has material basis in germline mutation in MYO5A Griscelli syndrome type 1 https://github.com/monarch-initiative/mondo/issues/6748 https://github.com/monarch-initiative/mondo/issues/6752 https://rarediseases.info.nih.gov/diseases/2566/griscelli-syndrome-type-1 https://www.malacards.org/card/griscelli_syndrome_type_1_2 MONDO:0008962 Griscelli-Pruniéras syndrome type 1 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. MESH:C537301 Griscelli-PruniC)ras syndrome type 1 icd11.foundation:875700770 MEDGEN:347092 GARD:0002566 Griscelli syndrome type 1 OMIM:214450 GS1 Orphanet:79476 Griscelli syndrome, type 1 hypopigmentation-neurologic impairment syndrome UMLS:C1859194 pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts DOID:0060832 This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'inflammatory disease' (MONDO:0021166) ontology branch (https://orcid.org/0000-0003-4830-7530, https://orcid.org/0000-0001-9310-0163) Griscelli syndrome hereditary neurological disease