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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:Charcot-Marie-Tooth disease type 2DD
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Accession:DOID:0111558 term browser browse the term
Definition:An autosomal dominant peripheral sensorimotor neuropathy mainly affecting the lower limbs. Affected individuals have gait impairment due to distal muscle weakness and atrophy, but remain ambulatory even late in the disease. (OMIM)
Synonyms:exact_synonym: ATP1A1-related CMT2;   ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2;   CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2DD;   CMT2DD;   Charcot-Marie-Tooth Disease, Axonal, Type 2DD
 primary_id: OMIM:618036
 xref: ORDO:521414
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease type 2DD term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD ClinVar
OMIM
PMID:29499166 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      musculoskeletal system disease 5713
        neuromuscular disease 1774
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth disease type 2DD 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          neurodegenerative disease 3188
            Nervous System Heredodegenerative Disorders 1949
              motor peripheral neuropathy 537
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth disease type 2DD 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.