microphthalmia, isolated, with coloboma 5

Preferred Label : microphthalmia, isolated, with coloboma 5;

MeSH note : mutation in SHH;

MeSH synonym : MCOPCB5;

Origin ID

C566899;

UMLS CUI

C1968843;

Automatic exact mappings (from CISMeF team)
- SHH wt Allele [NCIt concept]
- sonic hedgehog signaling molecule [ORDO Gene]
Currated CISMeF NLP mapping
- Microphthalmia/coloboma 5 [OMIM Phenotype]
MeSH term(s) associated for indexing
- coloboma [MeSH Descriptor]
- microphthalmos [MeSH Descriptor]
Record concept(s)
- microphthalmia, isolated, with coloboma 5 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microphthalmia/coloboma 5 [OMIM Phenotype]