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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 with lower extremity predominance 1
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Accession:DOID:0070351 term browser browse the term
Definition:A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. (DO)
Synonyms:exact_synonym: Kugelberg-Welander Syndrome, Autosomal Dominant;   SMA-LED;   SMALED1;   Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant;   lower extremity-predominant spinal muscular atrophy 1, autosomal dominant;   proximal juvenile spinal muscular atrophy, autosomal dominant
 primary_id: MESH:C563560
 alt_id: OMIM:158600
For additional species annotation, visit the Alliance of Genome Resources.



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spinal muscular atrophy with lower extremity predominance 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant OMIM
ClinVar
PMID:9536098 PMID:10862709 PMID:12730604 PMID:17576681 PMID:20697106 More... NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    Developmental Disease 10942
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9477
        genetic disease 8979
          Nervous System Heredodegenerative Disorders 2120
            spinal muscular atrophy with lower extremity predominance 4
              spinal muscular atrophy with lower extremity predominance 1 1
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        peripheral nervous system disease 2536
          neuropathy 2332
            neuromuscular disease 1838
              motor neuron disease 399
                spinal muscular atrophy 127
                  spinal muscular atrophy with lower extremity predominance 4
                    spinal muscular atrophy with lower extremity predominance 1 1
paths to the root