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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 1
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Accession:DOID:0060832 term browser browse the term
Definition:A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2. (DO)
Synonyms:exact_synonym: GS1;   Griscelli syndrome with neurologic impairment;   Griscelli syndrome with neurological impairment;   Griscelli syndrome, cutaneous and neurologic type;   Griscelli syndrome, cutaneous and neurological type;   Griscelli-Prunieras syndrome type 1;   Griscelli-Pruniéras syndrome type 1;   Partial albinism and primary neurologic disease without hemophagocytic syndrome;   hypopigmentation-neurologic impairment syndrome
 primary_id: MESH:C537301
 alt_id: OMIM:214450
 xref: GARD:2566;   ORDO:79476
For additional species annotation, visit the Alliance of Genome Resources.


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Griscelli syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5a myosin VA ISO ClinVar Annotator: match by OMIM:214450
ClinVar Annotator: match by term: Griscelli syndrome type 1
OMIM
ClinVar
PMID:9207796, PMID:10704277, PMID:12058346, PMID:25326635, PMID:25741868 NCBI chr 8:82,038,966...82,156,507
Ensembl chr 8:82,037,977...82,156,617
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      primary immunodeficiency disease 2346
        Griscelli syndrome 3
          Griscelli syndrome type 1 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  sensorineural hearing loss 489
                    Griscelli syndrome 3
                      Griscelli syndrome type 1 1
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.