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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 5
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Accession:DOID:0111203 term browser browse the term
Definition:An autosomal dominant distal hereditary motor neuronopathy characterized by muscle weakness and wasting, predominantly confined to the hands, and often exclusively involve thenar and/or interosseus dorsalis I eminences. (DO)
Synonyms:exact_synonym: DHMN5;   DSMAV;   Dhmn-V;   Distal Hereditary Motor Neuronopathy, Type V;   Distal Hereditary Motor Neuropathy, Type V;   Distal Spinal Muscular Atrophy, Type V;   HMN V;   HMN5;   Spinal Muscular Atrophy, Distal, With Upper Limb Predominance;   distal HMN V
 primary_id: MESH:C563443
 xref: ORDO:139536
For additional species annotation, visit the Alliance of Genome Resources.


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distal hereditary motor neuronopathy type 5 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: Distal hereditary motor neuronopathy type 5 ClinVar PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18790819 PMID:19226263 PMID:19396477 PMID:20598714 PMID:20806400 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23553728 PMID:23963299 PMID:23989774 PMID:24345054 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25588603 PMID:25741868 PMID:25832430 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27144933 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:31372974 PMID:31475473 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Gars glycyl-tRNA synthetase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5
CTD
ClinVar
PMID:8541851 PMID:9879677 PMID:12690580 PMID:16014653 PMID:16534118 PMID:16769947 PMID:17595294 PMID:19329989 PMID:25168514 PMID:25476837 PMID:25614874 PMID:25741868 PMID:26392352 PMID:26467025 PMID:27582484 PMID:27790088 PMID:28160950 PMID:28492532 PMID:28594869 PMID:29648643 PMID:31985473 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Pnpo pyridoxamine 5'-phosphate oxidase ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5 ClinVar PMID:24266778 PMID:24645144 PMID:24658933 PMID:24781210 PMID:25741868 PMID:25762494 PMID:28492532 NCBI chr10:84,874,926...84,881,190
Ensembl chr10:84,874,927...84,881,190
JBrowse link
G Reep1 receptor accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
JBrowse link
distal hereditary motor neuronopathy type 5A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gars glycyl-tRNA synthetase ISO OMIM NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
distal hereditary motor neuronopathy type 5B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by OMIM:614751 OMIM
ClinVar
PMID:22703882 NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
JBrowse link
Distal Hereditary Motor Neuronopathy Type 5C 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: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC OMIM
ClinVar
PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18790819 PMID:19396477 PMID:20598714 PMID:20806400 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23553728 PMID:24345054 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25741868 PMID:25832430 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:31372974 PMID:31475473 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
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 5 4
                  Distal Hereditary Motor Neuronopathy Type 5C 1
                  distal hereditary motor neuronopathy type 5A 1
                  distal hereditary motor neuronopathy type 5B 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 5 4
                      Distal Hereditary Motor Neuronopathy Type 5C 1
                      distal hereditary motor neuronopathy type 5A 1
                      distal hereditary motor neuronopathy type 5B 1
paths to the root