Skin/hair/eye pigmentation, variation in, 5

Preferred Label : Skin/hair/eye pigmentation, variation in, 5;

Symbol : SHEP5;

CISMeF acronym : SHEP5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Skin/hair/eye pigmentation 5, dark/light eyes; Skin/hair/eye pigmentation 5, dark/fair skin; Skin/hair/eye pigmentation 5, black/nonblack hair;

Inheritance : Autosomal recessive at GEY locus; Eye color probably polygenic;

Prefixed ID : #227240;

Details

Origin ID

227240;

UMLS CUI

C2673584;

Automatic exact mappings (from CISMeF team)
- SLC45A2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Skin-Hair-Eye Pigmentation, Variation In, 5 [MeSH concept]
- Skin-Hair-Eye Pigmentation, Variation In, 5 [MeSH Supplementary Concept]
Genes related to phenotype
- Solute carrier family 45, member 2 [OMIM gene]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Skin-Hair-Eye Pigmentation, Variation In, 5 [MeSH Supplementary Concept]
- Skin-Hair-Eye Pigmentation, Variation In, 5 [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients