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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 4
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Accession:DOID:0111209 term browser browse the term
Definition:A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2. (DO)
Synonyms:exact_synonym: DHMN2C;   HMN IIC;   HMN2C;   HMND4;   distal hereditary motor neuronopathy type 2C;   distal hereditary motor neuronopathy, Harding type IIC;   distal hereditary motor neuronopathy, type IIC;   distal hereditary motor neuropathy, Harding type IIC;   distal hereditary motor neuropathy, autosomal dominant 4;   distal hereditary motor neuropathy, type IIC
 primary_id: OMIM:613376


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autosomal dominant distal hereditary motor neuronopathy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPB3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2C OMIM
ClinVar		 PMID:8972725 PMID:20142617 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 5:59,566,129...59,569,668
Ensembl chr 5:61,190,585...61,191,037 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        neurodegenerative disease 4736
          motor neuron disease 517
            spinal muscular atrophy 151
              autosomal dominant distal hereditary motor neuronopathy 34
                autosomal dominant distal hereditary motor neuronopathy 4 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        peripheral nervous system disease 4039
          neuropathy 3848
            neuromuscular disease 3026
              motor neuron disease 517
                spinal muscular atrophy 151
                  autosomal dominant distal hereditary motor neuronopathy 34
                    autosomal dominant distal hereditary motor neuronopathy 4 1
paths to the root