Microphthalmia, isolated, with coloboma 10

Preferred Label : Microphthalmia, isolated, with coloboma 10;

Symbol : MCOPCB10;

CISMeF acronym : MCOPCB10;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the retinol-binding protein-4 gene (RBP4, 180250.0004);

Laboratory abnormalities : Low serum vitamin A levels; Reduced plasma retinol fluorescence;

Prefixed ID : #616428;

Details

Origin ID

616428;

UMLS CUI

C4225330;

Genes related to phenotype
- Retinol-binding protein 4 [OMIM gene]
HPO term(s)
- Anophthalmia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chorioretinal coloboma [HPO term]
- Iris coloboma [HPO term]
- Microcoria [HPO term]
- Microphthalmia [HPO term]
ORDO concept(s)
- Colobomatous microphthalmia [ORDO Disease]
See also inter- (CISMeF)
- RBP4 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Colobomatous microphthalmia [ORDO Disease]

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