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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 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      auditory system disease 754
        inner ear disease 527
          sensorineural hearing loss 489
            Charcot-Marie-Tooth disease type 1E 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          neurodegenerative disease 3191
            Nervous System Heredodegenerative Disorders 1950
              motor peripheral neuropathy 536
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 1 26
                    Charcot-Marie-Tooth disease type 1E 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.