JSON

isolated congenital hypoglossia/aglossia

^ http://purl.obolibrary.org/obo/MONDO_0013003


Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS). [ Orphanet:141152 ]

Term info

database cross reference
  • OMIM:612776 (Orphanet:141152/e)
  • Orphanet:141152 (OMIM:612776)
  • UMLS:C2748587 (OMIM:612776)
Subsets

ordo_morphological_anomaly

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

definition

Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS).

exactMatch

http://purl.obolibrary.org/obo/Orphanet_141152, http://linkedlifedata.com/resource/umls/id/C2748587, https://omim.org/entry/612776

has related synonym

hypoglossia with situs inversus, hypoglossia, isolated

id

MONDO:0013003

Term relations