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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;   MYO5A-RELATED CONDITION;   Partial albinism and primary neurologic disease without hemophagocytic syndrome;   hypopigmentation-neurologic impairment syndrome
 xref: GARD:2566;   MESH:C537301;   MIM:214450;   MONDO:0008962;   ORDO:79476


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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
ISS		 ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: MYO5A-related condition
CTD Direct Evidence: marker/mechanism
OMIM:214450		 OMIM
ClinVar
CTD
MouseDO		 PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chr 8:84,692,524...84,860,564
Ensembl chr 8:75,812,412...75,975,918 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      primary immunodeficiency disease 4479
        Griscelli syndrome 7
          Griscelli syndrome type 1 1
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Signs and Symptoms 11221
        Neurologic Manifestations 10463
          sensory system disease 7383
            Otorhinolaryngologic Diseases 1799
              auditory system disease 1066
                Hearing Disorders 850
                  Hearing Loss 845
                    sensorineural hearing loss 649
                      Griscelli syndrome 7
                        Griscelli syndrome type 1 1
paths to the root