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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:autosomal dominant distal hereditary motor neuronopathy 5
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Accession:DOID:0111203 term browser browse the term
Definition:An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. (DO)
Synonyms:exact_synonym: DHMN VA;   DHMN5;   DHMN5A;   DSMAV;   DSMAVA;   Dhmn-V;   Distal Hereditary Motor Neuronopathy, Type V;   Distal Hereditary Motor Neuropathy, Type V;   Distal Spinal Muscular Atrophy, Type V;   HMN 5A;   HMN V;   HMN VA;   HMN5;   HMN5A;   HMND5;   distal HMN V;   distal HMN VA;   distal hereditary motor neuronopathy type 5;   distal hereditary motor neuronopathy type 5A;   distal hereditary motor neuronopathy type VA;   distal hereditary motor neuronopathy, Harding type VA;   distal hereditary motor neuropathy, Harding type VA;   distal hereditary motor neuropathy, type VA;   distal spinal muscular atrophy, Harding type V;   distal spinal muscular atrophy, type VA;   distal spinal muscular atrophy, with upper limb predominance
 primary_id: MESH:C563443
 alt_id: DOID:0111204;   OMIM:600794
 xref: ORDO:139536


show annotations for term's descendants           Sort by:
autosomal dominant distal hereditary motor neuronopathy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A ClinVar PMID:1674639 PMID:5964029 PMID:11479539 PMID:14557463 PMID:14981520 More... NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A		 CTD
OMIM
ClinVar		 PMID:8541851 PMID:9879677 PMID:12690580 PMID:16014653 PMID:16534118 More... NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Pnpo pyridoxamine 5'-phosphate oxidase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A ClinVar PMID:24266778 PMID:24645144 PMID:24658933 PMID:24781210 PMID:25741868 More... NCBI chr10:81,924,584...81,930,844
Ensembl chr10:81,924,569...81,930,871 		JBrowse link
G Reep1 receptor accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        neurodegenerative disease 4906
          motor neuron disease 531
            spinal muscular atrophy 152
              autosomal dominant distal hereditary motor neuronopathy 34
                autosomal dominant distal hereditary motor neuronopathy 5 4
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              motor neuron disease 531
                spinal muscular atrophy 152
                  autosomal dominant distal hereditary motor neuronopathy 34
                    autosomal dominant distal hereditary motor neuronopathy 5 4
paths to the root