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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:intermediate spinal muscular atrophy
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Accession:DOID:0050530 term browser browse the term
Definition:A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length 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: SMA II;   SMA2;   spinal muscular atrophy 2;   spinal muscular atrophy, infantile chronic form;   spinal muscular atrophy, intermediate type;   spinal muscular atrophy, type 2;   spinal muscular atrophy, type II
 primary_id: OMIM:253550
 xref: NCI:C156310;   ORDO:83418
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    Developmental Disease 18234
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18064
        genetic disease 17984
          Nervous System Heredodegenerative Disorders 3188
            childhood spinal muscular atrophy 6
              intermediate spinal muscular atrophy 1
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      nervous system disease 14109
        peripheral nervous system disease 4076
          neuropathy 3860
            neuromuscular disease 3065
              motor neuron disease 535
                spinal muscular atrophy 145
                  childhood spinal muscular atrophy 6
                    intermediate spinal muscular atrophy 1
paths to the root