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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 COMPLEX OF GUAM;   Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome;   GUAM DISEASE;   Guam PD;   Lytico-Bodig disease;   PDALS;   parkinsonism-dementia of Guam;   parkinsonism-dementia-ALS complex
 primary_id: OMIM:105500
 xref: GARD:9239;   ORDO:90020
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 no_association
susceptibility
ISO DNA:mutation:cds: p.T1482I (human)
ClinVar Annotator: match by term: Guam disease
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:25741868 PMID:16051700 PMID:19405049 RGD:5685005, RGD:5685008 NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Diseases of the Aged 1289
      dementia 712
        amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 2
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              motor neuron disease 399
                MOTOR NEURON ATROPHY 270
                  amyotrophic lateral sclerosis 270
                    amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 2
paths to the root