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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:scapuloperoneal spinal muscular atrophy
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Accession:DOID:0111552 term browser browse the term
Definition:A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11. (DO)
Synonyms:exact_synonym: SPSMA;   neurogenic scapuloperoneal amyotrophy, New England type;   scapuloperoneal form of spinal muscular atrophy;   scapuloperoneal neuronopathy;   spinal muscular atrophy, scapuloperoneal form
 primary_id: OMIM:181405
 xref: GARD:10314;   ICD10CM:G12.1;   ORDO:431255
For additional species annotation, visit the Alliance of Genome Resources.


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scapuloperoneal spinal muscular atrophy 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Scapuloperoneal Spinal Muscular Atrophy
ClinVar Annotator: match by term: Scapuloperoneal spinal muscular atrophy
ClinVar Annotator: match by term: Scapuloperoneal Form of Spinal Muscular Atrophy
ClinVar Annotator: match by term: Amyotrophy, neurogenic scapuloperoneal, New England type
OMIM
CTD
ClinVar
PMID:956253, PMID:1520078, PMID:4056805, PMID:8179305, PMID:11891693, PMID:14755468, PMID:15668982, PMID:18587396, PMID:19232556, PMID:19661060, PMID:19666518, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20425821, PMID:20460441, PMID:20503319, PMID:20577006, PMID:21115951, PMID:21288981, PMID:21336783, PMID:21454511, PMID:21964574, PMID:22065612, PMID:22419508, PMID:22689196, PMID:22702953, PMID:22791502, PMID:22851605, PMID:24319099, PMID:24575025, PMID:24677493, PMID:24789864, PMID:24963089, PMID:25256292, PMID:25741868, PMID:25900305, PMID:26110311, PMID:26249260, PMID:26392352, PMID:26467025, PMID:26948711, PMID:27330106, PMID:27751652, PMID:28492532, PMID:28898540 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        neurodegenerative disease 3186
          motor neuron disease 371
            spinal muscular atrophy 127
              scapuloperoneal spinal muscular atrophy 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              motor neuron disease 371
                spinal muscular atrophy 127
                  scapuloperoneal spinal muscular atrophy 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.