Search Ontology:
Human Disease
Griscelli syndrome type 3
- Term ID
- DOID:0060834
- Synonyms
-
- Griscelli-Prunieras syndrome type 3
- GS3
- 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. (2)
- References
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- GARD:9715
- MESH:C537303
- MIM:609227
- ORDO:79478
- SNOMEDCT_US_2023_03_01:1254947002
- UMLS_CUI:C1836573
- Ontology
- Human Disease ( DOID:0060834 )
- is a type of
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Genes Involved
Zebrafish Models