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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 19
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Accession:DOID:0060210 term browser browse the term
Definition:An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2. (DO)
Synonyms:exact_synonym: ALS19;   ERBB4-RELATED CONDITION;   amyotrophic lateral sclerosis 19
 primary_id: OMIM:615515
 alt_id: RDO:9000975


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amyotrophic lateral sclerosis type 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 19 | ClinVar Annotator: match by term: ERBB4-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24119685 PMID:25741868 PMID:28492532 More... NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7184
      disease of metabolism 7184
        Proteostasis Deficiencies 747
          TDP-43 Proteinopathies 408
            amyotrophic lateral sclerosis 369
              amyotrophic lateral sclerosis type 19 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        peripheral nervous system disease 4036
          neuropathy 3845
            neuromuscular disease 3025
              motor neuron disease 517
                MOTOR NEURON ATROPHY 369
                  amyotrophic lateral sclerosis 369
                    amyotrophic lateral sclerosis type 19 1
paths to the root