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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:614436
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2P
OMIM
ClinVar
PMID:3022865, PMID:14871449, PMID:14985381, PMID:15256501, PMID:16941080, PMID:17294338, PMID:20865121, PMID:21840889, PMID:22012984, PMID:22781092, PMID:24894446, PMID:25741868, PMID:26392352, PMID:26752306, PMID:26900582, PMID:27164712, PMID:27615052, PMID:27686364, PMID:28286897, PMID:28335037, PMID:28492532, PMID:29341362, PMID:30996334 NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        neuromuscular disease 1778
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth disease axonal type 2P 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          neurodegenerative disease 3190
            Nervous System Heredodegenerative Disorders 1950
              motor peripheral neuropathy 536
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth disease axonal type 2P 1
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.