Preferred Label : Microphthalmia/coloboma 1;
Symbol : MCOPCB1;
CISMeF acronym : MCOPCB1;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Microphthalmia, colobomatous, 1;
Description : Ocular coloboma is a developmental defect of the eye resulting from abnormal or incomplete
fusion of the optic fissure. The defect can be unilateral or bilateral and can involve
the cornea, iris, ciliary body, lens, choroid, retina, and/or optic nerves. Clinically,
coloboma is often associated with microphthalmia or clinical anophthalmia and can
occur as part of complex malformation syndromes (summary by Wang et al., 2012). -
Genetic Heterogeneity of Isolated Microphthalmia With Coloboma Isolated colobomatous
microphthalmia-1 (MCOPCB1) has been mapped to the X chromosome. MCOPCB2 (605738) has
been mapped to chromosome 15q12-q15.;
Prefixed ID : %300345;
Origin ID : 300345;
UMLS CUI : C1845877;
Broader ORDO disease(s)
- CISMeF manual mappings
- Currated CISMeF NLP mapping
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
