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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


show annotations for term's descendants           Sort by:
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 chr10:47,625,470...47,657,493
Ensembl chr10:47,625,470...47,657,493 		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 chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667 		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 chr10:48,561,473...48,593,970
Ensembl chr10:48,561,473...48,593,970 		JBrowse link
G Kap kidney androgen regulated protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr 4:166,674,595...166,677,639
Ensembl chr 4:166,674,595...166,677,639 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: HMSN 1A ClinVar PMID:16217706 PMID:17352390 PMID:18461509 PMID:22933740 PMID:25741868 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Nrg1 neuregulin 1 ISO RGD PMID:30931926 RGD:405650604 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
ISS		 OMIM:118220
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA | ClinVar Annotator: match by term: HMSN 1A		 OMIM
MouseDO
ClinVar		 PMID:475348 PMID:1301995 PMID:1303281 PMID:1349106 PMID:1552536 More... NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714 		JBrowse link
G Ralgdsl6 ral guanine nucleotide dissociation stimulator like 6 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr16:11,203,355...11,209,558 JBrowse link
G Tekt3 tektin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA ClinVar PMID:25741868 NCBI chr10:47,729,635...47,763,589
Ensembl chr10:47,729,635...47,763,588 		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 1 65
              Charcot-Marie-Tooth disease type 1A 9
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          neurodegenerative disease 4906
            Nervous System Heredodegenerative Disorders 3255
              motor peripheral neuropathy 1201
                Charcot-Marie-Tooth disease 659
                  Charcot-Marie-Tooth disease type 1 65
                    Charcot-Marie-Tooth disease type 1A 9
paths to the root