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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;   MONDO:0011872;   NCI:C111814;   OMIM:607624;   ORDO:79477


show annotations for term's descendants           Sort by:
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 chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292 		JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 8:73,715,383...73,719,849
Ensembl chr 8:73,715,383...73,719,849 		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 chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: Partial albinism and immunodeficiency syndrome		 OMIM
CTD
ClinVar		 PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      primary immunodeficiency disease 4153
        Griscelli syndrome 7
          Griscelli syndrome type 2 5
Path 2
Term Annotations click to browse term
  disease 21126
    Pathological Conditions, Signs and Symptoms 13335
      Signs and Symptoms 10811
        Neurologic Manifestations 10043
          sensory system disease 6948
            Otorhinolaryngologic Diseases 1736
              auditory system disease 993
                Hearing Disorders 820
                  Hearing Loss 815
                    sensorineural hearing loss 625
                      Griscelli syndrome 7
                        Griscelli syndrome type 2 5
paths to the root