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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 3
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Accession:DOID:0060834 term browser browse the term
Definition:A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes. (DO)
Synonyms:exact_synonym: GS3;   Griscelli-Prunieras syndrome type 3;   Griscelli-Pruniéras syndrome type 3;   Hypomelanosis with no immunologic or neurologic manifestations
 primary_id: MESH:C537303
 alt_id: OMIM:609227
 xref: GARD:9715;   ORDO:79478


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Griscelli syndrome type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlph melanophilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Griscelli syndrome type 3 | ClinVar Annotator: match by term: Hypomelanosis with no immunologic or neurologic manifestations		 OMIM
CTD
ClinVar		 PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... NCBI chr 1:90,842,750...90,878,864
Ensembl chr 1:90,842,807...90,878,864 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 ClinVar PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056 NCBI chr 9:74,975,183...75,130,970
Ensembl chr 9:74,978,297...75,130,970 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    syndrome 10334
      primary immunodeficiency disease 3853
        Griscelli syndrome 7
          Griscelli syndrome type 3 2
Path 2
Term Annotations click to browse term
  disease 18300
    Pathological Conditions, Signs and Symptoms 12356
      Signs and Symptoms 10134
        Neurologic Manifestations 9788
          sensory system disease 6744
            Otorhinolaryngologic Diseases 1731
              auditory system disease 986
                Hearing Disorders 813
                  Hearing Loss 808
                    sensorineural hearing loss 617
                      Griscelli syndrome 7
                        Griscelli syndrome type 3 2
paths to the root