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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 E
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Accession:DOID:0110205 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS;   CMTDIE;   Charcot-Marie-Tooth disease-nephropathy syndrome;   autosomal dominant intermediate Charcot-Marie-Tooth disease type E
 primary_id: OMIM:614455
 alt_id: RDO:9000226
 xref: ORDO:93114
For additional species annotation, visit the Alliance of Genome Resources.



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Charcot-Marie-Tooth disease dominant intermediate E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by OMIM:614455
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate E
OMIM
ClinVar
PMID:6054293 PMID:22187985 PMID:22961558 PMID:25741868 PMID:28492532 More... NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      musculoskeletal system disease 6446
        neuromuscular disease 1875
          Charcot-Marie-Tooth disease 327
            Charcot-Marie-Tooth disease intermediate type 190
              Charcot-Marie-Tooth disease dominant intermediate E 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          neurodegenerative disease 3518
            Nervous System Heredodegenerative Disorders 2128
              motor peripheral neuropathy 498
                Charcot-Marie-Tooth disease 327
                  Charcot-Marie-Tooth disease intermediate type 190
                    Charcot-Marie-Tooth disease dominant intermediate E 1
paths to the root