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   new 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

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:Myelocerebellar Disorder
go back to main search page
Accession:DOID:9000617 term browser browse the term
Synonyms:exact_synonym: ATXPC;   Ataxia-Pancytopenia Syndrome
 primary_id: MESH:C563233;   RDO:0012567
 alt_id: OMIM:159550
 xref: NCI:C176909


show annotations for term's descendants           Sort by:
Myelocerebellar Disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9l sterile alpha motif domain containing 9 like ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome | ClinVar Annotator: match by term: Myelocerebellar disorder		 OMIM
CTD
ClinVar		 PMID:283689 PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 More... NCBI chr 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      hematopoietic system disease 3344
        pancytopenia 27
          Myelocerebellar Disorder 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            movement disease 2576
              Dyskinesias 2190
                Ataxia 957
                  Spinocerebellar Ataxias 547
                    cerebellar ataxia 471
                      Myelocerebellar Disorder 1
paths to the root