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"