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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:autosomal recessive limb-girdle muscular dystrophy type 2N
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Accession:DOID:0110298 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. (DO)
Synonyms:exact_synonym: LGMD2N;   LGMDR14;   MDDGC2;   limb-girdle muscular dystrophy, autosomal recessive 14;   limb-girdle muscular dystrophy, type 2N;   limb-girdle muscular dystrophy-dystroglycanopathy, POMT2-related;   limb-girdle muscular dystrophy-dystroglycanopathy, type C2;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
 primary_id: OMIM:613158
 xref: ORDO:206559

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autosomal recessive limb-girdle muscular dystrophy type 2N term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2N | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 OMIM
ClinVar		 PMID:9536098 PMID:15894594 PMID:17559086 PMID:17576681 PMID:17634419 More... NCBI chrNW_004936488:6,102,612...6,141,842
Ensembl chrNW_004936488:6,102,524...6,141,875 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9605
            autosomal genetic disease 8889
              autosomal recessive disease 6216
                autosomal recessive limb-girdle muscular dystrophy 112
                  autosomal recessive limb-girdle muscular dystrophy type 2N 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        peripheral nervous system disease 3883
          neuropathy 3701
            neuromuscular disease 2898
              muscular disease 2042
                muscle tissue disease 1225
                  myopathy 949
                    muscular dystrophy 574
                      limb-girdle muscular dystrophy 193
                        autosomal recessive limb-girdle muscular dystrophy 112
                          autosomal recessive limb-girdle muscular dystrophy type 2N 1
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