Skin/hair/eye pigmentation, variation in, 10

Preferred Label : Skin/hair/eye pigmentation, variation in, 10;

Symbol : SHEP10;

CISMeF acronym : SHEP10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Skin/hair/eye pigmentation 10, blond/brown hair;

Prefixed ID : #612267;

Details

Origin ID

612267;

UMLS CUI

C2677088;

Automatic exact mappings (from CISMeF team)
- TPCN2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Skin-Hair-Eye Pigmentation, Variation In, 10 [MeSH concept]
- Skin-Hair-Eye Pigmentation, Variation In, 10 [MeSH Supplementary Concept]
Genes related to phenotype
- Two-pore segment channel 2 [OMIM gene]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Skin-Hair-Eye Pigmentation, Variation In, 10 [MeSH Supplementary Concept]
- Skin-Hair-Eye Pigmentation, Variation In, 10 [MeSH concept]

Keyword's position in hierarchy(ies) :

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