RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Griscelli syndrome
Accession: DOID:0060831
browse the term
Definition: An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. (DO)
Synonyms: exact_synonym: Chediak-Higashi-like syndrome; Chédiak-Higashi-like syndrome; Griscelli disease; Griscelli-Prunieras syndrome; Griscelli-Pruniéras syndrome; partial albinism-immunodeficiency syndrome
xref: GARD:10913 ; OMIM:PS214450 ; ORDO:381
For additional species annotation, visit the
Alliance of Genome Resources .
G
Rab27a
RAB27A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Griscelli syndrome
ClinVar
PMID:10835631 PMID:16551969 PMID:18350256 PMID:19953648 PMID:24033266 PMID:25741868 PMID:26684649 PMID:28492532 More...
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
G
Myo5a
myosin VA
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 1
OMIM ClinVar
PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 PMID:25326635 PMID:25741868 PMID:28492532 PMID:32275080 More...
NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
G
Pigb
phosphatidylinositol glycan anchor biosynthesis, class B
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 2
ClinVar
PMID:10835631 PMID:23160464 PMID:28492532
NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679
G
Rab27a
RAB27A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 2
OMIM ClinVar
PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12531900 PMID:15163896 PMID:15475639 PMID:16278825 PMID:16551969 PMID:17085000 PMID:17576681 PMID:18350256 PMID:18397837 PMID:18403584 PMID:19030707 PMID:19953648 PMID:23160464 PMID:24033266 PMID:24678334 PMID:25071262 PMID:25312756 PMID:25500851 PMID:25544030 PMID:25741868 PMID:26684649 PMID:26880764 PMID:27016801 PMID:27416802 PMID:28353193 PMID:28492532 PMID:28585352 PMID:29357941 PMID:29522846 PMID:30104219 PMID:30290665 PMID:30934652 PMID:31233462 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32860008 More...
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
G
Mlph
melanophilin
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 3
OMIM ClinVar
PMID:12148598 PMID:12897212 PMID:22711375 PMID:25741868 PMID:28492532
NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983
G
Myo5a
myosin VA
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 3
ClinVar
PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056
NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all