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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 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: ORDO:140465
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
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: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 PMID:24336790 PMID:25497877 PMID:25741868 PMID:26467025 PMID:27549087 PMID:27784775 PMID:28251916 PMID:28492532 PMID:28832565 PMID:32581362 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:12730604 PMID:20697106 PMID:21102439 PMID:22459677 PMID:25326635 PMID:25609763 PMID:25741868 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769 		JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738 		JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:17101916 PMID:22462675 PMID:25168514 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044 		JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:11528396 PMID:14681881 PMID:15108294 PMID:15797190 PMID:17431882 PMID:18802676 PMID:19157874 PMID:19158098 PMID:22157136 PMID:23449687 PMID:23566544 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24342282 PMID:24388491 PMID:25439726 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26467025 PMID:26709713 PMID:27450922 PMID:28492532 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:25886484 PMID:28492532 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516 		JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:26659848 PMID:28492532 NCBI chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522 		JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:19696032 PMID:22088787 PMID:26467025 PMID:28492532 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539 		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 PMID:1520078 PMID:8179305 PMID:10463355 PMID:15668982 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21115951 PMID:21288981 PMID:21454511 PMID:22065612 PMID:22291064 PMID:22526352 PMID:22702953 PMID:24319099 PMID:24789864 PMID:25741868 PMID:26048687 PMID:26467025 PMID:26948711 PMID:28492532 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902 		JBrowse link
distal hereditary motor neuronopathy type 1 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: Distal hereditary motor neuronopathy ClinVar NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy ClinVar NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049 		JBrowse link
G Hspb3 heat shock protein family B (small) member 3 ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy ClinVar NCBI chr 2:45,517,788...45,518,502
Ensembl chr 2:45,517,789...45,518,502 		JBrowse link
distal hereditary motor neuronopathy type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 2A
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, ADULT, AUTOSOMAL DOMINANT, IIA
ClinVar Annotator: match by OMIM:158590		 OMIM
ClinVar		 PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 PMID:25741868 PMID:26467025 PMID:26718575 PMID:26986878 PMID:28251916 PMID:28492532 NCBI chr12:45,905,371...45,920,014
Ensembl chr12:45,905,371...45,920,013 		JBrowse link
distal hereditary motor neuronopathy type 2C 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: Distal hereditary motor neuronopathy type 2C
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC		 OMIM
ClinVar		 PMID:20142617 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:45,517,788...45,518,502
Ensembl chr 2:45,517,789...45,518,502 		JBrowse link
distal hereditary motor neuronopathy type 2D 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 neuronopathy 2D
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL DOMINANT, CALF-PREDOMINANT		 OMIM
ClinVar		 PMID:7723957 PMID:24207122 PMID:25741868 PMID:28492532 NCBI chr18:57,827,391...57,874,515
Ensembl chr18:57,827,392...57,866,741 		JBrowse link
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
distal hereditary motor neuronopathy type 7A 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 viia ClinVar PMID:28492532 NCBI chr20:28,076,784...28,158,053
Ensembl chr20:28,078,500...28,157,071 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:27,832,960...27,879,764
Ensembl chr20:27,832,932...27,879,759 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:27,895,981...28,004,767
Ensembl chr20:27,954,433...28,002,082 		JBrowse link
G LOC100910235 sulfotransferase 1C1-like ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,323,997...4,328,175
Ensembl chr 9:4,324,211...4,327,679 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
ClinVar Annotator: match by OMIM:158580		 OMIM
ClinVar		 PMID:7420092 PMID:11294660 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 NCBI chr 9:5,294,377...5,330,822
Ensembl chr 9:5,294,381...5,330,815 		JBrowse link
G Sult1c2a sulfotransferase family, cytosolic, 1C, member 2a ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,152,588...4,168,355
Ensembl chr 9:4,152,589...4,168,221 		JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,931,038...4,978,847
Ensembl chr 9:4,930,818...4,978,892 		JBrowse link
distal hereditary motor neuronopathy type 7B 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: Distal hereditary motor neuronopathy type 7B
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB		 OMIM
ClinVar		 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16505168 PMID:17824900 PMID:18094236 PMID:18364389 PMID:18812314 PMID:19279216 PMID:19506225 PMID:22777741 PMID:23143281 PMID:24627108 PMID:25025039 PMID:25299611 PMID:25382069 PMID:25635128 PMID:25741868 PMID:26392352 PMID:26429889 PMID:26467025 PMID:26662454 PMID:27132499 PMID:27573046 PMID:28130640 PMID:28430856 PMID:28492532 PMID:29525180 PMID:32028661 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769 		JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16714318 PMID:18425620 PMID:21715711 PMID:22206013 PMID:26955893 PMID:28492532 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068 		JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:26467025 PMID:28492532 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574 		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 chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309 		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:28492532 PMID:29213238 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24533459 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539 		JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577 		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 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25900305 PMID:26110311 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28492532 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902 		JBrowse link
distal hereditary motor neuronopathy type 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: Distal spinal muscular atrophy, congenital nonprogressive
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4056805 PMID:8179305 PMID:10463355 PMID:15668982 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21115951 PMID:21288981 PMID:21336783 PMID:21454511 PMID:22065612 PMID:22291064 PMID:22419508 PMID:22526352 PMID:22675077 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26048687 PMID:26110311 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27549087 PMID:27751652 PMID:28492532 PMID:28898540 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902 		JBrowse link
distal hereditary motor neuronopathy type 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 chr 6:132,771,026...132,802,262
Ensembl chr 6:132,771,021...132,802,210 		JBrowse link
distal hereditary motor neuropathy type 2B 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: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
ClinVar Annotator: match by term: HSPB1-Related Disorder
ClinVar Annotator: match by OMIM:608634		 OMIM
ClinVar		 PMID:11528513 PMID:15122254 PMID:16087758 PMID:16155736 PMID:16368711 PMID:17623484 PMID:17881652 PMID:18325928 PMID:18832141 PMID:20178975 PMID:20660910 PMID:22031878 PMID:22057845 PMID:22176143 PMID:22734906 PMID:23643870 PMID:25741868 PMID:25965061 PMID:26467025 PMID:26986878 PMID:27816334 PMID:28144995 PMID:28492532 PMID:28595321 PMID:28702508 PMID:29381233 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049 		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 1 3
                distal hereditary motor neuronopathy type 2 + 4
                distal hereditary motor neuronopathy type 5 + 4
                distal hereditary motor neuronopathy type 7 + 20
                distal hereditary motor neuronopathy type 8 1
                distal hereditary motor neuronopathy type 9 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 1 3
                    distal hereditary motor neuronopathy type 2 + 4
                    distal hereditary motor neuronopathy type 5 + 4
                    distal hereditary motor neuronopathy type 7 + 20
                    distal hereditary motor neuronopathy type 8 1
                    distal hereditary motor neuronopathy type 9 1
paths to the root