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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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intermediate 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 II OMIM
ClinVar
PMID:9158159, PMID:9590291, PMID:9818944, PMID:9837824, PMID:10205265, PMID:10369311, PMID:11313744, PMID:11704667, PMID:12515823, PMID:14715275, PMID:15580564, PMID:17475491, PMID:17895963, PMID:18492800, PMID:19050931, PMID:20057317, PMID:21118896, PMID:21209906, PMID:21673580, PMID:21920940, PMID:22750651, PMID:22813737, PMID:22975760, PMID:23112048, PMID:24498607, PMID:24844453, PMID:25144193, PMID:25716911, PMID:25741868, PMID:26467025, PMID:27425821 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 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          Nervous System Heredodegenerative Disorders 1947
            childhood spinal muscular atrophy 7
              intermediate spinal muscular atrophy 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              motor neuron disease 371
                spinal muscular atrophy 127
                  childhood spinal muscular atrophy 7
                    intermediate spinal muscular atrophy 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.