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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 2U
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Accession:DOID:0110173 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U;   CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2U;   CMT2U;   MARS-RELATED DISORDER;   autosomal dominant Charcot-Marie-Tooth disease type 2U
 primary_id: OMIM:616280
 alt_id: RDO:9001126
 xref: ORDO:397735
For additional species annotation, visit the Alliance of Genome Resources.



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Charcot-Marie-Tooth disease axonal type 2U term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2u
ClinVar Annotator: match by term: MARS-Related Disorder
OMIM
ClinVar
PMID:23729695 PMID:24103465 PMID:24354524 PMID:25741868 PMID:28492532 More... NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        neuromuscular disease 1879
          Charcot-Marie-Tooth disease 329
            Charcot-Marie-Tooth disease type 2 65
              Charcot-Marie-Tooth disease axonal type 2U 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          neurodegenerative disease 3521
            Nervous System Heredodegenerative Disorders 2133
              motor peripheral neuropathy 502
                Charcot-Marie-Tooth disease 329
                  Charcot-Marie-Tooth disease type 2 65
                    Charcot-Marie-Tooth disease axonal type 2U 1
paths to the root