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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 axonal type 2P
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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


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:614436
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
CTD
MouseDO
ClinVar		 PMID:3022865 PMID:9536098 PMID:14985381 PMID:16199547 PMID:17576681 More... NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        neuromuscular disease 3059
          Charcot-Marie-Tooth disease 659
            Charcot-Marie-Tooth disease type 2 259
              Charcot-Marie-Tooth disease axonal type 2P 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          neurodegenerative disease 4902
            Nervous System Heredodegenerative Disorders 3254
              motor peripheral neuropathy 1201
                Charcot-Marie-Tooth disease 659
                  Charcot-Marie-Tooth disease type 2 259
                    Charcot-Marie-Tooth disease axonal type 2P 1
paths to the root