albinism, oculocutaneous, type I, Temperature-Sensitive

Preferred Label : albinism, oculocutaneous, type I, Temperature-Sensitive;

MeSH note : mutation in tyrosinase;

MeSH synonym : OCA1TS;

Origin ID

C564645;

UMLS CUI

C1847132;

Automatic exact mappings (from CISMeF team)
- Albinism, oculocutaneous, type ib [OMIM Phenotype]
Currated CISMeF NLP mapping
- Temperature sensitive oculocutaneous albinism [ICD-11 More detail]
- Temperature-sensitive oculocutaneous albinism type 1 [ORDO Disease]
MeSH term(s) associated for indexing
- albinism, oculocutaneous [MeSH Descriptor]
Record concept(s)
- albinism, oculocutaneous, type I, Temperature-Sensitive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Temperature sensitive oculocutaneous albinism [ICD-11 More detail]
- Temperature-sensitive oculocutaneous albinism type 1 [ORDO Disease]