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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 dominant intermediate F
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Accession:DOID:0110206 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28. (DO)
Synonyms:exact_synonym: CMTDIF;   autosomal dominant intermediate Charcot-Marie-Tooth disease type F
 primary_id: OMIM:615185
 alt_id: RDO:9000227
 xref: ORDO:352670
For additional species annotation, visit the Alliance of Genome Resources.



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Charcot-Marie-Tooth disease dominant intermediate F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate F OMIM
ClinVar
PMID:23434117 PMID:25741868 PMID:27549087 PMID:27908631 PMID:28492532 More... NCBI chr 2:115,360,746...115,400,680
Ensembl chr 2:115,364,918...115,400,579
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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 intermediate type 191
              Charcot-Marie-Tooth disease dominant intermediate F 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 intermediate type 191
                    Charcot-Marie-Tooth disease dominant intermediate F 1
paths to the root