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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 9
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Accession:DOID:0111212 term browser browse the term
Definition:An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2. (DO)
Synonyms:exact_synonym: DHMN9;   HMN9;   HMND9;   distal hereditary motor neuronopathy type 9;   distal hereditary motor neuronopathy type IX;   distal hereditary motor neuropathy type IX
 primary_id: OMIM:617721


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autosomal dominant distal hereditary motor neuronopathy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WARS1 tryptophanyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IX | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9		 OMIM
ClinVar		 PMID:25741868 PMID:28369220 PMID:31069783 PMID:31321409 NCBI chr14:100,333,790...100,376,327
Ensembl chr14:100,333,790...100,376,805 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        neurodegenerative disease 6568
          motor neuron disease 631
            spinal muscular atrophy 215
              autosomal dominant distal hereditary motor neuronopathy 62
                autosomal dominant distal hereditary motor neuronopathy 9 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        peripheral nervous system disease 5382
          neuropathy 5129
            neuromuscular disease 4041
              motor neuron disease 631
                spinal muscular atrophy 215
                  autosomal dominant distal hereditary motor neuronopathy 62
                    autosomal dominant distal hereditary motor neuronopathy 9 1
paths to the root