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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 recessive intermediate D
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Accession:DOID:0110203 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. (DO)
Synonyms:exact_synonym: CMTRID;   RI-CMT type D;   autosomal recessive intermediate Charcot-Marie-Tooth disease D;   autosomal recessive intermediate Charcot-Marie-Tooth disease type D
 primary_id: OMIM:616039
 alt_id: RDO:9001391
 xref: ORDO:435998
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease recessive intermediate D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox6a1 cytochrome c oxidase subunit 6A1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, recessive intermediate d ClinVar
OMIM
PMID:25152455, PMID:26302975 NCBI chr12:47,024,442...47,027,495
Ensembl chr12:47,024,442...47,027,495
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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 intermediate type 188
              Charcot-Marie-Tooth disease recessive intermediate D 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 intermediate type 188
                    Charcot-Marie-Tooth disease recessive intermediate D 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.