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| Term | Griscelli syndrome type 3 | ID (Ontology) | DOID:0060834 (Human Disease) |
| 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. | ||
| Also Known As | "Griscelli-Prunieras syndrome type 3" ; "GS3" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal recessive disease___ integumentary system disease__| Griscelli syndrome |__Griscelli syndrome type 3 |
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| Is a | Griscelli syndrome | ||
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External Crossreferences & Linkouts
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GARD:9715 MESH:C537303 MIM:609227 ORDO:79478 SNOMEDCT_US_2023_03_01:1254947002 UMLS_CUI:C1836573 |
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