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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
 alt_id: RDO:9000406
 xref: ORDO:391351
For additional species annotation, visit the Alliance of Genome Resources.


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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 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4k ClinVar
OMIM
PMID:12515039, PMID:16542579, PMID:23829769, PMID:24027061, PMID:25741868, PMID:27896082, PMID:28492532 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      musculoskeletal system disease 5713
        neuromuscular disease 1774
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 4 34
              Charcot-Marie-Tooth disease type 4K 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          neurodegenerative disease 3188
            Nervous System Heredodegenerative Disorders 1949
              motor peripheral neuropathy 537
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 4 34
                    Charcot-Marie-Tooth disease type 4K 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.