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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 8
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Accession:DOID:0111215 term browser browse the term
Definition:An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable serverity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11. (DO)
Synonyms:exact_synonym: DHMN8;   HMN8;   HMND8;   autosomal dominant benign distal spinal muscular atrophy;   autosomal dominant congenital benign spinal muscular atrophy;   congenital benign spinal muscular atrophy with contractures;   congenital nonprogressive distal spinal muscular atrophy;   congenital nonprogressive spinal muscular atrophy;   distal hereditary motor neuronopathy type 8;   distal hereditary motor neuronopathy, type VIII;   distal hereditary motor neuropathy, type VIII
 primary_id: MESH:C563981
 alt_id: OMIM:600175


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autosomal dominant distal hereditary motor neuronopathy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR4497 microRNA 4497 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 8 ClinVar NCBI chr12:109,833,348...109,833,436
Ensembl chr12:109,833,348...109,833,436 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP
EXP		 ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 8
ClinVar Annotator: match by term: Autosomal dominant congenital benign spinal muscular atrophy | ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 8
ClinVar Annotator: match by term: Autosomal dominant congenital benign spinal muscular atrophy | ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 8
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant congenital benign spinal muscular atrophy | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 8		 OMIM
ClinVar
CTD		 PMID:4056805 PMID:8179305 PMID:10463355 PMID:15668982 PMID:17879966 More... NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		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 8 2
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 8 2
paths to the root