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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 2V
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Accession:DOID:0110178 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V;   CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V;   CMT2V;   Charcot-Marie-Tooth disease type 2V;   autosomal dominant Charcot-Marie-Tooth disease type 2V
 broad_synonym: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2
 primary_id: OMIM:616491
 alt_id: RDO:9001389
 xref: ORDO:447964


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Charcot-Marie-Tooth disease axonal type 2V term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAGLU N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2V OMIM
ClinVar		 PMID:8650226 PMID:9443875 PMID:9443878 PMID:9832037 PMID:9950362 More... NCBI chr 9:20,407,296...20,414,094
Ensembl chr 9:20,407,281...20,414,056 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      musculoskeletal system disease 7742
        neuromuscular disease 3017
          Charcot-Marie-Tooth disease 645
            Charcot-Marie-Tooth disease type 2 254
              Charcot-Marie-Tooth disease axonal type 2V 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        central nervous system disease 11844
          neurodegenerative disease 4712
            Nervous System Heredodegenerative Disorders 3233
              motor peripheral neuropathy 1186
                Charcot-Marie-Tooth disease 645
                  Charcot-Marie-Tooth disease type 2 254
                    Charcot-Marie-Tooth disease axonal type 2V 1
paths to the root