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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 2A
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Accession:DOID:0070349 term browser browse the term
Definition:A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: GOWER'S MUSCULAR DYSTROPHY;   SMALED2A;   spinal muscular atrophy, lower extremity-predominant, 2A, AD;   spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant;   spinal muscular atrophy, lower extremity-predominant, 2A, childhood onset, autosomal dominant
 broad_synonym: spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant
 primary_id: OMIM:615290
For additional species annotation, visit the Alliance of Genome Resources.



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spinal muscular atrophy with lower extremity predominance 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar Annotator: match by OMIM:615290
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2, AD
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant
OMIM
ClinVar
PMID:2778477 PMID:8114789 PMID:9536098 PMID:9713859 PMID:17576681 More... NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
JBrowse link
G Tia1 TIA1 cytotoxic granule-associated RNA binding protein ISO ClinVar Annotator: match by term: Gower's muscular dystrophy ClinVar PMID:28492532 PMID:28817800 PMID:31996268 NCBI chr 4:118,852,765...118,883,252
Ensembl chr 4:118,852,837...118,880,586
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          Nervous System Heredodegenerative Disorders 2128
            spinal muscular atrophy with lower extremity predominance 4
              spinal muscular atrophy with lower extremity predominance 2A 2
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        peripheral nervous system disease 2557
          neuropathy 2354
            neuromuscular disease 1875
              motor neuron disease 399
                spinal muscular atrophy 127
                  spinal muscular atrophy with lower extremity predominance 4
                    spinal muscular atrophy with lower extremity predominance 2A 2
paths to the root