Microphthalmia/coloboma 6

Preferred Label : Microphthalmia/coloboma 6;

Symbol : MCOPCB6;

CISMeF acronym : MCOPCB6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the growth/differentiation factor-3 gene (GDF3, 606522.0001);

Prefixed ID : #613703;

Details

Origin ID

613703;

UMLS CUI

C3150968;

Automatic exact mappings (from CISMeF team)
- GDF3 wt Allele [NCIt concept]
Genes related to phenotype
- Growth/differentiation factor 3 [OMIM gene]
- Growth/differentiation factor 6 [OMIM gene]
HPO term(s)
- Abnormal temporal bone morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral microphthalmos [HPO term]
- Coloboma [HPO term]
- Digenic inheritance [HPO term]
- Hypoplasia of the fovea [HPO term]
- Lifelong reduced visual acuity, legal blindness to low vision [HPO term]
- Nystagmus [HPO term]
- Optic disc hypoplasia [HPO term]
- Visual impairment [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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