Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 axonal type 2X
go back to main search page
Accession:DOID:0110176 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21. (DO)
Synonyms:exact_synonym: Autosomal recessive Charcot Marie Tooth disease type 2X;   CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2X;   CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X;   CMT2X
 primary_id: OMIM:616668
 alt_id: RDO:9000409
 xref: EFO:1001983;   ORDO:466775



show annotations for term's descendants           Sort by:

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18006
    disease of anatomical entity 15252
      musculoskeletal system disease 7787
        neuromuscular disease 3015
          Charcot-Marie-Tooth disease 667
            Charcot-Marie-Tooth disease type 2 259
              Charcot-Marie-Tooth disease axonal type 2X 1
Path 2
Term Annotations click to browse term
  disease 18006
    disease of anatomical entity 15252
      nervous system disease 13275
        central nervous system disease 11900
          neurodegenerative disease 4715
            Nervous System Heredodegenerative Disorders 3249
              motor peripheral neuropathy 1214
                Charcot-Marie-Tooth disease 667
                  Charcot-Marie-Tooth disease type 2 259
                    Charcot-Marie-Tooth disease axonal type 2X 1
paths to the root