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:Monomelic Amyotrophy
go back to main search page
Accession:DOID:9007330 term browser browse the term
Synonyms:exact_synonym: Hirayama disease;   juvenile nonprogressive spinal muscular atrophy
 primary_id: MESH:C538253
 alt_id: OMIM:602440
 xref: EFO:1001989


show annotations for term's descendants           Sort by:
Monomelic Amyotrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpp21 cAMP regulated phosphoprotein 21 ISO ClinVar Annotator: match by term: Monomelic amyotrophy ClinVar NCBI chr 8:112,034,636...112,199,273
Ensembl chr 8:112,034,642...112,194,297 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Monomelic amyotrophy ClinVar PMID:28492532 NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961 		JBrowse link
G Slit1 slit guidance ligand 1 ISO ClinVar Annotator: match by term: Monomelic amyotrophy ClinVar NCBI chr 1:240,409,559...240,558,127
Ensembl chr 1:240,409,561...240,558,127 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    Developmental Disease 14384
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13389
        genetic disease 13005
          Nervous System Heredodegenerative Disorders 3263
            childhood spinal muscular atrophy 9
              Monomelic Amyotrophy 3
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        peripheral nervous system disease 4131
          neuropathy 3914
            neuromuscular disease 3064
              motor neuron disease 531
                spinal muscular atrophy 152
                  childhood spinal muscular atrophy 9
                    Monomelic Amyotrophy 3
paths to the root