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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 1E
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Accession:DOID:0110153 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22). (DO)
Synonyms:exact_synonym: CMT1E;   Charcot-Marie-Tooth disease and deafness;   Charcot-Marie-Tooth disease, demyelinating type 1E;   Charcot-Marie-Tooth disease-deafness;   Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant;   deafness with Charcot-Marie-Tooth disease;   hereditary motor and sensory neuropathy with deafness, mental retardation, and absent sensory large myelinated fibers
 primary_id: MESH:C537986
 alt_id: MESH:C538078;   MESH:C566136;   OMIM:118300;   OMIM:214370
 xref: GARD:9190;   ORDO:90658

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Charcot-Marie-Tooth disease type 1E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: DEAFNESS WITH CHARCOT-MARIE-TOOTH DISEASE ClinVar PMID:12402337 PMID:15241803 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936762:389,655...398,035
Ensembl chrNW_004936762:389,669...395,898 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E OMIM
ClinVar		 PMID:7139106 PMID:7829101 PMID:8995589 PMID:9324088 PMID:9544841 More... NCBI chrNW_004936724:1,747,015...1,780,298
Ensembl chrNW_004936724:1,747,005...1,778,141 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6279
      auditory system disease 897
        inner ear disease 590
          sensorineural hearing loss 548
            Charcot-Marie-Tooth disease type 1E 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        Neurologic Manifestations 9046
          sensory system disease 6279
            Otorhinolaryngologic Diseases 1589
              auditory system disease 897
                Hearing Disorders 732
                  Hearing Loss 727
                    sensorineural hearing loss 548
                      Charcot-Marie-Tooth disease type 1E 2
paths to the root