Cone-rod dystrophy 3

Preferred Label : Cone-rod dystrophy 3;

Symbol : CORD3;

CISMeF acronym : CORD3;

Type : Phenotype, molecular basis known;

Prefixed ID : #604116;

Détails

Origin ID

604116;

UMLS CUI

C1858806;

Broader ORDO disease(s)
- Cone rod dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Cone-Rod dystrophy 3 [MeSH concept]
- Cone-Rod dystrophy 3 [MeSH Supplementary Concept]
- cone-rod dystrophy 3 [DO Concept]
DO Cross reference
- cone-rod dystrophy 3 [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily a, member 4 [OMIM gene]
HPO term(s)
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bull's eye maculopathy [HPO term]
- Central scotoma [HPO term]
- Childhood onset [HPO term]
- Color vision defect [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Electronegative electroretinogram [HPO term]
- Juvenile onset [HPO term]
- Optic disc pallor [HPO term]
- Peripheral visual field loss [HPO term]
- Pigmentary retinopathy [HPO term]
- Visual loss [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Cone rod dystrophy [ORDO Disease]
See also inter- (CISMeF)
- ATP binding cassette subfamily A member 4 [ORDO Gene]
- ATP binding cassette subfamily A member 4 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cone-Rod dystrophy 3 [MeSH Supplementary Concept]
- Cone-Rod dystrophy 3 [MeSH concept]
- cone-rod dystrophy 3 [DO Concept]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]
- cone rod dystrophy [Disease (Nov.)]

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