Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities

Preferred Label : Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities;

NCIt synonyms : RDGCA;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the ITM2B gene, encoding integral membrane protein 2B. It is characterized by progressive loss of central vision, and inner retinal dystrophy with ganglion cell abnormalities.;

Détails

Origin ID

C168587;

UMLS CUI

C4015146;

Currated CISMeF NLP mapping
- Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities [OMIM Phenotype]
- Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies [ORDO Disease]
- Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (disorder) [SNOMED CT concept]
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 inner retinal dysfunction and ganglion cell abnormalities [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Eye [NCIt concept]
- Retina [NCIt concept]
disease_mapped_to_gene
- ITM2B Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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