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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 2A1
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Accession:DOID:0110154 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: CMT2A1;   Charcot-Marie-Tooth Disease, Axonal, Type 2A1;   Charcot-Marie-Tooth Disease, Neuronal, Type 2a1;   Charcot-Marie-Tooth Neuropathy, Type 2A1;   Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1;   HMSN IIA1;   HMSN2A1;   hereditary motor and sensory neuropathy IIA1
 primary_id: MESH:C566138
 alt_id: OMIM:118210
 xref: ORDO:99946
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease type 2A1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1
DNA:missense mutation:cds:p.Q98L (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A1
OMIM
ClinVar
PMID:9409358, PMID:11389829, PMID:25741868, PMID:28492532, PMID:29590070, PMID:11389829 RGD:12738406 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        neuromuscular disease 1777
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth Disease, Type 2A 2
                Charcot-Marie-Tooth disease type 2A1 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          neurodegenerative disease 3191
            Nervous System Heredodegenerative Disorders 1950
              motor peripheral neuropathy 536
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth Disease, Type 2A 2
                      Charcot-Marie-Tooth disease type 2A1 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.