Microphthalmia, isolated, with coloboma 1

Preferred Label : Microphthalmia, isolated, with coloboma 1;

Symbol : MCOPCB1;

CISMeF acronym : MCOPCB1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Microphthalmia, colobomatous, isolated 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;

Details

Origin ID

300345;

UMLS CUI

C1845877;

Broader ORDO disease(s)
- Colobomatous microphthalmia [ORDO Disease]
CISMeF manual mappings
- microphthalmia with coloboma [Disease (Nov.)]
Currated CISMeF NLP mapping
- microphthalmia, isolated, with coloboma 1 [MeSH concept]
- microphthalmia, isolated, with coloboma 1 [MeSH Supplementary Concept]
ORDO concept(s)
- Colobomatous microphthalmia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- microphthalmia with coloboma [Disease (Nov.)]
- microphthalmia, isolated, with coloboma 1 [MeSH Supplementary Concept]
- microphthalmia, isolated, with coloboma 1 [MeSH concept]
Validated automatic mappings to NTBT
- Colobomatous microphthalmia [ORDO Disease]

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