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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 2J
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Accession:DOID:0110157 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)
Synonyms:exact_synonym: CMT 2J;   CMT2J;   Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities;   Charcot-Marie-Tooth neuropathy type 2J;   axonal Charcot-Marie-Tooth disease type 2J
 primary_id: MESH:C535417
 alt_id: MIM:607736
 xref: ORDO:99943


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Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities		 OMIM
CTD
ClinVar		 PMID:8816708 PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 More... NCBI chr13:86,103,290...86,109,156
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7383
      auditory system disease 1066
        inner ear disease 738
          sensorineural hearing loss 649
            Charcot-Marie-Tooth disease type 2J 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          sensory system disease 7383
            Otorhinolaryngologic Diseases 1799
              auditory system disease 1066
                Hearing Disorders 850
                  Hearing Loss 845
                    sensorineural hearing loss 649
                      Charcot-Marie-Tooth disease type 2J 1
paths to the root