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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
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Accession:DOID:0111198 term browser browse the term
Definition:A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance. (DO)
Synonyms:exact_synonym: autosomal dominant dHMN;   autosomal dominant distal hereditary motor neuropathy;   autosomal dominant distal spinal muscular atrophy
 xref: OMIM:PS182960;   ORDO:140465


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autosomal dominant distal hereditary motor neuronopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 More... NCBI chrNW_004955515:5,060,176...5,105,298
Ensembl chrNW_004955515:5,061,005...5,103,179
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:12730604 PMID:20697106 PMID:21102439 PMID:22459677 PMID:23664120 More... NCBI chrNW_004955538:1,388,595...1,458,166
Ensembl chrNW_004955538:1,390,137...1,458,025
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar NCBI chrNW_004955411:3,135,752...3,217,891 JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:17101916 PMID:20301420 PMID:22462675 PMID:25168514 NCBI chrNW_004955410:31,778,654...31,819,287
Ensembl chrNW_004955410:31,779,543...31,819,113
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:2545169 PMID:11528396 PMID:14681881 PMID:15108294 PMID:15797190 More... NCBI chrNW_004955422:17,017,855...17,047,724
Ensembl chrNW_004955422:17,017,358...17,048,650
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:18585512 PMID:18926329 PMID:25741868 PMID:25886484 PMID:28152038 More... NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:26659848 PMID:28492532 PMID:31475037 NCBI chrNW_004955455:5,124,737...5,164,495
Ensembl chrNW_004955455:5,124,737...5,164,495
JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:19696032 PMID:22088787 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021
JBrowse link
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant ClinVar PMID:1520078 PMID:8179305 PMID:10463355 PMID:15668982 PMID:20037586 More... NCBI chrNW_004955455:8,744,865...8,781,644
Ensembl chrNW_004955455:8,744,176...8,783,741
JBrowse link
autosomal dominant distal hereditary motor neuronopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 1 ClinVar PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 PMID:28492532 NCBI chrNW_004955422:17,017,855...17,047,724
Ensembl chrNW_004955422:17,017,358...17,048,650
JBrowse link
autosomal dominant distal hereditary motor neuronopathy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emilin1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 10 OMIM
ClinVar
PMID:26462740 PMID:31978608 NCBI chrNW_004955469:9,049,666...9,057,692
Ensembl chrNW_004955469:9,049,662...9,057,684
JBrowse link
autosomal dominant distal hereditary motor neuronopathy 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, 11, autosomal dominant OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31332438 PMID:33206935 PMID:33578420 NCBI chrNW_004955570:1,016,510...1,076,499
Ensembl chrNW_004955570:1,016,510...1,076,499
JBrowse link
autosomal dominant distal hereditary motor neuronopathy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B ClinVar PMID:24002164 PMID:28492532 NCBI chrNW_004955515:5,060,176...5,105,298
Ensembl chrNW_004955515:5,061,005...5,103,179
JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B OMIM
ClinVar
PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 PMID:20718791 More... NCBI chrNW_004955424:1,369,490...1,425,611
Ensembl chrNW_004955424:1,369,490...1,425,605
JBrowse link
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 chrNW_004955599:505,725...514,225
Ensembl chrNW_004955599:507,501...514,151
JBrowse link
autosomal dominant distal hereditary motor neuronopathy 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B ClinVar
OMIM
PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 More... NCBI chrNW_004955424:11,362,240...11,413,140
Ensembl chrNW_004955424:11,392,812...11,413,140
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chrNW_004955538:1,388,595...1,458,166
Ensembl chrNW_004955538:1,390,137...1,458,025
JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chrNW_004955410:31,778,654...31,819,287
Ensembl chrNW_004955410:31,779,543...31,819,113
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16199547 PMID:16714318 PMID:18425620 PMID:21715711 PMID:22206013 More... NCBI chrNW_004955486:1,937,873...1,962,577
Ensembl chrNW_004955486:1,937,802...1,962,772
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:7693129 PMID:20571287 PMID:25694466 PMID:28492532 NCBI chrNW_004955468:13,041,911...13,047,026
Ensembl chrNW_004955468:13,041,011...13,047,284
JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026
JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16728649 PMID:17564964 NCBI chrNW_004955486:6,099,654...6,121,805
Ensembl chrNW_004955486:6,107,024...6,121,356
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24776970 PMID:25741868 PMID:28492532 NCBI chrNW_004955427:24,917,709...25,109,499
Ensembl chrNW_004955427:24,989,615...25,109,550
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24533459 NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:26467025 PMID:28492532 NCBI chrNW_004955415:5,286,475...5,354,880
Ensembl chrNW_004955415:5,303,311...5,355,672
JBrowse link
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:20037586 PMID:20037587 PMID:20037588 PMID:20460441 PMID:21336783 More... NCBI chrNW_004955455:8,744,865...8,781,644
Ensembl chrNW_004955455:8,744,176...8,783,741
JBrowse link
autosomal dominant distal hereditary motor neuronopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:7723957 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24207122 More... NCBI chrNW_004955415:5,841,269...5,888,830
Ensembl chrNW_004955415:5,841,038...5,889,110
JBrowse link
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A OMIM
ClinVar
PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 More... NCBI chrNW_004955455:12,290,884...12,304,588
Ensembl chrNW_004955455:12,290,587...12,304,656
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 PMID:10835936 More... NCBI chrNW_004955468:13,041,911...13,047,026
Ensembl chrNW_004955468:13,041,011...13,047,284
JBrowse link
