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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, Jokela Type
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Accession:DOID:9004598 term browser browse the term
Synonyms:exact_synonym: SMAJ
 primary_id: OMIM:615048;   RDO:9000441
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Spinal Muscular Atrophy, Jokela Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:21715705 PMID:22535186 PMID:25113787 PMID:25155093 PMID:25193783 PMID:25261972 PMID:25348631 PMID:25428574 PMID:25576308 PMID:25681414 PMID:25700176 PMID:25726362 PMID:25741868 PMID:25833818 PMID:26152333 PMID:26224640 PMID:27810918 PMID:28492532 PMID:28585542 PMID:29112723 PMID:29121267 PMID:29315381 PMID:29789341 PMID:30014597 NCBI chr20:13,665,046...13,666,845
Ensembl chr20:13,665,031...13,667,333
JBrowse link
G RGD1564162 similar to Homo sapiens fetal lung specific expression unknown ISO ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type ClinVar PMID:28492532 NCBI chr20:13,661,603...13,665,073
Ensembl chr20:13,662,867...13,664,091
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      musculoskeletal system disease 6400
        neuromuscular disease 1829
          motor neuron disease 398
            spinal muscular atrophy 127
              Spinal Muscular Atrophy, Jokela Type 2
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        peripheral nervous system disease 2516
          neuropathy 2316
            neuromuscular disease 1829
              motor neuron disease 398
                spinal muscular atrophy 127
                  Spinal Muscular Atrophy, Jokela Type 2
paths to the root