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microphthalmia with limb anomalies

^ http://purl.obolibrary.org/obo/MONDO_0008800

Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly. [ Orphanet:1106 ]

Term info

database cross reference
  • GARD:0000722 (MONDO:equivalentTo)
  • MESH:C537769 (MONDO:equivalentTo)
  • Orphanet:1106 (OMIM:206920)
  • DOID:0060861 (MONDO:equivalentTo)
  • ICD9:755.8 (MONDO:relatedTo)
  • SCTID:703403003 (MONDO:equivalentTo)
  • OMIM:206920 (Orphanet:1106/e)
Subsets

ordo_malformation_syndrome

abbreviation
MLA [ DOID:0060861 OMIM:206920 MONDO:Lexical ]

abbreviation
OAS [ DOID:0060861 Orphanet:1106 ]

definition

Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.

exactMatch

http://purl.obolibrary.org/obo/DOID_0060861, http://purl.obolibrary.org/obo/Orphanet_1106, http://identifiers.org/mesh/C537769, http://identifiers.org/snomedct/703403003, https://omim.org/entry/206920

has exact synonym

OAS, Waardenburg anophthalmia syndrome, ophthalmoacromelic syndrome, MLA, microphthalmia with limb anomalies, Ophthalmoacromelic syndrome, anophthalmia-syndactyly syndrome

has related synonym

anophthalmia-syndactyly, anophthalmos-syndactyly, anophthalmos with limb anomalies, anophthalmia Waardenburg syndrome

id

MONDO:0008800