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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 2II
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Accession:DOID:9000899 term browser browse the term
Definition:An autosomal dominant neurologic disorder characterized by a slowly progressive sensorimotor peripheral neuropathy affecting mainly the lower limbs, resulting in distal muscle weakness and atrophy and subsequent walking difficulties. Caused by heterozygous mutation in the SLC12A6 gene on chromosome 15q13.
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2II;   CMT2II;   SLC12A6-RELATED CONDITION
 primary_id: MIM:620068


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Charcot-Marie-Tooth Disease Axonal Type 2II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2II | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2II | ClinVar Annotator: match by term: SLC12A6-related condition OMIM
ClinVar		 PMID:9536098 PMID:12368912 PMID:12838516 PMID:16606917 PMID:17576681 More... NCBI chr 3:119,525,521...119,624,655
Ensembl chr 3:99,071,391...99,170,258 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      musculoskeletal system disease 8462
        neuromuscular disease 3226
          Charcot-Marie-Tooth disease 729
            Charcot-Marie-Tooth disease type 2 319
              Charcot-Marie-Tooth Disease Axonal Type 2II 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          neurodegenerative disease 5077
            Nervous System Heredodegenerative Disorders 3370
              motor peripheral neuropathy 1303
                Charcot-Marie-Tooth disease 729
                  Charcot-Marie-Tooth disease type 2 319
                    Charcot-Marie-Tooth Disease Axonal Type 2II 1
paths to the root