Optic atrophy 2

Preferred Label : Optic atrophy 2;

Symbol : OPA2;

CISMeF acronym : OPA2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Optic atrophy, X-linked; Optic atrophy, non-leber type, with early onset;

Inheritance : X-linked;

Prefixed ID : %311050;

Details

Origin ID

311050;

UMLS CUI

C1839576;

Currated CISMeF NLP mapping
- Early-onset X-linked optic atrophy [ORDO Disease]
- Early-onset X-linked optic atrophy (disorder) [SNOMED CT concept]
- Optic atrophy, X-linked [MeSH concept]
- X-linked optic atrophy (disorder) [SNOMED CT concept]
- optic atrophy 2 [DO Concept]
- optic atrophy, X-linked [MeSH Supplementary Concept]
DO Cross reference
- optic atrophy 2 [DO Concept]
HPO term(s)
- Absent Achilles reflex [HPO term]
- Babinski sign [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Hyperactive patellar reflex [HPO term]
- Intellectual disability [HPO term]
- Optic atrophy [HPO term]
- Tremor [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Early-onset X-linked optic atrophy [ORDO Disease]
- Genetic optic atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Early-onset X-linked optic atrophy [ORDO Disease]
- Early-onset X-linked optic atrophy (disorder) [SNOMED CT concept]
- Optic atrophy, X-linked [MeSH concept]
- optic atrophy, X-linked [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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