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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, Autosomal Recessive
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Accession:DOID:9009017 term browser browse the term
Synonyms:exact_synonym: AMYOTROPHIC LATERAL SCLEROSIS, RECESSIVE
 primary_id: MESH:C566290


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Amyotrophic Lateral Sclerosis, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr15:105,328,717...105,401,152
Ensembl chr15:105,328,719...105,401,093 		JBrowse link
G OPTN optineurin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,843...48,582,860 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Nutritional and Metabolic Diseases 7079
      disease of metabolism 7079
        Proteostasis Deficiencies 752
          TDP-43 Proteinopathies 408
            amyotrophic lateral sclerosis 370
              Amyotrophic Lateral Sclerosis, Autosomal Recessive 2
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        peripheral nervous system disease 3991
          neuropathy 3800
            neuromuscular disease 2980
              motor neuron disease 517
                MOTOR NEURON ATROPHY 370
                  amyotrophic lateral sclerosis 370
                    Amyotrophic Lateral Sclerosis, Autosomal Recessive 2
paths to the root