Griscelli syndrome
http://purl.obolibrary.org/obo/MONDO_0018306
Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3). [ Orphanet:381 ]
Term info
- DOID:0060831 (MONDO:equivalentTo)
- Orphanet:381 (MONDO:equivalentTo)
- SCTID:37548006 (MONDO:equivalentTo)
- UMLS:CN204933 (MONDO:equivalentTo)
- GARD:0010913 (MONDO:equivalentTo)
- OMIMPS:214450 (MONDO:equivalentTo)
- ICD9:270.2 (MONDO:relatedTo)
- ICD10CM:E70.3 (Orphanet:381/ntbt)
gard_rare, ordo_disease
Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).
http://identifiers.org/snomedct/37548006, http://purl.obolibrary.org/obo/DOID_0060831, http://linkedlifedata.com/resource/umls/id/CN204933, http://purl.obolibrary.org/obo/Orphanet_381, https://omim.org/phenotypicSeries/PS214450
Griscelli-Pruni��ras syndrome, Griscelli-Pruniéras syndrome, Ch��diak-Higashi-like syndrome, Griscelli-PruniC)ras syndrome, ChC)diak-Higashi-like syndrome, Chédiak-Higashi-like syndrome, partial albinism-immunodeficiency syndrome
Griscelli disease
MONDO:0018306
https://rarediseases.info.nih.gov/diseases/10913/griscelli-syndrome