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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