Cone-rod dystrophy, X-linked, 3

Preferred Label : Cone-rod dystrophy, X-linked, 3;

Symbol : CORDX3;

CISMeF acronym : CORDX3;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the calcium channel, voltage-dependent, alpha-1F subunit gene (CACNA1F, 300110.0007);

Prefixed ID : #300476;

Details

Origin ID

300476;

UMLS CUI

C1845407;

Broader ORDO disease(s)
- Cone rod dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Cone-Rod dystrophy, X-Linked, 3 [MeSH concept]
- Cone-Rod dystrophy, X-Linked, 3 [MeSH Supplementary Concept]
- X-linked cone-rod dystrophy 3 [DO Concept]
DO Cross reference
- X-linked cone-rod dystrophy 3 [DO Concept]
Genes related to phenotype
- Calcium channel, voltage-dependent, alpha-1f subunit [OMIM gene]
HPO term(s)
- Abnormal light- and dark-adapted electroretinogram [HPO term]
- Abnormality of macular pigmentation [HPO term]
- Absent foveal reflex [HPO term]
- Astigmatism [HPO term]
- Central scotoma [HPO term]
- Color vision defect [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Photophobia [HPO term]
- Reduced visual acuity [HPO term]
- Retinal detachment [HPO term]
- Visual impairment [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Cone rod dystrophy [ORDO Disease]
See also inter- (CISMeF)
- calcium voltage-gated channel subunit alpha1 F [ORDO Gene]
- calcium voltage-gated channel subunit alpha1 F [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cone-Rod dystrophy, X-Linked, 3 [MeSH Supplementary Concept]
- Cone-Rod dystrophy, X-Linked, 3 [MeSH concept]
- X-linked cone-rod dystrophy 3 [DO Concept]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]

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