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isolated anophthalmia-microphthalmia syndrome

^ http://purl.obolibrary.org/obo/MONDO_0016764

Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. [ Orphanet:2542 ]

Term info

database cross reference
  • UMLS:CN202019 (MONDO:equivalentTo)
  • Orphanet:2542 (MONDO:equivalentTo)
  • GARD:0012085 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

definition

Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_2542, http://linkedlifedata.com/resource/umls/id/CN202019

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015217

has exact synonym

nonsyndromic anophthalmia-microphthalmia syndrome, microphthalmia-anophthalmia-coloboma spectrum, MAC spectrum

has related synonym

isolated anophthalmia - microphthalmia, primitive anophthalmia, clinical anophthalmia, isolated pure microphthalmia

id

MONDO:0016764