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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 1A
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Accession:DOID:0110148 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). (DO)
Synonyms:exact_synonym: CMT1A;   Charcot Marie Tooth disease, type IA;   Charcot Marie Tooth neuropathy, type 1A;   Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A;   Charcot-Marie-Tooth disease, demyelinating, type 1A;   Charcot-Marie-Tooth disease, type 1A, with focally folded myelin sheaths;   HMSN 1A;   HMSN IA;   HMSN1A;   hereditary motor and sensory neuropathy 1A;   hereditary motor and sensory neuropathy IA;   microduplication 17p12
 primary_id: OMIM:118220
 xref: GARD:1245;   NCI:C75468;   ORDO:101081
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdrt4 CMT1A duplicated region transcript 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:49,368,183...49,400,284
Ensembl chr10:49,368,314...49,400,193
JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539
JBrowse link
G Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:50,369,097...50,402,584
Ensembl chr10:50,366,952...50,402,616
JBrowse link
G LOC102553110 ral guanine nucleotide dissociation stimulator-like ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr16:12,173,055...12,177,781
Ensembl chr16:12,174,370...12,176,832
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths
OMIM
ClinVar
PMID:475348, PMID:1301995, PMID:1303281, PMID:1349106, PMID:1552536, PMID:1552545, PMID:1564512, PMID:1677316, PMID:1721895, PMID:1822787, PMID:6313869, PMID:7649472, PMID:8105684, PMID:8252046, PMID:8492918, PMID:8500795, PMID:8510709, PMID:8988161, PMID:8995589, PMID:9040737, PMID:9371959, PMID:9425015, PMID:9452053, PMID:9452099, PMID:9543325, PMID:9712007, PMID:9852256, PMID:10078969, PMID:10489052, PMID:10586280, PMID:10737979, PMID:11081809, PMID:11545686, PMID:11835375, PMID:12090404, PMID:12211648, PMID:14502374, PMID:15205993, PMID:15537650, PMID:15786462, PMID:16437560, PMID:17796454, PMID:18795802, PMID:19067730, PMID:19259128, PMID:19691535, PMID:20842290, PMID:21149811, PMID:21194947, PMID:21228398, PMID:21252112, PMID:21692910, PMID:21827951, PMID:22006697, PMID:23689413, PMID:23965407, PMID:25385046, PMID:25400662, PMID:25741868, PMID:26012543, PMID:26102530, PMID:26392352, PMID:26467025, PMID:27609586, PMID:28333917, PMID:28492532, PMID:30311386 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link
G Tekt3 tektin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:49,472,520...49,506,473
Ensembl chr10:49,472,460...49,506,465
JBrowse link

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 1 26
              Charcot-Marie-Tooth disease type 1A 6
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 1 26
                    Charcot-Marie-Tooth disease type 1A 6
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.