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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 OMIM
ClinVar
PMID:25152455 PMID:26302975 PMID:28492532 NCBI chr12:41,261,983...41,265,037
Ensembl chr12:41,261,967...41,265,041
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      musculoskeletal system disease 7162
        neuromuscular disease 2199
          Charcot-Marie-Tooth disease 427
            Charcot-Marie-Tooth disease intermediate type 191
              Charcot-Marie-Tooth disease recessive intermediate D 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          neurodegenerative disease 3879
            Nervous System Heredodegenerative Disorders 2374
              motor peripheral neuropathy 678
                Charcot-Marie-Tooth disease 427
                  Charcot-Marie-Tooth disease intermediate type 191
                    Charcot-Marie-Tooth disease recessive intermediate D 1
paths to the root