Cone-rod dystrophy 10

Preferred Label : Cone-rod dystrophy 10;

Symbol : CORD10;

CISMeF acronym : CORD10;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the semaphorin 4A gene (SEMA4A, 607292.0001);

Prefixed ID : #610283;

Details

Origin ID

610283;

UMLS CUI

C1846529;

Broader ORDO disease(s)
- Cone rod dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Cone-Rod dystrophy 10 [MeSH concept]
- Cone-Rod dystrophy 10 [MeSH Supplementary Concept]
- cone-rod dystrophy 10 [DO Concept]
DO Cross reference
- cone-rod dystrophy 10 [DO Concept]
Genes related to phenotype
- Semaphorin 4a [OMIM gene]
HPO term(s)
- Abnormality of skin pigmentation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Epiphora [HPO term]
- Epiphora [HPO term]
- Macular degeneration [HPO term]
- Nyctalopia [HPO term]
- Peripheral visual field loss [HPO term]
- Photophobia [HPO term]
- Progressive visual loss [HPO term]
- Rod-cone dystrophy [HPO term]
ORDO concept(s)
- Cone rod dystrophy [ORDO Disease]
See also inter- (CISMeF)
- semaphorin 4A [ORDO Gene]
- semaphorin 4A [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cone-Rod dystrophy 10 [MeSH Supplementary Concept]
- Cone-Rod dystrophy 10 [MeSH concept]
- cone-rod dystrophy 10 [DO Concept]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]

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