Albinism, oculocutaneous, type V

Preferred Label : Albinism, oculocutaneous, type V;

Symbol : OCA5;

CISMeF acronym : OCA5;

Type : Phenotype or locus, molecular basis unknown;

Description : Oculocutaneous albinism is a genetically heterogeneous disorder manifested as a loss of pigmentation in the eyes, skin, and hair (summary by Kausar et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100).;

Inheritance : Autosomal recessive;

Prefixed ID : %615312;

Details

Origin ID

615312;

UMLS CUI

C3888401;

Automatic exact mappings (from CISMeF team)
- Oculocutaneous albinism type 5 [ORDO Disease]
- oculocutaneous albinism 5 (autosomal recessive) [HGNC gene]
Currated CISMeF NLP mapping
- oculocutaneous albinism type V [DO Concept]
DO Cross reference
- oculocutaneous albinism type V [DO Concept]
HPO term(s)
- Albinism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hypoplasia of the fovea [HPO term]
- Nystagmus [HPO term]
- Photophobia [HPO term]
NCIt concept(s)
- OCA5 Gene [NCIt concept]
ORDO concept(s)
- Oculocutaneous albinism type 5 [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Oculocutaneous albinism type 5 (disorder) [SNOMED CT concept]
- oculocutaneous albinism type V [DO Concept]

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