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 axonal type 2P
go back to main search page
Accession:DOID:0110169 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. (DO)
Synonyms:exact_synonym: CMT 2G;   CMT2G;   CMT2P;   Charcot-Marie-Tooth disease, type 2G;   Charcot-Marie-Tooth disease, type 2P;   Charcot-Marie-Tooth neuropathy, type 2G;   Charcot-Marie-Tooth neuropathy, type 2P
 primary_id: OMIM:614436
 alt_id: RDO:0000515;   RDO:9000224
 xref: GARD:12435;   ORDO:300319

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Charcot-Marie-Tooth disease axonal type 2P term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2P | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2P OMIM
ClinVar		 PMID:3022865 PMID:9536098 PMID:14985381 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624760:7,997,803...8,044,758
Ensembl chrNW_004624760:7,998,107...8,032,972 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15960
    disease of anatomical entity 13723
      musculoskeletal system disease 7205
        neuromuscular disease 2842
          Charcot-Marie-Tooth disease 627
            Charcot-Marie-Tooth disease type 2 246
              Charcot-Marie-Tooth disease axonal type 2P 1
Path 2
Term Annotations click to browse term
  disease 15960
    disease of anatomical entity 13723
      nervous system disease 12004
        central nervous system disease 10780
          neurodegenerative disease 4379
            Nervous System Heredodegenerative Disorders 2996
              motor peripheral neuropathy 1142
                Charcot-Marie-Tooth disease 627
                  Charcot-Marie-Tooth disease type 2 246
                    Charcot-Marie-Tooth disease axonal type 2P 1
paths to the root