Albinism, oculocutaneous, type III

Preferred Label : Albinism, oculocutaneous, type III;

Symbol : OCA3;

CISMeF acronym : OCA3; ROCA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Albinism III; XANTHISM; Oculocutaneous albinism, type III; Rufous oculocutaneous albinism; ROCA;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tyrosinase-related protein 1 gene (TYRP1, 115501.0001);

Laboratory abnormalities : Normal tyrosinase;

Prefixed ID : #203290;

Détails

Origin ID

203290;

UMLS CUI

C0342683;

Automatic exact mappings (from CISMeF team)
- TYRP1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Oculocutaneous albinism [ORDO Disease]
Currated CISMeF NLP mapping
- Oculocutaneous albinism type 3 [ICD-11 More detail]
- Oculocutaneous albinism type 3 [ORDO Disease]
- Rufous albinism (disorder) [SNOMED CT concept]
- Rufous oculocutaneous albinism [MeSH concept]
- oculocutaneous albinism type III [Disease (Nov.)]
- oculocutaneous albinism type III [DO Concept]
- rufous albinism [SNOMED Notion]
- rufous oculocutaneous albinism [MeSH Supplementary Concept]
DO Cross reference
- oculocutaneous albinism type III [DO Concept]
Genes related to phenotype
- Tyrosinase-related protein 1 [OMIM gene]
HPO term(s)
- Albinism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Nystagmus [HPO term]
- Partial albinism [HPO term]
- Red hair [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Oculocutaneous albinism type 3 [ORDO Disease]
See also inter- (CISMeF)
- tyrosinase related protein 1 [ORDO Gene]
- tyrosinase related protein 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rufous albinism (disorder) [SNOMED CT concept]
- Rufous oculocutaneous albinism [MeSH concept]
- rufous albinism [SNOMED Notion]
- rufous oculocutaneous albinism [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Albinism [PASCAL descriptor]
- Albinism [NCIt concept]
- albinism [MeSH Descriptor]
- albinism [MeSH concept]

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