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loading...| Preferred Name |
Griscelli syndrome type 3 |
| Synonyms |
Griscelli-Prunieras syndrome type 3 |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0060834 |
| database_cross_reference |
OMIM:609227 GARD:9715 UMLS_CUI:C1836573 MESH:C537303 ORDO:79478 |
| 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. |
| has exact synonym |
Griscelli-Prunieras syndrome type 3 GS3 |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0060834 |
| in_subset | |
| label |
Griscelli syndrome type 3 |
| notation |
DOID:0060834 |
| prefLabel |
Griscelli syndrome type 3 |
| subClassOf |
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