microphthalmia, isolated, with coloboma 3

Preferred Label : microphthalmia, isolated, with coloboma 3;

MeSH note : mutation in CHX10;

MeSH synonym : MCOPCB3; microphthalmia, colobomatous, isolated 3;

Details

Origin ID

C566447;

UMLS CUI

C1864721;

Currated CISMeF NLP mapping
- Microphthalmia/coloboma 3 [OMIM Phenotype]
MeSH term(s) associated for indexing
- coloboma [MeSH Descriptor]
- microphthalmos [MeSH Descriptor]
Record concept(s)
- microphthalmia, isolated, with coloboma 3 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microphthalmia/coloboma 3 [OMIM Phenotype]

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