Griscelli syndrome type 1
http://purl.obolibrary.org/obo/MONDO_0008962
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. [ DOID:0060832 PMID:9207796 PMID:12452176 ]
Term info
- MESH:C537301 (Orphanet:79476/e)
- OMIM:214450 (Orphanet:79476/e)
- UMLS:C1859194 (Orphanet:79476/e)
- DOID:0060832 (MONDO:equivalentTo)
- GARD:0002566 (MONDO:equivalentTo)
- Orphanet:79476 (OMIM:214450)
- ICD10CM:E70.3 (Orphanet:79476/ntbt)
gard_rare, ordo_clinical_subtype
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://omim.org/entry/214450, http://purl.obolibrary.org/obo/DOID_0060832, http://linkedlifedata.com/resource/umls/id/C1859194, http://identifiers.org/mesh/C537301, http://purl.obolibrary.org/obo/Orphanet_79476
Griscelli syndrome, cutaneous and neurological type, Griscelli syndrome type 1, GS1, hypopigmentation-neurologic impairment syndrome, Griscelli-Pruniéras syndrome type 1, Griscelli syndrome with neurological impairment, Griscelli-PruniC)ras syndrome type 1
Griscelli syndrome, cutaneous and neurologic type, Griscelli syndrome, type 1, partial albinism and primary neurologic disease without hemophagocytic syndrome, Griscelli disease type 1, Griscelli syndrome with neurologic impairment, pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts
MONDO:0008962
https://rarediseases.info.nih.gov/diseases/2566/griscelli-syndrome-type-1