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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:amyotrophic lateral sclerosis type 20
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Accession:DOID:0060211 term browser browse the term
Definition:An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12. (DO)
Synonyms:exact_synonym: ALS20;   amyotrophic lateral sclerosis 20
 primary_id: OMIM:615426
 alt_id: RDO:9000807


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amyotrophic lateral sclerosis type 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 20 OMIM
ClinVar
PMID:23455423 PMID:25741868 NCBI chrNW_004936512:11,481,017...11,487,737 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6774
      disease of metabolism 6774
        Proteostasis Deficiencies 709
          TDP-43 Proteinopathies 388
            amyotrophic lateral sclerosis 351
              amyotrophic lateral sclerosis type 20 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      nervous system disease 12321
        peripheral nervous system disease 3867
          neuropathy 3685
            neuromuscular disease 2888
              motor neuron disease 493
                MOTOR NEURON ATROPHY 351
                  amyotrophic lateral sclerosis 351
                    amyotrophic lateral sclerosis type 20 1
paths to the root