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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 2B1
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Accession:DOID:0110156 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B1;   CMT2B1;   Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B1;   Charcot-Marie-Tooth Neuropathy, Type 2b1;   Charcot-Marie-Tooth disease, axonal, Type 2B1;   Charcot-Marie-Tooth disease, neuronal, Type 2B1;   autosomal recessive Charcot-Marie-Tooth disease type 2B1;   autosomal recessive axonal CMT4C1
 primary_id: MESH:C537990
 alt_id: MIM:605588
 xref: ICD10CM:G60.0;   ORDO:98856



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Charcot-Marie-Tooth disease type 2B1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO
ISS
DNA:missense mutation:cds:p.R298C (human)
CTD Direct Evidence: marker/mechanism
OMIM:605588
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1
OMIM
CTD
MouseDO
ClinVar
RGD
PMID:2007407 PMID:2270059 PMID:2338570 PMID:2733290 PMID:2753225 More... RGD:1358482 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          Laminopathies 59
            Charcot-Marie-Tooth disease type 2B1 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          neurodegenerative disease 5086
            Nervous System Heredodegenerative Disorders 3381
              motor peripheral neuropathy 1307
                Charcot-Marie-Tooth disease 730
                  Charcot-Marie-Tooth disease type 2 320
                    Charcot-Marie-Tooth disease type 2B1 1
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