Optic atrophy 3, autosomal dominant

Preferred Label : Optic atrophy 3, autosomal dominant;

Symbol : OPA3;

CISMeF acronym : OPA3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Optic atrophy and cataract, autosomal dominant;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the outer mitochondrial membrane lipid metabolism regulator OPA3 gene (606580.0002);

Prefixed ID : #165300;

Détails

Origin ID

165300;

UMLS CUI

C1833809;

Automatic exact mappings (from CISMeF team)
- costeff optic atrophy syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Autosomal dominant optic atrophy and cataract [ICD-11 More detail]
- Autosomal dominant optic atrophy and cataract [ORDO Disease]
- Autosomal dominant optic atrophy and cataract (disorder) [SNOMED CT concept]
- Optic atrophy and cataract, autosomal dominant [MeSH concept]
- optic atrophy 3 [DO Concept]
- optic atrophy and cataract, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- optic atrophy 3 [DO Concept]
Genes related to phenotype
- Outer mitochondrial membrane lipid metabolism regulator opa3 [OMIM gene]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Hearing impairment [HPO term]
- Optic atrophy [HPO term]
- Optic disc pallor [HPO term]
- Reduced visual acuity [HPO term]
- Scotoma [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Autosomal dominant optic atrophy and cataract [ORDO Disease]
- Genetic optic atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant optic atrophy and cataract [ORDO Disease]
- Autosomal dominant optic atrophy and cataract [ICD-11 More detail]
- Autosomal dominant optic atrophy and cataract (disorder) [SNOMED CT concept]
- Autosomal dominant optic atrophy and peripheral neuropathy [ORDO Disease]
- Optic atrophy and cataract, autosomal dominant [MeSH concept]
- optic atrophy 3 [DO Concept]
- optic atrophy and cataract, autosomal dominant [MeSH Supplementary Concept]

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