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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 7
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Accession:DOID:0111199 term browser browse the term
Definition:An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. (DO)
Synonyms:exact_synonym: DHMN7A;   DHMNVP;   DHMNVPy;   HMN VIIA;   HMN7A;   HMND7;   Harper-Young myopath;   Harper-Young myopathy;   dHMN7;   distal hereditary motor neuronopathy type 7;   distal hereditary motor neuronopathy type 7A;   distal hereditary motor neuronopathy type VIIA;   distal hereditary motor neuronopathy, Harding type VIIA;   distal hereditary motor neuronopathy, autosomal dominant 7;   distal hereditary motor neuropathy type VIIA;   distal hereditary motor neuropathy, Harding type VIIA;   distal spinal muscular atrophy with vocal cord paralysis;   distal spinal muscular atrophy with vocal cord paralysis type 7A
 primary_id: MESH:C563562
 alt_id: DOID:0111201;   OMIM:158580
 xref: ORDO:139589


show annotations for term's descendants           Sort by:
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 chr 3:47,470,649...47,525,606
Ensembl chr 3:47,470,709...47,523,529 		JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784 		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 chr 3:47,718,251...47,759,060
Ensembl chr 3:47,718,254...47,758,999 		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 chr 3:47,607,737...47,704,921
Ensembl chr 3:47,606,230...47,672,884 		JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		JBrowse link
G LOC100623441 sulfotransferase 1C4 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 3:47,765,022...47,777,178
Ensembl chr 3:47,766,407...47,776,867 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia OMIM
ClinVar		 PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More... NCBI chr 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379 		JBrowse link
G SULT1C2 sulfotransferase family 1C member 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 3:47,807,830...47,824,199
Ensembl chr 3:47,807,832...47,824,187 		JBrowse link
G SULT1C3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 3:47,838,671...47,864,646
Ensembl chr 3:47,838,558...47,856,943 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    sensory system disease 6507
      Otorhinolaryngologic Diseases 1660
        laryngeal disease 67
          Vocal Cord Paralysis 12
            autosomal dominant distal hereditary motor neuronopathy 7 9
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        peripheral nervous system disease 3993
          neuropathy 3802
            cranial nerve disease 668
              glossopharyngeal nerve disease 33
                Vagus nerve disease 12
                  Vocal Cord Paralysis 12
                    autosomal dominant distal hereditary motor neuronopathy 7 9
paths to the root