Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 predominant 2B
go back to main search page
Accession:DOID:0070350 term browser browse the term
Definition:A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: SMALED2B;   spinal muscular atrophy with lower extremity predominance 2B;   spinal muscular atrophy with predominant lower extremity 2B;   spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant;   spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant
 broad_synonym: BICD2-RELATED CONDITION;   SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY PREDOMINANT 2, AUTOSOMAL DOMINANT
 alt_id: DOID:9002187
 xref: EFO:0010264;   MIM:618291;   MONDO:0032660

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
spinal muscular atrophy with lower extremity predominant 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: BICD2-related condition | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant OMIM
ClinVar		 PMID:11241493 PMID:21208200 PMID:23664116 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936487:2,287,736...2,335,674
Ensembl chrNW_004936487:2,255,882...2,335,731 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    Developmental Disease 12849
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12093
        genetic disease 11814
          Nervous System Heredodegenerative Disorders 3185
            spinal muscular atrophy with lower extremity predominant 12
              spinal muscular atrophy with lower extremity predominant 2B 1
Path 2
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      nervous system disease 12614
        peripheral nervous system disease 4163
          neuropathy 3983
            neuromuscular disease 3066
              motor neuron disease 512
                spinal muscular atrophy 152
                  spinal muscular atrophy with lower extremity predominant 12
                    spinal muscular atrophy with lower extremity predominant 2B 1
paths to the root