Optic atrophy 9

Preferred Label : Optic atrophy 9;

Symbol : OPA9;

CISMeF acronym : OPA9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial aconitase gene (ACO2, 100850.0002);

Prefixed ID : #616289;

Details

Origin ID

616289;

UMLS CUI

C4225384;

CISMeF manual mappings
- Autosomal recessive optic atrophy, OPA9 type [ORDO Disease]
Currated CISMeF NLP mapping
- optic atrophy 9 [DO Concept]
DO Cross reference
- optic atrophy 9 [DO Concept]
Genes related to phenotype
- Aconitase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Optic atrophy [HPO term]
- Pallor [HPO term]
- Paracentral scotoma [HPO term]
- Red-green dyschromatopsia [HPO term]
- Reduced visual acuity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Autosomal recessive isolated optic atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive optic atrophy, OPA9 type [ORDO Disease]

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