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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
For additional species annotation, visit the Alliance of Genome Resources.


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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: Neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers ClinVar PMID:15241803 PMID:25741868 PMID:28492532 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1E
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness
ClinVar Annotator: match by term: Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant
ClinVar
OMIM
PMID:7139106 PMID:7829101 PMID:10211478 PMID:10330345 PMID:11835375 PMID:11920834 PMID:12578939 PMID:12796555 PMID:15474367 PMID:19067730 PMID:20453308 PMID:23279344 PMID:25400662 PMID:25741868 PMID:26467025 PMID:28374912 PMID:28492532 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      auditory system disease 751
        inner ear disease 538
          sensorineural hearing loss 498
            Charcot-Marie-Tooth disease type 1E 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          neurodegenerative disease 3342
            Nervous System Heredodegenerative Disorders 1977
              motor peripheral neuropathy 480
                Charcot-Marie-Tooth disease 326
                  Charcot-Marie-Tooth disease type 1 27
                    Charcot-Marie-Tooth disease type 1E 2
paths to the root