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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 23
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Accession:DOID:0080225 term browser browse the term
Definition:An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. (DO)
Synonyms:exact_synonym: ALS23;   amyotrophic lateral sclerosis 23
 broad_synonym: ANXA11-RELATED CONDITION
 primary_id: OMIM:617839
 xref: NCI:C178411

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amyotrophic lateral sclerosis type 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa11 annexin A11 ISO ClinVar Annotator: match by term: ANXA11-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 23 OMIM
ClinVar		 PMID:25741868 PMID:28469040 PMID:28492532 PMID:29650794 PMID:29845112 More... NCBI chrNW_004936521:231,294...275,138
Ensembl chrNW_004936521:228,298...275,151 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6783
      disease of metabolism 6783
        Proteostasis Deficiencies 711
          TDP-43 Proteinopathies 389
            amyotrophic lateral sclerosis 352
              amyotrophic lateral sclerosis type 23 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        peripheral nervous system disease 3886
          neuropathy 3704
            neuromuscular disease 2899
              motor neuron disease 494
                MOTOR NEURON ATROPHY 352
                  amyotrophic lateral sclerosis 352
                    amyotrophic lateral sclerosis type 23 1
paths to the root