About: autosomal dominant optic atrophy and cataract     Goto   Sponge   NotDistinct   Permalink

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gene (19q13.32).

AttributesValues
rdf:type
description
  • хвороба людини (uk)
  • gene (19q13.32). (en)
exact match
exact match
Mondo ID
Disease Ontology ID
Mondo ID
Disease Ontology ID
Mondo ID
  • MONDO_0008133
Disease Ontology ID
  • DOID:0111433
rdfs:label
  • autosomal dominant optic atrophy and cataract (en)
skos:prefLabel
  • autosomal dominant optic atrophy and cataract (en)
name
  • autosomal dominant optic atrophy and cataract (en)
instance of
instance of
subclass of
subclass of
UniProt disease ID
Orphanet ID
genetic association
ICD-10-CM
GARD rare disease ID
OMIM ID
Genetics Home Reference Conditions ID
UniProt disease ID
  • DI-02098
Orphanet ID
  • 67036
genetic association
ICD-10-CM
  • H47.2
GARD rare disease ID
  • 10203
OMIM ID
  • 165300
Genetics Home Reference Conditions ID
  • autosomal-dominant-optic-atrophy-and-cataract
skos:altLabel
  • OPA3 (en)
  • Optic atrophy 3 (en)
  • Autosomal dominant optic atrophy type 3 (en)
  • OPA3, autosomal dominant (en)
  • OPTIC ATROPHY 3, AUTOSOMAL DOMINANT (en)
  • OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3 (en)
  • Optic Atrophy and Cataract, Autosomal Dominant (en)
  • Optic atrophy 3 with cataract (en)
  • Optic atrophy, cataract, and neurologic disorder (en)
  • optic atrophy 3 (en)
UMLS CUI
MeSH descriptor ID
ICD-11 (foundation)
MeSH descriptor ID
UMLS CUI
  • C1833809
MeSH descriptor ID
  • C537128
ICD-11 (foundation)
  • 1789029893
is owl:sameAs of
is about of
is subclass of of
is subclass of of
is main subject of
is main subject of
is genetic association of
is genetic association of
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