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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 14
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Accession:DOID:0111202 term browser browse the term
Definition:An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. (DO)
Synonyms:exact_synonym: DHMN7B;   HMN VIIB;   HMN7B;   HMND14;   Lower Motor Neuron Disease, Dynactin Type;   distal hereditary motor neuronopathy type 7B;   distal hereditary motor neuronopathy, Harding type VIIB;   distal hereditary motor neuronopathy, type VIIB;   distal hereditary motor neuropathy type VIIB;   distal hereditary motor neuropathy with vocal cord paralysis, Harding type VIIB;   distal hereditary motor neuropathy with vocal cord paralysis, type VIIB;   distal hereditary motor neuropathy, Harding type VIIB;   distal spinal muscular atrophy with vocal cord paralysis type 7B
 broad_synonym: GENETIC MOTOR NEURON DISEASE
 primary_id: MESH:C564362
 alt_id: OMIM:607641


show annotations for term's descendants           Sort by:
autosomal dominant distal hereditary motor neuronopathy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCTN1 dynactin subunit 1 susceptibility ISO ClinVar Annotator: match by term: LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, HARDING TYPE VIIB | 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 chr2A:74,428,060...74,458,574
Ensembl chr2A:75,934,752...75,953,296 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 7:31,208,351...31,247,841
Ensembl chr 7:31,329,456...31,368,582 		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 chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077 		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 chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273 		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 chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694 		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 1:5,228,681...5,259,554
Ensembl chr 1:6,481,782...6,535,643 		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 chr 3:38,741,485...38,948,400
Ensembl chr 3:39,024,921...39,128,015 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24533459 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665 		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 chr 5:144,412,449...144,490,183
Ensembl chr 5:150,438,976...150,498,354 		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 chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15697
    disease of anatomical entity 15311
      nervous system disease 13350
        neurodegenerative disease 4747
          motor neuron disease 518
            spinal muscular atrophy 151
              autosomal dominant distal hereditary motor neuronopathy 34
                autosomal dominant distal hereditary motor neuronopathy 14 11
Path 2
Term Annotations click to browse term
  disease 15697
    disease of anatomical entity 15311
      nervous system disease 13350
        peripheral nervous system disease 4053
          neuropathy 3860
            neuromuscular disease 3033
              motor neuron disease 518
                spinal muscular atrophy 151
                  autosomal dominant distal hereditary motor neuronopathy 34
                    autosomal dominant distal hereditary motor neuronopathy 14 11
paths to the root