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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;   RDO:0012924
 xref: ORDO:99954
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:609311
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4H
OMIM
ClinVar
PMID:15744041, PMID:17564959, PMID:17564972, PMID:19221294, PMID:19332693, PMID:22734899, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr11:88,699,222...88,796,677
Ensembl chr11:88,699,222...88,796,677
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        neuromuscular disease 1805
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 4 34
              Charcot-Marie-Tooth disease type 4H 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          neurodegenerative disease 3201
            Nervous System Heredodegenerative Disorders 1954
              motor peripheral neuropathy 535
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 4 34
                    Charcot-Marie-Tooth disease type 4H 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.