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Revert two previous commits due to IRI errors
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This reverts commits 29a73c0
("adding ALS subtypes") and
5a1d014 ("updated IRIs").
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@allenbaron
allenbaron committed Oct 17, 2023
1 parent 29a73c0 commit ccaded2
Showing 1 changed file with 2 additions and 29 deletions.
31 changes: 2 additions & 29 deletions src/ontology/doid-edit.owl
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Original file line number Diff line number Diff line change
Expand Up @@ -61393,86 +61393,59 @@ AnnotationAssertion(rdfs:label obo:DOID_0081369 "Paget's disease of bone 6"@en)
SubClassOf(obo:DOID_0081369 obo:DOID_5408)
SubClassOf(obo:DOID_0081369 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))

# Class: obo:DOID_0081370 (amyotrophic lateral sclerosis type 24)
# Class: obo:DOID_0081370 (LADD syndrome)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://medlineplus.gov/genetics/condition/lacrimo-auriculo-dento-digital-syndrome/") obo:IAO_0000115 obo:DOID_0081370 "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers.")
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26945885/") obo:IAO_0000115 obo:DOID_0081370 "An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081370 "OMIM:17892")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081370 "OMIM:PS149730")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081370 "ORDO:2363")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081370 "Lacrimo-auriculo-dento-digital (LADD) syndrome")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081370 "lacrimoauriculodentodigital syndrome")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081370 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0081370 "DOID:0081370")
AnnotationAssertion(rdfs:label obo:DOID_0081370 "LADD syndrome"@en)
AnnotationAssertion(rdfs:label obo:DOID_0081370 "amyotrophic lateral sclerosis type 24"@en)
SubClassOf(obo:DOID_0081370 obo:DOID_225)
SubClassOf(obo:DOID_0081370 obo:DOID_332)
SubClassOf(obo:DOID_0081370 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
SubClassOf(obo:DOID_0081370 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003581))

# Class: obo:DOID_0081371 (lacrimoauriculodentodigital syndrome 2)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16501574/") obo:IAO_0000115 obo:DOID_0081371 "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments.")
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29566793/") obo:IAO_0000115 obo:DOID_0081371 "An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively).")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081371 "OMIM:617921")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081371 "OMIM:620192")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081371 "Lacrimo-auriculo-dento-digital syndrome 2")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081371 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0081371 "DOID:0081371")
AnnotationAssertion(rdfs:label obo:DOID_0081371 "amyotrophic lateral sclerosis type 25"@en)
AnnotationAssertion(rdfs:label obo:DOID_0081371 "lacrimoauriculodentodigital syndrome 2"@en)
SubClassOf(obo:DOID_0081371 obo:DOID_0081370)
SubClassOf(obo:DOID_0081371 obo:DOID_332)
SubClassOf(obo:DOID_0081371 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))

# Class: obo:DOID_0081372 (lacrimoauriculodentodigital syndrome 3)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16630169/") obo:IAO_0000115 obo:DOID_0081372 "A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12.")
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28817800/") obo:IAO_0000115 obo:DOID_0081372 "An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081372 "OMIM:619133")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081372 "OMIM:620193")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081372 "Lacrimo-auriculo-dento-digital syndrome 3")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081372 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0081372 "DOID:0081372")
AnnotationAssertion(rdfs:label obo:DOID_0081372 "amyotrophic lateral sclerosis type 26"@en)
AnnotationAssertion(rdfs:label obo:DOID_0081372 "lacrimoauriculodentodigital syndrome 3"@en)
SubClassOf(obo:DOID_0081372 obo:DOID_0081370)
SubClassOf(obo:DOID_0081372 obo:DOID_332)
SubClassOf(obo:DOID_0081372 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))

# Class: obo:DOID_0081373 (disabling pansclerotic morphea)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30838436/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37256972/") obo:IAO_0000115 obo:DOID_0081373 "A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone.")
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34059824/") obo:IAO_0000115 obo:DOID_0081373 "An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081373 "OMIM:620285")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081373 "disabling pansclerotic morphea of childhood")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081373 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0081373 "DOID:0081373")
AnnotationAssertion(rdfs:label obo:DOID_0081373 "disabling pansclerotic morphea"@en)
AnnotationAssertion(rdfs:label obo:DOID_0081373 "juvenile amyotrophic lateral sclerosis type 27"@en)
SubClassOf(obo:DOID_0081373 obo:DOID_332)
SubClassOf(obo:DOID_0081373 obo:DOID_8472)
SubClassOf(obo:DOID_0081373 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
SubClassOf(obo:DOID_0081373 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003621))
SubClassOf(obo:DOID_0081373 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0011463))

# Class: obo:DOID_0081374 (amyotrophic lateral sclerosis type 28)
# Class: obo:DOID_0081374 (nemaline myopathy 5B)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35165004/") obo:IAO_0000115 obo:DOID_0081374 "A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset.")
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37339631/") obo:IAO_0000115 obo:DOID_0081374 "An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081374 "OMIM:620386")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081374 "OMIM:620452")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081374 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0081374 "DOID:0081374")
AnnotationAssertion(rdfs:label obo:DOID_0081374 "amyotrophic lateral sclerosis type 28"@en)
AnnotationAssertion(rdfs:label obo:DOID_0081374 "nemaline myopathy 5B"@en)
SubClassOf(obo:DOID_0081374 obo:DOID_3191)
SubClassOf(obo:DOID_0081374 obo:DOID_332)
SubClassOf(obo:DOID_0081374 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
SubClassOf(obo:DOID_0081374 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
SubClassOf(obo:DOID_0081374 ObjectSomeValuesFrom(obo:IDO_0000664 obo:SO_0002165))
SubClassOf(obo:DOID_0081374 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003581))
SubClassOf(obo:DOID_0081374 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0011463))

# Class: obo:DOID_0081375 (nemaline myopathy 5C)
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