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Add diphthamide deficiency syndrome and 3 subtypes
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Closes #1239
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@allenbaron
allenbaron committed Oct 11, 2023
1 parent 1eb8d39 commit 66f4ce3
Showing 1 changed file with 64 additions and 0 deletions.
64 changes: 64 additions & 0 deletions src/ontology/doid-edit.owl
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Original file line number Diff line number Diff line change
Expand Up @@ -2361,6 +2361,10 @@ Declaration(Class(obo:DOID_0070469))
Declaration(Class(obo:DOID_0070471))
Declaration(Class(obo:DOID_0070472))
Declaration(Class(obo:DOID_0070475))
Declaration(Class(obo:DOID_0070476))
Declaration(Class(obo:DOID_0070477))
Declaration(Class(obo:DOID_0070478))
Declaration(Class(obo:DOID_0070479))
Declaration(Class(obo:DOID_0080000))
Declaration(Class(obo:DOID_0080001))
Declaration(Class(obo:DOID_0080005))
Expand Down Expand Up @@ -46355,6 +46359,66 @@ AnnotationAssertion(skos:exactMatch obo:DOID_0070475 "UMLS_CUI:C4049328")
SubClassOf(obo:DOID_0070475 obo:DOID_4450)
SubClassOf(obo:DOID_0070475 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0000362))

# Class: obo:DOID_0070476 (diphthamide deficiency syndrome)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32576952/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35482014/") obo:IAO_0000115 obo:DOID_0070476 "An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2).")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070476 "OMIM:PS616901")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070476 "ORDO:459061")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070476 "DEDSSH")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070476 "craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070476 "developmental delay with short stature, dysmorphic facial features, and sparse hair")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070476 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0070476 "DOID:0070476")
AnnotationAssertion(rdfs:label obo:DOID_0070476 "diphthamide deficiency syndrome")
AnnotationAssertion(skos:exactMatch obo:DOID_0070476 "OMIM:PS616901")
AnnotationAssertion(skos:exactMatch obo:DOID_0070476 "ORDO:459061")
SubClassOf(obo:DOID_0070476 obo:DOID_9252)
SubClassOf(obo:DOID_0070476 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
SubClassOf(obo:DOID_0070476 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0001263))
SubClassOf(obo:DOID_0070476 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0004322))
SubClassOf(obo:DOID_0070476 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0008070))

# Class: obo:DOID_0070477 (diphthamide deficiency syndrome 1)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30877278/") obo:IAO_0000115 obo:DOID_0070477 "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070477 "OMIM:616901")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070477 "DEDSSH1")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070477 "DPH1 syndrome")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070477 "Loucks-Innes syndrome")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070477 "developmental delay with short stature, dysmorphic facial features, and sparse hair 1")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070477 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0070477 "DOID:0070477")
AnnotationAssertion(rdfs:label obo:DOID_0070477 "diphthamide deficiency syndrome 1")
AnnotationAssertion(skos:exactMatch obo:DOID_0070477 "OMIM:616901")
SubClassOf(obo:DOID_0070477 obo:DOID_0070476)

# Class: obo:DOID_0070478 (diphthamide deficiency syndrome 2)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32576952/") obo:IAO_0000115 obo:DOID_0070478 "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070478 "OMIM:620062")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070478 "DEDSSH2")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070478 "developmental delay with short stature, dysmorphic facial features, and sparse hair 2")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070478 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0070478 "DOID:0070478")
AnnotationAssertion(rdfs:label obo:DOID_0070478 "diphthamide deficiency syndrome 2")
AnnotationAssertion(skos:exactMatch obo:DOID_0070478 "OMIM:620062")
SubClassOf(obo:DOID_0070478 obo:DOID_0070476)

# Class: obo:DOID_0070479 (neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35482014/") obo:IAO_0000115 obo:DOID_0070479 "An diphthamide deficiency syndrome characterized by feeding difficulties, difficulty walking, and absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070479 "OMIM:620070")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070479 "NEDSFF")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070479 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0070479 "DOID:0070479")
AnnotationAssertion(rdfs:label obo:DOID_0070479 "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties")
AnnotationAssertion(skos:exactMatch obo:DOID_0070479 "OMIM:620070")
SubClassOf(obo:DOID_0070479 obo:DOID_0070476)
SubClassOf(obo:DOID_0070479 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0001344))
SubClassOf(obo:DOID_0070479 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0002355))
SubClassOf(obo:DOID_0070479 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0011968))
SubClassOf(obo:DOID_0070479 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0031936))

# Class: obo:DOID_0080000 (muscular disease)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007644) Annotation(oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/muscledisorders.html") obo:IAO_0000115 obo:DOID_0080000 "A musculoskeletal system disease that affects the muscles.")
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