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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:Hereditary Motor Neuropathy with Myopathic Features
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Accession:DOID:9000655 term browser browse the term
Definition:This disease is an autosomal recessive, slowly progressive disorder with both myopathic and neurogenic features. Muscle biopsy and electrophysiologic studies are consistent with both a myopathic process and an axonal motor neuropathy. The phenotype shows some phenotypic overlap with distal hereditary motor neuropathy.
Synonyms:exact_synonym: HMNMYO;   NEUROMYOPATHY
 pimary_id: OMIM:619216
For additional species annotation, visit the Alliance of Genome Resources.



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Hereditary Motor Neuropathy with Myopathic Features term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Neuromyopathy ClinVar PMID:17377071 PMID:24033266 PMID:24503780 PMID:24915601 PMID:25741868 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Neuromyopathy ClinVar PMID:19477645 PMID:22918376 PMID:24033266 PMID:24503780 PMID:24664454 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Neuromyopathy ClinVar PMID:16084090 PMID:17033962 PMID:17483490 PMID:18253926 PMID:18414213 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Neuromyopathy ClinVar PMID:1520078 PMID:4056805 PMID:8179305 PMID:18587396 PMID:20037586 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Neuropathy, hereditary motor, with myopathic features ClinVar
OMIM
PMID:33459760 NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          neuropathy 2766
            Hereditary Motor Neuropathy with Myopathic Features 5
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          neuropathy 2766
            neuromuscular disease 2185
              muscular disease 1417
                muscle tissue disease 934
                  myopathy 768
                    muscular dystrophy 417
                      Hereditary Motor Neuropathy with Myopathic Features 5
paths to the root