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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 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
ClinVar
RGD		 PMID:2007407 PMID:2338570 PMID:9500556 PMID:9536098 PMID:10580070 More... RGD:1358482 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          Laminopathies 54
            Charcot-Marie-Tooth disease type 2B1 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          neurodegenerative disease 3944
            Nervous System Heredodegenerative Disorders 2430
              motor peripheral neuropathy 708
                Charcot-Marie-Tooth disease 431
                  Charcot-Marie-Tooth disease type 2 166
                    Charcot-Marie-Tooth disease type 2B1 1
paths to the root