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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:adult spinal muscular atrophy
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Accession:DOID:0050529 term browser browse the term
Definition:A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. (DO)
Synonyms:exact_synonym: SMA4;   spinal muscular atrophy 4;   spinal muscular atrophy, adult form;   spinal muscular atrophy, proximal, adult, autosomal recessive;   spinal muscular atrophy, type IV
 primary_id: OMIM:271150
 alt_id: MESH:C538417;   MESH:C563948
 xref: ORDO:83420
For additional species annotation, visit the Alliance of Genome Resources.


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adult spinal muscular atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smn1 survival of motor neuron 1, telomeric ISO ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, TYPE IV OMIM
ClinVar
PMID:21542063 PMID:25741868 PMID:28492532 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        neurodegenerative disease 3235
          motor neuron disease 375
            spinal muscular atrophy 127
              adult spinal muscular atrophy 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              motor neuron disease 375
                spinal muscular atrophy 127
                  adult spinal muscular atrophy 1
paths to the root