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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 1F
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Accession:DOID:0110149 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene. (DO)
Synonyms:exact_synonym: CMT 1F;   CMT1f;   Charcot-Marie-Tooth disease, demyelinating, type 1F;   Charcot-Marie-Tooth neuropathy, type 1F
 primary_id: MESH:C537987
 alt_id: OMIM:607734;   RDO:0003916
 xref: ORDO:101085
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease type 1F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefl neurofilament light ISO ClinVar Annotator: match by OMIM:607734
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f
OMIM
ClinVar
PMID:12477167, PMID:12566280, PMID:16930284, PMID:17052987, PMID:19158810, PMID:20039262, PMID:21840889, PMID:24078732, PMID:25448007, PMID:25552649, PMID:25741868, PMID:25741869, PMID:26645395, PMID:27206872, PMID:28492532, PMID:28501821, PMID:30311386 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        neuromuscular disease 1777
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 1 26
              Charcot-Marie-Tooth disease type 1F 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          neurodegenerative disease 3191
            Nervous System Heredodegenerative Disorders 1950
              motor peripheral neuropathy 536
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 1 26
                    Charcot-Marie-Tooth disease type 1F 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.