Microphthalmia, isolated 4

Preferred Label : Microphthalmia, isolated 4;

Symbol : MCOP4;

CISMeF acronym : MCOP4;

Type : Phenotype, molecular basis known;

Prefixed ID : #613094;

Details

Origin ID

613094;

UMLS CUI

C2751307;

Automatic exact mappings (from CISMeF team)
- Isolated microphthalmia-anophthalmia-coloboma [ORDO Disease]
Currated CISMeF NLP mapping
- isolated microphthalmia 4 [DO Concept]
- microphthalmia, isolated 4 [MeSH concept]
- microphthalmia, isolated 4 [MeSH Supplementary Concept]
DO Cross reference
- isolated microphthalmia 4 [DO Concept]
Genes related to phenotype
- Growth/differentiation factor 6 [OMIM gene]
HPO term(s)
- Absent testis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal dominant with reduced penetrance [HPO term]
- Coloboma [HPO term]
- Microphthalmia [HPO term]
- Postaxial polydactyly [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 4 [DO Concept]
- microphthalmia, isolated 4 [MeSH Supplementary Concept]
- microphthalmia, isolated 4 [MeSH concept]

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