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added ALS subtypes
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lschriml committed Oct 17, 2023
1 parent ccaded2 commit 5e4c98c
Showing 1 changed file with 62 additions and 0 deletions.
62 changes: 62 additions & 0 deletions src/ontology/doid-edit.owl
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Expand Up @@ -3698,6 +3698,11 @@ Declaration(Class(obo:DOID_0081374))
Declaration(Class(obo:DOID_0081375))
Declaration(Class(obo:DOID_0081376))
Declaration(Class(obo:DOID_0081377))
Declaration(Class(obo:DOID_0081378))
Declaration(Class(obo:DOID_0081379))
Declaration(Class(obo:DOID_0081380))
Declaration(Class(obo:DOID_0081381))
Declaration(Class(obo:DOID_0081382))
Declaration(Class(obo:DOID_0090001))
Declaration(Class(obo:DOID_0090002))
Declaration(Class(obo:DOID_0090003))
Expand Down Expand Up @@ -29928,6 +29933,8 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0060193 "DOID:0060193")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0060193 doid:DO_rare_slim)
AnnotationAssertion(rdfs:label obo:DOID_0060193 "amyotrophic lateral sclerosis type 1")
SubClassOf(obo:DOID_0060193 obo:DOID_332)
SubClassOf(obo:DOID_0060193 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
SubClassOf(obo:DOID_0060193 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))

# Class: obo:DOID_0060194 (amyotrophic lateral sclerosis type 2)

Expand Down Expand Up @@ -61479,6 +61486,61 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0081377 "DOID:0081377")
AnnotationAssertion(rdfs:label obo:DOID_0081377 "COX deficiency, benign infantile mitochondrial myopathy"@en)
SubClassOf(obo:DOID_0081377 obo:DOID_3762)

# Class: obo:DOID_0081378 (amyotrophic lateral sclerosis type 24)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26945885/") obo:IAO_0000115 obo:DOID_0081378 "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_0081378 "OMIM:617892")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081378 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0081378 "DOID:0081378")
AnnotationAssertion(rdfs:label obo:DOID_0081378 "amyotrophic lateral sclerosis type 24"@en)
SubClassOf(obo:DOID_0081378 obo:DOID_332)
SubClassOf(obo:DOID_0081378 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
SubClassOf(obo:DOID_0081378 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003581))

# Class: obo:DOID_0081379 (amyotrophic lateral sclerosis type 25)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29566793/") obo:IAO_0000115 obo:DOID_0081379 "An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and 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_0081379 "OMIM:617921")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081379 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0081379 "DOID:0081379")
AnnotationAssertion(rdfs:label obo:DOID_0081379 "amyotrophic lateral sclerosis type 25"@en)
SubClassOf(obo:DOID_0081379 obo:DOID_332)
SubClassOf(obo:DOID_0081379 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))

# Class: obo:DOID_0081380 (amyotrophic lateral sclerosis type 26)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28817800/") obo:IAO_0000115 obo:DOID_0081380 "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_0081380 "OMIM:619133")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081380 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0081380 "DOID:0081380")
AnnotationAssertion(rdfs:label obo:DOID_0081380 "amyotrophic lateral sclerosis type 26"@en)
SubClassOf(obo:DOID_0081380 obo:DOID_332)
SubClassOf(obo:DOID_0081380 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
SubClassOf(obo:DOID_0081380 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003581))

# Class: obo:DOID_0081381 (juvenile amyotrophic lateral sclerosis type 27)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34059824/") obo:IAO_0000115 obo:DOID_0081381 "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_0081381 "OMIM:620285")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081381 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0081381 "DOID:0081381")
AnnotationAssertion(rdfs:label obo:DOID_0081381 "juvenile amyotrophic lateral sclerosis type 27"@en)
SubClassOf(obo:DOID_0081381 obo:DOID_332)
SubClassOf(obo:DOID_0081381 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
SubClassOf(obo:DOID_0081381 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003621))

# Class: obo:DOID_0081382 (amyotrophic lateral sclerosis type 28)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37339631/") obo:IAO_0000115 obo:DOID_0081382 "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_0081382 "OMIM:620452")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081382 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0081382 "DOID:0081382")
AnnotationAssertion(rdfs:label obo:DOID_0081382 "amyotrophic lateral sclerosis type 28"@en)
SubClassOf(obo:DOID_0081382 obo:DOID_332)
SubClassOf(obo:DOID_0081382 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
SubClassOf(obo:DOID_0081382 ObjectSomeValuesFrom(obo:IDO_0000664 obo:SO_0002165))
SubClassOf(obo:DOID_0081382 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003581))

# Class: obo:DOID_0090001 (Fraser syndrome)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12766769") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15838507") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16894541") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22510445") obo:IAO_0000115 obo:DOID_0090001 "A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14.")
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