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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, type 1b, with focally folded myelin sheaths
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, 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
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:17030746 PMID:17143884 PMID:17172621 PMID:17294201 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: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 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 16123
    disease of anatomical entity 15370
      musculoskeletal system disease 5283
        neuromuscular disease 1766
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 1 27
              Charcot-Marie-Tooth disease type 1B 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          neurodegenerative disease 3220
            Nervous System Heredodegenerative Disorders 1911
              motor peripheral neuropathy 522
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 1 27
                    Charcot-Marie-Tooth disease type 1B 2
paths to the root