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isolated cryptophthalmia

^ http://purl.obolibrary.org/obo/MONDO_0007410

Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant. [ Orphanet:91396 ]

Term info

database cross reference
  • UMLS:C1852453 (Orphanet:91396)
  • OMIM:123570 (Orphanet:91396/e)
  • Orphanet:91396 (OMIM:123570)
  • MESH:C565138 (MONDO:equivalentTo)
  • SCTID:718691008 (MONDO:equivalentTo)
  • DOID:0111717 (MONDO:equivalentTo)
Subsets

ordo_morphological_anomaly

definition

Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.

exactMatch

http://purl.obolibrary.org/obo/DOID_0111717, http://identifiers.org/snomedct/718691008, https://omim.org/entry/123570, http://linkedlifedata.com/resource/umls/id/C1852453, http://identifiers.org/mesh/C565138, http://purl.obolibrary.org/obo/Orphanet_91396

has exact synonym

nonsyndromic cryptophthalmia

has related synonym

cryptophthalmos, unilateral or bilateral, isolated, ankyloblepharon, simple, cryptophthalmos with microphthalmia and Peters anomaly

id

MONDO:0007410