JSON

syndromic oculocutaneous albinism

^ http://purl.obolibrary.org/obo/MONDO_0017305


A oculocutaneous albinism that is part of a larger syndrome. [ MONDO:patterns/syndromic ]

Term info

database cross reference
  • UMLS:CN227111 (MONDO:equivalentTo)
  • Orphanet:284811 (MONDO:equivalentTo)
  • ICD10CM:E70.3 (Orphanet:284811/ntbt)
Subsets

disease_grouping, ordo_group_of_disorders

definition

A oculocutaneous albinism that is part of a larger syndrome.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN227111, http://purl.obolibrary.org/obo/Orphanet_284811

has exact synonym

syndrome associated with oculocutaneous albinism, syndromic oculocutaneous albinism

id

MONDO:0017305