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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 2X
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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: 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: ORDO:466775
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease axonal type 2X term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal type 2X OMIM
ClinVar
PMID:17322883 PMID:18079167 PMID:18332254 PMID:18663179 PMID:19105190 PMID:19438933 PMID:20110243 PMID:25299611 PMID:25741868 PMID:26467025 PMID:26556829 PMID:27217339 PMID:28492532 PMID:28554332 PMID:29246610 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        neuromuscular disease 1763
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth disease axonal type 2X 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          neurodegenerative disease 3216
            Nervous System Heredodegenerative Disorders 1915
              motor peripheral neuropathy 526
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth disease axonal type 2X 1
paths to the root