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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:distal hereditary motor neuronopathy type 5A
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Accession:DOID:0111204 term browser browse the term
Definition:A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3. (DO)
Synonyms:exact_synonym: DHMN VA;   DHMN5A;   DSMAVA;   HMN 5A;   HMN VA;   HMN5A;   distal HMN VA;   distal hereditary motor neuronopathy type VA;   distal hereditary motor neuropathy, type VA;   distal spinal muscular atrophy, type VA
 primary_id: OMIM:600794
For additional species annotation, visit the Alliance of Genome Resources.


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distal hereditary motor neuronopathy type 5A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gars glycyl-tRNA synthetase ISO OMIM NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        neurodegenerative disease 3220
          motor neuron disease 378
            spinal muscular atrophy 126
              autosomal dominant distal hereditary motor neuronopathy 33
                distal hereditary motor neuronopathy type 5 4
                  distal hereditary motor neuronopathy type 5A 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              motor neuron disease 378
                spinal muscular atrophy 126
                  autosomal dominant distal hereditary motor neuronopathy 33
                    distal hereditary motor neuronopathy type 5 4
                      distal hereditary motor neuronopathy type 5A 1
paths to the root