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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:Monomelic Amyotrophy
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Accession:DOID:9007330 term browser browse the term
Synonyms:exact_synonym: Hirayama disease;   juvenile nonprogressive spinal muscular atrophy
 primary_id: MESH:C538253
 alt_id: MIM: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:25741868 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 19102
    Developmental Disease 14601
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          Nervous System Heredodegenerative Disorders 3346
            childhood spinal muscular atrophy 9
              Monomelic Amyotrophy 3
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        peripheral nervous system disease 4274
          neuropathy 4059
            neuromuscular disease 3200
              motor neuron disease 547
                spinal muscular atrophy 153
                  childhood spinal muscular atrophy 9
                    Monomelic Amyotrophy 3
paths to the root