| Metadata | |
|---|---|
| ID | DOID:0060832 |
| Name | Griscelli syndrome type 1 |
| Definition | A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2. https://www.ncbi.nlm.nih.gov/pubmed/12452176, https://www.ncbi.nlm.nih.gov/pubmed/9207796 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1254946006 |
| Subsets |
DO_rare_slim |
| Synonyms |
Griscelli syndrome with neurological impairment [EXACT] Griscelli syndrome, cutaneous and neurological type [EXACT] Griscelli-Prunieras syndrome type 1 [EXACT] GS1 [EXACT] hypopigmentation-neurologic impairment syndrome [EXACT] |
| Parent Relationships |
is_a Griscelli syndrome |