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revised to fix name space typo
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lschriml committed Feb 28, 2022
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18 changes: 12 additions & 6 deletions src/ontology/HumanDO.obo
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format-version: 1.2
data-version: doid/releases/2022-02-21/doid-non-classified.obo
date: 21:02:2022 17:30
data-version: doid/releases/2022-02-28/doid-non-classified.obo
date: 28:02:2022 17:43
saved-by: lschriml
subsetdef: DO_AGR_slim "DO_AGR_slim"
subsetdef: DO_cancer_slim "DO_cancer_slim"
Expand Down Expand Up @@ -10425,7 +10425,7 @@ is_a: DOID:2914 ! immune system disease
[Term]
id: DOID:0060057
name: gluten allergy
def: "A food allergy to wheat that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance." [url:https\://acaai.org/allergies/types/food-allergies/types-food-allergy/wheat-gluten-allergy]
def: "A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance." [url:https\://acaai.org/allergies/types/food-allergies/types-food-allergy/wheat-gluten-allergy]
subset: DO_IEDB_slim
synonym: "allergy to gluten" EXACT []
synonym: "gluten allergic reaction" EXACT []
Expand Down Expand Up @@ -31326,7 +31326,7 @@ is_a: DOID:322 ! myelitis
[Term]
id: DOID:0080948
name: agenesis of corpus callosum, cardiac, ocular, and genital syndrome
def: "A syndrome that is characterized by characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12." [url:https\://pubmed.ncbi.nlm.nih.gov/31585109/]
def: "A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12." [url:https\://pubmed.ncbi.nlm.nih.gov/31585109/]
xref: OMIM:618929
is_a: DOID:225 ! syndrome

Expand Down Expand Up @@ -31997,7 +31997,6 @@ is_a: DOID:0081044 ! frontonasal dysplasia
[Term]
id: DOID:0081048
name: congenital limbs-face contractures-hypotonia-developmental delay syndrome
namespace: disease-ontology
def: "A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33." [url:https\://pubmed.ncbi.nlm.nih.gov/25864427/, url:https\://pubmed.ncbi.nlm.nih.gov/30167850/, url:https\://www.nature.com/articles/s41598-019-48071-x]
synonym: "CLIFAHDD syndrome" EXACT []
synonym: "congenital contractures of the limbs and face, hypotonia, and developmental delay" EXACT []
Expand Down Expand Up @@ -68300,6 +68299,7 @@ is_a: DOID:118 ! pericardial effusion
[Term]
id: DOID:11486
name: Horner's syndrome
def: "An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics." [url:https\://pubmed.ncbi.nlm.nih.gov/14610154/]
subset: NCIthesaurus
synonym: "Bernard Horner syndrome" EXACT []
synonym: "cervical sympathetic paralysis" EXACT []
Expand Down Expand Up @@ -68449,6 +68449,7 @@ is_a: DOID:8670 ! eating disorder
[Term]
id: DOID:11512
name: Budd-Chiari syndrome
def: "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion." [url:https\://pubmed.ncbi.nlm.nih.gov/16971261/]
synonym: "hepatic vein thrombosis" EXACT []
xref: ICD10CM:I82.0
xref: MESH:D006502
Expand Down Expand Up @@ -68857,6 +68858,7 @@ is_obsolete: true
[Term]
id: DOID:11589
name: Riley-Day syndrome
def: "A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31." [url:https\://pubmed.ncbi.nlm.nih.gov/26769677/]
comment: OMIM mapping confirmed by DO. [SN].
subset: NCIthesaurus
synonym: "familial autonomic nervous dysfunction" EXACT []
Expand Down Expand Up @@ -68916,6 +68918,7 @@ is_obsolete: true
[Term]
id: DOID:11599
name: Frey syndrome
def: "An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways." [https://pubmed.ncbi.nlm.nih.gov/12269550/]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Baillarger syndrome" EXACT []
synonym: "gustatory hyperhidrosis" EXACT []
Expand Down Expand Up @@ -76432,6 +76435,7 @@ property_value: exactMatch MESH:D000168 xsd:string
[Term]
id: DOID:12961
name: Poland syndrome
def: "A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand." [https://pubmed.ncbi.nlm.nih.gov/25831684]
comment: OMIM mapping confirmed by DO. [SN].
subset: NCIthesaurus
synonym: "Poland's syndactyly" EXACT []
Expand Down Expand Up @@ -77161,6 +77165,7 @@ is_a: DOID:224 ! transient cerebral ischemia
[Term]
id: DOID:13096
name: Sneddon syndrome
def: "An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11." [https://pubmed.ncbi.nlm.nih.gov/25075847/]
synonym: "Idiopathic livedo reticularis with systemic involvement" EXACT []
xref: GARD:7664
xref: MESH:D018860
Expand Down Expand Up @@ -85782,6 +85787,7 @@ is_a: DOID:3146 ! lipid metabolism disorder
[Term]
id: DOID:14693
name: Clouston syndrome
def: "An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12." [https://pubmed.ncbi.nlm.nih.gov/8845850/]
comment: OMIM mapping confirmed by DO. [SN].
synonym: "Clouston's hidrotic ectodermal dysplasia" EXACT []
synonym: "Clouston's syndrome" EXACT []
Expand Down Expand Up @@ -140585,9 +140591,9 @@ is_a: DOID:9120 ! amyloidosis
[Term]
id: DOID:9248
name: Pallister-Hall syndrome
def: "A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14." [url:https\://pubmed.ncbi.nlm.nih.gov/31011455/, url:https\://pubmed.ncbi.nlm.nih.gov/8914745/]
comment: OMIM mapping confirmed by DO. [SN].
subset: NCIthesaurus
synonym: "A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14." EXACT []
xref: GARD:7305
xref: MESH:D054975
xref: NCI:C84987
Expand Down
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