Albinism, oculocutaneous, type VII

Preferred Label : Albinism, oculocutaneous, type VII;

Symbol : OCA7;

CISMeF acronym : OCA7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromosome 10 open reading frame 11 gene (C10ORF11, 614537.0001);

Prefixed ID : #615179;

Details

Origin ID

615179;

UMLS CUI

C3808786;

Automatic exact mappings (from CISMeF team)
- OCA5 Gene [NCIt concept]
- leucine rich melanocyte differentiation associated [ORDO Gene]
- leucine rich melanocyte differentiation associated [HGNC gene]
Currated CISMeF NLP mapping
- Oculocutaneous albinism type 7 [ORDO Disease]
- oculocutaneous albinism type VII [DO Concept]
DO Cross reference
- oculocutaneous albinism type VII [DO Concept]
Genes related to phenotype
- Leucine-rich melanocyte differentiation-associated protein [OMIM gene]
HPO term(s)
- Albinism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Nystagmus [HPO term]
- Photophobia [HPO term]
ORDO concept(s)
- Oculocutaneous albinism type 7 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculocutaneous albinism type 7 [ORDO Disease]
- Oculocutaneous albinism type 7 (disorder) [SNOMED CT concept]
- oculocutaneous albinism type VII [DO Concept]

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