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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: OMIM:605588
 xref: ICD10CM:G60.0;   ORDO:98856
For additional species annotation, visit the Alliance of Genome Resources.



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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 DNA:missense mutation:cds:p.R298C (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1
OMIM
ClinVar
RGD
PMID:10612827 PMID:10655060 PMID:10739764 PMID:10939567 PMID:11503164 More... RGD:1358482 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          Laminopathies 46
            Charcot-Marie-Tooth disease type 2B1 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          neurodegenerative disease 3521
            Nervous System Heredodegenerative Disorders 2133
              motor peripheral neuropathy 502
                Charcot-Marie-Tooth disease 329
                  Charcot-Marie-Tooth disease type 2 65
                    Charcot-Marie-Tooth disease type 2B1 1
paths to the root