Microphthalmia, isolated, with coloboma 7

Preferred Label : Microphthalmia, isolated, with coloboma 7;

Symbol : MCOPCB7;

CISMeF acronym : MCOPCB7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily B, member 6 gene (ABCB6, 605452.0001);

Prefixed ID : #614497;

Details

Origin ID

614497;

UMLS CUI

C3281027;

Automatic exact mappings (from CISMeF team)
- ABCB6 wt Allele [NCIt concept]
Genes related to phenotype
- Atp-binding cassette, subfamily b, member 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Coloboma [HPO term]
- Microphthalmia [HPO term]
ORDO concept(s)
- Colobomatous microphthalmia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Colobomatous microphthalmia [ORDO Disease]

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