Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
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_004624731:8,114,557...8,280,586
Ensembl chrNW_004624731:8,113,715...8,280,823 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14231
    syndrome 9754
      primary immunodeficiency disease 3753
        Griscelli syndrome 7
          Griscelli syndrome type 1 1
Path 2
Term Annotations click to browse term
  disease 14231
    Pathological Conditions, Signs and Symptoms 11249
      Signs and Symptoms 9474
        Neurologic Manifestations 9181
          sensory system disease 6541
            Otorhinolaryngologic Diseases 1623
              auditory system disease 955
                Hearing Disorders 753
                  Hearing Loss 748
                    sensorineural hearing loss 564
                      Griscelli syndrome 7
                        Griscelli syndrome type 1 1
paths to the root