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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 4G
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Accession:DOID:0110196 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22. (DO)
Synonyms:exact_synonym: Charcot-Marie-Tooth disease, autosomal recessive, type 4g;   Charcot-Marie-Tooth neuropathy type 4G;   Cmt4g;   HMSNR;   hereditary motor and sensory neuropathy Russe type
 primary_id: MESH:C535813
 alt_id: OMIM:605285
 xref: ORDO:99953


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Charcot-Marie-Tooth disease type 4G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4G | ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, Russe type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10915613 PMID:11601496 PMID:17576681 PMID:19536174 More... NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        neuromuscular disease 3059
          Charcot-Marie-Tooth disease 659
            Charcot-Marie-Tooth disease type 4 62
              Charcot-Marie-Tooth disease type 4G 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          neurodegenerative disease 4902
            Nervous System Heredodegenerative Disorders 3254
              motor peripheral neuropathy 1201
                Charcot-Marie-Tooth disease 659
                  Charcot-Marie-Tooth disease type 4 62
                    Charcot-Marie-Tooth disease type 4G 1
paths to the root