Skin/hair/eye pigmentation, variation in, 6

Preferred Label : Skin/hair/eye pigmentation, variation in, 6;

Symbol : SHEP6;

CISMeF acronym : SHEP6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Skin/hair/eye pigmentation 6, blond/brown hair; Skin/hair/eye pigmentation 6, blue/green eyes;

Inheritance : Autosomal recessive;

Prefixed ID : #210750;

Details

Origin ID

210750;

UMLS CUI

C2673866;

Automatic exact mappings (from CISMeF team)
- SLC24A4 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Skin-Hair-Eye Pigmentation, Variation In, 6 [MeSH concept]
- Skin-Hair-Eye Pigmentation, Variation In, 6 [MeSH Supplementary Concept]
Genes related to phenotype
- Solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 [OMIM gene]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Skin-Hair-Eye Pigmentation, Variation In, 6 [MeSH Supplementary Concept]
- Skin-Hair-Eye Pigmentation, Variation In, 6 [MeSH concept]

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