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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 4K
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Accession:DOID:0110187 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 SURF1 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K;   CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K;   CMT4K;   SURF1-related CMT4;   SURF1-related Charcot-Marie-Tooth disease type 4;   SURF1-related severe demyelinating Charcot-Marie-Tooth disease
 primary_id: OMIM:616684
 xref: ORDO:391351


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Charcot-Marie-Tooth disease type 4K term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP
EXP		 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:10443880 PMID:12026244 PMID:12515039 PMID:12943968 PMID:16326995 More... NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11642
        neuromuscular disease 4041
          Charcot-Marie-Tooth disease 875
            Charcot-Marie-Tooth disease type 4 89
              Charcot-Marie-Tooth disease type 4K 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          neurodegenerative disease 6568
            Nervous System Heredodegenerative Disorders 4549
              motor peripheral neuropathy 1566
                Charcot-Marie-Tooth disease 875
                  Charcot-Marie-Tooth disease type 4 89
                    Charcot-Marie-Tooth disease type 4K 1
paths to the root