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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 chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
ISS		 OMIM:118300
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E		 OMIM
MouseDO
CTD
ClinVar		 PMID:7139106 PMID:7829101 PMID:8995589 PMID:9324088 PMID:9544841 More... NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      auditory system disease 994
        inner ear disease 669
          sensorineural hearing loss 626
            Charcot-Marie-Tooth disease type 1E 2
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            Otorhinolaryngologic Diseases 1741
              auditory system disease 994
                Hearing Disorders 821
                  Hearing Loss 816
                    sensorineural hearing loss 626
                      Charcot-Marie-Tooth disease type 1E 2
paths to the root