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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 1G
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Accession:DOID:0111560 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in PMP2 on chromosome 8q21.13. (DO)
Synonyms:exact_synonym: CMT1G;   Charcot-Marie-Tooth Disease Type IG;   Charcot-Marie-Tooth disease, demyelinating, type 1G;   PMP2-related CMT1;   PMP2-related Charcot-Marie-Tooth disease type 1;   PMP2-related Charcot-Marie-Tooth neuropathy type 1;   PMP2-related hereditary motor and sensory neuropathy type 1
 primary_id: OMIM:618279
 xref: ORDO:476394
For additional species annotation, visit the Alliance of Genome Resources.



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Charcot-Marie-Tooth disease type 1G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pmp2 peripheral myelin protein 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1G
ClinVar
OMIM
PMID:23806086 PMID:24088041 PMID:25741868 PMID:26257172 PMID:26828946 More... NCBI chr 2:91,611,334...91,615,252
Ensembl chr 2:91,611,334...91,615,252
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      musculoskeletal system disease 6446
        neuromuscular disease 1875
          Charcot-Marie-Tooth disease 327
            Charcot-Marie-Tooth disease type 1 27
              Charcot-Marie-Tooth disease type 1G 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          neurodegenerative disease 3518
            Nervous System Heredodegenerative Disorders 2128
              motor peripheral neuropathy 498
                Charcot-Marie-Tooth disease 327
                  Charcot-Marie-Tooth disease type 1 27
                    Charcot-Marie-Tooth disease type 1G 1
paths to the root