Optic atrophy 12

Preferred Label : Optic atrophy 12;

Symbol : OPA12;

CISMeF acronym : OPA12;

Type : Phenotype, molecular basis known;

Prefixed ID : #618977;

Details

Origin ID

618977;

UMLS CUI

C5436534;

Currated CISMeF NLP mapping
- optic atrophy 12 [DO Concept]
DO Cross reference
- optic atrophy 12 [DO Concept]
Genes related to phenotype
- Afg3-like matrix aaa peptidase, subunit 2 [OMIM gene]
HPO term(s)
- Abnormal Ishihara plate test [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dyschromatopsia [HPO term]
- Optic atrophy [HPO term]
- Optic disc pallor [HPO term]
- Photophobia [HPO term]
- Reduced visual acuity [HPO term]
ORDO concept(s)
- Autosomal dominant optic atrophy, classic form [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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