Retinal Dystrophy with or without Extraocular Anomalies

Preferred Label : Retinal Dystrophy with or without Extraocular Anomalies;

NCIt synonyms : RDEOA;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the RCBTB1 gene, encoding RCC1 and BTB domain-containing protein 1. It is characterized by severe retinal dystrophy. Associated extraocular abnormalities may or may not be present.;

NCI Metathesaurus CUI : CL602188;

Details

Origin ID

C164155;

UMLS CUI

C4310680;

Currated CISMeF NLP mapping
- Retinal dystrophy with or without extraocular anomalies [OMIM Phenotype]
Has associated anatomic sites
- Eye [NCIt concept]
- Retina [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Retinal dystrophy with or without extraocular anomalies [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_mapped_to_gene
- RCBTB1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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