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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 type 2
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Accession:DOID:0060833 term browser browse the term
Definition:A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. (DO)
Synonyms:exact_synonym: GS2;   Griscelli syndrome with hemophagocytic syndrome;   Griscelli-Prunieras syndrome type 2;   Griscelli-Pruniéras syndrome type 2;   PAID syndrome;   Partial albinism and immunodeficiency;   hypopigmentation-immunodeficiency with or without neurologic impairment syndrome;   partial albinism and immunodeficiency syndrome;   partial albinism with immunodeficiency
 xref: GARD:4483;   MESH:C537302;   MIM:607624;   MONDO:0011872;   NCI:C111814;   ORDO:79477

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Griscelli syndrome type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chrNW_004936471:16,856,731...16,898,219
Ensembl chrNW_004936471:16,854,171...16,898,269 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chrNW_004936471:16,911,575...16,960,521
Ensembl chrNW_004936471:16,912,155...16,960,468 		JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chrNW_004936471:16,898,378...16,902,346
Ensembl chrNW_004936471:16,898,324...16,902,677 		JBrowse link
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 chrNW_004936471:16,828,910...16,857,140
Ensembl chrNW_004936471:16,829,159...16,861,536 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: PAID SYNDROME | ClinVar Annotator: match by term: PARTIAL ALBINISM AND IMMUNODEFICIENCY SYNDROME OMIM
ClinVar		 PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chrNW_004936471:16,738,204...16,815,561
Ensembl chrNW_004936471:16,738,230...16,815,943 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    syndrome 10016
      primary immunodeficiency disease 3860
        Griscelli syndrome 7
          Griscelli syndrome type 2 5
Path 2
Term Annotations click to browse term
  disease 14638
    Pathological Conditions, Signs and Symptoms 11559
      Signs and Symptoms 9742
        Neurologic Manifestations 9433
          sensory system disease 6692
            Otorhinolaryngologic Diseases 1652
              auditory system disease 969
                Hearing Disorders 761
                  Hearing Loss 756
                    sensorineural hearing loss 571
                      Griscelli syndrome 7
                        Griscelli syndrome type 2 5
paths to the root