Macular dystrophy with central cone involvement

Preferred Label : Macular dystrophy with central cone involvement;

Symbol : CCMD;

CISMeF acronym : CCMD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the major facilitator superfamily domain-containing protein-8 gene (MFSD8, 611124.0008);

Prefixed ID : #616170;

Details

Origin ID

616170;

UMLS CUI

C4015371;

Automatic exact mappings (from CISMeF team)
- MFSD8 wt Allele [NCIt concept]
Genes related to phenotype
- Major facilitator superfamily domain-containing protein 8 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bull's eye maculopathy [HPO term]
- Central scotoma [HPO term]
- Macular dystrophy [HPO term]
- Optic disc pallor [HPO term]
- Reduced visual acuity [HPO term]
- Visual impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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