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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 predominant lower extremity 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
 xref: NCI:C191765


show annotations for term's descendants           Sort by:
spinal muscular atrophy with predominant lower extremity 1 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 1, autosomal dominant ClinVar PMID:28492532 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT | 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:18414213 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 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          Nervous System Heredodegenerative Disorders 3248
            spinal muscular atrophy with predominant lower extremity 14
              spinal muscular atrophy with predominant lower extremity 1 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              motor neuron disease 530
                spinal muscular atrophy 152
                  spinal muscular atrophy with predominant lower extremity 14
                    spinal muscular atrophy with predominant lower extremity 1 2
paths to the root