ONTOLOGY REPORT - ANNOTATIONS


Term:Griscelli syndrome
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Accession:DOID:0060831 term browser browse the term
Definition:An autosomal recessive disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. (DO)
Synonyms:exact_synonym: Chédiak-Higashi-like syndrome;   Griscelli Disease;   Griscelli-Pruniéras syndrome;   partial albinism-immunodeficiency syndrome
 primary_id: RDO:9001310
 xref: GARD:10913;   OMIM:PS214450;   ORDO:381
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Griscelli syndrome 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:8554872
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo5a myosin VA JBrowse link 8 82,038,966 82,156,507 RGD:7240710
RGD:8554872
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
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlph melanophilin JBrowse link 9 98,072,965 98,108,429 RGD:7240710
RGD:8554872
G Myo5a myosin VA JBrowse link 8 82,038,966 82,156,507 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      primary immunodeficiency disease 930
        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 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          Otorhinolaryngologic Diseases 1038
            auditory system disease 662
              Hearing Disorders 551
                Hearing Loss 547
                  sensorineural hearing loss 428
                    Griscelli syndrome 3
                      Griscelli syndrome type 1 1
                      Griscelli syndrome type 2 1
                      Griscelli syndrome type 3 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.