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temperature-sensitive oculocutaneous albinism type 1

^ http://purl.obolibrary.org/obo/MONDO_0018137

Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas). [ Orphanet:352737 ]

Term info

database cross reference
  • UMLS:C1847132 (Orphanet:352737)
  • Orphanet:352737 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

definition

Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).

exactMatch

http://purl.obolibrary.org/obo/Orphanet_352737, http://linkedlifedata.com/resource/umls/id/C1847132

has exact synonym

OCA1-TS, TS OCA type 1

id

MONDO:0018137

Term relations