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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 2L
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Accession:DOID:0110174 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, TYPE 2L;   CMT2L;   autosomal dominant Charcot-Marie-Tooth disease type 2L;   axonal Charcot-Marie-Tooth disease, autosomal dominant, type 2L;   axonal Charcot-Marie-Tooth neuropathy, type 2L
 primary_id: OMIM:608673
 alt_id: RDO:0009229
 xref: ORDO:99945
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease axonal type 2L term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by OMIM:608673
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2L
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2L
OMIM
ClinVar
PMID:15021985 PMID:15122253 PMID:15565283 PMID:20538880 PMID:21985219 PMID:25741868 PMID:26467025 PMID:26718575 PMID:26986878 PMID:28251916 PMID:28492532 NCBI chr12:45,905,371...45,920,014
Ensembl chr12:45,905,371...45,920,013
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      musculoskeletal system disease 5736
        neuromuscular disease 1763
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth disease axonal type 2L 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        central nervous system disease 9061
          neurodegenerative disease 3215
            Nervous System Heredodegenerative Disorders 1912
              motor peripheral neuropathy 523
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth disease axonal type 2L 1
paths to the root