| Metadata | |
|---|---|
| ID | DOID:0060834 |
| Name | Griscelli syndrome type 3 |
| Definition | A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes. https://www.ncbi.nlm.nih.gov/pubmed/12148598, https://www.ncbi.nlm.nih.gov/pubmed/12897212 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1254947002 |
| Subsets |
DO_rare_slim |
| Synonyms |
Griscelli-Prunieras syndrome type 3 [EXACT] GS3 [EXACT] |
| Parent Relationships |
is_a Griscelli syndrome |