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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 recessive distal hereditary motor neuronopathy 5
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Accession:DOID:0111214 term browser browse the term
Definition:An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35. (DO)
Synonyms:exact_synonym: DSMA5;   HMNR5;   autosomal recessive distal hereditary motor neuropathy 5;   autosomal recessive distal spinal muscular atrophy 5;   autosomal recessive distal spinal muscular atrophy type 5;   distal spinal muscular atrophy type 5;   young adult-onset dHMN;   young adult-onset distal hereditary motor neuropathy
 primary_id: OMIM:614881
 xref: ORDO:314485


show annotations for term's descendants           Sort by:
autosomal recessive distal hereditary motor neuronopathy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22522442 PMID:23806086 More... NCBI chr 1:75,213,039...75,222,336
Ensembl chr 1:75,213,050...75,222,336 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr 1:75,285,209...75,294,648
Ensembl chr 1:75,284,540...75,294,634 		JBrowse link
G LOC107075095 desmin upstream regulatory region ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr 1:75,316,102...75,337,584 JBrowse link
G Ptprn protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr 1:75,223,679...75,241,437
Ensembl chr 1:75,223,671...75,241,146 		JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr 1:75,248,841...75,255,059
Ensembl chr 1:75,248,843...75,255,059 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        neurodegenerative disease 4811
          motor neuron disease 532
            spinal muscular atrophy 155
              autosomal recessive distal hereditary motor neuronopathy 65
                autosomal recessive distal hereditary motor neuronopathy 5 6
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        peripheral nervous system disease 4114
          neuropathy 3914
            neuromuscular disease 3076
              motor neuron disease 532
                spinal muscular atrophy 155
                  autosomal recessive distal hereditary motor neuronopathy 65
                    autosomal recessive distal hereditary motor neuronopathy 5 6
paths to the root