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ONTOLOGY REPORT - ANNOTATIONS


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-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
 primary_id: MESH:C537302
 alt_id: OMIM:607624;   RDO:0003121
 xref: GARD:4483;   NCI:C111814;   ORDO:79477
For additional species annotation, visit the Alliance of Genome Resources.


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Griscelli syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      primary immunodeficiency disease 957
        Griscelli syndrome 3
          Griscelli syndrome type 2 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          Otorhinolaryngologic Diseases 1078
            auditory system disease 686
              Hearing Disorders 570
                Hearing Loss 566
                  sensorineural hearing loss 459
                    Griscelli syndrome 3
                      Griscelli syndrome type 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.