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temperature-sensitive oculocutaneous albinism type 1
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description 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).
Mondo Term and Equivalent IDs
MONDO:0018137: temperature-sensitive oculocutaneous albinism type 1
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:352737
UMLS:C1847132
MONDO:0018137
High level summary of knowledge for a disease, including descriptions and datasource references.