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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 8
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Accession:DOID:0111215 term browser browse the term
Definition:A autosomal dominant distal hereditary motor neuronopathy characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable serverity that has_material_basis_in heterozygous mutation in TRPV4 on 12q24.11. (DO)
Synonyms:exact_synonym: DHMN8;   HMN8;   NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII;   Spinal Muscular Atrophy, Congenital Benign, with Contractures;   Spinal Muscular Atrophy, Distal, Congenital Nonprogressive;   autosomal dominant benign distal spinal muscular atrophy;   autosomal dominant congenital benign spinal muscular atrophy;   congenital nonprogressive spinal muscular atrophy;   distal hereditary motor neuronopathy, type VIII
 primary_id: MESH:C563981
 alt_id: OMIM:600175;   RDO:0013090
For additional species annotation, visit the Alliance of Genome Resources.

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distal hereditary motor neuronopathy type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII
ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4056805 PMID:8179305 PMID:10463355 PMID:15668982 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21115951 PMID:21288981 PMID:21336783 PMID:21454511 PMID:22065612 PMID:22291064 PMID:22419508 PMID:22526352 PMID:22675077 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26048687 PMID:26110311 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27549087 PMID:27751652 PMID:28492532 PMID:28898540 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902 		JBrowse link
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 8 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 8 1
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