Microphthalmia, isolated 7

Preferred Label : Microphthalmia, isolated 7;

Symbol : MCOP7;

CISMeF acronym : MCOP7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the growth/differentiation factor-3 gene (GDF3, 606522.0002);

Prefixed ID : #613704;

Details

Origin ID

613704;

UMLS CUI

C3150969;

Automatic exact mappings (from CISMeF team)
- GDF3 wt Allele [NCIt concept]
- Isolated microphthalmia-anophthalmia-coloboma [ORDO Disease]
Currated CISMeF NLP mapping
- isolated microphthalmia 7 [DO Concept]
DO Cross reference
- isolated microphthalmia 7 [DO Concept]
Genes related to phenotype
- Growth/differentiation factor 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Microphthalmia [HPO term]
ORDO concept(s)
- Isolated microphthalmia-anophthalmia-coloboma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- isolated microphthalmia 7 [DO Concept]

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