Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 1J
go back to main search page
Accession:DOID:9002349 term browser browse the term
Definition:An autosomal dominant sensorimotor peripheral neuropathy characterized by distal muscle weakness and atrophy, as well as distal sensory impairment, predominantly affecting the lower limbs and resulting in gait abnormalities. Caused by heterozygous mutation in the ITPR3 gene on chromosome 6p21.
Synonyms:exact_synonym: CMT1J;   Charcot-Marie-Tooth disease, demyelinating, type 1J;   Charcot-Marie-Tooth neuropathy, demyelinating, type 1J
 primary_id: OMIM:620111


show annotations for term's descendants           Sort by:
Charcot-Marie-Tooth Disease Type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 susceptibility ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, TYPE 1J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1J ClinVar
OMIM		 PMID:24627108 PMID:25741868 PMID:27549087 PMID:32949214 PMID:36302985 NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      musculoskeletal system disease 8277
        neuromuscular disease 3056
          Charcot-Marie-Tooth disease 659
            Charcot-Marie-Tooth disease type 1 65
              Charcot-Marie-Tooth Disease Type 1J 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        central nervous system disease 12403
          neurodegenerative disease 4895
            Nervous System Heredodegenerative Disorders 3250
              motor peripheral neuropathy 1201
                Charcot-Marie-Tooth disease 659
                  Charcot-Marie-Tooth disease type 1 65
                    Charcot-Marie-Tooth Disease Type 1J 1
paths to the root