Optic Atrophy 1

Preferred Label : Optic Atrophy 1;

NCIt synonyms : OPA1; Kjer-type Optic Atrophy;

NCIt definition : An autosomal dominant form of hereditary optic atrophy caused by mutation(s) in the OPA1 gene, encoding dynamin-like 120 kDa protein, mitochondrial.;

NCI Metathesaurus CUI : CL1378814;

Details

Origin ID

C169000;

UMLS CUI

C0338508;

Automatic exact mappings (from CISMeF team)
- OPA1 mitochondrial dynamin like GTPase [ORDO Gene]
- Opa1 mitochondrial dynamin-like gtpase [OMIM gene]
- mediator complex subunit 12 [ORDO Gene]
Currated CISMeF NLP mapping
- Optic atrophy 1 [OMIM Phenotype]
- optic atrophy 1 [DO Concept]
- optic atrophy, autosomal dominant [MeSH Descriptor]
Has associated anatomic sites
- Eye [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant optic atrophy [ORDO Disease]
- Autosomal dominant optic atrophy classic form (disorder) [SNOMED CT concept]
- Autosomal dominant optic atrophy, classic form [ORDO Disease]
- Childhood-onset autosomal dominant optic atrophy [ICD-11 More detail]
- Optic atrophy 1 [OMIM Phenotype]
- dominant hereditary optic atrophy [SNOMED Notion]
- optic atrophy, autosomal dominant [MeSH Descriptor]
- optic atrophy, autosomal dominant [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- OPA1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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