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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 2O
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Accession:DOID:0110292 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. (DO)
Synonyms:exact_synonym: LGMD2O;   LGMDR15;   MDDGC3;   autosomal recessive limb-girdle muscular dystrophy 15;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C3;   muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
 primary_id: OMIM:613157
 xref: ORDO:206564
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy type 2O term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by OMIM:613157
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
OMIM
ClinVar
PMID:11709191, PMID:12588800, PMID:15236414, PMID:15466003, PMID:16427280, PMID:17030669, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:18195152, PMID:18330676, PMID:18691338, PMID:19067344, PMID:19299310, PMID:19679478, PMID:20215985, PMID:20816175, PMID:20981092, PMID:21228398, PMID:21361872, PMID:21447391, PMID:21727005, PMID:22323514, PMID:22419172, PMID:22522420, PMID:22554691, PMID:22995991, PMID:23326386, PMID:23689641, PMID:24033266, PMID:24123366, PMID:24282183, PMID:24731844, PMID:24733390, PMID:25326635, PMID:25333069, PMID:25390965, PMID:25525159, PMID:25741868, PMID:26013959, PMID:26467025, PMID:26908613, PMID:26938784, PMID:27391550, PMID:27884173, PMID:28424332, PMID:28492532, PMID:28688748, PMID:28832562, PMID:30311386, PMID:30937090, PMID:30961548 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
ClinVar PMID:11709191, PMID:12588800, PMID:15236414, PMID:15466003, PMID:16427280, PMID:17030669, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:18195152, PMID:18330676, PMID:18691338, PMID:19067344, PMID:19299310, PMID:19679478, PMID:20215985, PMID:20816175, PMID:20981092, PMID:21228398, PMID:21361872, PMID:21447391, PMID:21727005, PMID:22323514, PMID:22522420, PMID:22554691, PMID:22995991, PMID:23326386, PMID:23689641, PMID:24033266, PMID:24123366, PMID:24282183, PMID:24731844, PMID:24733390, PMID:25326635, PMID:25333069, PMID:25390965, PMID:25525159, PMID:25741868, PMID:26013959, PMID:26467025, PMID:26908613, PMID:26938784, PMID:27391550, PMID:27884173, PMID:28424332, PMID:28492532, PMID:28688748, PMID:28832562, PMID:30311386, PMID:30937090, PMID:30961548 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16042
    Developmental Diseases 9538
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8372
        genetic disease 7872
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                autosomal recessive limb-girdle muscular dystrophy 107
                  autosomal recessive limb-girdle muscular dystrophy type 2O 2
Path 2
Term Annotations click to browse term
  disease 16042
    disease of anatomical entity 15294
      nervous system disease 10900
        peripheral nervous system disease 2500
          neuropathy 2321
            neuromuscular disease 1805
              muscular disease 1222
                muscle tissue disease 829
                  myopathy 685
                    muscular dystrophy 331
                      limb-girdle muscular dystrophy 149
                        autosomal recessive limb-girdle muscular dystrophy 107
                          autosomal recessive limb-girdle muscular dystrophy type 2O 2
paths to the root

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