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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-parkinsonism/dementia complex 1
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Accession:DOID:0111246 term browser browse the term
Definition:A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2. (DO)
Synonyms:exact_synonym: ALS-PDC;   Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome;   Guam PD;   Guam disease;   Guam form of amyotrophic lateral sclerosis;   Lytico-Bodig disease;   PDALS;   amyotrophic lateral sclerosis, Guam form;   amyotrophic lateral sclerosis, parkinsonism, dementia complex of Guam;   parkinsonism-dementia of Guam;   parkinsonism-dementia-ALS complex
 primary_id: OMIM:105500
 xref: GARD:9239;   ORDO:90020

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amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chrNW_004955486:4,974,130...4,985,927
Ensembl chrNW_004955486:4,969,497...4,985,885 		JBrowse link
G Trpm7 transient receptor potential cation channel subfamily M member 7 susceptibility
no_association		 ISO DNA:mutation:cds: p.T1482I (human)
ClinVar Annotator: match by term: Guam disease		 OMIM
RGD
ClinVar		 PMID:19405049 PMID:25741868 PMID:28492532 RGD:5685008 NCBI chrNW_004955409:3,690,722...3,787,139
Ensembl chrNW_004955409:3,691,039...3,785,908 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Diseases of the Aged 1159
      dementia 783
        amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 2
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3827
          neuropathy 3646
            neuromuscular disease 2848
              motor neuron disease 486
                MOTOR NEURON ATROPHY 345
                  amyotrophic lateral sclerosis 345
                    amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 2
paths to the root