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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 1B
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Accession:DOID:0110152 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). (DO)
Synonyms:exact_synonym: CMT1B;   Charcot Marie Tooth neuropathy, type 1B;   Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B;   Charcot-Marie-Tooth disease, demyelinating, type 1B;   Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy;   Charcot-Marie-Tooth disease, type 1B, with focally folded myelin sheaths;   Charcot-Marie-Tooth disease, type IB;   HMSN 1B;   HMSN IB;   HMSN1B;   hereditary motor and sensory neuropathy IB
 primary_id: OMIM:118200
 xref: NCI:C118782;   ORDO:101082
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease type 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1b
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IB
ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IB
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths
ClinVar
OMIM
PMID:7504284, PMID:7505151, PMID:7506095, PMID:7511317, PMID:7527371, PMID:7550231, PMID:7688964, PMID:7693129, PMID:7693130, PMID:7694726, PMID:8310815, PMID:8644725, PMID:8664899, PMID:8797476, PMID:8800924, PMID:8816708, PMID:8835320, PMID:8938258, PMID:8990016, PMID:9168174, PMID:9187667, PMID:9452091, PMID:9452099, PMID:9595994, PMID:9633821, PMID:9888385, PMID:10071056, PMID:10093067, PMID:10214757, PMID:10329755, PMID:10399750, PMID:10475757, PMID:10553995, PMID:10581375, PMID:10737979, PMID:10764043, PMID:10923043, PMID:10965800, PMID:11080237, PMID:11182278, PMID:11437164, PMID:11438991, PMID:11445635, PMID:11484669, PMID:11545686, PMID:11801400, PMID:11835375, PMID:12090401, PMID:12207153, PMID:12207932, PMID:12221176, PMID:12242557, PMID:12402337, PMID:12477701, PMID:12497641, PMID:12707985, PMID:12805115, PMID:12845552, PMID:12911457, PMID:12940837, PMID:12948789, PMID:12953275, PMID:14711881, PMID:15050444, PMID:15094849, PMID:15159512, PMID:15170620, PMID:15241803, PMID:15377707, PMID:16279991, PMID:16488608, PMID:16495463, PMID:16521307, PMID:16543539, PMID:16775239, PMID:16844954, PMID:17030746, PMID:17143884, PMID:17172621, PMID:17294201, PMID:17602703, PMID:17915947, PMID:18209201, PMID:18255032, PMID:18337304, PMID:18347322, PMID:18422810, PMID:18636082, PMID:19259128, PMID:19293842, PMID:19475438, PMID:19629567, PMID:19882637, PMID:20215982, PMID:20456450, PMID:20461396, PMID:20556410, PMID:20571287, PMID:20937820, PMID:21107784, PMID:21149811, PMID:21787890, PMID:21840889, PMID:22451207, PMID:22689911, PMID:22734905, PMID:23197742, PMID:23250879, PMID:23290023, PMID:23806086, PMID:24053775, PMID:24088041, PMID:24444136, PMID:25429913, PMID:25448007, PMID:25614874, PMID:25694466, PMID:25720167, PMID:25741868, PMID:26135405, PMID:26234237, PMID:26257172, PMID:26310628, PMID:26378787, PMID:26392352, PMID:26454100, PMID:26467025, PMID:27088055, PMID:27353517, PMID:27639257, PMID:28286897, PMID:28492532, PMID:29670817, PMID:29687021, PMID:30311386 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1b ClinVar PMID:26378787 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
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 1B 2
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 1B 2
paths to the root

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