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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;   MLPH-RELATED CONDITION
 xref: GARD:9715;   MESH:C537303;   MIM:609227;   MONDO:0012220;   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: MLPH-related condition		 OMIM
CTD
ClinVar		 PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983 		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 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 3 2
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 3 2
paths to the root