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fixed name space typo and updated definition parents
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@lschriml
lschriml committed Feb 28, 2022
1 parent 2a7a4c9 commit f71dca5
Showing 1 changed file with 8 additions and 8 deletions.
16 changes: 8 additions & 8 deletions src/ontology/doid-edit.owl
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Expand Up @@ -54668,7 +54668,7 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081048 "OMIM:616266")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081048 "ORDO:562528")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081048 "CLIFAHDD syndrome")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081048 "congenital contractures of the limbs and face, hypotonia, and developmental delay")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081048 "disease-ontology")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081048 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0081048 "DOID:0081048")
AnnotationAssertion(rdfs:label obo:DOID_0081048 "congenital limbs-face contractures-hypotonia-developmental delay syndrome"@en)
SubClassOf(obo:DOID_0081048 obo:DOID_225)
Expand Down Expand Up @@ -100007,7 +100007,7 @@ SubClassOf(obo:DOID_11482 obo:DOID_118)

# Class: obo:DOID_11486 (Horner's syndrome)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/14610154/"^^xsd:string) obo:IAO_0000115 obo:DOID_11486 "A syndrome 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."^^xsd:string)
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/14610154/"^^xsd:string) obo:IAO_0000115 obo:DOID_11486 "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."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11486 "GARD:6670"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11486 "ICD10CM:G90.2"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11486 "MESH:D006732"^^xsd:string)
Expand Down Expand Up @@ -100181,7 +100181,7 @@ SubClassOf(obo:DOID_11507 obo:DOID_8670)

# Class: obo:DOID_11512 (Budd-Chiari syndrome)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16971261/"^^xsd:string) obo:IAO_0000115 obo:DOID_11512 "A syndrome that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion."^^xsd:string)
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16971261/"^^xsd:string) obo:IAO_0000115 obo:DOID_11512 "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."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11512 "ICD10CM:I82.0"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11512 "MESH:D006502"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11512 "OMIM:600880"^^xsd:string)
Expand Down Expand Up @@ -100669,7 +100669,7 @@ AnnotationAssertion(owl:deprecated obo:DOID_11584 "true"^^xsd:boolean)

# Class: obo:DOID_11589 (Riley-Day syndrome)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26769677/"^^xsd:string) obo:IAO_0000115 obo:DOID_11589 "A syndrome 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."^^xsd:string)
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26769677/"^^xsd:string) obo:IAO_0000115 obo:DOID_11589 "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."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11589 "ICD10CM:G90.1"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11589 "MESH:D004402"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11589 "NCI:C84706"^^xsd:string)
Expand Down Expand Up @@ -100741,7 +100741,7 @@ AnnotationAssertion(owl:deprecated obo:DOID_11597 "true"^^xsd:boolean)

# Class: obo:DOID_11599 (Frey syndrome)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://pubmed.ncbi.nlm.nih.gov/12269550/"^^xsd:string) obo:IAO_0000115 obo:DOID_11599 "A syndrome that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways."^^xsd:string)
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://pubmed.ncbi.nlm.nih.gov/12269550/"^^xsd:string) obo:IAO_0000115 obo:DOID_11599 "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."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11599 "GARD:6467"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11599 "MESH:D013547"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11599 "OMIM:144100"^^xsd:string)
Expand Down Expand Up @@ -109875,7 +109875,7 @@ SubClassOf(obo:DOID_12960 obo:DOID_11971)

# Class: obo:DOID_12961 (Poland syndrome)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://pubmed.ncbi.nlm.nih.gov/25831684"^^xsd:string) obo:IAO_0000115 obo:DOID_12961 "A syndrome 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."^^xsd:string)
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://pubmed.ncbi.nlm.nih.gov/25831684"^^xsd:string) obo:IAO_0000115 obo:DOID_12961 "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."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12961 "GARD:7412"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12961 "ICD10CM:Q79.8"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12961 "MESH:D011045"^^xsd:string)
Expand Down Expand Up @@ -110758,7 +110758,7 @@ SubClassOf(obo:DOID_13095 obo:DOID_224)

# Class: obo:DOID_13096 (Sneddon syndrome)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://pubmed.ncbi.nlm.nih.gov/25075847/"^^xsd:string) obo:IAO_0000115 obo:DOID_13096 "A syndrome that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11."^^xsd:string)
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://pubmed.ncbi.nlm.nih.gov/25075847/"^^xsd:string) obo:IAO_0000115 obo:DOID_13096 "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."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_13096 "GARD:7664"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_13096 "MESH:D018860"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_13096 "OMIM:182410"^^xsd:string)
Expand Down Expand Up @@ -121285,7 +121285,7 @@ SubClassOf(obo:DOID_14692 obo:DOID_3146)

# Class: obo:DOID_14693 (Clouston syndrome)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://pubmed.ncbi.nlm.nih.gov/8845850/"^^xsd:string) obo:IAO_0000115 obo:DOID_14693 "A syndrome that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12."^^xsd:string)
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "https://pubmed.ncbi.nlm.nih.gov/8845850/"^^xsd:string) obo:IAO_0000115 obo:DOID_14693 "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."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_14693 "GARD:2056"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_14693 "MESH:D004476"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_14693 "OMIM:129500"^^xsd:string)
Expand Down

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