Albinism, oculocutaneous, type iv

Preferred Label : Albinism, oculocutaneous, type iv;

Symbol : OCA4;

CISMeF acronym : OCA4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oculocutaneous albinism, type iv;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 45, member 2 gene (SLC45A2, 606202.0001);

Prefixed ID : #606574;

Détails

Origin ID

606574;

UMLS CUI

C1847836;

Automatic exact mappings (from CISMeF team)
- Oculocutaneous albinism type 4 [ICD-11 More detail]
- SLC45A2 wt Allele [NCIt concept]
- solute carrier family 45 member 2 [ORDO Gene]
- solute carrier family 45 member 2 [HGNC gene]
Currated CISMeF NLP mapping
- Oculocutaneous albinism type 4 [ORDO Disease]
- Oculocutaneous albinism type 4 (disorder) [SNOMED CT concept]
- oculocutaneous albinism type IV [DO Concept]
- oculocutaneous albinism type IV [Disease (Nov.)]
- oculocutaneous albinism, type IV [MeSH Supplementary Concept]
- oculocutaneous albinism, type IV [MeSH concept]
DO Cross reference
- oculocutaneous albinism type IV [DO Concept]
Genes related to phenotype
- Solute carrier family 45, member 2 [OMIM gene]
HPO term(s)
- Albinism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue irides [HPO term]
- Hypopigmentation of hair [HPO term]
- Hypopigmentation of the fundus [HPO term]
- Macular hypoplasia [HPO term]
- Nystagmus [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Oculocutaneous albinism type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculocutaneous albinism type 4 [ORDO Disease]
- Oculocutaneous albinism type 4 (disorder) [SNOMED CT concept]
- oculocutaneous albinism, type IV [MeSH Supplementary Concept]
- oculocutaneous albinism, type IV [MeSH concept]

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