JSON

obsolete ocular albinism with congenital sensorineural hearing loss

^ http://purl.obolibrary.org/obo/MONDO_0018138


This term is obsolete


Consider

MONDO:0011749,MONDO:0008671

Term info

database cross reference
  • DOID:0090100 (MONDO:obsoleteEquivalent)
  • OMIM:103470 (Orphanet:352740/e)
  • UMLS:C1863198 (OMIM:103470)
  • Orphanet:352740 (OMIM:103470)
Subsets

ordo_disease

IAO 0000231

out of scope

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/551, https://github.com/monarch-initiative/mondo/issues/4069, https://github.com/monarch-initiative/mondo/issues/4521, https://github.com/monarch-initiative/mondo/issues/4581

consider

MONDO:0011749, MONDO:0008671

exactMatch

https://omim.org/entry/103470, http://purl.obolibrary.org/obo/Orphanet_352740, http://linkedlifedata.com/resource/umls/id/C1863198, http://purl.obolibrary.org/obo/DOID_0090100

has exact synonym

autosomal recessive Waardenburg syndrome type 2 with ocular albinism, digenic Waardenburg syndrome/ocular albinism, WS2-OA, Waardenburg syndrome type 2 with ocular albinism, digenic Waardenburg syndrome/albinism, Waardenburg syndrome/ocular albinism, digenic, Waardenburg syndrome/albinism, digenic

has narrow synonym

ocular albinism with sensorineural deafness, albinism, ocular, with sensorineural deafness, ocular albinism with congenital sensorineural deafness

has related synonym

Waardenburg syndrome, type 2, with ocular albinism, autosomal recessive

id

MONDO:0018138

Term relations

Subclass of: