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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 axonal type 2F
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Accession:DOID:0110163 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1). (DO)
Synonyms:exact_synonym: CMT 2F;   CMT2F;   Charcot-Marie-Tooth disease type 2F;   Charcot-Marie-Tooth disease, neuronal, type 2F;   Charcot-Marie-Tooth neuronal type 2F;   Charcot-Marie-Tooth neuropathy, type 2F;   autosomal dominant Charcot-Marie-Tooth disease type 2F
 broad_synonym: HSPB1-related disorder
 primary_id: MESH:C535413
 alt_id: OMIM:606595
 xref: ORDO:99940
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease axonal type 2F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by OMIM:606595
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F
OMIM
ClinVar
PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 PMID:16087758 PMID:16155736 PMID:16215937 PMID:17576681 PMID:17623484 PMID:17881652 PMID:18325928 PMID:18344398 PMID:18832141 PMID:20178975 PMID:20660910 PMID:20870250 PMID:21611841 PMID:21785432 PMID:21892769 PMID:21983720 PMID:22031878 PMID:22057845 PMID:22176143 PMID:22521462 PMID:22734906 PMID:23643870 PMID:23728742 PMID:23948568 PMID:23963299 PMID:24607769 PMID:25025039 PMID:25220807 PMID:25429913 PMID:25547330 PMID:25741868 PMID:25965061 PMID:26467025 PMID:26675522 PMID:26986878 PMID:26989944 PMID:27816334 PMID:27862672 PMID:28000086 PMID:28144995 PMID:28166811 PMID:28379183 PMID:28492532 PMID:28595321 PMID:28702508 PMID:28797631 PMID:28828227 PMID:29381233 PMID:29858556 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      musculoskeletal system disease 6400
        neuromuscular disease 1829
          Charcot-Marie-Tooth disease 327
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth disease axonal type 2F 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          neurodegenerative disease 3491
            Nervous System Heredodegenerative Disorders 2104
              motor peripheral neuropathy 493
                Charcot-Marie-Tooth disease 327
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth disease axonal type 2F 1
paths to the root