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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: OMIM:607736;   RDO:0000518
 xref: ORDO:99943
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 ClinVar Annotator: match by OMIM:607736
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J
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
ClinVar
PMID:7527371, PMID:8664899, PMID:9187667, PMID:9452091, PMID:10071056, PMID:10329755, PMID:10737979, PMID:10764043, PMID:10923043, PMID:11080237, PMID:11545686, PMID:12207153, PMID:12402337, PMID:12911457, PMID:12948789, PMID:12953275, PMID:15094849, PMID:15159512, PMID:15241803, PMID:15326256, PMID:15377707, PMID:16279991, PMID:16775239, PMID:17663472, PMID:18337304, PMID:19629567, PMID:20461396, PMID:25720167, PMID:25741868, PMID:26234237, PMID:26467025, PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      auditory system disease 754
        inner ear disease 527
          sensorineural hearing loss 489
            Charcot-Marie-Tooth disease type 2J 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          neurodegenerative disease 3190
            Nervous System Heredodegenerative Disorders 1950
              motor peripheral neuropathy 536
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth disease type 2J 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.