Retinal dystrophy and iris coloboma with or without congenital cataract

Preferred Label : Retinal dystrophy and iris coloboma with or without congenital cataract;

Symbol : RDICC;

CISMeF acronym : RDICC;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the micro RNA-204 gene (MIR204, 615147.0001);

Prefixed ID : #616722;

Details

Origin ID

616722;

UMLS CUI

C4225233;

Automatic exact mappings (from CISMeF team)
- Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome [ORDO Disease]
Genes related to phenotype
- Micro rna 204 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Developmental cataract [HPO term]
- Iris coloboma [HPO term]
- Posterior synechiae of the anterior chamber [HPO term]
- Reduced visual acuity [HPO term]
- Retinal atrophy [HPO term]
ORDO concept(s)
- Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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