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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 25
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Accession:DOID:0081379 term browser browse the term
Definition:An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively). (DO)
Synonyms:exact_synonym: ALS25;   KIF5A-related amyotrophic lateral sclerosis;   amyotrophic lateral sclerosis 25
 related_synonym: susceptibility to amyotrophic lateral sclerosis-25
 primary_id: OMIM:617921
 alt_id: DOID:9009136
 xref: NCI:C189922


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amyotrophic lateral sclerosis type 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29342275 More... NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Nutritional and Metabolic Diseases 8205
      disease of metabolism 8205
        Proteostasis Deficiencies 792
          TDP-43 Proteinopathies 421
            amyotrophic lateral sclerosis 382
              amyotrophic lateral sclerosis type 25 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        peripheral nervous system disease 4113
          neuropathy 3898
            neuromuscular disease 3056
              motor neuron disease 531
                MOTOR NEURON ATROPHY 382
                  amyotrophic lateral sclerosis 382
                    amyotrophic lateral sclerosis type 25 1
paths to the root