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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, autosomal dominant, type 2A1;   Charcot-Marie-Tooth disease, axonal, type 2A1;   Charcot-Marie-Tooth disease, neuronal, type 2A1;   Charcot-Marie-Tooth neuropathy type 2A1;   HMSN IIA1;   HMSN2A1;   hereditary motor and sensory neuropathy IIA1
 primary_id: MESH:C566138
 alt_id: OMIM:118210
 xref: ORDO:99946


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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 Dgat2 diacylglycerol O-acyltransferase 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 ClinVar NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428 		JBrowse link
G Kif1b kinesin family member 1B ISO
ISS		 DNA:missense mutation:cds:p.Q98L (human)
CTD Direct Evidence: marker/mechanism
OMIM:118210
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 | ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1		 CTD
MouseDO
ClinVar
OMIM
RGD		 PMID:9409358 PMID:11389829 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:12738406 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      musculoskeletal system disease 8276
        neuromuscular disease 3056
          Charcot-Marie-Tooth disease 659
            Charcot-Marie-Tooth disease type 2 258
              Charcot-Marie-Tooth Disease, Type 2A 5
                Charcot-Marie-Tooth disease type 2A1 2
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      nervous system disease 14061
        central nervous system disease 12398
          neurodegenerative disease 4895
            Nervous System Heredodegenerative Disorders 3250
              motor peripheral neuropathy 1201
                Charcot-Marie-Tooth disease 659
                  Charcot-Marie-Tooth disease type 2 258
                    Charcot-Marie-Tooth Disease, Type 2A 5
                      Charcot-Marie-Tooth disease type 2A1 2
paths to the root