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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, 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: Autosomal recessive Dejerine-Sottas syndrome
ClinVar Annotator: match by term: Dejerine-Sottas syndrome, autosomal dominant
ClinVar Annotator: match by term: HMSN Type III
ClinVar Annotator: match by term: Dejerine-Sottas disease
OMIM
ClinVar
PMID:1523566, 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:9543325, PMID:9544841, PMID:9585367, PMID:9888385, PMID:10078969, PMID:10093067, PMID:10211478, PMID:10369870, PMID:10399754, PMID:10663978, PMID:10982389, PMID:11139264, PMID:11314784, PMID:11523566, PMID:11835375, PMID:12090401, PMID:12439896, PMID:12901701, PMID:15285778, PMID:15474367, PMID:15537650, PMID:15992829, PMID:18592125, PMID:18698610, PMID:18795802, PMID:21670407, PMID:21840889, PMID:23224996, PMID:23781966, PMID:24534835, PMID:24646194, PMID:24668782, PMID:24726093, PMID:25385046, PMID:25741868, PMID:26076881, 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 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        neuromuscular disease 1805
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 3 5
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          neurodegenerative disease 3201
            Nervous System Heredodegenerative Disorders 1954
              motor peripheral neuropathy 535
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 3 5
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.