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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, demyelinating, type 4F
 broad_synonym: PRX-RELATED CONDITION
 xref: MIM:614895;   MONDO:0013959;   ORDO:99952


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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 Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:91,949,465...91,971,834
Ensembl chr 1:91,949,467...91,961,207 		JBrowse link
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 | ClinVar Annotator: match by term: PRX-related condition OMIM
ClinVar		 PMID:2758284 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 More... NCBI chr 1:91,912,669...91,934,754
Ensembl chr 1:91,911,999...91,937,235 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        neuromuscular disease 3236
          Charcot-Marie-Tooth disease 730
            Charcot-Marie-Tooth disease type 4 63
              Charcot-Marie-Tooth disease type 4F 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          neurodegenerative disease 5086
            Nervous System Heredodegenerative Disorders 3381
              motor peripheral neuropathy 1307
                Charcot-Marie-Tooth disease 730
                  Charcot-Marie-Tooth disease type 4 63
                    Charcot-Marie-Tooth disease type 4F 2
paths to the root