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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 18
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Accession:DOID:0060209 term browser browse the term
Definition:An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17. (DO)
Synonyms:exact_synonym: ALS18;   PFN1-RELATED CONDITION;   amyotrophic lateral sclerosis 18
 primary_id: OMIM:614808

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amyotrophic lateral sclerosis type 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 18 | ClinVar Annotator: match by term: PFN1-related condition OMIM
ClinVar		 PMID:22801503 PMID:24309268 PMID:25741868 PMID:26908597 PMID:28492532 More... NCBI chrNW_004936677:2,762,971...2,766,038
Ensembl chrNW_004936677:2,762,971...2,766,149 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6781
      disease of metabolism 6781
        Proteostasis Deficiencies 711
          TDP-43 Proteinopathies 389
            amyotrophic lateral sclerosis 352
              amyotrophic lateral sclerosis type 18 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        peripheral nervous system disease 3883
          neuropathy 3701
            neuromuscular disease 2898
              motor neuron disease 494
                MOTOR NEURON ATROPHY 352
                  amyotrophic lateral sclerosis 352
                    amyotrophic lateral sclerosis type 18 1
paths to the root