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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 3
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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.



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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 More... NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
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:25741868 More... NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-Sottas syndrome, autosomal dominant OMIM
ClinVar
PMID:3467805 PMID:6099985 PMID:7506095 PMID:7530550 PMID:7581451 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-Sottas syndrome, autosomal dominant | ClinVar Annotator: match by term: HMSN Type III OMIM
ClinVar
PMID:1552943 PMID:3467805 PMID:7728152 PMID:7825607 PMID:8275092 More... NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-sottas neuropathy, autosomal dominant OMIM
ClinVar
PMID:11133365 PMID:11157804 PMID:12112076 PMID:15197604 PMID:15469949 More... NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      musculoskeletal system disease 7137
        neuromuscular disease 2185
          Charcot-Marie-Tooth disease 422
            Charcot-Marie-Tooth disease type 3 5
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          neurodegenerative disease 3870
            Nervous System Heredodegenerative Disorders 2364
              motor peripheral neuropathy 673
                Charcot-Marie-Tooth disease 422
                  Charcot-Marie-Tooth disease type 3 5
paths to the root