Gyrate Atrophy

Preferred Label : Gyrate Atrophy;

NCIt definition : A rare autosomal recessive inherited disorder caused by mutations in the OAT gene. It is characterized by progressive atrophy of the retina and choroid, leading to loss of vision and blindness.;

Details

Origin ID

C84744;

UMLS CUI

C0018425;

Automatic exact mappings (from CISMeF team)
- ornithine aminotransferase [ORDO Gene]
- ornithine aminotransferase [HGNC gene]
Currated CISMeF NLP mapping
- Gyrate atrophy (disorder) [SNOMED CT concept]
- Gyrate atrophy of choroid and retina [OMIM Phenotype]
- gyrate atrophy [DO Concept]
- gyrate atrophy [Disease (Nov.)]
- gyrate atrophy [MeSH Descriptor]
- gyrate atrophy [MeSH concept]
DO Cross reference
- gyrate atrophy [DO Concept]
Has associated anatomic sites
- Eye [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gyrate atrophy (disorder) [SNOMED CT concept]
- Gyrate atrophy of choroid and retina [OMIM Phenotype]
- Gyrate atrophy of the choroid and retina [MedDRA LLT]
- gyrate atrophy [DO Concept]
- gyrate atrophy [Disease (Nov.)]
- gyrate atrophy [MeSH concept]
- gyrate atrophy [MeSH Descriptor]
- gyrate atrophy of the choroid and retina [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- OAT Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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