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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 axonal type 2S
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Accession:DOID:0110171 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 IGHMBP2 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S;   CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S;   CMT2S;   Charcot-Marie-Tooth disease type 2S;   autosomal recessive axonal Charcot-Marie-Tooth type 2S
 primary_id: OMIM:616155
 alt_id: RDO:9001125
 xref: ORDO:443073
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      musculoskeletal system disease 7308
        neuromuscular disease 2237
          Charcot-Marie-Tooth disease 431
            Charcot-Marie-Tooth disease type 2 166
              Charcot-Marie-Tooth disease axonal type 2S 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          neurodegenerative disease 3944
            Nervous System Heredodegenerative Disorders 2430
              motor peripheral neuropathy 708
                Charcot-Marie-Tooth disease 431
                  Charcot-Marie-Tooth disease type 2 166
                    Charcot-Marie-Tooth disease axonal type 2S 1
paths to the root