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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 type 4F
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Accession:DOID:0110193 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13. (DO)
Synonyms:exact_synonym: CMT4F;   Charcot-Marie-Tooth disease type 4F, demyelinating
 primary_id: OMIM:614895
 alt_id: RDO:9000225
 xref: ORDO:99952
For additional species annotation, visit the Alliance of Genome Resources.



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Charcot-Marie-Tooth disease type 4F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prx periaxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F OMIM
ClinVar
PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 PMID:15197604 More... NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      musculoskeletal system disease 7230
        neuromuscular disease 2223
          Charcot-Marie-Tooth disease 428
            Charcot-Marie-Tooth disease type 4 35
              Charcot-Marie-Tooth disease type 4F 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          neurodegenerative disease 3902
            Nervous System Heredodegenerative Disorders 2394
              motor peripheral neuropathy 683
                Charcot-Marie-Tooth disease 428
                  Charcot-Marie-Tooth disease type 4 35
                    Charcot-Marie-Tooth disease type 4F 1
paths to the root