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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.


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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 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 16123
    sensory system disease 5245
      auditory system disease 741
        inner ear disease 528
          sensorineural hearing loss 488
            Charcot-Marie-Tooth disease type 2J 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          neurodegenerative disease 3220
            Nervous System Heredodegenerative Disorders 1911
              motor peripheral neuropathy 522
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth disease type 2J 1
paths to the root