Retinal dystrophy with or without macular staphyloma

Preferred Label : Retinal dystrophy with or without macular staphyloma;

Symbol : RDMS;

CISMeF acronym : RDMS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromosome 21 open reading frame-2 gene (C21ORF2, 603191.0004);

Prefixed ID : #617547;

Details

Origin ID

617547;

UMLS CUI

C4479651;

Genes related to phenotype
- Cilia- and flagella-associated protein 410 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Central scotoma [HPO term]
- Nuclear cataract [HPO term]
- Nyctalopia [HPO term]
- Photophobia [HPO term]
- Retinal dystrophy [HPO term]
ORDO concept(s)
- Cone rod dystrophy-short stature syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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