Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities

Preferred Label : Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities;

Symbol : RDGCA;

CISMeF acronym : RDGCA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the integral membrane protein-2B gene (ITM2B, 603904.0003);

Prefixed ID : #616079;

Details

Origin ID

616079;

UMLS CUI

C4015146;

Currated CISMeF NLP mapping
- Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities [NCIt concept]
- 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]
Genes related to phenotype
- Integral membrane protein 2b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Central scotoma [HPO term]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Photophobia [HPO term]
- Retinal dystrophy [HPO term]
ORDO concept(s)
- Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients