Retinal cone dystrophy 4

Preferred Label : Retinal cone dystrophy 4;

Symbol : RCD4;

CISMeF acronym : RCD4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the calcium channel, voltage-dependent, alpha-2/delta subunit 4 gene (CACNA2D4, 608171.0001);

Prefixed ID : #610478;

Details

Origin ID

610478;

UMLS CUI

C1864849;

Automatic exact mappings (from CISMeF team)
- Recombinant Soluble Human CD4 Protein [NCIt concept]
Currated CISMeF NLP mapping
- retinal cone dystrophy 4 [MeSH concept]
- retinal cone dystrophy 4 [MeSH Supplementary Concept]
DO Cross reference
- cone dystrophy [DO Concept]
Genes related to phenotype
- Calcium channel, voltage-dependent, alpha-2/delta subunit 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Constriction of peripheral visual field [HPO term]
- Electronegative electroretinogram [HPO term]
- Photophobia [HPO term]
- Reduced visual acuity [HPO term]
- Retinal pigment epithelial mottling [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Cone rod dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinal cone dystrophy 4 [MeSH Supplementary Concept]
- retinal cone dystrophy 4 [MeSH concept]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]

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