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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 LOC130057087 ATAC-STARR-seq lymphoblastoid active region 9427 IAGP ClinVar Annotator: match by term: MYO5A-related condition ClinVar PMID:28492532 NCBI chr15:52,379,319...52,379,708 JBrowse link
G LOC130057090 ATAC-STARR-seq lymphoblastoid silent region 6447 IAGP ClinVar Annotator: match by term: MYO5A-related condition ClinVar PMID:28492532 NCBI chr15:52,528,530...52,529,409 JBrowse link
G MYO5A myosin VA IAGP
EXP
ISS		 ClinVar Annotator: match by term: Griscelli syndrome type 1
ClinVar Annotator: match by term: MYO5A-related condition
ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: MYO5A-related condition
CTD Direct Evidence: marker/mechanism
OMIM:214450		 ClinVar
OMIM
CTD
MouseDO		 PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 145369
    syndrome 38717
      primary immunodeficiency disease 17469
        Griscelli syndrome 10
          Griscelli syndrome type 1 3
Path 2
Term Annotations click to browse term
  disease 145369
    Pathological Conditions, Signs and Symptoms 69045
      Signs and Symptoms 45355
        Neurologic Manifestations 37765
          sensory system disease 26548
            Otorhinolaryngologic Diseases 4206
              auditory system disease 2118
                Hearing Disorders 1707
                  Hearing Loss 1701
                    sensorineural hearing loss 1183
                      Griscelli syndrome 10
                        Griscelli syndrome type 1 3
paths to the root