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microphthalmia, isolated, with coloboma

^ http://purl.obolibrary.org/obo/MONDO_0000170

A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. [ Orphanet:98938 ]

Term info

database cross reference
  • OMIMPS:300345 (MONDO:equivalentTo)
  • GARD:0003644 (MONDO:equivalentTo)
  • MESH:C537463 (MONDO:equivalentTo)
  • Orphanet:98938 (OMIM:300345)
  • UMLS:CN228419 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
MCOPCB1 [ OMIM:300345 MONDO:Lexical ]

abbreviation
MAC [ Orphanet:98938 ]

definition

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

exactMatch

https://omim.org/phenotypicSeries/PS300345, http://linkedlifedata.com/resource/umls/id/CN228419, http://purl.obolibrary.org/obo/Orphanet_98938, http://identifiers.org/mesh/C537463

has exact synonym

microphthalmia with colobomatous cyst, microphthalmia-anophthalmia-coloboma syndrome, colobomatous microphthalmia, MAC

has related synonym

microphthalmos bilateral, colobomatous orbital cyst, microphthalmia associated with colobomatous cyst, MCOPCB1

id

MONDO:0000170

seeAlso

https://rarediseases.info.nih.gov/diseases/3644/microphthalmia-associated-with-colobomatous-cyst