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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
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Accession:DOID:0060831 term browser 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.

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Griscelli syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli disease ClinVar PMID:10835631 PMID:16551969 PMID:18350256 PMID:19953648 PMID:24033266 PMID:26684649 NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221 		JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 1
ClinVar Annotator: match by OMIM:214450		 OMIM
ClinVar		 PMID:9207796 PMID:10704277 PMID:12058346 PMID:25326635 PMID:25741868 NCBI chr 8:82,038,966...82,156,507
Ensembl chr 8:82,037,977...82,156,617 		JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:607624		 OMIM
ClinVar		 PMID:8319705 PMID:10835631 PMID:12058346 PMID:12531900 PMID:12648328 PMID:15163896 PMID:15475639 PMID:16278825 PMID:18397837 PMID:19030707 PMID:19953648 PMID:23160464 PMID:24033266 PMID:25071262 PMID:25312756 PMID:25500851 PMID:25544030 PMID:25741868 PMID:25901543 PMID:26880764 PMID:27016801 PMID:28492532 PMID:29357941 PMID:29522846 PMID:30697212 PMID:32860008 NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221 		JBrowse link
Griscelli syndrome type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlph melanophilin ISO ClinVar Annotator: match by OMIM:609227
ClinVar Annotator: match by term: Griscelli syndrome type 3		 OMIM
ClinVar		 PMID:12148598 PMID:12897212 NCBI chr 9:98,072,965...98,108,429
Ensembl chr 9:98,073,038...98,108,433 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by null ClinVar PMID:12148598 PMID:12897212 NCBI chr 8:82,038,966...82,156,507
Ensembl chr 8:82,037,977...82,156,617 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      primary immunodeficiency disease 2364
        Griscelli syndrome 3
          Griscelli syndrome type 1 1
          Griscelli syndrome type 2 1
          Griscelli syndrome type 3 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          Otorhinolaryngologic Diseases 1158
            auditory system disease 744
              Hearing Disorders 604
                Hearing Loss 600
                  sensorineural hearing loss 490
                    Griscelli syndrome 3
                      Griscelli syndrome type 1 1
                      Griscelli syndrome type 2 1
                      Griscelli syndrome type 3 2
paths to the root