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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


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 IAGP ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr15:55,355,239...55,408,359
Ensembl chr15:55,340,032...55,408,510 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234 		JBrowse link
G PIERCE2 piercer of microtubule wall 2 IAGP ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr15:55,408,495...55,418,798
Ensembl chr15:55,408,495...55,418,798 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B IAGP ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:10835631 PMID:23160464 PMID:28492532 NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family IAGP
EXP		 ClinVar Annotator: match by term: PAID SYNDROME
ClinVar Annotator: match by term: Griscelli syndrome type 2
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 147117
    syndrome 38797
      primary immunodeficiency disease 17494
        Griscelli syndrome 10
          Griscelli syndrome type 2 5
Path 2
Term Annotations click to browse term
  disease 147117
    Pathological Conditions, Signs and Symptoms 69499
      Signs and Symptoms 45573
        Neurologic Manifestations 37918
          sensory system disease 26694
            Otorhinolaryngologic Diseases 4244
              auditory system disease 2153
                Hearing Disorders 1742
                  Hearing Loss 1736
                    sensorineural hearing loss 1218
                      Griscelli syndrome 10
                        Griscelli syndrome type 2 5
paths to the root