autosomal dominant distal hereditary motor neuronopathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B OMIM
ClinVar
PMID:9536098 PMID:11528513 PMID:15122254 PMID:16087758 PMID:16155736 More... NCBI chrNW_004955844:8,094...9,565
Ensembl chrNW_004955844:7,790...10,004
JBrowse link
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 chrNW_004955446:13,113,854...13,114,599
Ensembl chrNW_004955446:13,113,984...13,114,442
JBrowse link
autosomal dominant distal hereditary motor neuronopathy 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: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A ClinVar PMID:1674639 PMID:5964029 PMID:11479539 PMID:14557463 PMID:14981520 More... NCBI chrNW_004955599:505,725...514,225
Ensembl chrNW_004955599:507,501...514,151
JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A OMIM
ClinVar
PMID:8541851 PMID:9879677 PMID:12690580 PMID:16014653 PMID:16534118 More... NCBI chrNW_004955410:31,778,654...31,819,287
Ensembl chrNW_004955410:31,779,543...31,819,113
JBrowse link
G Pnpo pyridoxamine 5'-phosphate oxidase ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A ClinVar PMID:24266778 PMID:24645144 PMID:24658933 PMID:24781210 PMID:25741868 More... NCBI chrNW_004955451:13,184,861...13,190,933
Ensembl chrNW_004955451:13,183,826...13,191,707
JBrowse link
G Reep1 receptor accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955424:1,369,490...1,425,611
Ensembl chrNW_004955424:1,369,490...1,425,605
JBrowse link
autosomal dominant distal hereditary motor neuronopathy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: FBXO38-related condition | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2D OMIM
ClinVar
PMID:7723957 PMID:24207122 PMID:25741868 PMID:28492532 PMID:31420593 More... NCBI chrNW_004955415:5,841,269...5,888,830
Ensembl chrNW_004955415:5,841,038...5,889,110
JBrowse link
autosomal dominant distal hereditary motor neuronopathy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chrNW_004955470:12,249,279...12,305,099
Ensembl chrNW_004955470:12,251,682...12,305,973
JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chrNW_004955470:12,310,680...12,362,555
Ensembl chrNW_004955470:12,309,048...12,362,570
JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chrNW_004955470:12,011,606...12,053,625
Ensembl chrNW_004955470:12,011,708...12,055,907
JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chrNW_004955470:12,142,997...12,158,273 JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chrNW_004955470:12,180,426...12,247,737
Ensembl chrNW_004955470:12,180,544...12,249,555
JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A OMIM
ClinVar
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955470:11,673,491...11,694,404
Ensembl chrNW_004955470:11,673,465...11,697,163
JBrowse link
autosomal dominant distal hereditary motor neuronopathy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO 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 OMIM
ClinVar
PMID:4056805 PMID:8179305 PMID:10463355 PMID:15668982 PMID:17879966 More... NCBI chrNW_004955455:8,744,865...8,781,644
Ensembl chrNW_004955455:8,744,176...8,783,741
JBrowse link
autosomal dominant distal hereditary motor neuronopathy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wars1 tryptophanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9 OMIM
ClinVar
PMID:25741868 PMID:28369220 PMID:31069783 PMID:31321409 NCBI chrNW_004955438:21,414,878...21,445,417
Ensembl chrNW_004955438:21,414,815...21,445,042
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13809
      nervous system disease 12068
        neurodegenerative disease 4380
          motor neuron disease 485
            spinal muscular atrophy 142
              autosomal dominant distal hereditary motor neuronopathy 32
                autosomal dominant distal hereditary motor neuronopathy 1 1
                autosomal dominant distal hereditary motor neuronopathy 10 1
                autosomal dominant distal hereditary motor neuronopathy 11 1
                autosomal dominant distal hereditary motor neuronopathy 12 2
                autosomal dominant distal hereditary motor neuronopathy 13 1
                autosomal dominant distal hereditary motor neuronopathy 14 11
                autosomal dominant distal hereditary motor neuronopathy 2 3
                autosomal dominant distal hereditary motor neuronopathy 3 1
                autosomal dominant distal hereditary motor neuronopathy 4 1
                autosomal dominant distal hereditary motor neuronopathy 5 4
                autosomal dominant distal hereditary motor neuronopathy 6 1
                autosomal dominant distal hereditary motor neuronopathy 7 6
                autosomal dominant distal hereditary motor neuronopathy 8 1
                autosomal dominant distal hereditary motor neuronopathy 9 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13809
      nervous system disease 12068
        peripheral nervous system disease 3809
          neuropathy 3628
            neuromuscular disease 2837
              motor neuron disease 485
                spinal muscular atrophy 142
                  autosomal dominant distal hereditary motor neuronopathy 32
                    autosomal dominant distal hereditary motor neuronopathy 1 1
                    autosomal dominant distal hereditary motor neuronopathy 10 1
                    autosomal dominant distal hereditary motor neuronopathy 11 1
                    autosomal dominant distal hereditary motor neuronopathy 12 2
                    autosomal dominant distal hereditary motor neuronopathy 13 1
                    autosomal dominant distal hereditary motor neuronopathy 14 11
                    autosomal dominant distal hereditary motor neuronopathy 2 3
                    autosomal dominant distal hereditary motor neuronopathy 3 1
                    autosomal dominant distal hereditary motor neuronopathy 4 1
                    autosomal dominant distal hereditary motor neuronopathy 5 4
                    autosomal dominant distal hereditary motor neuronopathy 6 1
                    autosomal dominant distal hereditary motor neuronopathy 7 6
                    autosomal dominant distal hereditary motor neuronopathy 8 1
                    autosomal dominant distal hereditary motor neuronopathy 9 1
paths to the root