Disease #00478 (SHEP1 (pigmentation, hair, blond/brown - eyes, blue/non-blue, type 1 (SHEP-1, skin/hair/eye pigmentation)), OMIM:227220)

Official abbreviation SHEP1
Name pigmentation, hair, blond/brown - eyes, blue/non-blue, type 1 (SHEP-1, skin/hair/eye pigmentation)
OMIM ID 227220
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease -
Phenotype entries for this disease -
Associated with 2 genes HERC2, OCA2
Associated tissues -
Disease features -
Remarks -
Date created 2014-07-24 21:52:52 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)

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