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alar cartilages hypoplasia-coloboma-telecanthus syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008744

Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. [ Orphanet:2007 ]

Term info

database cross reference
  • Orphanet:2007 (OMIM:203000)
  • OMIM:203000 (Orphanet:2007/e)
  • UMLS:C1859964 (Orphanet:2007/e)
  • MESH:C535967 (MONDO:equivalentTo)
  • GARD:0000588 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

definition

Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1859964, http://purl.obolibrary.org/obo/Orphanet_2007, http://identifiers.org/mesh/C535967, https://omim.org/entry/203000

has related synonym

frontonasal dysplasia with alar clefts, alar-nasal cartilages, coloboma of, with telecanthus, coloboma of alar-nasal cartilages with telecanthus

id

MONDO:0008744