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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:spinal muscular atrophy with progressive myoclonic epilepsy
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Accession:DOID:0111527 term browser browse the term
Definition:A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in ASAH1 on chromosome 8p22. (DO)
Synonyms:exact_synonym: Jankovic Rivera syndrome;   SMA-PME;   SMAPME;   hereditary myoclonus and progressive distal muscular atrophy;   hereditary myoclonus with progressive distal muscular atrophy;   hereditary myoclonus-progressive distal muscular atrophy syndrome
 primary_id: MESH:C537563
 alt_id: OMIM:159950
 xref: GARD:3044;   GARD:3875;   ORDO:2590
For additional species annotation, visit the Alliance of Genome Resources.


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spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by OMIM:159950
ClinVar Annotator: match by term: Jankovic Rivera syndrome
ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy
OMIM
ClinVar
PMID:22703880, PMID:24164096, PMID:24355074, PMID:25326635, PMID:25741868, PMID:25847462, PMID:26526000, PMID:28492532, PMID:29358611 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      electroclinical syndrome 393
        variable age at onset electroclinical syndrome 54
          progressive myoclonus epilepsy 48
            spinal muscular atrophy with progressive myoclonic epilepsy 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  atrophic muscular disease 328
                    muscular dystrophy 326
                      distal myopathy 27
                        spinal muscular atrophy with progressive myoclonic epilepsy 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.