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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 dominant intermediate D
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Accession:DOID:0110200 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)
Synonyms:exact_synonym: CMTDID;   Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D;   DI-CMTD;   autosomal dominant intermediate Charcot-Marie-Tooth disease type D
 primary_id: MESH:C564333
 alt_id: OMIM:607791;   RDO:0013337
 xref: ORDO:100046
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease dominant intermediate D 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 term: Charcot-Marie-Tooth disease dominant intermediate d
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D
OMIM
ClinVar
PMID:7505151 PMID:7527371 PMID:8664899 PMID:9187667 PMID:9452091 PMID:9633821 PMID:9888385 PMID:10071056 PMID:10329755 PMID:10406984 PMID:10737979 PMID:10764043 PMID:10923043 PMID:11080237 PMID:11545686 PMID:11835375 PMID:12207153 PMID:12402337 PMID:12911457 PMID:12948789 PMID:12953275 PMID:15094849 PMID:15159512 PMID:15241803 PMID:15377707 PMID:16279991 PMID:16775239 PMID:18337304 PMID:19629567 PMID:20456450 PMID:20461396 PMID:23197742 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26310628 PMID:26392352 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 17126
    disease of anatomical entity 16474
      musculoskeletal system disease 6400
        neuromuscular disease 1829
          Charcot-Marie-Tooth disease 327
            Charcot-Marie-Tooth disease intermediate type 189
              Charcot-Marie-Tooth disease dominant intermediate D 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          neurodegenerative disease 3491
            Nervous System Heredodegenerative Disorders 2104
              motor peripheral neuropathy 493
                Charcot-Marie-Tooth disease 327
                  Charcot-Marie-Tooth disease intermediate type 189
                    Charcot-Marie-Tooth disease dominant intermediate D 1
paths to the root