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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 OMIM:614895
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: Charcot-Marie-Tooth disease, demyelinating, type 4F		 OMIM
ClinVar		 PMID:10848494 PMID:11133365 PMID:11157804 PMID:12112076 PMID:15197604 PMID:15469949 PMID:16534116 PMID:16770524 PMID:18504680 PMID:19837996 PMID:21079185 PMID:21741241 PMID:22847150 PMID:24011642 PMID:24033266 PMID:24078732 PMID:24627108 PMID:24969084 PMID:25025039 PMID:25164601 PMID:25188385 PMID:25326635 PMID:25326637 PMID:25614874 PMID:25741868 PMID:26059842 PMID:26257172 PMID:26392352 PMID:26467025 PMID:27104957 PMID:28492532 PMID:31372974 PMID:31523542 PMID:32214227 NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        neuromuscular disease 1776
          Charcot-Marie-Tooth disease 326
            Charcot-Marie-Tooth disease type 4 34
              Charcot-Marie-Tooth disease type 4F 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          neurodegenerative disease 3342
            Nervous System Heredodegenerative Disorders 1977
              motor peripheral neuropathy 480
                Charcot-Marie-Tooth disease 326
                  Charcot-Marie-Tooth disease type 4 34
                    Charcot-Marie-Tooth disease type 4F 1
paths to the root