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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 type 0
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Accession:DOID:0080667 term browser browse the term
Definition:A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles. (DO)
Synonyms:exact_synonym: very severe spinal muscular atrophy


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          Nervous System Heredodegenerative Disorders 3255
            childhood spinal muscular atrophy 9
              spinal muscular atrophy type 0 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              motor neuron disease 531
                spinal muscular atrophy 152
                  childhood spinal muscular atrophy 9
                    spinal muscular atrophy type 0 0
paths to the root