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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 4H
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Accession:DOID:0110192 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4). (DO)
Synonyms:exact_synonym: CMT4H;   Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4H;   Charcot-Marie-Tooth Neuropathy, Type 4H;   autosomal recessive Charcot-Marie-Tooth disease type 4H
 primary_id: MESH:C563740
 alt_id: OMIM:609311
 xref: ORDO:99954


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Charcot-Marie-Tooth disease type 4H term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4H | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4H OMIM
ClinVar		 PMID:9536098 PMID:15744041 PMID:17564959 PMID:17564972 PMID:17576681 More... NCBI chr 5:41,683,265...41,879,197
Ensembl chr 5:41,680,452...41,879,062 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      musculoskeletal system disease 7668
        neuromuscular disease 2980
          Charcot-Marie-Tooth disease 647
            Charcot-Marie-Tooth disease type 4 61
              Charcot-Marie-Tooth disease type 4H 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        central nervous system disease 11610
          neurodegenerative disease 4657
            Nervous System Heredodegenerative Disorders 3193
              motor peripheral neuropathy 1185
                Charcot-Marie-Tooth disease 647
                  Charcot-Marie-Tooth disease type 4 61
                    Charcot-Marie-Tooth disease type 4H 1
paths to the root