Cone-rod dystrophy 6

Preferred Label : Cone-rod dystrophy 6;

Symbol : CORD6;

CISMeF acronym : CORD6; RCD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RCD2; Retinal cone dystrophy 2;

Inheritance : Autosomal dominant; Autosomal recessive (in 1 family);

Molecular basis : Caused by mutation in the membrane guanylate cyclase-2D gene (GUCY2D, 600179.0005);

Prefixed ID : #601777;

Details

Origin ID

601777;

UMLS CUI

C1866293;

Automatic exact mappings (from CISMeF team)
- symbol withdrawn CORD6 [HGNC gene]
Broader ORDO disease(s)
- Cone rod dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- cone-rod dystrophy 6 [DO Concept]
DO Cross reference
- cone-rod dystrophy 6 [DO Concept]
Genes related to phenotype
- Guanylate cyclase 2d, retinal [OMIM gene]
HPO term(s)
- Age-dependent penetrance [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Central visual loss early [HPO term]
- Childhood onset [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Hemeralopia [HPO term]
- Macular atrophy [HPO term]
- Nystagmus [HPO term]
- Peripheral visual field loss [HPO term]
- Photophobia [HPO term]
- Progressive night blindness [HPO term]
- Reduced visual acuity [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 2 [MeSH concept]
- cone-rod dystrophy 6 [DO Concept]
- retinal cone dystrophy 2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]
- cone rod dystrophy [Disease (Nov.)]

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