Phenotype Library | Search Phenotypes

Microphthalmia, Isolated, With Coloboma (MONDO:0000170)

A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.

Overview

Category

Ontology ID

Internal:2755

Synonyms

MAC

colobomatous microphthalmia

microphthalmia with colobomatous cyst

microphthalmia-anophthalmia-coloboma syndrome

MCOPCB1

microphthalmia associated with colobomatous cyst

microphthalmos bilateral, colobomatous orbital cyst

Mapped terms

GARD:0003644

MEDGEN:444071

MESH:C537463

OMIMPS:300345

Orphanet:98938

UMLS:C2931500

icd11.foundation:1208828500

Child terms