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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
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Accession:DOID:0070348 term browser browse the term
Definition:A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles. (DO)
Synonyms:xref: OMIM:PS158600
For additional species annotation, visit the Alliance of Genome Resources.


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spinal muscular atrophy with lower extremity predominance 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 with lower extremity predominance ClinVar PMID:23664120 PMID:25512093 PMID:25609763 PMID:25741868 PMID:26100331 More... NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
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
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 term: Spinal muscular atrophy, lower extremity-predominant, 2, AD
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant
ClinVar Annotator: match by OMIM:615290
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
spinal muscular atrophy with lower extremity predominante 2B 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, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant
ClinVar
OMIM
PMID:25741868 PMID:27751653 PMID:28635954 PMID:30054298 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO DNA:missense mutation: :m.14459G>A (p.A72V) (human) RGD PMID:8016139 RGD:8657128 Ensembl chr MT:13,543...14,061 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          Nervous System Heredodegenerative Disorders 2118
            spinal muscular atrophy with lower extremity predominance 4
              spinal muscular atrophy with lower extremity predominance 1 1
              spinal muscular atrophy with lower extremity predominance 2A 2
              spinal muscular atrophy with lower extremity predominante 2B 2
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              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
                    spinal muscular atrophy with lower extremity predominance 2A 2
                    spinal muscular atrophy with lower extremity predominante 2B 2
paths to the root