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Updates to retinitis pigmentosa 17
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#1398
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@csbjohnson
csbjohnson committed Oct 29, 2024
1 parent c0ba3df commit 5e7c8d3
Showing 1 changed file with 14 additions and 11 deletions.
25 changes: 14 additions & 11 deletions src/ontology/doid-edit.owl
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Original file line number Diff line number Diff line change
@@ -1,4 +1,4 @@
Prefix(:=<http://purl.obolibrary.org/obo/doid.owl#>)
Prefix(:=<http://purl.obolibrary.org/obo/doid.owl/>)
Prefix(dc:=<http://purl.org/dc/elements/1.1/>)
Prefix(obo:=<http://purl.obolibrary.org/obo/>)
Prefix(owl:=<http://www.w3.org/2002/07/owl#>)
Expand Down Expand Up @@ -14189,6 +14189,9 @@ Declaration(Class(obo:DOID_999))
Declaration(Class(obo:DOID_9993))
Declaration(Class(obo:DOID_9995))
Declaration(Class(obo:DOID_9997))
Declaration(Class(obo:HP_0000773))
Declaration(Class(obo:UBERON_0002228))
Declaration(Class(obo:UBERON_3000701))
Declaration(ObjectProperty(obo:IDO_0000664))
Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO#_is_a>))
Declaration(AnnotationProperty(obo:IAO_0000115))
Expand Down Expand Up @@ -45860,7 +45863,7 @@ SubClassOf(obo:DOID_0070308 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0019161

# Class: obo:DOID_0070309 (absence epilepsy)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15800200") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC3697883/") obo:IAO_0000115 obo:DOID_0070309 "An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC3697883/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15800200") obo:IAO_0000115 obo:DOID_0070309 "An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070309 "MESH:D004832")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070309 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0070309 "DOID:0070309")
Expand Down Expand Up @@ -50336,9 +50339,9 @@ SubClassOf(obo:DOID_0080029 obo:DOID_0050950)
# Class: obo:DOID_0080030 (spondyloepimetaphyseal dysplasia, Missouri type)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16167086/") obo:IAO_0000115 obo:DOID_0080030 "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080030 "GARD:10618")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080030 "MESH:C566574")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080030 "MIM:602111")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080030 "GARD:10618")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080030 "ORDO:93356")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080030 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0080030 "DOID:0080030")
Expand Down Expand Up @@ -50401,9 +50404,9 @@ AnnotationAssertion(owl:deprecated obo:DOID_0080034 "true"^^xsd:boolean)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia") obo:IAO_0000115 obo:DOID_0080036 "A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull."@en)
AnnotationAssertion(oboInOwl:hasAlternativeId obo:DOID_0080036 "DOID:0080035")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080036 "GARD:4771")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080036 "MIM:239100")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080036 "ORDO:3152")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080036 "GARD:4771")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080036 "van Buchem disease"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080036 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0080036 "DOID:0080036")
Expand Down Expand Up @@ -54171,7 +54174,7 @@ SubClassOf(obo:DOID_0080355 obo:DOID_3119)

# Class: obo:DOID_0080356 (IgG4-related disease)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/12521/index") Annotation(oboInOwl:hasDbXref "url:https://www.nejm.org/doi/full/10.1056/NEJMra1104650") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC4760655/") obo:IAO_0000115 obo:DOID_0080356 "An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/12521/index") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC4760655/") Annotation(oboInOwl:hasDbXref "url:https://www.nejm.org/doi/full/10.1056/NEJMra1104650") obo:IAO_0000115 obo:DOID_0080356 "An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080356 "GARD:12521")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080356 "ORDO:284264")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080356 "disease_ontology")
Expand Down Expand Up @@ -56777,7 +56780,7 @@ SubClassOf(obo:DOID_0080574 ObjectSomeValuesFrom(obo:RO_0004019 obo:HP_0001197))

# Class: obo:DOID_0080575 (Larsen-like syndrome B3GAT3 type)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25893793") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC4654953/") obo:IAO_0000115 obo:DOID_0080575 "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC4654953/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25893793") obo:IAO_0000115 obo:DOID_0080575 "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080575 "MIM:245600")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080575 "ORDO:284139")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080575 "Larsen-like syndrome, B3GAT3 type"@en)
Expand Down Expand Up @@ -62729,7 +62732,7 @@ SubClassOf(obo:DOID_0081125 obo:DOID_0081072)

# Class: obo:DOID_0081126 (DeSanto-Shinawi syndrome)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26264232/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK465012/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC9034681/") obo:IAO_0000115 obo:DOID_0081126 "A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11."@en)
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26264232/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC9034681/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK465012/") obo:IAO_0000115 obo:DOID_0081126 "A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081126 "MIM:616708")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081126 "ORDO:284169")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081126 "ORDO:466943")
Expand Down Expand Up @@ -74096,7 +74099,7 @@ SubClassOf(obo:DOID_0110403 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014

# Class: obo:DOID_0110404 (retinitis pigmentosa 17)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15090652") obo:IAO_0000115 obo:DOID_0110404 "A retinitis pigmentosa that has_material_basis_in mutation in the CA4 gene on chromosome 17q23.1."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33022222/") obo:IAO_0000115 obo:DOID_0110404 "A retinitis pigmentosa characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression that has_material_basis_in duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110404 "ICD10CM:H35.5")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110404 "MESH:C563437")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110404 "MIM:600852")
Expand Down Expand Up @@ -83910,7 +83913,7 @@ SubClassOf(obo:DOID_0111139 obo:DOID_700)

# Class: obo:DOID_0111140 (IGSF1 deficiency syndrome)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23143598") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC3915563/") obo:IAO_0000115 obo:DOID_0111140 "A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC3915563/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23143598") obo:IAO_0000115 obo:DOID_0111140 "A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111140 "ICD10CM:E03.1")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111140 "MIM:300888")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111140 "ORDO:329235")
Expand Down Expand Up @@ -151045,7 +151048,7 @@ SubClassOf(obo:DOID_3044 obo:DOID_0060502)

# Class: obo:DOID_3047 (Wissler-Fanconi syndrome)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Wissler%27s_syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8150635") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC5098720/") obo:IAO_0000115 obo:DOID_3047 "A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Wissler%27s_syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/articles/PMC5098720/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8150635") obo:IAO_0000115 obo:DOID_3047 "A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3047 "MESH:D014924")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3047 "SNOMEDCT_US_2023_03_01:68190001")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3047 "UMLS_CUI:C0043195")
Expand Down Expand Up @@ -153442,8 +153445,8 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3261 "UMLS_CUI:C1968689")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3261 "UMLS_CUI:C2936739")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_3261 "Job syndrome"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_3261 "Job's syndrome"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_3261 "hyperimmunoglobulin E syndrome"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_3261 "STAT3 Hyper IgE syndrome")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_3261 "hyperimmunoglobulin E syndrome"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_3261 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_3261 "DOID:3261")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_3261 doid:DO_rare_slim)
Expand Down

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