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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 13
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Accession:DOID:0081401 term browser browse the term
Definition:An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12. (DO)
Synonyms:exact_synonym: DHMN VC;   DHMN5C;   DSMA5C;   DSMAVC;   Distal Hereditary Motor Neuronopathy Type 5C;   HMN5C;   HMND13;   distal hereditary motor neuronopathy type VC;   distal hereditary motor neuronopathy, Harding type VC;   distal hereditary motor neuropathy type VC;   distal hereditary motor neuropathy, Harding type VC;   distal spinal muscular atrophy type 5C;   distal spinal muscular atrophy type VC;   distal spinal muscular atrophy, Harding type VC
 primary_id: OMIM:619112
 alt_id: DOID:9006235


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autosomal dominant distal hereditary motor neuronopathy 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: DHMN VC | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5C | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VC OMIM
ClinVar		 PMID:1674639 PMID:5964029 PMID:11479539 PMID:12362029 PMID:14981520 More... NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14875
      nervous system disease 12962
        neurodegenerative disease 4658
          motor neuron disease 518
            spinal muscular atrophy 154
              autosomal dominant distal hereditary motor neuronopathy 35
                autosomal dominant distal hereditary motor neuronopathy 13 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14875
      nervous system disease 12962
        peripheral nervous system disease 3997
          neuropathy 3806
            neuromuscular disease 2985
              motor neuron disease 518
                spinal muscular atrophy 154
                  autosomal dominant distal hereditary motor neuronopathy 35
                    autosomal dominant distal hereditary motor neuronopathy 13 1
paths to the root