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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 1C
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Accession:DOID:0110151 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, TYPE IC;   CMT, slow nerve conduction type C;   CMT1C;   Charcot-Marie-Tooth disease, demyelinating, type 1C;   Charcot-Marie-Tooth neuropathy, type 1C;   HMSN IC;   HMSN1C;   HMSNIC;   hereditary motor and sensory neuropathy type 1C;   hereditary motor and sensory neuropathy type IC
 primary_id: MESH:C537984
 alt_id: OMIM:601098
 xref: ORDO:101083
For additional species annotation, visit the Alliance of Genome Resources.

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Charcot-Marie-Tooth disease type 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by OMIM:601098
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1C
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IC
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IC		 OMIM
ClinVar		 PMID:1407588 PMID:1678513 PMID:2239969 PMID:12525712 PMID:15122712 PMID:15776420 PMID:15776429 PMID:15786462 PMID:16118794 PMID:16373087 PMID:16787513 PMID:19541485 PMID:23319192 PMID:23576546 PMID:24604904 PMID:24844793 PMID:24880540 PMID:25058650 PMID:25342198 PMID:25614874 PMID:25741868 PMID:25963657 PMID:26392352 PMID:26467025 PMID:27549087 PMID:28211240 PMID:28492532 PMID:30311386 NCBI chr10:4,753,546...4,763,272
Ensembl chr10:4,719,713...4,763,510 		JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, Type 1C ClinVar PMID:12481988 PMID:15111691 PMID:16452125 PMID:19286384 PMID:21168446 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        neuromuscular disease 1802
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 1 26
              Charcot-Marie-Tooth disease type 1C 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          neurodegenerative disease 3235
            Nervous System Heredodegenerative Disorders 1952
              motor peripheral neuropathy 536
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 1 26
                    Charcot-Marie-Tooth disease type 1C 2
paths to the root