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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:Primary Lateral Sclerosis Juvenile
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Accession:DOID:9004896 term browser browse the term
Synonyms:exact_synonym: PLS, JUVENILE;   PLSJ
 primary_id: MESH:C536416;   RDO:0002002
 alt_id: OMIM:606353
For additional species annotation, visit the Alliance of Genome Resources.



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Primary Lateral Sclerosis Juvenile 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 OMIM:606353
ClinVar Annotator: match by term: Juvenile primary lateral sclerosis
ClinVar Annotator: match by term: PLS juvenile
OMIM
ClinVar
PMID:11586297 PMID:11586298 PMID:16240357 PMID:19122027 PMID:24315819 More... NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        neurodegenerative disease 3521
          motor neuron disease 399
            Primary Lateral Sclerosis Juvenile 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              motor neuron disease 399
                Primary Lateral Sclerosis Juvenile 1
paths to the root