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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: MIM:118200
 xref: NCI:C118782;   ORDO:101082


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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
ISS		 OMIM:118200
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 type 1B | 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		 OMIM
MouseDO
ClinVar		 PMID:7504284 PMID:7505151 PMID:7506095 PMID:7511317 PMID:7527371 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B ClinVar PMID:26378787 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B ClinVar PMID:25741868 PMID:28492532 NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      musculoskeletal system disease 8494
        neuromuscular disease 3203
          Charcot-Marie-Tooth disease 729
            Charcot-Marie-Tooth disease type 1 65
              Charcot-Marie-Tooth disease type 1B 3
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      nervous system disease 14349
        central nervous system disease 12613
          neurodegenerative disease 5012
            Nervous System Heredodegenerative Disorders 3348
              motor peripheral neuropathy 1291
                Charcot-Marie-Tooth disease 729
                  Charcot-Marie-Tooth disease type 1 65
                    Charcot-Marie-Tooth disease type 1B 3
paths to the root