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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 ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: MYO5A-related condition OMIM
ClinVar		 PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chrNW_004955409:2,409,503...2,530,539
Ensembl chrNW_004955409:2,428,815...2,530,012 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14338
    syndrome 9847
      primary immunodeficiency disease 3794
        Griscelli syndrome 7
          Griscelli syndrome type 1 1
Path 2
Term Annotations click to browse term
  disease 14338
    Pathological Conditions, Signs and Symptoms 11321
      Signs and Symptoms 9523
        Neurologic Manifestations 9222
          sensory system disease 6564
            Otorhinolaryngologic Diseases 1625
              auditory system disease 963
                Hearing Disorders 759
                  Hearing Loss 754
                    sensorineural hearing loss 568
                      Griscelli syndrome 7
                        Griscelli syndrome type 1 1
paths to the root