0080476" @@ -87765,10 +87757,6 @@ "GAID:933" "VHOG:0000860" "MIAA:0000284" - "ICD10:Q87.8" - "OMIM:600373" - "MeSH:C536434" - "UMLS:C1838180" "UMLS:C0266294" "MedDRA:1005MedDRA:1001" "MedDRA:10053624" @@ -88988,14 +88976,14 @@ "MedDRA:10013830" "DOID:3558" "MeSH:D004380" - "SNOMEDCT:10546003" - "NCIt:C37901" "UMLS:C0154025" "NCIT:C3622" "NCIt:C3622" "SCTID:92068002" "MEDGEN:56328" "MONDO:0006105" + "SNOMEDCT:10546003" + "NCIt:C37901" "UMLS:C1832354" "SCTID:715529009" "Orphanet:3235" @@ -89339,7 +89327,6 @@ "UMLS:C4018860" "PMID:28240269" "PMID:35347128" - "PMID:23823483" "MEDGEN:9963" "DOID:10787" "ICD9:256.31" @@ -89397,6 +89384,7 @@ "UMLS:C3554687" "MEDGEN:767601" "Orphanet:357329" + "PMID:23823483" "Patent:US2898335" "Wikipedia:Nitrofurantoin" "PMID:22552451" @@ -89441,8 +89429,8 @@ "UMLS:C5190690" "MedDRA:10076851" "Wikipedia:Neointimal_hyperplasia" - "BTO:0003856" "RRID:CVCL_3985" + "BTO:0003856" "PMID:29875488" "MEDGEN:87561" "NCIT:C4567" @@ -89828,8 +89816,8 @@ "DOID:0070217" "MEDGEN:376153" "Orphanet:35878" - "PMID:24816252" "ICD10:G11.4" + "PMID:24816252" "PMID:28240269" "DSSTox_CID:37158" "CASRN:207137-56-2" @@ -90200,9 +90188,9 @@ "UMLS:C4025313" "ZFA:0000081" "PMID:31046077" - "PMID:29875488" "MedDRA:10065303" "MeSH:D058923" + "PMID:29875488" "UMLS:C0238033" "MEDGEN:68650" "SCTID:372095001" @@ -90304,8 +90292,8 @@ "ZFA:0000904" "PMID:29875488" "ZFS:0000030" - "PMID:35347128" "NCIt:C61015" + "PMID:35347128" "OMIM:615360" "DOID:0110217" "GARD:15950" @@ -90712,7 +90700,6 @@ "OMIM:614435" "UMLS:C3280795" "MedDRA:10021076" - "OMIM:617308" "EHDAA:7009" "FMA:9704" "WBbt:0005777" @@ -90722,6 +90709,7 @@ "BTO:0001409" "XAO:0000144" "WBbt:0004540" + "OMIM:617308" "PMID:20325309" "PMID:28316592" "DrugBank:DB01051" @@ -91139,7 +91127,6 @@ "MEDDRA:10034743" "SNOMEDCT_US:205091006" "UMLS:C0728829" - "PMID:35347128" "HMDB:HMDB0006547" "Beilstein:1712973" "Reaxys:1712973" @@ -91153,6 +91140,7 @@ "Patent:CA2827585" "PMID:24553695" "Patent:KR20130045846" + "PMID:35347128" "MEDGEN:233705" "NCIT:C5199" "UMLS:C1334753" @@ -91417,6 +91405,7 @@ "EHDAA:8124" "UMLS:C0029939" "PMID:28240269" + "UMLS:C1847514" "GARD:380" "Orphanet:1571" "MESH:C537209" @@ -91425,7 +91414,6 @@ "UMLS:C4551775" "MEDGEN:1642123" "ICD9:759.89" - "UMLS:C1847514" "MESH:C536739" "MEDGEN:140926" "DOID:0090060" @@ -92132,6 +92120,7 @@ "SCTID:47004009" "ICD9:784.49" "MESH:D013064" + "PMID:29875488" "PMID:35995766" "NCIT:C85072" "Orphanet:93962" @@ -92140,7 +92129,6 @@ "MEDGEN:101818" "ICD9:333.83" "DOID:0050840" - "PMID:29875488" "PMID:33634981" "OMIM:612674" "UMLS:C2675204" @@ -92674,8 +92662,8 @@ "GARD:18652" "MEDGEN:713680" "PMID:30134952" - "PMID:31530798" "PMID:29875488" + "PMID:31530798" "PMID:35347128" "MEDGEN:337124" "Orphanet:85297" @@ -92926,11 +92914,11 @@ "UMLS:C3897698" "NCIt:C117855" "PMID:28240269" + "PMID:29907492" "UMLS:C5680829" "Orphanet:207107" "GARD:20400" "MEDGEN:1843261" - "PMID:29907492" "MedDRA:10073655" "MONDO:0008675" "NORD:1161" @@ -93163,6 +93151,10 @@ "ICD9:758.5" "GARD:19418" "SCTID:429442006" + "UMLS:C0796038" + "MeSH:C538158" + "OMIM:248950" + "ICD10:Q87.8" "UMLS:C0856863" "UMLS:C0014871" "GAID:292" @@ -93171,10 +93163,6 @@ "MESH:D004943" "SCTID:362130006" "NCIT:C32668" - "UMLS:C0796038" - "MeSH:C538158" - "OMIM:248950" - "ICD10:Q87.8" "PMID:29875488" "DOID:10187" "UMLS:C1333455" @@ -93262,8 +93250,8 @@ "NCIT:C3242" "ICD10:C90.00" "Orphanet:29073" - "PMID:35347128" "GO:0004336" + "PMID:35347128" "MedDRA:10065551" "ICD10:F01.1" "OMIM:125310" @@ -93310,8 +93298,9 @@ "MEDGEN:1802087" "UMLS:C5676908" "OMIM:619725" - "UMLS:C4023476" "PMID:35668104" + "UMLS:C4023476" + "OMIM:607823" "SNOMEDCT:442143003" "EMAPA:28393" "Wikipedia:Distal_convoluted_tubule" @@ -93321,7 +93310,6 @@ "NCIT:C32469" "EV:0100389" "UMLS:C0022676" - "OMIM:607823" "MeSH:D052958" "GARD:21705" "Orphanet:401923" @@ -94477,6 +94465,16 @@ "PMID:26068415" "PMID:28240269" "FBbt:00017020" + "SCTID:702421006" + "NORD:1123" + "DOID:0050831" + "UMLS:C1858680" + "ICD9:348.39" + "GARD:10037" + "MEDGEN:346965" + "MESH:C536841" + "Orphanet:85110" + "OMIM:604218" "MEDGEN:45995" "DOID:2556" "NANDO:1200283" @@ -94497,16 +94495,6 @@ "NANDO:2100154" "MESH:D011081" "NANDO:2200428" - "SCTID:702421006" - "NORD:1123" - "DOID:0050831" - "UMLS:C1858680" - "ICD9:348.39" - "GARD:10037" - "MEDGEN:346965" - "MESH:C536841" - "Orphanet:85110" - "OMIM:604218" "Orphanet:178493" "SNOMEDCT:312898002" "MedDRA:10082754" @@ -95180,12 +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" @@ -95443,13 +95431,6 @@ "DOID:0050729" "PMID:33634981" "PMID:29875488" - "UMLS:C0406724" - "GARD:265" - "OMIM:601453" - "MESH:C536551" - "MEDGEN:96068" - "Orphanet:3351" - "SCTID:277810000" "DOID:5545" "MEDGEN:231063" "NCIT:C5603" @@ -95458,6 +95439,13 @@ "UMLS:C0085605" "SNOMEDCT_US:59927004" "ICD10:K72" + "UMLS:C0406724" + "GARD:265" + "OMIM:601453" + "MESH:C536551" + "MEDGEN:96068" + "Orphanet:3351" + "SCTID:277810000" "NCIt:C98776" "UMLS:C3890034" "NCIt:C16464" @@ -95515,8 +95503,8 @@ "PMID:29875488" "Wikipedia:Collagen_type_II" "PMID:35347128" - "PMID:29875488" "PMID:37253714" + "PMID:29875488" "PMID:12832487" "PMID:8991630" "BPDB:2487" @@ -95722,9 +95710,9 @@ "MONDO:0008449" "NCIt:C101214" "UMLS:C0080178" - "PMID:23823483" "UMLS:C3897086" "NCIt:C120146" + "PMID:23823483" "DOID:12707" "MEDGEN:483579" "UMLS:C3489626" @@ -95879,6 +95867,7 @@ "DOID:2978" "MedDRA:10061023" "MEDGEN:2825" + "PMID:29875488" "DOID:0050336" "NCIT:C37977" "SCTID:4996001" @@ -95886,7 +95875,6 @@ "MEDGEN:39327" "UMLS:C0085682" "MESH:D017674" - "PMID:29875488" "MEDGEN:76097" "UMLS:C0280328" "SCTID:707427000" @@ -95938,11 +95926,11 @@ "GARD:613" "SCTID:19754005" "PMID:24816252" - "PMID:35079123" "UMLS:C5681519" "GARD:19412" "Orphanet:98095" "MEDGEN:1843070" + "PMID:35079123" "TAO:0000108" "EFO:0000875" "SCTID:73003005" @@ -96179,15 +96167,15 @@ "Reaxys:7887099" "Drug_Central:3219" "CiteXplore:20332437" + "UMLS:C1868309" + "OMIM:172880" + "MeSH:C535688" + "ICD10:Q87.0" "ICD9:233.9" "MEDGEN:1660901" "UMLS:C4721448" "NCIT:C4529" "SCTID:92782006" - "UMLS:C1868309" - "OMIM:172880" - "MeSH:C535688" - "ICD10:Q87.0" "MEDGEN:418960" "Orphanet:2186" "UMLS:C2931014" @@ -96693,8 +96681,8 @@ "SNOMEDCT:257969007" "SCTID:53226007" "SNOMEDCT:53226007" - "MONDO:0005293" "UMLS:C0016202" + "MONDO:0005293" "NCIt:C34616" "ICD9:734" "MEDGEN:42034" @@ -96850,6 +96838,7 @@ "SCTID:187842004" "UMLS:C0153484" "NCIT:C3545" + "PMID:29875488" "MEDGEN:330749" "Orphanet:2085" "OMIM:137763" @@ -96870,7 +96859,6 @@ "NANDO:2200039" "UMLS:C0302809" "SNOMEDCT_US:427044009" - "PMID:29875488" "OMIM:615485" "OMIM:236640" "OMIMPS:607631" @@ -97260,8 +97248,6 @@ "OMIM:619527" "MEDGEN:1794197" "PMID:34565479" - "OMIM:602562" - "ICD10:Q87.0" "SNOMEDCT:432592000" "ICD10CM:H35.5" "SCTID:193413001" @@ -97277,6 +97263,8 @@ "MedDRA:10070667" "NCIt:C45247" "SNOMEDCT:447612001" + "OMIM:602562" + "ICD10:Q87.0" "PMID:34202464" "HP:0032370" "UMLS:C4225396" @@ -97702,15 +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" @@ -98372,6 +98360,7 @@ "Orphanet:79396" "OMIM:131760" "ICD9:771.2" + "NCIT:C14158" "SCTID:42829009" "MESH:C537188" "Orphanet:79492" @@ -98379,7 +98368,6 @@ "UMLS:C0019571" "MEDGEN:42460" "GARD:19026" - "NCIT:C14158" "SCTID:720814001" "Orphanet:1535" "SCTID:715647007" @@ -98586,17 +98574,17 @@ "MedDRA:10069511" "OMIM:500006" "PMID:24816252" - "KEGG COMPOUND:C19030" "UMLS:C4706362" "Orphanet:96096" "SCTID:763273008" "GARD:19312" "MEDGEN:1633392" - "CASRN:155646-83-6" - "DSSTox_Generic_SID:40493" + "KEGG COMPOUND:C19030" "OMIM:614262" "UMLS:C3280309" "MEDGEN:481939" + "CASRN:155646-83-6" + "DSSTox_Generic_SID:40493" "UMLS:C1334385" "NCIT:C6999" "DOID:5254" @@ -99038,7 +99026,6 @@ "GARD:3424" "UMLS:C0796038" "MEDGEN:162902" - "PMID:28628107" "SCTID:720519003" "UMLS:C1859596" "GARD:2279" @@ -99049,6 +99036,7 @@ "UMLS:C0149745" "SNOMEDCT_US:26284000" "OMIM:254780" + "PMID:28628107" "DOID:0110653" "GARD:15595" "UMLS:C2751830" @@ -99086,8 +99074,8 @@ "NCIt:C22616" "MA:0000173" "MAT:0000112" - "PMID:29875488" "PMID:29875488" + "PMID:29875488" "Orphanet:508529" "GARD:17951" "MEDGEN:934598" @@ -99396,8 +99384,8 @@ "EHDAA:5650" "NCIT:C52812" "EHDAA2:0001584" - "FMA:37069" "SCTID:181011002" + "FMA:37069" "GAID:845" "SCTID:49227001" "MEDGEN:1830326" @@ -99635,9 +99623,9 @@ "GARD:3986" "SCTID:416377005" "NCIT:C3840" + "PMID:29875488" "NCIt:C69141" "MO:893" - "PMID:29875488" "UMLS:C1855848" "OMIM:241310" "GARD:2907" @@ -99653,13 +99641,13 @@ "NIF_Subcellular:sao1702920020" "Wikipedia:Cell_nucleus" "ICD10:E88.2" - "PMID:29875488" "DOID:0070048" "UMLS:C3554448" "GARD:12815" "OMIM:615074" "MEDGEN:767362" "Orphanet:363686" + "PMID:29875488" "OMIM:610127" "ICD10:E75.4" "PMID:29875488" @@ -99786,8 +99774,8 @@ "PMID:22190039" "MeSH:D019772" "DrugBank:DB01030" - "PMID:21910214" "CiteXplore:22075006 \"PubMed citation\"" + "PMID:21910214" "PMID:21255983" "CiteXplore:21910214 \"PubMed citation\"" "KEGG DRUG:D08618 \"KEGG DRUG\"" @@ -100291,10 +100279,10 @@ "MEDGEN:398225" "MESH:D005234" "PMID:29875488" + "PMID:33634981" "NCIt:C26693" "MedDRA:10002329" "ICD10:I72" - "PMID:33634981" "UMLS:C4317339" "Orphanet:1941" "SCTID:230413002" @@ -100387,8 +100375,6 @@ "KEGG:D05792" "DrugBank:DB00938" "KEGG DRUG:D05792" - "RRID:CVCL_A280" - "PMID:3719517" "NCIT:C34834" "MeSH:D009230" "UMLS:C0027145" @@ -100401,6 +100387,8 @@ "OMIM:255900" "MEDGEN:6506" "DOID:11634" + "RRID:CVCL_A280" + "PMID:3719517" "GARD:17455" "UMLS:C4755312" "DOID:0111477" @@ -101147,18 +101135,18 @@ "UMLS:C0231686" "SNOMEDCT_US:394616008" "SNOMEDCT_US:22631008" - "PMID:29875488" "MeSH:C025999" "KEGG:C01226" "CAS:67204-66-4" "Beilstein:4354678" "NCIt:C30176" "KNApSAcK:C00000365" + "PMID:29875488" + "PMID:31190057" "EC:1.5.1.34" "MetaCyc:1.5.1.34-RXN" "Reactome:R-HSA-71130" "PMID:37253714" - "PMID:31190057" "MO:983" "UMLS:C0014852" "NCIt:C3027" @@ -101479,9 +101467,6 @@ "NCIT:C12678" "MESH:D001659" "MA:0001273" - "UMLS:C1859432" - "OMIM:210745" - "ICD10:Q87.8" "MeSH:D018354" "UMLS:C0206752" "DOID:5029" @@ -101492,6 +101477,9 @@ "BTO:0002805" "GARD:20404" "Orphanet:207122" + "UMLS:C1859432" + "OMIM:210745" + "ICD10:Q87.8" "PMID:19911007" "PMID:20420449" "PMID:26338495" @@ -101751,9 +101739,9 @@ "OMIM:614253" "ICD10:K00.5" "PMID:29875488" - "PMID:29875488" "UMLS:C0221259" "SNOMEDCT_US:60332004" + "PMID:29875488" "WBls:0000024" "ICD10CM:G11.4" "UMLS:C3554449" @@ -102010,9 +101998,9 @@ "NCIT:C45655" "EFO:1000521" "FMA:61906" - "MO:392" - "PMID:23823483" "PMID:29875488" + "PMID:23823483" + "MO:392" "UMLS:C2697932" "MEDGEN:395827" "NORD:91173" @@ -102215,6 +102203,14 @@ "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" @@ -102224,14 +102220,6 @@ "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" @@ -103639,6 +103627,7 @@ "ICD10:E34.3" "OMIM:245590" "ICD10:D82.8" + "PMID:29875488" "OMIA:001733" "CiteXplore:11493684" "PMID:15626898" @@ -103847,7 +103836,6 @@ "UMLS:C0041602" "MA:0001174" "PMID:37253714" - "PMID:29875488" "SCTID:715980003" "GARD:16549" "MEDGEN:894927" @@ -103915,8 +103903,8 @@ "MEDGEN:1843079" "icd11.foundation:2097520643" "PMID:26068415" - "PMID:35347128" "PMID:34503513" + "PMID:35347128" "MEDGEN:1823998" "UMLS:C5774225" "OMIM:620066" @@ -104102,11 +104090,6 @@ "PMID:29875488" "UMLS:CN202699" "Orphanet:280195" - "RRID:CVCL_5591" - "CLO:0009919" - "BTO:0005476" - "PMID:10718481" - "PMID:10604729" "ICD9:126.8" "ICD9:126.9" "UMLS:C0002831" @@ -104122,6 +104105,11 @@ "NCIT:C35805" "MEDGEN:1522" "Orphanet:78" + "RRID:CVCL_5591" + "CLO:0009919" + "BTO:0005476" + "PMID:10718481" + "PMID:10604729" "KEGG COMPOUND:C00544" "HMDB:0000130" "Orphanet:16" @@ -104522,11 +104510,11 @@ "OMIM:620014" "UMLS:C5774203" "DOID:0081030" - "PMID:24816252" "ICD10:Q87.8" "OMIM:311900" "MeSH:C536942" "UMLS:C1839463" + "PMID:24816252" "PMID:33634981" "MEDGEN:1842423" "UMLS:C5681010" @@ -104536,8 +104524,8 @@ "NCIt:C88537" "SNOMEDCT_US:405933007" "UMLS:C1320468" - "PMID:35347128" "OMIMPS:614742" + "PMID:35347128" "MeSH:D020250" "PMID:29875488" "MO:23" @@ -105171,6 +105159,8 @@ "PMID:35347128" "PMID:35668104" "NCIt:C129690" + "NCIt:C122523" + "MedDRA:10058931" "Orphanet:210548" "MEDGEN:381416" "MESH:C565342" @@ -105182,12 +105172,15 @@ "UMLS:C4750848" "MEDGEN:1655582" "Orphanet:370010" - "NCIt:C122523" - "MedDRA:10058931" "MEDGEN:509492" "UMLS:C0153968" "ICD9:214.0" "SCTID:93159009" + "GARD:20861" + "icd11.foundation:1245616284" + "Orphanet:262716" + "UMLS:C5679719" + "MEDGEN:1826041" "DOID:0050918" "GARD:9348" "MEDGEN:82653" @@ -105201,11 +105194,6 @@ "NCIT:C35370" "MESH:D019046" "DOID:4960" - "GARD:20861" - "icd11.foundation:1245616284" - "Orphanet:262716" - "UMLS:C5679719" - "MEDGEN:1826041" "SNOMEDCT:398620001" "PMID:28240269" "OMIM:607507" @@ -105273,17 +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" @@ -105299,6 +105276,17 @@ "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:28240269" "PMID:35501403" @@ -105495,6 +105483,8 @@ "VHOG:0000283" "EFO:0000912" "XAO:0000012" + "OMIM:609311" + "ICD10:G60.0" "MAT:0000032" "EMAPA:17213" "EHDAA:5047" @@ -105526,8 +105516,6 @@ "MeSH:D007018" "UMLS:C0020635" "SCTID:74728003" - "OMIM:609311" - "ICD10:G60.0" "PMID:35347128" "GARD:17200" "MEDGEN:462183" @@ -106046,6 +106034,10 @@ "MEDGEN:1824022" "OMIM:620111" "UMLS:C5774249" + "MedDRA:10008378" + "MeSH:D002590" + "ICD10:B71" + "DOID:933" "BTO:0001197" "RRID:CVCL_2874" "CLO:0002333" @@ -106054,10 +106046,6 @@ "MEDGEN:307248" "DOID:6518" "PMID:31085678" - "MedDRA:10008378" - "MeSH:D002590" - "ICD10:B71" - "DOID:933" "ICD10CM:Q87.8" "OMIM:236680" "DOID:0050779" @@ -106133,10 +106121,10 @@ "MESH:C562924" "MEDGEN:98363" "ICD9:709.09" - "PMID:35347128" "SCTID:73160007" "MEDGEN:507638" "UMLS:C0011985" + "PMID:35347128" "UMLS:C0877572" "MEDGEN:167919" "NCIT:C40032" @@ -106362,6 +106350,8 @@ "NCIt:C12622" "SNOMEDCT:56685008" "BTO:0004267" + "PMID:10718481" + "PMID:10604729" "icd11.foundation:2005274000" "SCTID:442652006" "UMLS:C0162576" @@ -106376,8 +106366,6 @@ "Orphanet:1070" "ICD10CM:B81.0" "GARD:693" - "PMID:10718481" - "PMID:10604729" "SCTID:255181009" "MEDGEN:138081" "UMLS:C0347354" @@ -106411,6 +106399,8 @@ "ICD10:Q87.8" "PMID:19347970" "SNOMEDCT:81454004" + "ICD10:E23.0" + "OMIM:300123" "NCIT:C131533" "GARD:10140" "SCTID:720565000" @@ -106420,8 +106410,6 @@ "NORD:1981" "MESH:C537419" "MEDGEN:208678" - "ICD10:E23.0" - "OMIM:300123" "PMID:33283231" "UMLS:C0742028" "ICD10:Q93.5" @@ -106479,6 +106467,7 @@ "NCIT:C150646" "UMLS:C4721887" "DOID:0110155" + "PMID:37164013" "NCIT:C5673" "MEDGEN:224904" "SCTID:399432003" @@ -106487,7 +106476,6 @@ "MONDO:0005484" "DOID:0050860" "UMLS:C1302401" - "PMID:37164013" "EMAPA:18256" "BTO:0001978" "NCIT:C12375" @@ -106620,11 +106608,11 @@ "ICD10:D68.2" "PMID:35347128" "MCC:0000356" + "NCIt:C14352" "MEDGEN:1633653" "UMLS:C4693733" "DOID:0070398" "OMIM:617951" - "NCIt:C14352" "ZFA:0001210" "NCIT:C33286" "MA:0002423" @@ -106892,14 +106880,6 @@ "OMIM:608099" "MEDGEN:424706" "UMLS:C2936332" - "NANDO:1200648" - "MEDGEN:82790" - "NANDO:2201258" - "GARD:2082" - "NCIT:C125699" - "UMLS:C0268338" - "SCTID:17025000" - "Orphanet:286" "MedDRA:10030012" "UMLS:C0028796" "ICD9:692.9" @@ -106909,6 +106889,14 @@ "MONDO:0006589" "SCTID:402587003" "DOID:4404" + "NANDO:1200648" + "MEDGEN:82790" + "NANDO:2201258" + "GARD:2082" + "NCIT:C125699" + "UMLS:C0268338" + "SCTID:17025000" + "Orphanet:286" "OMIM:245570" "ICD10:G40.0" "OMIM:117100" @@ -106949,12 +106937,12 @@ "Reactome:R-HSA-8949178" "Reactome:R-HSA-139855" "Reactome:R-HSA-139854" - "NCIt:C117191" "UMLS:C1707437" "MEDGEN:317524" "NCIT:C43589" "EFO:1000190" "MONDO:0006157" + "NCIt:C117191" "CLO:0008236" "BTO:0004621" "RRID:CVCL_1620" @@ -107293,6 +107281,7 @@ "MEDGEN:436381" "UMLS:C2675235" "OMIM:618476" + "EHDAA:1086" "EMAPA:32752" "EHDAA:617" "EHDAA:1669" @@ -107305,10 +107294,9 @@ "NCIT:C34252" "TAO:0001106" "AAO:0011113" - "UMLS:C0231067" "EHDAA:579" + "UMLS:C0231067" "FMA:293063" - "EHDAA:1086" "SNOMEDCT_US:815008" "UMLS:C0014583" "ICD10:G11.8" @@ -107684,10 +107672,6 @@ "MEDGEN:107849" "NCIT:C27183" "DOID:7806" - "MeSH:C535420" - "OMIM:601382" - "UMLS:C1832399" - "ICD10:G60.0" "UMLS:C1518693" "ICD10:C56" "EFO:1000042" @@ -107753,6 +107737,10 @@ "GARD:8535" "Orphanet:661" "MedDRA:10007982" + "MeSH:C535420" + "OMIM:601382" + "UMLS:C1832399" + "ICD10:G60.0" "OMIMPS:252011" "SNOMEDCT:70016006" "NCIt:C18685" @@ -108021,6 +108009,8 @@ "SCTID:244798004" "MESH:D010609" "MA:0001797" + "OMIM:607364" + "ICD10:E26.8" "UMLS:C0344730" "NANDO:2200267" "Orphanet:99105" @@ -108029,8 +108019,6 @@ "MEDGEN:138011" "icd11.foundation:1930019148" "SCTID:95268002" - "OMIM:607364" - "ICD10:E26.8" "UMLS:C0085602" "SNOMEDCT_US:267026004" "SNOMEDCT_US:17173007" @@ -108054,11 +108042,11 @@ "PMID:35347128" "PMID:35347128" "NCIt:C117184" - "PMID:21177962" - "PMID:25262759" "OMIM:177650" "MEDGEN:864692" "UMLS:C4016255" + "PMID:21177962" + "PMID:25262759" "HMDB:0036583" "EV:0100089" "XAO:0000133" @@ -108348,15 +108336,15 @@ "ICD9:016.6" "SCTID:84194006" "DOID:2148" - "CAS:1935-18-8" - "PMID:23315938" - "Reaxys:4152032" "CAS:21709-90-0" "Reaxys:1759032" "HMDB:HMDB0000783" "PMID:5033805" "PMID:7313494" "PMID:15069406" + "CAS:1935-18-8" + "PMID:23315938" + "Reaxys:4152032" "OMIMPS:603933" "CAS:97-69-8" "PMID:10794474" @@ -108510,6 +108498,10 @@ "NANDO:2200048" "T3DB:T3D1350" "PMID:32737300" + "ZFA:0001184" + "MEDGEN:1824024" + "UMLS:C5774251" + "OMIM:620113" "MeSH:D005141" "ICD10:H03" "ICD10CM:H00" @@ -108526,10 +108518,6 @@ "MONDO:0003382" "DOID:530" "ICD10:H02" - "ZFA:0001184" - "MEDGEN:1824024" - "UMLS:C5774251" - "OMIM:620113" "MEDGEN:3013" "UMLS:C0008153" "DOID:50358" @@ -108828,11 +108816,11 @@ "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" @@ -108939,11 +108927,11 @@ "GARD:1037" "MESH:C566226" "ICD10:Q87.8" - "PMID:31226389" "RRID:CVCL_2300" " CLO:0001766" "CLO:0001765" "BTO:0001077" + "PMID:31226389" "UMLS:C5680783" "Orphanet:280365" "MEDGEN:1808090" @@ -108977,14 +108965,14 @@ "UMLS:C1836484" "MEDGEN:332218" "PMID:37164013" - "ICD9:V62.84" - "MeSH:D059020" - "MedDRA:10042458" - "NCIt:C80102" "ICD10:H47.2" "OMIM:165500" "OMIM:610708" "OMIM:605293" + "ICD9:V62.84" + "MeSH:D059020" + "MedDRA:10042458" + "NCIt:C80102" "OMIM:607208" "MeSH:D004831" "ICD10:G40.4" @@ -109814,8 +109802,8 @@ "UMLS:C0041323" "MEDGEN:52888" "ICD9:017.90" - "MeSH:D014393" "MedDRA:10076879" + "MeSH:D014393" "DOID:402" "SCTID:235067001" "ICD9:528.9" @@ -110231,8 +110219,8 @@ "NANDO:2200100" "NCIT:C49274" "CALOHA:TS-1262" - "TAO:0001287" "FMA:15627" + "TAO:0001287" "EMAPA:27782" "UMLS:C0022674" "EV:0100387" @@ -110428,13 +110416,13 @@ "OMIM:179010" "MEDGEN:357978" "UMLS:C1867403" - "MeSH:D013273" "Orphanet:401825" - "PMID:35347128" - "Orphanet:353327" + "MeSH:D013273" "CLO:0007639" "RRID:CVCL_0623" "BTO:0001568" + "PMID:35347128" + "Orphanet:353327" "MEDGEN:350678" "Orphanet:1154" "GARD:4047" @@ -110688,6 +110676,7 @@ "UMLS:C1332579" "PMID:32341457" "ZFA:0001194" + "OMIM:265380" "UMLS:C0015556" "NCIt:C26771" "MEDGEN:8774" @@ -110698,7 +110687,6 @@ "MeSH:D005184" "MONDO:0002156" "MESH:D005184" - "OMIM:265380" "PMID:29875488" "MEDGEN:231435" "NCIT:C6803" @@ -110821,8 +110809,8 @@ "GARD:16832" "UMLS:C0554472" "DOID:421" - "MEDGEN:640417" "ICD9:704.8" + "MEDGEN:640417" "SCTID:201128002" "ICD9:704.9" "MESH:D006201" @@ -111016,11 +111004,11 @@ "DOID:2150" "SNOMEDCT:18284006" "NCIt:C96623" + "PMID:29875488" "NCIT:C6531" "DOID:2706" "UMLS:C1334624" "MEDGEN:277340" - "PMID:29875488" "RRID:CVCL_C0HY" "PMID:23823483" "UMLS:C5543301" @@ -111038,8 +111026,8 @@ "CAS:2140-46-7" "KEGG:C15519" "UMLS:C1866010" - "PMID:37164013" "PMID:24816252" + "PMID:37164013" "SCTID:403900000" "ICDO:8074/3" "ICD9:199.1" @@ -111963,11 +111951,11 @@ "UMLS:C5561967" "MEDGEN:1794177" "OMIM:619488" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02852&Product=CC" "UMLS:C5680651" "Orphanet:156165" "MEDGEN:1843204" "GARD:19987" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02852&Product=CC" "PMID:29875488" "CLO:0009709" "RRID:CVCL_1893" @@ -112096,7 +112084,6 @@ "UMLS:C1868120" "GARD:16818" "PMID:35501403" - "ICD10:Q93.5" "SCTID:700423003" "MONDO:0006047" "EFO:1000044" @@ -112105,6 +112092,7 @@ "NCIT:C8294" "UMLS:C0281361" "DOID:4074" + "ICD10:Q93.5" "MEDGEN:91158" "SCTID:277507004" "UMLS:C0349620" @@ -112463,8 +112451,6 @@ "OMIM:612347" "GARD:10364" "MESH:C567343" - "OMIM:606482" - "ICD10:G60.0" "MeSH:D013275" "MEDGEN:1679277" "Orphanet:401830" @@ -112494,6 +112480,8 @@ "PMID:16659174" "PPDB:1680" "PMID:27665925" + "OMIM:606482" + "ICD10:G60.0" "DOID:0081072" "OMIMPS:213980" "CSP:0571-2717" @@ -112957,13 +112945,13 @@ "MEDGEN:1826168" "GARD:17385" "PMID:28240269" - "UMLS:C0700329" - "NCIt:C35867" "MEDGEN:318593" "UMLS:C1720863" "GARD:10212" "DOID:0111136" "OMIM:269700" + "UMLS:C0700329" + "NCIt:C35867" "PMID:31530798" "KNApSAcK:C00043196" "HMDB:HMDB0001886" @@ -113331,11 +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" @@ -113349,6 +113332,11 @@ "MONDO:0012819" "SNOMEDCT:420422005" "MEDGEN:8351" + "TGMA:0000720" + "ZFA:0001114" + "MAT:0000017" + "FBbt:00003007" + "MA:0000316" "UMLS:C0341703" "MEDGEN:137960" "NCIT:C4377" @@ -113734,8 +113722,8 @@ "FMA:7407" "EHDAA:7064" "EHDAA:7043" - "EHDAA:7058" "SCTID:245513001" + "EHDAA:7058" "EHDAA:7049" "EHDAA:7070" "BTO:0001190" @@ -113815,9 +113803,9 @@ "UMLS:C0024110" "NCIT:C99090" "ICD9:513.0" + "SNOMEDCT:196108004" "NCIt:C99090" "MONDO:0000744" - "SNOMEDCT:196108004" "HP:0025044" "MESH:D008169" "DOID:850" @@ -113945,6 +113933,10 @@ "UMLS:C1838578" "PMID:29875488" "PMID:35995766" + "GARD:20965" + "UMLS:C5680741" + "Orphanet:268810" + "MEDGEN:1806905" "MESH:D007897" "ICD10CM:B55.2" "MEDGEN:233065" @@ -113956,10 +113948,6 @@ "NCIT:C34769" "UMLS:C1328252" "DOID:9155" - "GARD:20965" - "UMLS:C5680741" - "Orphanet:268810" - "MEDGEN:1806905" "Wikipedia:Artery#Systemic_arteries" "FMA:66464" "EMAPA:37126" @@ -114047,7 +114035,6 @@ "GARD:22050" "DOID:0070000" "OMIM:617248" - "NCIt:C72316" "UMLS:C4520892" "GARD:4130" "ICD9:759.89" @@ -114056,6 +114043,7 @@ "SCTID:254060000" "DOID:0080026" "Orphanet:1427" + "NCIt:C72316" "UMLS:C4021524" "SNOMEDCT:113893001" "PMID:25639887" @@ -114553,8 +114541,8 @@ "UMLS:C0339124" "NCIT:C4360" "MEDGEN:83280" - "PMID:35347128" "PMID:36168886" + "PMID:35347128" "PMID:25493955" "OMIM:618050" "UMLS:C4748003" @@ -114848,11 +114836,11 @@ "DOID:0112318" "PMID:29875488" "PMID:28240269" + "UMLS:C1856029" "UMLS:C0342337" "GARD:3009" "Orphanet:2298" "MEDGEN:574967" - "UMLS:C1856029" "Orphanet:3042" "SCTID:726709001" "MEDGEN:162911" @@ -115404,9 +115392,9 @@ "NCIT:C8290" "DOID:7631" "MEDGEN:83792" - "PMID:35347128" "Wikipedia:Trigger_finger" "MedDRA:10044654" + "PMID:35347128" "PMID:9164991" "Drug_Central:373" "PMID:11481419" @@ -115967,8 +115955,8 @@ "NCIT:C8401" "MEDGEN:7187" "UMLS:C0022374" - "SCTID:126834003" "MESH:D007580" + "SCTID:126834003" "OMIM:193235" "OMIM:613243" "DOID:0110319" @@ -116040,6 +116028,9 @@ "NCIT:C63743" "DOID:3388" "UMLS:C0031090" + "UMLS:C1836892" + "MEDGEN:373202" + "OMIM:609048" "NCIT:C27744" "DOID:3688" "UMLS:C0270891" @@ -116049,9 +116040,6 @@ "SCTID:2231001" "MEDGEN:543047" "NCIt:C27744" - "UMLS:C1836892" - "MEDGEN:373202" - "OMIM:609048" "GARD:15421" "OMIM:607829" "UMLS:C1843003" @@ -116391,6 +116379,8 @@ "PMID:29875488" "PMID:29875488" "PMID:35322040" + "NCIT:C15330" + "ICD10:Z90.4" "Orphanet:93383" "SCTID:389168002" "MEDGEN:722046" @@ -116419,8 +116409,6 @@ "FMA:7197" "NCIT:C12392" "MA:0000358" - "NCIT:C15330" - "ICD10:Z90.4" "OMIM:164745" "GARD:3643" "MESH:C567664" @@ -116840,11 +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" @@ -116957,6 +116945,10 @@ "MEDGEN:116062" "UMLS:C0158266" "SNOMEDCT_US:77547008" + "WebElements:Na" + "CAS:7440-23-5" + "KEGG:C01330" + "Gmelin:16221" "EFO:0009000" "NCIT:C9295" "MEDGEN:83178" @@ -116966,10 +116958,6 @@ "ICD9:238.79" "UMLS:C0334664" "ICD10:D47.0" - "WebElements:Na" - "CAS:7440-23-5" - "KEGG:C01330" - "Gmelin:16221" "MEDGEN:1842533" "UMLS:C5680515" "Orphanet:171898" @@ -117518,8 +117506,8 @@ "SNOMEDCT_US:36485005" "UMLS:C3277226" "PMID:35995766" - "RGD:1357955" "PMID:23823483" + "RGD:1357955" "MESH:C537349" "MEDGEN:395935" "SCTID:715472000" @@ -117580,8 +117568,8 @@ "NCIT:C5126" "MEDGEN:233659" "DOID:3843" - "FBbt:00001056" "PMID:24954085" + "FBbt:00001056" "PMID:34503513" "PMID:21963238" "PMID:35347128" @@ -117717,16 +117705,6 @@ "MEDGEN:1809253" "UMLS:C5676931" "OMIM:619775" - "UMLS:C0005684" - "ICD9:188.9" - "ICD9:188.8" - "DOID:11054" - "NCIT:C9334" - "MEDGEN:14150" - "Orphanet:157980" - "OMIM:109800" - "SCTID:399326009" - "ICD9:188" "MONDO:0007745" "MeSH:D005878" "ICD10CM:E80.4" @@ -117739,6 +117717,16 @@ "DOID:2739" "OMIM:143500" "MESH:D005878" + "UMLS:C0005684" + "ICD9:188.9" + "ICD9:188.8" + "DOID:11054" + "NCIT:C9334" + "MEDGEN:14150" + "Orphanet:157980" + "OMIM:109800" + "SCTID:399326009" + "ICD9:188" "VHOG:0000451" "EHDAA:9178" "SCTID:362202004" @@ -117879,6 +117867,7 @@ "NCIt:C16342" "NCIT:C3360" "MESH:D012303" + "PMID:29875488" "UMLS:C1863225" "GARD:548" "OMIM:102800" @@ -117892,7 +117881,6 @@ "DOID:0070123" "Orphanet:90674" "GARD:10129" - "PMID:29875488" "NCIT:C36263" "MEDGEN:422475" "UMLS:C2939419" @@ -118004,6 +117992,14 @@ "BTO:0002025" "CLO:0051569" "RRID:CVCL_1288" + "SCTID:702312009" + "Orphanet:1412" + "UMLS:C1861305" + "ICD9:756.9" + "GARD:9225" + "OMIM:186570" + "MEDGEN:348322" + "DOID:0050789" "PMID:36449553" "HMDB:HMDB0003404" "PMID:36547931" @@ -118025,14 +118021,6 @@ "PMID:34885715" "PMID:36315326" "Pesticides:chitosan" - "SCTID:702312009" - "Orphanet:1412" - "UMLS:C1861305" - "ICD9:756.9" - "GARD:9225" - "OMIM:186570" - "MEDGEN:348322" - "DOID:0050789" "GC_ID:1" "Orphanet:2670" "OMIM:609049" @@ -119094,15 +119082,6 @@ "UMLS:C5679654" "PMID:28240269" "MP:0002833" - "DOID:0060563" - "GARD:1237" - "SCTID:703534001" - "OMIM:169100" - "MESH:C566815" - "MEDGEN:358356" - "Orphanet:46627" - "UMLS:C1868570" - "ICD9:759.89" "DOID:5889" "MEDGEN:128891" "GARD:10634" @@ -119114,6 +119093,15 @@ "NCIT:C6770" "UMLS:C0280788" "Orphanet:251646" + "DOID:0060563" + "GARD:1237" + "SCTID:703534001" + "OMIM:169100" + "MESH:C566815" + "MEDGEN:358356" + "Orphanet:46627" + "UMLS:C1868570" + "ICD9:759.89" "GARD:19609" "UMLS:C0339300" "Orphanet:98958" @@ -119673,7 +119661,6 @@ "MEDGEN:1683744" "OMIMPS:614080" "ICD10:Q93.3" - "ICD10:Q43.1" "NCIT:C34927" "DOID:11257" "MESH:D000072861" @@ -119687,6 +119674,7 @@ "SCTID:25501002" "MeSH:D000072861" "MedDRA:10041242" + "ICD10:Q43.1" "UMLS:C1850778" "MEDGEN:342587" "PMID:31430377" @@ -119905,10 +119893,10 @@ "MEDGEN:934710" "Orphanet:497906" "UMLS:C4310743" - "PMID:35995766" "SNOMEDCT_US:16652001" "SNOMEDCT_US:124464003" "UMLS:C0002986" + "PMID:35995766" "UMLS:C0266456" "NCIT:C124517" "SCTID:52330001" @@ -120133,14 +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" @@ -120273,6 +120261,12 @@ "NORD:1168" "ICD9:271.8" "GARD:6473" + "MESH:D011984" + "ZFA:0009053" + "FMA:84649" + "FBbt:00005124" + "BTO:0001037" + "WBbt:0005759" "EFO:1000635" "MEDGEN:5477" "ICD9:228.09" @@ -120291,12 +120285,6 @@ "COHD:441818" "MESH:D006391" "GARD:0010759" - "MESH:D011984" - "ZFA:0009053" - "FMA:84649" - "FBbt:00005124" - "BTO:0001037" - "WBbt:0005759" "PMID:26068415" "MEDGEN:388559" "GARD:15090" @@ -120400,10 +120388,10 @@ "Wikipedia:Pantothenic_acid" "KEGG:D07413" "Reaxys:1727062" - "PMID:35347128" "MeSH:D009043" "NCIt:C17708" "SNOMEDCT:68130003" + "PMID:35347128" "PMID:29875488" "NCIt:C177374" "SNOMEDCT:432472005" @@ -120715,6 +120703,7 @@ "MedDRA:10017183" "PMID:26068415" "NCIt:C122123" + "UMLS:C0346185" "MEDGEN:83414" "NCIT:C8106" "EFO:1000414" @@ -120722,7 +120711,6 @@ "ONCOTREE:ODYS" "DOID:5511" "SCTID:254874008" - "UMLS:C0346185" "MEDGEN:481798" "DOID:0070147" "UMLS:C3280168" @@ -120945,9 +120933,9 @@ "MedDRA:10059483" "NCIt:C111649" "PMID:24816252" - "PMID:35347128" "UMLS:C4073241" "PMID:28240269" + "PMID:35347128" "UMLS:C3536893" "NCIT:C27291" "MEDGEN:760735" @@ -120982,12 +120970,12 @@ "ICD10CM:N84.3" "SCTID:57158005" "UMLS:C0269218" - "ICD10:Q93.5" "SCTID:89723004" "UMLS:C0395849" "ICD9:384.1" "MEDGEN:583089" "DOID:11217" + "ICD10:Q93.5" "UMLS:C0042162" "MEDGEN:52960" "NCIT:C3436" @@ -121123,8 +121111,8 @@ "NLXANAT:1005006" "EFO:0001978" "BAMS:PERI" - "BTO:0004355" "PBA:128012080" + "BTO:0004355" "Wikipedia:Perirhinal_cortex" "BM:Tel-Cx-PRh" "MBA:922" @@ -121702,6 +121690,7 @@ "MONDO:0006153" "RRID:CVCL_0400" "CLO:0007445" + "NCIt:C92647" "GARD:17685" "NANDO:2201235" "Orphanet:411634" @@ -121713,7 +121702,6 @@ "NANDO:1200163" "MEDGEN:75701" "UMLS:C0268626" - "NCIt:C92647" "PMID:36168886" "MEDGEN:42278" "UMLS:C0018078" @@ -121854,10 +121842,10 @@ "DOID:6018" "MEDGEN:231036" "NCIT:C27401" + "PMID:26038577" "RRID:CVCL_9631" "CLO:0022856" "PO:0004006" - "PMID:26038577" "SNOMEDCT:76819007" "NCIt:C81280" "UMLS:C2749864" @@ -122181,10 +122169,19 @@ "OMIM:618853" "DOID:0080963" "UMLS:C5394289" - "PMID:29875488" "BTO:0000670" "RRID:CVCL_0374" "CLO:0007093" + "PMID:29875488" + "UMLS:C1835813" + "OMIM:610842" + "SCTID:717941005" + "Orphanet:91135" + "GARD:16796" + "MESH:C563654" + "MEDGEN:332067" + "NCIt:C51998" + "MeSH:D001026" "DOID:607" "UMLS:C0030486" "ICD9:344.1" @@ -122195,15 +122192,6 @@ "SCTID:60389000" "MONDO:0003757" "ICD10:G82" - "UMLS:C1835813" - "OMIM:610842" - "SCTID:717941005" - "Orphanet:91135" - "GARD:16796" - "MESH:C563654" - "MEDGEN:332067" - "NCIt:C51998" - "MeSH:D001026" "Orphanet:207101" "UMLS:C5680831" "GARD:20398" @@ -122754,9 +122742,8 @@ "UMLS:C4693816" "MEDGEN:1633724" "OMIM:617977" - "ICD10:L68.2" - "ICD10:M89.2" "FBbt:00005526" + "ICD10:L68.2" "PMID:33723576" "SCTID:234468009" "MESH:C562865" @@ -122765,6 +122752,7 @@ "OMIM:612356" "ICD9:286.3" "UMLS:C0398626" + "ICD10:M89.2" "HP:0001704" "MESH:D014263" "MEDGEN:11912" @@ -122776,7 +122764,6 @@ "MONDO:0007001" "MeSH:D014263" "PMID:29875488" - "PMID:36168886" "OMIM:614613" "MEDGEN:766164" "GARD:15823" @@ -122789,6 +122776,7 @@ "UMLS:C3272767" "GARD:19754" "SCTID:725167001" + "PMID:36168886" "OMIM:609055" "Orphanet:228357" "MESH:C537953" @@ -122861,8 +122849,8 @@ "MA:0000037" "CALOHA:TS-2213" "Wikipedia:Manus_(anatomy)" - "FMA:9712" "MESH:D006225" + "FMA:9712" "EHDAA2:0000728" "BTO:0004668" "SCTID:302539009" @@ -122968,7 +122956,6 @@ "UMLS:C1334567" "DOID:6034" "MEDGEN:233144" - "PMID:35347128" "UMLS:C0024535" "ICD10:B50" "MEDGEN:6185" @@ -122980,6 +122967,7 @@ "NCIT:C34798" "SCTID:62676009" "ICD9:084.9" + "PMID:35347128" "OMIM:207950" "GARD:9232" "UMLS:C0555206" @@ -123468,14 +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" @@ -123800,11 +123788,11 @@ "DOID:0110844" "MESH:C567886" "NCIT:C114770" + "PMID:34610981" "Orphanet:99989" "GARD:19724" "MEDGEN:1843317" "UMLS:C5680423" - "PMID:34610981" "RRID:CVCL_1054" " CLO:0050951" "BTO:0005550" @@ -123881,11 +123869,11 @@ "PMID:34610981" "PMID:35888748" "PMID:30134952" - "PMID:29875488" "MEDGEN:754440" "UMLS:C2939445" "SCTID:92557009" "DOID:0050614" + "PMID:29875488" "DOID:11266" "MedDRA:10075020" "MeSH:D006480" @@ -124063,10 +124051,10 @@ "PMID:29875488" "ICD10:Q44.7" "OMIM:118450" - "PMID:23382536" "MEDGEN:1684767" "OMIM:618773" "UMLS:C5231496" + "PMID:23382536" "DOID:4467" "MeSH:D002292" "SNOMEDCT:254915003" @@ -124196,6 +124184,7 @@ "MeSH:D019588" "MedDRA:10063493" "UMLS:C0231341" + "PMID:35347128" "UMLS:C1836860" "DOID:0111097" "MEDGEN:323015" @@ -124203,7 +124192,6 @@ "MESH:C563801" "GARD:15449" "OMIM:609054" - "PMID:35347128" "Wikipedia:Cytokinin" "MeSH:D003583" "SNOMEDCT:88074008" @@ -124688,8 +124676,8 @@ "UMLS:C2202743" "DOID:6339" "PMID:28240269" - "PMID:32321835" "NCIt:C147359" + "PMID:32321835" "NANDO:1200236" "MESH:D016109" "SCTID:79855003" @@ -125169,7 +125157,6 @@ "ICD9:171.7" "ICD9:171.3" "MEDGEN:224714" - "ICD9:357.3" "NCIt:C3981" "MESH:D020364" "DOID:8681" @@ -125180,6 +125167,7 @@ "NCIT:C3981" "SCTID:77659000" "MONDO:0006888" + "ICD9:357.3" "NCIT:C26998" "MONDO:0006525" "ICD10:L23" @@ -125537,10 +125525,6 @@ "MEDGEN:102385" "ICD10:M27.1" "NCIT:C121893" - "MedDRA:10053240" - "OMIM:232700" - "ICD10:E74.0" - "UMLS:C0017925" "NANDO:2201167" "MESH:C564485" "GARD:3858" @@ -125550,6 +125534,10 @@ "UMLS:C1845151" "OMIM:300559" "Orphanet:715" + "MedDRA:10053240" + "OMIM:232700" + "ICD10:E74.0" + "UMLS:C0017925" "PMID:29875488" "MeSH:C569686" "ICD9:215.9" @@ -125608,7 +125596,6 @@ "UMLS:C0281332" "MEDGEN:83794" "DOID:6648" - "OMIM:300455" "MESH:D030981" "OMIM:102400" "SCTID:27201004" @@ -125617,6 +125604,7 @@ "MEDGEN:183017" "NCIT:C35545" "MO:555" + "OMIM:300455" "PMID:27477909" "PMID:21150871" "Reaxys:3565084" @@ -125745,6 +125733,7 @@ "icd11.foundation:592246939" "GARD:20142" "PMID:35347128" + "PMID:24816252" "EHDAA2_RETIRED:0003154" "EFO:0000807" "SCTID:361692004" @@ -125770,7 +125759,6 @@ "XAO:0000176" "MESH:D034582" "MIAA:0000033" - "PMID:24816252" "Wikipedia:Color_blindness" "Orphanet:319691" "SNOMEDCT:51445007" @@ -126002,12 +125990,12 @@ "GARD:7207" "NORD:1509" "PMID:35050183" + "FMA:3832" "MESH:C537441" "OMIM:601701" "Orphanet:3354" "MEDGEN:355714" "UMLS:C1866427" - "FMA:3832" "BTO:0000084" "Wikipedia:Vermiform_appendix" "MESH:D001065" @@ -126048,8 +126036,8 @@ "Orphanet:1318" "SCTID:720599002" "PMID:35347128" - "NCIt:C28038" "PMID:29875488" + "NCIt:C28038" "https://en.wikipedia.org/wiki/Clostridium_difficile_infection" "MedDRA:10054236" "PMID:29875488" @@ -126399,6 +126387,9 @@ "MONDO:0006115" "SCTID:413656006" "PMID:29875488" + "Wikipedia:Insulitis" + "PMID:20545565" + "MONDO:0005176" "MEDGEN:6035" "NCIT:C34766" "GARD:6874" @@ -126410,9 +126401,6 @@ "MedDRA:10034735" "Orphanet:2380" "SCTID:15739006" - "Wikipedia:Insulitis" - "PMID:20545565" - "MONDO:0005176" "PMID:PMC1531688" "BTO:0000932" "PMID:29875488" @@ -126678,15 +126666,6 @@ "AAO:0010372" "EFO:0003684" "XAO:0003179" - "Orphanet:98762" - "OMIM:604326" - "NCIT:C154316" - "MEDGEN:347653" - "DOID:0050962" - "MESH:C565790" - "GARD:10476" - "UMLS:C1858501" - "SCTID:719208005" "Reaxys:1727945" "PMID:23989918" "DrugBank:DB01727" @@ -126701,6 +126680,15 @@ "KNApSAcK:C00001188" "Beilstein:1727945" "YMDB:YMDB00026" + "Orphanet:98762" + "OMIM:604326" + "NCIT:C154316" + "MEDGEN:347653" + "DOID:0050962" + "MESH:C565790" + "GARD:10476" + "UMLS:C1858501" + "SCTID:719208005" "Orphanet:238523" "UMLS:C4755274" "GARD:17175" @@ -126712,8 +126700,8 @@ "MeSH:D001439" "UMLS:C2168304" "MONDO:0003372" - "MEDGEN:378348" "EFO:1001975" + "MEDGEN:378348" "NCIT:C40318" "DOID:5286" "UMLS:C4020887" @@ -126747,11 +126735,11 @@ "UMLS:C0796176" "MEDGEN:167109" "OMIMPS:601559" + "Wikipedia:Metabolically_healthy_obesity" "MEDGEN:267027" "UMLS:C1511063" "NCIT:C40189" "DOID:7046" - "Wikipedia:Metabolically_healthy_obesity" "GARD:15264" "UMLS:C3275406" "MEDGEN:477037" @@ -127088,6 +127076,9 @@ "MEDGEN:14611" "MONDO:0006889" "NCIT:C34893" + "UMLS:C0022073" + "SNOMEDCT_US:77971008" + "FBbt:00004914" "SCTID:40178009" "UMLS:C0149526" "MEDGEN:508394" @@ -127097,9 +127088,6 @@ "Wikipedia:Urticaria#Allergic_urticaria" "ICD9:708.0" "MedDRA:10001734" - "UMLS:C0022073" - "SNOMEDCT_US:77971008" - "FBbt:00004914" "Orphanet:667" "OMIMPS:259700" "NCIT:C129733" @@ -127346,6 +127334,7 @@ "UMLS:C1956097" "ICD10CM:Q93.3" "PMID:34814699" + "MIAA:0000094" "BILA:0000117" "GAID:1245" "Wikipedia:Tail" @@ -127356,7 +127345,6 @@ "BTO:0001348" "MESH:D013623" "MAT:0000094" - "MIAA:0000094" "MONDO:0005334" "MEDGEN:10305" "UMLS:C0027706" @@ -127547,6 +127535,12 @@ "icd11.foundation:376045936" "UMLS:C0795839" "MEDGEN:162778" + "MESH:D001956" + "SCTID:362723009" + "FMA:16516" + "NCIT:C12318" + "UMLS:C0006205" + "Wikipedia:Broad_ligament_of_the_uterus" "MEDGEN:1746" "NCIT:C2856" "EFO:1000834" @@ -127555,12 +127549,6 @@ "ICDO:8300/0" "DOID:4542" "MESH:D000237" - "MESH:D001956" - "SCTID:362723009" - "FMA:16516" - "NCIT:C12318" - "UMLS:C0006205" - "Wikipedia:Broad_ligament_of_the_uterus" "UMLS:C1840235" "SNOMEDCT_US:707609006" "PMID:35347128" @@ -128075,8 +128063,8 @@ "EFO:1000404" "UMLS:C0278869" "NCIT:C7913" - "MEDGEN:75884" "MONDO:0006326" + "MEDGEN:75884" "PMID:35347128" "PMID:25514360" "MEDGEN:151769" @@ -128180,13 +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" @@ -128194,6 +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" @@ -128292,9 +128280,9 @@ "EFO:0000326" "MEDGEN:87593" "NANDO:2100007" - "PMID:29317604" "ICD10:D68.5" "OMIM:613118" + "PMID:29317604" "OMIM:615274" "OMIM:605728" "OMIM:601547" @@ -128688,12 +128676,12 @@ "ICD10:Q15.8" "NCIt:C12803" "MeSH:D014129" + "MO:858" "MEDGEN:474394" "NCIt:C96416" "NCIT:C96416" "UMLS:C3272761" "MONDO:0006090" - "MO:858" "PMID:24816252" "RRID:CVCL_J351" "BTO:0004476" @@ -128754,6 +128742,16 @@ "NCIt:C26852" "MedDRA:10034878" "NCIT:C26852" + "SCTID:700211007" + "ICD9:759.89" + "GARD:118" + "MESH:C536937" + "DOID:0060614" + "OMIM:181450" + "UMLS:C1866994" + "MEDGEN:357886" + "Orphanet:3138" + "NORD:1695" "ICD10:D48.7" "OMIM:606690" "icd11.foundation:902628446" @@ -128772,16 +128770,6 @@ "SCTID:277844007" "GARD:0003319" "ICD9:518.89" - "SCTID:700211007" - "ICD9:759.89" - "GARD:118" - "MESH:C536937" - "DOID:0060614" - "OMIM:181450" - "UMLS:C1866994" - "MEDGEN:357886" - "Orphanet:3138" - "NORD:1695" "GARD:9989" "MEDGEN:332940" "OMIM:608612" @@ -129058,8 +129046,8 @@ "MONDO:0002098" "PMID:28240269" "PMID:29875488" - "SNOMEDCT:248808008" "PMID:32341457" + "SNOMEDCT:248808008" "UMLS:C0156312" "SNOMEDCT_US:17585008" "VHOG:0001038" @@ -129086,6 +129074,11 @@ "UMLS:C4072834" "SNOMEDCT_US:48610005" "UMLS:C0277959" + "MONDO:0006092" + "UMLS:C1332329" + "NCIT:C5512" + "EFO:1000093" + "MEDGEN:233993" "ICD9:658.0" "MedDRA:10030293" "MESH:D016104" @@ -129107,11 +129100,6 @@ "MEDGEN:57791" "SCTID:371973000" "MESH:D014594" - "MONDO:0006092" - "UMLS:C1332329" - "NCIT:C5512" - "EFO:1000093" - "MEDGEN:233993" "SNOMEDCT:258801007" "NCIt:C64572" "MEDGEN:1375726" @@ -129614,7 +129602,6 @@ "UMLS:C0220616" "MEDGEN:65074" "NCIT:C6434" - "PMID:35347128" "OMIMPS:135300" "GARD:16582" "SCTID:109620006" @@ -129622,6 +129609,7 @@ "MEDGEN:140775" "DOID:0060466" "UMLS:C0399440" + "PMID:35347128" "PMID:33634981" "Orphanet:90635" "UMLS:C5779548" @@ -129634,9 +129622,6 @@ "OMIM:300814" "MEDGEN:463102" "PMID:28240269" - "UMLS:C2931197" - "OMIM:600991" - "ICD10:Q87.8" "PMID:29875488" "MeSH:D001886" "NCIt:C76205" @@ -129656,6 +129641,9 @@ "OMIM:231000" "SCTID:5963005" "GARD:2443" + "UMLS:C2931197" + "OMIM:600991" + "ICD10:Q87.8" "PMID:28240269" "MedDRA:10052306" "UMLS:C5680106" @@ -129867,7 +129855,6 @@ "NCIt:C231" "MeSH:D000596" "Wikipedia:Amino_acid" - "UMLS:C0749379" "MeSH:D012221" "NCIT:C92189" "MESH:D012221" @@ -129876,6 +129863,7 @@ "MONDO:0024332" "NCIt:C92189" "UMLS:C0035457" + "UMLS:C0749379" "PMID:29875488" "SNOMEDCT:437840005" "PMID:31367044" @@ -130098,15 +130086,14 @@ "MEDGEN:324846" "OMIM:608641" "UMLS:C1837640" - "UMLS:C0796254" - "OMIM:304340" - "ICD10:Q23.8" "ICD9:353.1" "MEDGEN:509637" "DOID:13913" "UMLS:C0154735" "SCTID:4062006" - "PMID:23823483" + "UMLS:C0796254" + "OMIM:304340" + "ICD10:Q23.8" "SCTID:36118008" "DOID:1673" "MESH:D011030" @@ -130115,6 +130102,7 @@ "UMLS:C0032326" "ICD9:512.8" "MEDGEN:19365" + "PMID:23823483" "UMLS:C0266470" "SNOMEDCT_US:16026008" "UMLS:C4021797" @@ -130546,11 +130534,20 @@ "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" @@ -130560,16 +130557,6 @@ "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" - "Orphanet:425" "GARD:17101" "UMLS:C1970211" "MEDGEN:369682" @@ -130577,6 +130564,7 @@ "OMIM:611067" "MESH:C567023" "DOID:0111213" + "Orphanet:425" "PMID:24816252" "MEDGEN:354673" "UMLS:C1862151" @@ -130928,11 +130916,6 @@ "OMIM:620157" "UMLS:C5774271" "MEDGEN:1824044" - "icd11.foundation:1206066048" - "GARD:20800" - "Orphanet:261821" - "UMLS:C5679656" - "MEDGEN:1826014" "CAS:133-32-4" "Reaxys:171120" "BPDB:1465" @@ -130946,6 +130929,11 @@ "PMID:23795714" "PDBeChem:3IB" "KNApSAcK:C00000116" + "icd11.foundation:1206066048" + "GARD:20800" + "Orphanet:261821" + "UMLS:C5679656" + "MEDGEN:1826014" "MESH:D059249" "SCTID:53316003" "DOID:0050147" @@ -131649,7 +131637,6 @@ "MEDGEN:770986" "DOID:0080674" "UMLS:C3642346" - "PMID:35347128" "EMAPA:16982" "BIRNLEX:2564" "EFO:0003543" @@ -131664,6 +131651,7 @@ "EHDAA:6653" "TAO:0000588" "EHDAA2:0002196" + "PMID:35347128" "PMID:33634981" "UMLS:C3495490" "MEDGEN:501193" @@ -132166,7 +132154,6 @@ "ICD10:G00.1" "MeSH:D008586" "NCIT:C157958" - "PMID:35347128" "MetaCyc:CPD-9269" "PMID:19262997" "PMID:24453416" @@ -132198,6 +132185,7 @@ "PMID:19271323" "HMDB:HMDB0033592" "KEGG:C08265" + "PMID:35347128" "NCIt:C114551" "UMLS:C1860493" "HP:0003118" @@ -132259,9 +132247,9 @@ "SCTID:59455009" "NCIT:C40138" "DOID:5829" + "ICD10:E71.3" "SNOMEDCT:246106000" "NCIt:C61299" - "ICD10:E71.3" "UMLS:C0265201" "NORD:1035" "ICD9:759.89" @@ -133833,11 +133821,11 @@ "GARD:5629" "SCTID:36454001" "DOID:0110849" - "MedDRA:10081894" - "ICD10:Q93.2" "PMID:29875488" "UMLS:CN227645" "Orphanet:89832" + "MedDRA:10081894" + "ICD10:Q93.2" "SCTID:416909000" "MedDRA:10049215" "https://web.expasy.org/cellosaurus/CVCL_9S58" @@ -134013,9 +134001,9 @@ "ZFA:0001115" "MA:0000004" "galen:Trunk" + "NCIT:C33816" "BTO:0001493" "BILA:0000116" - "NCIT:C33816" "CALOHA:TS-1071" "XAO:0000054" "SCTID:262225004" @@ -134033,8 +134021,8 @@ "MeSH:C536655" "OMIM:261650" "UMLS:C2931278" - "OMIM:613456" "https://pubchem.ncbi.nlm.nih.gov/compound/440120" + "OMIM:613456" "DOID:771" "NCIT:C7061" "OMIM:225250" @@ -135184,9 +135172,9 @@ "PMID:17582711" "Beilstein:1246090" "PMID:16245817" - "PMID:17028629" "PMID:17027750" "HMDB:HMDB0014704" + "PMID:17028629" "NCIt:C341" "PMID:14160216" "PMID:17949959" @@ -136538,13 +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" @@ -137037,8 +137025,8 @@ "GARD:16455" "OMIM:612581" "MEDGEN:393397" - "MEDGEN:152601" "UMLS:C0728864" + "MEDGEN:152601" "SCTID:363422006" "DOID:10811" "NCIT:C4918" @@ -137064,9 +137052,9 @@ "EMAPA:35592" "Wikipedia:Nephron" "MESH:D009399" - "ZFA:0005282" "EMAPA:28491" "SCTID:361337001" + "ZFA:0005282" "UMLS:C0027713" "GAID:428" "TAO:0002153" @@ -137081,17 +137069,6 @@ "SCTID:26468004" "ICD10CM:H35.82" "PMID:28240269" - "UMLS:C0041178" - "CALOHA:TS-1070" - "Wikipedia:Trophoblast" - "GAID:1152" - "MESH:D014327" - "SCTID:362839005" - "FMA:83029" - "NCIT:C93292" - "BTO:0001079" - "EV:0100120" - "PMID:30659259" "MESH:D010899" "Orphanet:95613" "SNOMEDCT:237701005" @@ -137106,6 +137083,30 @@ "ICD9:253.8" "UMLS:C0032001" "NCIt:C26853" + "UMLS:C0041178" + "CALOHA:TS-1070" + "Wikipedia:Trophoblast" + "GAID:1152" + "MESH:D014327" + "SCTID:362839005" + "FMA:83029" + "NCIT:C93292" + "BTO:0001079" + "EV:0100120" + "PMID:30659259" + "DOID:11248" + "NCIt:C111857" + "SCTID:12546009" + "UMLS:C0019088" + "MONDO:0006784" + "ICD10CM:P53" + "ICD9:776.0" + "MeSH:D006475" + "MedDRA:10019601" + "NCIT:C111857" + "MEDGEN:42406" + "ICD10:P53" + "MESH:D006475" "GARD:7883" "NORD:1844" "Orphanet:83330" @@ -137120,19 +137121,6 @@ "MEDGEN:21913" "ICD9:335.0" "PMID:29875488" - "DOID:11248" - "NCIt:C111857" - "SCTID:12546009" - "UMLS:C0019088" - "MONDO:0006784" - "ICD10CM:P53" - "ICD9:776.0" - "MeSH:D006475" - "MedDRA:10019601" - "NCIT:C111857" - "MEDGEN:42406" - "ICD10:P53" - "MESH:D006475" "Chemspider:97077" "PMID:24048981" "PMID:32613640" @@ -137695,16 +137683,18 @@ "MEDGEN:343120" "UMLS:C1854442" "DOID:0090023" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03457&Product=CC" "RRID:CVCL_0359" "BTO:0001671" "CLO:0007006" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03457&Product=CC" "UMLS:C4707883" "Orphanet:86906" "GARD:19084" "MEDGEN:1642420" "UMLS:C4023695" "FBbt:00017011" + "OMIM:612540" + "ICD10:G71.2" "PMID:29868224" "TAO:0001372" "ZFA:0001372" @@ -137716,8 +137706,6 @@ "VHOG:0000254" "EMAPA:32952" "MA:0000124" - "OMIM:612540" - "ICD10:G71.2" "GARD:21604" "Orphanet:371071" "DOID:0080530" @@ -137849,15 +137837,6 @@ "MONDO:0100550" "ICD9:376.12" "MEDGEN:389999" - "MONDO:0006836" - "SNOMEDCT:31568009" - "ICD9:320.7" - "SCTID:31568009" - "UMLS:C0025293" - "DOID:11572" - "MeSH:D008584" - "MESH:D008584" - "MEDGEN:7536" "SCTID:763213001" "Orphanet:3236" "OMIM:221320" @@ -137874,6 +137853,15 @@ "GARD:2730" "MEDGEN:75703" "MESH:C535328" + "MONDO:0006836" + "SNOMEDCT:31568009" + "ICD9:320.7" + "SCTID:31568009" + "UMLS:C0025293" + "DOID:11572" + "MeSH:D008584" + "MESH:D008584" + "MEDGEN:7536" "RRID:CVCL_7955" "CLO:0009015" "RRID:CVCL_0019" @@ -137942,8 +137930,8 @@ "FMA:18252" "BTO:0003098" "MESH:D012611" - "galen:Scrotum" "EMAPA:19296" + "galen:Scrotum" "GAID:393" "MA:0000409" "SCTID:265794003" @@ -138470,6 +138458,7 @@ "UMLS:C2936741" "MeSH:D007713" "ICD10:Q98.8" + "OMIM:200170" "UMLS:C1370889" "EFO:0000736" "ICDO:8851/3" @@ -138481,7 +138470,6 @@ "ONCOTREE:WDLS" "GARD:19721" "ICD10:D82.8" - "OMIM:200170" "ZFA:0001321" "OMIM:620186" "MEDGEN:1824056" @@ -138501,11 +138489,11 @@ "DOID:6276" "MEDGEN:233657" "EFO:1000067" + "PMID:35347128" "UMLS:C0023221" "SNOMEDCT_US:45939007" "SNOMEDCT:250346004" "NCIt:C64606" - "PMID:35347128" "NCIT:C8196" "ICD10:M31.2" "MeSH:D006103" @@ -139234,14 +139222,14 @@ "UMLS:C2676271" "OMIM:612422" "MEDGEN:382807" + "PMID:28928442" "RRID:CVCL_0299" "BTO:0005964" - "PMID:28928442" "PMID:29875488" "ZFA:0005168" + "SCTID:272023004" "NCIT:C32281" "FMA:17544" - "SCTID:272023004" "Wikipedia:Central_veins_of_liver" "TAO:0005168" "MESH:C563321" @@ -139584,18 +139572,18 @@ "ICD9:362.10" "icd11.foundation:1216073790" "GARD:18912" + "OMIM:607371" + "ICD10:Q87.8" "OMIM:602613" "MESH:C566514" "MEDGEN:400685" "UMLS:C1865117" - "OMIM:607371" - "ICD10:Q87.8" + "PMID:29875488" "SCTID:254601002" "UMLS:C0345906" "DOID:270" "MEDGEN:87522" "NCIT:C4437" - "PMID:29875488" "HMDB:HMDB0012102" "Reaxys:25968936" "LIPID_MAPS_instance:LMSP03010005" @@ -139680,9 +139668,9 @@ "DOID:6871" "PMID:28240269" "FBbt:00000448" + "PMID:29868224" "ICD10:E77.8" "OMIM:608776" - "PMID:29868224" "CAS:551-06-4" "Beilstein:637868" "MeSH:D015058" @@ -139993,16 +139981,16 @@ "KEGG:C10443" "PMID:10923784" "PMID:21466422" + "DOID:0081398" + "MEDGEN:1684550" + "UMLS:C5193131" + "OMIM:618500" "Orphanet:3239" "UMLS:C1857339" "MEDGEN:347427" "GARD:1705" "OMIM:221350" "MESH:C565642" - "DOID:0081398" - "MEDGEN:1684550" - "UMLS:C5193131" - "OMIM:618500" "NCIT:C35781" "DOID:6522" "MEDGEN:235330" @@ -140396,17 +140384,17 @@ "UMLS:C3715199" "MEDGEN:811626" "GARD:18431" - "MAT:0000006" - "PO:0009013" - "BTO:0000852" - "MeSH:D018519" - "UMLS:C1836440" "UMLS:C0020655" "DOID:1931" "MEDGEN:6988" "SCTID:399100005" "MESH:D007027" "ICD9:253.9" + "UMLS:C1836440" + "MAT:0000006" + "PO:0009013" + "BTO:0000852" + "MeSH:D018519" "OMIM:615425" "OMIM:601001" "ICD10:Q81.0" @@ -140513,10 +140501,10 @@ "EFO:0002424" "DOID:0050871" "MEDGEN:42016" - "PMID:29875488" "NCIt:C17634" "SNOMEDCT:63476009" "PMID:35347128" + "PMID:29875488" "PMID:28679651" "SNOMEDCT:34886002" "OMIM:615112" @@ -140641,13 +140629,13 @@ "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" @@ -140877,7 +140865,6 @@ "OMIM:308960" "ICD9:208.0" "MEDGEN:43225" - "RRID:CVCL_8607" "ICD10CM:D72.823" "MedDRA:10024373" "ICD10:D72.823" @@ -140890,11 +140877,7 @@ "SCTID:56478004" "MONDO:0006829" "ICD9:288.62" - "MEDGEN:1842714" - "UMLS:C5679914" - "GARD:17573" - "NANDO:1200556" - "Orphanet:363722" + "RRID:CVCL_8607" "UMLS:C0456498" "MeSH:D010034" "ICD10:H65" @@ -140907,18 +140890,23 @@ "MONDO:0005892" "DOID:11179" "ICD9:381.20" - "Orphanet:314485" - "MEDGEN:1667915" - "GARD:17421" - "OMIM:614881" - "DOID:0111214" - "UMLS:C4749918" + "MEDGEN:1842714" + "UMLS:C5679914" + "GARD:17573" + "NANDO:1200556" + "Orphanet:363722" "Orphanet:1794" "MEDGEN:333072" "UMLS:C1838348" "MESH:C537736" "GARD:4046" "SCTID:763830009" + "Orphanet:314485" + "MEDGEN:1667915" + "GARD:17421" + "OMIM:614881" + "DOID:0111214" + "UMLS:C4749918" "MEDGEN:8166" "UMLS:C0003635" "DOID:0060135" @@ -141161,8 +141149,6 @@ "Orphanet:1431" "ICD9:333.5" "SCTID:49949003" - "TGEMO:00035" - "MGI:2165020" "UMLS:C3495589" "MEDGEN:501210" "MESH:C000596385" @@ -141183,6 +141169,8 @@ "UMLS:C3280660" "Orphanet:164001" "GARD:20055" + "TGEMO:00035" + "MGI:2165020" "RRID:CVCL_0508" "BTO:0002648" "Orphanet:737" @@ -141239,9 +141227,8 @@ "SCTID:422833009" "UMLS:C0279751" "NCIT:C8026" - "PMID:35347128" - "PMID:28240269" "PMID:24816252" + "PMID:28240269" "UMLS:C4025279" "UMLS:C0935626" "AEO:0000094" @@ -141271,6 +141258,7 @@ "Orphanet:90114" "UMLS:C5680178" "MEDGEN:1826161" + "PMID:35347128" "PMID:23733158" "PMID:22770225" "MetaCyc:CHOLINE" @@ -141484,26 +141472,11 @@ "HMDB:0001370" "OMIM:612292" "ICD10:Q87.8" - "Orphanet:284411" - "GARD:17316" - "UMLS:C5681029" - "MEDGEN:1842281" - "NCIT:C4250" - "MEDGEN:266102" - "NCIT:C6505" - "UMLS:C1266129" - "DOID:5690" - "ICDO:8850/1" - "EFO:1000099" - "MONDO:0006097" - "UMLS:C0020514" - "SNOMEDCT_US:237662005" - "SO:0000624" "MESH:D006962" "MEDGEN:9368" "MedDRA:10020708" - "NCIT:C113335" "UMLS:C0020503" + "NCIT:C113335" "NCIt:C113335" "SNOMEDCT:91478007" "SCTID:91478007" @@ -141511,6 +141484,21 @@ "DOID:12466" "HP:0000867" "MeSH:D006962" + "NCIT:C4250" + "MEDGEN:266102" + "NCIT:C6505" + "UMLS:C1266129" + "DOID:5690" + "ICDO:8850/1" + "EFO:1000099" + "MONDO:0006097" + "Orphanet:284411" + "GARD:17316" + "UMLS:C5681029" + "MEDGEN:1842281" + "SO:0000624" + "UMLS:C0020514" + "SNOMEDCT_US:237662005" "PMID:21953190" "KNApSAcK:C00001508" "PMID:22770225" @@ -141613,8 +141601,8 @@ "DOID:2700" "ICDO:9015/0" "MEDGEN:83158" - "PMID:29875488" "PMID:33204752" + "PMID:29875488" "NANDO:2200065" "DOID:5693" "MEDGEN:75842" @@ -141629,10 +141617,10 @@ "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" @@ -141752,8 +141740,8 @@ "MEDGEN:11949" "MeSH:D014400" "DOID:9305" - "MESH:D014400" "SCTID:28399005" + "MESH:D014400" "MONDO:0005967" "UMLS:C0041331" "ICD9:017.7" @@ -142115,8 +142103,8 @@ "NCIT:C122795" "DOID:0080390" "PMID:29875488" - "OMIMPS:604370" "PMID:29875488" + "OMIMPS:604370" "PMID:24816252" "Orphanet:3095" "UMLS:C2748910" @@ -142194,8 +142182,8 @@ "ICD9:157.2" "ICD9:157.0" "ICD9:157.8" - "ICD9:157.1" "MONDO:0009831" + "ICD9:157.1" "DOID:1793" "NCIt:C9005" "FBbt:00005476" @@ -142879,8 +142867,8 @@ "UMLS:C5436934" "OMIM:619167" "GARD:16430" - "PMID:29875488" "PMID:31530798" + "PMID:29875488" "NCIT:C34474" "ICD9:523.10" "UMLS:C0008684" @@ -143043,9 +143031,9 @@ "GARD:19184" "Orphanet:93400" "MEDGEN:1843300" + "PMID:28240269" "OMIM:611228" "ICD10:G60.0" - "PMID:28240269" "GARD:1503" "UMLS:C0345375" "SCTID:93255008" @@ -143117,11 +143105,11 @@ "OMIM:619374" "UMLS:C5543540" "MEDGEN:1788669" + "BTO:0000666" "CLO:0007377" "CLO:0007378" "RRID:CVCL_0399" "CLO:0050632" - "BTO:0000666" "GARD:1454" "ICD9:745.69" "SCTID:360481003" @@ -144031,8 +144019,8 @@ "MESH:C537616" "SCTID:720609003" "MEDGEN:419439" - "PMID:28240269" "OMIM:615574" + "PMID:28240269" "PMID:29875488" "MEDGEN:347441" "MESH:C565652" @@ -144127,7 +144115,6 @@ "OMIM:261000" "MedDRA:10070440" "ICD10:D51.0" - "PMID:29875488" "Orphanet:325345" "SCTID:763683004" "GARD:21469" @@ -144144,6 +144131,7 @@ "SCTID:77506005" "MedDRA:10001935" "ICD9:086.2" + "PMID:29875488" "MEDGEN:473110" "UMLS:C0410787" "SCTID:363045008" @@ -144179,13 +144167,13 @@ "SNOMEDCT:258673006" "NCIt:C28251" "MO:648" + "SCTID:176770005" + "ZFA:0009260" + "FMA:68653" "UMLS:C1846056" "OMIM:300262" "MeSH:C535556" "ICD10:Q87.8" - "SCTID:176770005" - "ZFA:0009260" - "FMA:68653" "SAEL:36" "MA:0000397" "FMA:18255" @@ -144295,15 +144283,15 @@ "MedDRA:10043465" "OMIM:611174" "PMID:19296854" + "MA:0001809" + "EMAPA:37584" + "MA:0001810" "GARD:10881" "MEDGEN:462552" "ICD10CM:H35.5" "OMIM:613835" "UMLS:C3151202" "DOID:0110079" - "MA:0001809" - "EMAPA:37584" - "MA:0001810" "UMLS:C5203410" "Orphanet:221016" "GARD:17135" @@ -144781,6 +144769,7 @@ "ICD9:756.59" "PMID:28240269" "PMID:29403010" + "PMID:29875488" "SCTID:724090001" "GARD:3959" "Orphanet:2676" @@ -144790,7 +144779,6 @@ "MEDGEN:747221" "UMLS:C2316319" "SCTID:430886005" - "PMID:29875488" "Orphanet:96321" "SCTID:72991005" "UMLS:C0032578" @@ -144930,7 +144918,6 @@ "MA:0002501" "PMID:28240269" "PMID:33204752" - "PMID:23823483" "PMID:25092597" "Reaxys:3629989" "KNApSAcK:C00000185" @@ -144943,6 +144930,7 @@ "PMID:25700090" "HMDB:HMDB0034423" "PMID:23823483" + "PMID:23823483" "NCIt:C12314" "BTO:0000907" "MedDRA:10066435" @@ -144980,11 +144968,6 @@ "GARD:8529" "MESH:C537720" "HP:0100746" - "NCIt:C50564" - "ICD10:P20" - "MeSH:D005311" - "SNOMEDCT:276638004" - "Wikipedia:Intrauterine_hypoxia" "UMLS:C0399526" "OMIM:176700" "Orphanet:2964" @@ -144996,6 +144979,11 @@ "MEDGEN:462643" "UMLS:C3151293" "OMIM:613881" + "NCIt:C50564" + "ICD10:P20" + "MeSH:D005311" + "SNOMEDCT:276638004" + "Wikipedia:Intrauterine_hypoxia" "SCTID:29212009" "MEDGEN:68632" "UMLS:C0236664" @@ -145308,17 +145296,17 @@ "ONCOTREE:SDCA" "MEDGEN:220969" "PMID:36168886" + "ICD10:D81.2" "GARD:17313" "DOID:0080060" "MEDGEN:482082" "UMLS:C3280452" "OMIM:614322" "Orphanet:284282" - "ICD10:D81.2" - "SNOMEDCT:25510005" - "MeSH:D006350" "PMID:24248345" "PMID:30586455" + "SNOMEDCT:25510005" + "MeSH:D006350" "UMLS:C1859198" "Orphanet:99948" "MESH:C535419" @@ -145717,12 +145705,12 @@ "MeSH:D013622" "MONDO:0000367" "PMID:18500942" - "CLO:0009038" - "BTO:0002607" - "RRID:CVCL_0628" "UMLS:C5676992" "OMIM:619884" "MEDGEN:1802083" + "CLO:0009038" + "BTO:0002607" + "RRID:CVCL_0628" "KEGG:C06314" "PMID:20833483" "PMID:20959513" @@ -145854,10 +145842,10 @@ "Beilstein:6391251" "GARD:18744" "Orphanet:1724" - "SNOMEDCT_US:419076005" - "UMLS:C1527304" "RRID:CVCL_3770" "CLO:0051452" + "SNOMEDCT_US:419076005" + "UMLS:C1527304" "UMLS:C0002063" "SNOMEDCT_US:21420006" "ChemIDplus:54-12-6" @@ -145889,12 +145877,12 @@ "ICD10:Q93.5" "OMIM:613443" "PMID:29875488" - "PMID:35347128" "DOID:0110312" "OMIM:600858" "MEDGEN:331466" "MESH:C563436" "UMLS:C1833236" + "PMID:35347128" "RRID:CVCL_3744" "BTO:0002544" "UMLS:C0154856" @@ -146675,19 +146663,19 @@ "UMLS:C4747646" "GARD:16456" "OMIM:613480" - "OMIM:614889" - "ICD10:D84.8" "DOID:0110218" "OMIM:601144" "UMLS:C4551804" "MEDGEN:1646402" - "Wikipedia:Blood-injection-injury_type_phobia" "UMLS:C3809753" "MEDGEN:816083" "OMIM:615516" "DOID:0081203" "Orphanet:329195" "GARD:17496" + "OMIM:614889" + "ICD10:D84.8" + "Wikipedia:Blood-injection-injury_type_phobia" "PMID:25147954" "ICD9:434.00" "MEDGEN:199820" @@ -146825,10 +146813,10 @@ "GARD:676" "Orphanet:1062" "ZFA:0000627" - "PubChem:443992" - "KEGG COMPOUND:C12986" "NCIt:C2315" "SNOMEDCT:87568004" + "PubChem:443992" + "KEGG COMPOUND:C12986" "Orphanet:261947" "UMLS:C2931801" "icd11.foundation:127054483" @@ -146873,8 +146861,6 @@ "PMID:33717105" "MA:0000925" "FMA:61884" - "MeSH:C536664" - "UMLS:C1832200" "PMID:18348718" "GARD:6635" "Orphanet:36386" @@ -146884,6 +146870,8 @@ "DOID:0070162" "NORD:1237" "MEDGEN:5645" + "MeSH:C536664" + "UMLS:C1832200" "EFO:0002613" "NCIT:C35873" "MEDGEN:235203" @@ -146954,13 +146942,13 @@ "NCIT:C6752" "UMLS:C1335420" "PMID:28240269" + "PMID:30201983" "MEDGEN:463628" "NCIT:C125709" "DOID:0111084" "UMLS:C3160739" "GARD:15324" "OMIM:600901" - "PMID:30201983" "DOID:0080005" "HMDB:HMDB0000439" "PMID:4630229" @@ -146985,8 +146973,8 @@ "UMLS:C2751260" "PMID:37253714" "PMID:29875488" - "PMID:29628937" "SNOMEDCT:243656002" + "PMID:29628937" "OMIM:610100" "ICD10:G60.0" "PMID:29875488" @@ -147217,8 +147205,8 @@ "NORD:1279" "Orphanet:576" "DOID:0080070" - "PMID:35347128" "ICD10:G31.8" + "PMID:35347128" "PMID:22770225" "PMID:19347970" "SNOMEDCT:113791007" @@ -147240,10 +147228,10 @@ "Orphanet:269510" "MEDGEN:1616373" "PMID:28240269" + "PMID:33204752" "MESH:D001202" "GAID:1175" "BTO:0000091" - "PMID:33204752" "NORD:1960" "GARD:9993" "OMIMPS:211530" @@ -147362,9 +147350,9 @@ "ICD9:588.89" "DOID:14219" "PMID:24816252" + "PMID:29875488" "MedDRA:10037701" "NCIt:C83501" - "PMID:29875488" "Orphanet:98655" "GARD:19536" "SCTID:274096000" @@ -147730,10 +147718,10 @@ "ZFA:0000949" "PMID:35347128" "PMID:35668104" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03558&Product=CC" "SNOMEDCT:24028007" "NCIt:C25228" "MAT:0000492" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03558&Product=CC" "MESH:D009140" "ICD10:M53" "ICD9:729.99" @@ -147841,12 +147829,6 @@ "PMID:29875488" "PMID:25733965" "PMID:33040646" - "UMLS:C0036095" - "MEDGEN:20641" - "MONDO:0021357" - "NCIT:C3361" - "SCTID:235132004" - "NCIt:C35691" "PMID:35347128" "UMLS:C1857333" "MESH:C538049" @@ -147854,6 +147836,12 @@ "GARD:1698" "MEDGEN:387798" "OMIM:221740" + "UMLS:C0036095" + "MEDGEN:20641" + "MONDO:0021357" + "NCIT:C3361" + "SCTID:235132004" + "NCIt:C35691" "PMID:36168886" "NCIT:C3203" "SCTID:403975006" @@ -148801,8 +148789,8 @@ "MeSH:D014383" "TAO:0005253" "ZFA:0005253" - "FMA:74272" "MA:0002605" + "FMA:74272" "NCIT:C33271" "EMAPA:28260" "EMAPA:35969" @@ -149065,6 +149053,13 @@ "MEDGEN:1843487" "DOID:0080010" "UMLS:C0477681" + "MedDRA:10071161" + "NCIt:C4847" + "SCTID:308870004" + "UMLS:C1302363" + "NCIT:C4847" + "MONDO:0006151" + "MEDGEN:224903" "MESH:C537987" "DOID:0110149" "OMIM:607734" @@ -149073,13 +149068,6 @@ "SCTID:719980006" "MEDGEN:334337" "Orphanet:101085" - "MedDRA:10071161" - "NCIt:C4847" - "SCTID:308870004" - "UMLS:C1302363" - "NCIT:C4847" - "MONDO:0006151" - "MEDGEN:224903" "PMID:35347128" "PMID:30366209" "LIPID_MAPS_instance:LMGP02050011" @@ -149819,6 +149807,7 @@ "ICDO:8121/1" "NCIT:C4118" "PMID:37164013" + "PMID:28240269" "NCIt:C12535" "MeSH:D008214" "MESH:D008214" @@ -149828,7 +149817,6 @@ "ZFA:0009250" "FMA:62863" "BTO:0000775" - "PMID:28240269" "SNOMEDCT:258698007" "MO:795" "NCIt:C69149" @@ -149889,6 +149877,20 @@ "PMID:35995766" "PMID:28240269" "PMID:35347128" + "NCIT:C35094" + "OMIM:608516" + "UMLS:C1269683" + "SCTID:300706003" + "ICD9:296.30" + "ICD9:296.20" + "MEDGEN:266123" + "ICD9:296.2" + "MESH:D003865" + "ICD9:296.3" + "MFOMD:0000143" + "SCTID:370143000" + "DOID:1470" + "EFO:0003761" "GARD:17588" "Orphanet:369891" "HGNC:22962" @@ -150013,6 +150015,7 @@ "UMLS:C3554594" "GARD:17735" "OMIM:615155" + "SNOMEDCT:443831000124100" "DOID:0110202" "GARD:12437" "UMLS:C5561933" @@ -150021,7 +150024,6 @@ "OMIM:606483" "SCTID:765744006" "Orphanet:100043" - "SNOMEDCT:443831000124100" "NANDO:2200716" "DOID:14179" "OMIM:300755" @@ -150851,6 +150853,11 @@ "Orphanet:308670" "UMLS:C1856304" "MeSH:D006627" + "UMLS:C1334373" + "NCIT:C9463" + "MEDGEN:272792" + "DOID:4688" + "SNOMEDCT:71158000" "MESH:C536892" "SCTID:720418008" "OMIM:201050" @@ -150858,11 +150865,6 @@ "GARD:3075" "Orphanet:949" "MEDGEN:349738" - "UMLS:C1334373" - "NCIT:C9463" - "MEDGEN:272792" - "DOID:4688" - "SNOMEDCT:71158000" "OMIM:139090" "GARD:2562" "SCTID:51720005" @@ -151163,6 +151165,15 @@ "MedDRA:10063042" "Orphanet:587" "DOID:0050465" + "MedDRA:10063573" + "ICD9:985.0" + "Orphanet:330021" + "SCTID:85180002" + "MONDO:0018020" + "MESH:D008630" + "MeSH:D020262" + "GARD:7021" + "PMID:29875488" "MeSH:D008579" "DOID:3565" "MESH:D011471" @@ -151172,14 +151183,6 @@ "SCTID:399068003" "DOID:10283" "MEDGEN:138169" - "MedDRA:10063573" - "ICD9:985.0" - "Orphanet:330021" - "SCTID:85180002" - "MONDO:0018020" - "MESH:D008630" - "MeSH:D020262" - "GARD:7021" "MEDGEN:376661" "OMIM:262020" "GARD:277" @@ -151199,13 +151202,12 @@ "UMLS:C0342288" "ICD9:250.81" "DOID:0090110" - "PMID:29875488" + "PMID:35347128" "MEDGEN:856149" "DOID:0110463" "GARD:22652" "UMLS:C3892050" "OMIM:615974" - "PMID:35347128" "PMID:29875488" "Orphanet:172976" "PMID:31014085" @@ -151330,10 +151332,10 @@ "DOID:8517" "DOID:8514" "UMLS:C0155671" - "PMID:34503513" "SNOMEDCT:32037004" "MedDRA:10056573" "MeSH:D005925" + "PMID:34503513" "WBls:0000724" "PMID:28240269" "UMLS:C4072940" @@ -151473,6 +151475,7 @@ "UMLS:C0019159" "MEDGEN:42418" "MeSH:D006506" + "PMID:28740083" "MedDRA:10065569" "MEDGEN:489829" "SCTID:19620000" @@ -151481,7 +151484,6 @@ "NCIt:C118755" "NCIT:C118755" "UMLS:C0271055" - "PMID:28740083" "GARD:1696" "MESH:C562704" "DOID:0060872" @@ -151523,10 +151525,6 @@ "SCTID:359761005" "DOID:2880" "PMID:29875488" - "MeSH:C535388" - "OMIM:301835" - "UMLS:C0796028" - "ICD10:E79.8" "SCTID:422588002" "DOID:50152" "DOID:3240" @@ -151538,6 +151536,10 @@ "MESH:D011015" "NCIT:C34932" "UMLS:C1761609" + "MeSH:C535388" + "OMIM:301835" + "UMLS:C0796028" + "ICD10:E79.8" "PMID:34814699" "UMLS:C0751589" "DOID:1659" @@ -152027,8 +152029,6 @@ "UMLS:C0268575" "GARD:465" "RRID:CVCL_2458" - "UMLS:CN205528" - "Orphanet:68347" "UMLS:C2677109" "MEDGEN:383026" "MESH:C567390" @@ -152038,6 +152038,8 @@ "OMIM:612233" "NANDO:1200581" "GARD:17294" + "UMLS:CN205528" + "Orphanet:68347" "PMID:33634981" "PubChem:597" "KEGG COMPOUND:C00380" @@ -152048,11 +152050,11 @@ "ICD10:E77.8" "OMIM:613661" "PMID:28240269" + "PMID:35942816" "GARD:20332" "UMLS:C0432480" "MEDGEN:609542" "Orphanet:199310" - "PMID:35942816" "PMID:29875488" "MeSH:D020804" "DOID:50182" @@ -152361,10 +152363,10 @@ "NCIT:C5501" "MEDGEN:167703" "EFO:1000154" + "PMID:28240269" "UMLS:C3151038" "MEDGEN:462388" "OMIM:613737" - "PMID:28240269" "UMLS:C0553681" "SNOMEDCT_US:234457009" "NANDO:1200110" @@ -152534,8 +152536,8 @@ "OMIM:602450" "MEDGEN:355454" "SCTID:715982006" - "PMID:29875488" "DOID:0110003" + "PMID:29875488" "SCTID:50189006" "NCIT:C131633" "UMLS:C0015530" @@ -152730,7 +152732,6 @@ "ICD9:117.9" "ICD10:E76.2" "OMIM:252940" - "PMID:29875488" "HMDB:HMDB0004645" "AGR:IND607176621" "PMID:16857740" @@ -152772,6 +152773,7 @@ "MEDGEN:152890" "DOID:7587" "NCIT:C4945" + "PMID:29875488" "Wikipedia:Abortion" "ICD10:O06" "ICD10:O04" @@ -152912,6 +152914,9 @@ "GARD:19351" "FMA:86561" "BTO:0002366" + "Orphanet:459033" + "OMIM:616267" + "NCIt:C92461" "CLO:0009591" "BTO:0000458" "RRID:CVCL_0579" @@ -152948,9 +152953,6 @@ "NCIT:C2969" "MeSH:D003480" "MedDRA:10020562" - "Orphanet:459033" - "OMIM:616267" - "NCIt:C92461" "OMIM:221770" "MO:939" "GARD:18506" @@ -153074,9 +153076,6 @@ "KEGG:C01042" "PMID:14645985" "Orphanet:295053" - "ICD10:Q87.0" - "ICD10:D81.2" - "OMIM:608971" "SCTID:33559001" "MEDGEN:78783" "MESH:D056731" @@ -153089,11 +153088,11 @@ "OMIM:262190" "MedDRA:10055608" "MeSH:D006450" + "ICD10:Q87.0" "SNOMEDCT:123973009" "MeSH:D009011" "ICD10:S52.27" "PMID:29875488" - "MedDRA:10044055" "DOID:0111956" "UMLS:C4014863" "Orphanet:319581" @@ -153103,7 +153102,10 @@ "Orphanet:488613" "MEDGEN:1798905" "UMLS:C5567482" + "ICD10:D81.2" + "OMIM:608971" "NCIT:C131504" + "MedDRA:10044055" "UMLS:C3150901" "SCTID:763367009" "GARD:17378" @@ -153551,10 +153553,10 @@ "UMLS:C0268624" "OMIM:272300" "DOID:0111270" - "UMLS:C1866077" "MESH:C535698" "OMIM:601887" "MEDGEN:356151" + "UMLS:C1866077" "GARD:3927" "UMLS:C1868660" "OMIM:167730" @@ -153919,11 +153921,11 @@ "Orphanet:1521" "SCTID:720757001" "GARD:428" - "PMID:28240269" "NCIT:C6246" "DOID:3258" "UMLS:C1335127" "MEDGEN:233267" + "PMID:28240269" "PMID:35347128" "PMID:35668104" "MESH:C535454" @@ -154083,11 +154085,11 @@ "UMLS:C0282207" "MedDRA:10062907" "OMIM:175500" - "PMID:29875488" "MeSH:D014286" + "PMID:29875488" + "PMID:37164013" "PMID:30476138" "CMO:0000257" - "PMID:37164013" "MEDGEN:777096" "NCIT:C4575" "UMLS:C3665405" @@ -154136,6 +154138,7 @@ "OMIM:610140" "PMID:24816252" "Orphanet:295132" + "PMID:35347128" "PMID:28240269" "OMIM:618218" "GARD:17962" @@ -154146,7 +154149,6 @@ "MEDGEN:1668955" "UMLS:C4749824" "GARD:17153" - "PMID:35347128" "MEDGEN:481454" "Orphanet:183675" "OMIM:614102" @@ -154527,6 +154529,7 @@ "MEDGEN:930922" "OMIM:616000" "GARD:13056" + "PMID:37596262" "KEGG COMPOUND:C00326" "NCIt:C16642" "MeSH:D006023" @@ -154534,7 +154537,6 @@ "SNOMEDCT:59804006" "MEDGEN:1843486" "UMLS:C0541403" - "PMID:37596262" "ICD9:712" "SCTID:18834007" "UMLS:C0152087" @@ -154595,6 +154597,8 @@ "MEDGEN:102306" "NCIT:C3628" "PMID:35347128" + "UMLS:CN202399" + "Orphanet:2680" "MeSH:D052200" "SNOMEDCT:86271002" "EFO:0004243" @@ -154622,8 +154626,6 @@ "PMID:22770225" "Beilstein:168797" "MetaCyc:5-HYDROXYINDOLE_ACETATE" - "UMLS:CN202399" - "Orphanet:2680" "UMLS:C0155617" "ICD9:405.09" "MEDGEN:510039" @@ -154888,27 +154890,27 @@ "NCIT:C4771" "ICD9:210.2" "SCTID:92205005" + "MeSH:D063371" "GARD:17364" "SCTID:725463007" "MEDGEN:815250" "OMIM:615234" "UMLS:C3808920" "Orphanet:300298" - "MeSH:D063371" "PMID:29875488" "PMID:29875488" "SNOMEDCT:20855009" + "PubChem:99715" + "CAS:4033-40-3" "PMID:31235808" "DOID:3781" "UMLS:C0003128" "MEDGEN:1951" "MESH:D000858" - "MESH:D005393" - "PubChem:99715" - "CAS:4033-40-3" "PMID:30706531" - "RRID:CVCL_1648" + "MESH:D005393" "PMID:24095734" + "RRID:CVCL_1648" "NCIT:C128191" "DOID:0111509" "Orphanet:33001" @@ -155723,6 +155725,7 @@ "UMLS:C0042225" "SNOMEDCT_US:10761101000119105" "PMID:29875488" + "PMID:35013273" "Orphanet:1522" "NANDO:2201366" "GARD:15013" @@ -155743,7 +155746,6 @@ "SCTID:190952002" "OMIM:226200" "DOID:0111667" - "PMID:35013273" "MeSH:D042726" "SNOMEDCT:113674000" "NCIt:C86226" @@ -156458,6 +156460,9 @@ "OMIM:268400" "MeSH:D011038" "ICD10:Q82.8" + "ICD10:Q76.4" + "MeSH:C537238" + "UMLS:C2931453" "PMID:8437507" "LIPID_MAPS_instance:LMST05020003" "HMDB:HMDB0002580" @@ -156468,12 +156473,10 @@ "Reaxys:9174999" "KEGG:C03642" "Beilstein:9174999" - "ICD10:Q76.4" - "MeSH:C537238" - "UMLS:C2931453" "MedDRA:10052464" "GARD:17011" "Orphanet:165805" + "TAO:0000113" "FMA:76622" "EHDAA2:0000732" "EMAPA_RETIRED:16269" @@ -156482,7 +156485,6 @@ "EMAPA:16098" "EFO:0003492" "VHOG:0000332" - "TAO:0000113" "SNOMEDCT:77601007" "NCIt:C17201" "SNOMEDCT_US:29753000" @@ -156507,12 +156509,12 @@ "MEDGEN:1640451" "UMLS:CN227073" "Orphanet:268322" + "UMLS:C1518729" "MEDGEN:309514" "NCIT:C40031" "DOID:5474" "MONDO:0006340" "EFO:1000428" - "UMLS:C1518729" "ICD10:Q87.1" "ICD9:363.22" "NORD:1829" @@ -156604,9 +156606,9 @@ "DOID:0112378" "OMIM:613151" "GARD:18455" - "PMID:35347128" "UMLS:C0553980" "SNOMEDCT_US:398716006" + "PMID:35347128" "Orphanet:994" "DOID:0111377" "UMLS:C1276035" @@ -157478,6 +157480,8 @@ "DOID:3445" "MEDGEN:235088" "UMLS:C1370468" + "MeSH:D008255" + "SNOMEDCT:52682009" "ICD9:199" "ICD10:C80.1" "ICD9:195.8" @@ -157495,8 +157499,6 @@ "GARD:0011960" "EFO:0000311" "NCIT:C9305" - "MeSH:D008255" - "SNOMEDCT:52682009" "MEDGEN:543973" "Orphanet:169802" "UMLS:C0272322" @@ -158022,11 +158024,11 @@ "GARD:0007236" "SNOMEDCT:19464000" "NCIt:C86199" + "PMID:37164013" "MEDGEN:234123" "DOID:6386" "NCIT:C6216" "UMLS:C1332950" - "PMID:37164013" "UMLS:C0262444" "SNOMEDCT_US:422775003" "UMLS:C0040427" @@ -158218,11 +158220,6 @@ "MEDGEN:1651269" "Orphanet:276280" "UMLS:C4749904" - "PMID:36451823" - "Orphanet:352530" - "GARD:21521" - "UMLS:C4706414" - "MEDGEN:1644787" "ICD9:093.1" "MeSH:D013589" "SNOMEDCT:20735004" @@ -158234,6 +158231,11 @@ "ICD10:A52.02" "MONDO:0006992" "UMLS:C0003511" + "PMID:36451823" + "Orphanet:352530" + "GARD:21521" + "UMLS:C4706414" + "MEDGEN:1644787" "UMLS:C0151798" "SNOMEDCT_US:87248009" "Wikipedia:Vitamin_D" @@ -158840,8 +158842,8 @@ "NCIt:C86513" "MeSH:D016982" "SNOMEDCT:48299003" - "UMLS:C0279652" "MEDGEN:83537" + "UMLS:C0279652" "NCIT:C7973" "DOID:3709" "SNOMEDCT_US:398206004" @@ -158873,8 +158875,8 @@ "DOID:0050436" "UMLS:C0524582" "ICD9:759.89" - "PMID:29875488" "Reaxys:10227786" + "PMID:29875488" "UMLS:C0686615" "SCTID:92408009" "MEDGEN:146355" @@ -159225,12 +159227,12 @@ "EFO:1000124" "MONDO:0006109" "PMID:35347128" + "WBls:0000020" "MESH:D007904" "FMA:58970" "SCTID:280626006" "BTO:0001632" "CALOHA:TS-0542" - "WBls:0000020" "MeSH:D007498" "PMID:35050183" "PMID:31530798" @@ -159451,7 +159453,6 @@ "ICD10CM:E78.5" "PMID:37164013" "PMID:26068415" - "PMID:35347128" "MAT:0000282" "FMA:7208" "SAEL:53" @@ -159460,7 +159461,7 @@ "BTO:0000620" "MA:0000339" "XAO:0000237" - "PMID:23823483" + "PMID:35347128" "UMLS:C0012517" "NORD:705" "DOID:14422" @@ -159473,6 +159474,7 @@ "GARD:4" "MEDGEN:4329" "MESH:D004154" + "PMID:23823483" "OMIM:612923" "GARD:18553" "Orphanet:93580" @@ -159774,6 +159776,8 @@ "ICD10:E75.0" "UMLS:C0751489" "OMIM:268800" + "NCIt:C16554" + "SNOMEDCT:90668006" "MA:0000080" "FMA:9462" "BTO:0000901" @@ -159784,8 +159788,6 @@ "BTO:0000199" "XAO:0000065" "ZFA:0001319" - "NCIt:C16554" - "SNOMEDCT:90668006" "ICD10:Q28.8" "NCIt:C92807" "ICD10:Z35" @@ -160106,16 +160108,16 @@ "MEDGEN:341296" "UMLS:C1848743" "OMIM:275595" - "MO:637" - "PATO:0001344" - "SNOMEDCT:263660008" - "NCIt:C86942" - "NCIt:C72484" "MeSH:D016776" "MESH:D016776" "MONDO:0005671" "SCTID:721809007" "DOID:11897" + "MO:637" + "PATO:0001344" + "SNOMEDCT:263660008" + "NCIt:C86942" + "NCIt:C72484" "FMA:6964" "PMID:28369058" "PMID:29875488" @@ -160320,6 +160322,14 @@ "DOID:9651" "SCTID:417996009" "MESH:D054143" + "PMID:36168886" + "MEDGEN:324636" + "MESH:C536343" + "OMIM:609033" + "UMLS:C1836916" + "SCTID:724065003" + "GARD:9898" + "Orphanet:88628" "NCIT:C6915" "ICDO:9678/3" "ICD10:C83.8" @@ -160336,14 +160346,6 @@ "SCTID:713516007" "MEDGEN:220953" "UMLS:C1292753" - "PMID:36168886" - "MEDGEN:324636" - "MESH:C536343" - "OMIM:609033" - "UMLS:C1836916" - "SCTID:724065003" - "GARD:9898" - "Orphanet:88628" "UMLS:C3278123" "MONDO:0006265" "DOID:7144" @@ -160499,13 +160501,13 @@ "PMID:28240269" "NCIt:C92261" "UMLS:C1275423" - "PMID:26068415" "PDBeChem:TYS" "CAS:956-46-7" "Reaxys:2221342" "PMID:26449609" "LINCS:LSM-36390" "SNOMEDCT:74268000" + "PMID:26068415" "PMID:28240269" "Orphanet:208596" "MEDGEN:1843372" @@ -160698,9 +160700,9 @@ "HMDB:HMDB0000244" "NCIt:C72267" "PMID:29875488" - "PMID:37253714" "PMID:30476138" "NCIt:C64810" + "PMID:37253714" "SCTID:77098009" "MESH:D011546" "GARD:21861" @@ -160785,8 +160787,8 @@ "CALOHA:TS-2081" "MESH:D010994" "SCTID:181609007" - "Wikipedia:Pleura" "FMA:9583" + "Wikipedia:Pleura" "UMLS:C0032225" "VHOG:0000394" "GAID:360" @@ -160817,8 +160819,8 @@ "MESH:D007366" "Wikipedia:Intercostal_muscle" "FMA:13354" - "EFO:0001368" "UMLS:C0021724" + "EFO:0001368" "VHOG:0000903" "EMAPA:18521" "GAID:159" @@ -160997,7 +160999,6 @@ "UMLS:C0524802" "MONDO:0002640" "PMID:28240269" - "UMLS:C0239941" "GARD:16658" "MEDGEN:1677784" "SCTID:715565004" @@ -161005,6 +161006,7 @@ "Orphanet:53696" "OMIM:611890" "UMLS:C5193016" + "UMLS:C0239941" "Orphanet:2176" "MEDGEN:1803732" "GARD:6807"