Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 3
go back to main search page
Accession:DOID:0050540 term browser browse the term
Definition:A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination. (DO)
Synonyms:exact_synonym: CMT3;   DSN;   DSS;   Dejerine Sottas disease;   Dejerine Sottas neuropathy;   Dejerine Sottas syndrome;   Dejerine-Sottas hypertrophic neuropathy;   Dejerine-Sottas neuropathy, autosomal dominant;   Dejerine-Sottas syndrome, autosomal dominant;   Dejerine-Sottas syndrome, autosomal recessive;   HMSN type III;   HMSN3;   hereditary motor and sensory neuropathy 3;   hereditary motor and sensory neuropathy type III;   hypertrophic neuropathy of Dejerine Sottas
 primary_id: OMIM:145900
 xref: GARD:9204;   NCI:C133087;   ORDO:64748
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Charcot-Marie-Tooth disease type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Dejerine-Sottas disease
ClinVar Annotator: match by term: Dejerine-sottas neuropathy, autosomal dominant
OMIM
ClinVar
PMID:10369870 PMID:10371530 PMID:11523566 PMID:15947997 PMID:16198564 PMID:17717711 PMID:22546699 PMID:25741868 PMID:27013732 PMID:27159987 PMID:28492532 PMID:30843326 NCBI chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Dejerine-Sottas disease
ClinVar Annotator: match by term: HMSN Type III
ClinVar PMID:9633821 PMID:10737979 PMID:15241803 PMID:15947997 PMID:28492532 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Dejerine-Sottas disease
ClinVar Annotator: match by term: Dejerine-Sottas syndrome, autosomal dominant
ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome
OMIM
ClinVar
PMID:3467805 PMID:6099985 PMID:7506095 PMID:7530550 PMID:7581451 PMID:7693130 PMID:7694726 PMID:8630052 PMID:8816708 PMID:8835320 PMID:9452091 PMID:9888385 PMID:11596785 PMID:11835375 PMID:11935267 PMID:12402337 PMID:16495463 PMID:17143884 PMID:18255032 PMID:20385006 PMID:20461396 PMID:20878767 PMID:20937820 PMID:21363884 PMID:21504504 PMID:22734905 PMID:25326637 PMID:26467025 PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Dejerine-Sottas syndrome, autosomal dominant
ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome
ClinVar Annotator: match by term: Dejerine-Sottas disease
OMIM
ClinVar
PMID:1552943 PMID:3467805 PMID:7728152 PMID:7825607 PMID:8275092 PMID:8422677 PMID:8541860 PMID:8995589 PMID:9004143 PMID:9055797 PMID:9187667 PMID:9425015 PMID:9452053 PMID:9544841 PMID:9585367 PMID:9888385 PMID:10078969 PMID:10093067 PMID:10211478 PMID:10399754 PMID:10663978 PMID:10982389 PMID:11139264 PMID:11314784 PMID:12090401 PMID:12439896 PMID:12901701 PMID:15285778 PMID:15474367 PMID:15537650 PMID:15992829 PMID:18698610 PMID:18795802 PMID:21670407 PMID:21840889 PMID:25385046 PMID:25741868 PMID:26102530 PMID:26392352 PMID:28492532 PMID:30311386 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Dejerine-Sottas disease
ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome
OMIM
ClinVar
PMID:11133365 PMID:11157804 PMID:12112076 PMID:15197604 PMID:15469949 PMID:16770524 PMID:21079185 PMID:22847150 PMID:25326635 PMID:25628743 PMID:25741868 PMID:26059842 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        neuromuscular disease 1802
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 3 5
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          neurodegenerative disease 3235
            Nervous System Heredodegenerative Disorders 1952
              motor peripheral neuropathy 536
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 3 5
paths to the root