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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 2K
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Accession:DOID:0110297 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 gene encoding protein O-mannosyltransferase (POMT1). (DO)
Synonyms:exact_synonym: LGMD2K;   LGMDR11;   MDDGC1;   POMT1-related muscle-eye-brain disease;   POMT1-related muscle-eye-brain diseases;   Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related;   autosomal recessive limb-girdle muscular dystrophy 11;   limb-girdle muscular dystrophy, type 2K;   limb-girdle muscular dystrophy-dystroglycanopathy, type C1;   limb-girdle muscular dystrophy-intellectual disability syndrome;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
 primary_id: OMIM:609308
 xref: NCI:C133730;   ORDO:86812
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy type 2K term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
JBrowse link
G AIF1L allograft inflammatory factor 1 like ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,218,242...102,244,846
Ensembl chr 9:130,863,031...130,891,744
JBrowse link
G EXOSC2 exosome component 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:101,815,368...101,826,464
Ensembl chr 9:130,464,487...130,475,719
JBrowse link
G FAM78A family with sequence similarity 78 member A ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,380,073...102,399,992
Ensembl chr 9:131,024,410...131,042,975
JBrowse link
G FIBCD1 fibrinogen C domain containing 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,018,681...102,058,898
Ensembl chr 9:130,668,147...130,695,731
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED ClinVar PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28492532 NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
JBrowse link
G LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,131,594...102,213,829
Ensembl chr 9:130,777,182...130,861,292
JBrowse link
G NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,246,575...102,355,291
Ensembl chr 9:130,893,110...131,001,305
JBrowse link
G PLPP7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,411,095...102,431,146
Ensembl chr 9:131,055,406...131,073,474
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO OMIM NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
JBrowse link
G PRDM12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:101,786,052...101,803,287 JBrowse link
G PRRC2B proline rich coiled-coil 2B ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,516,585...102,622,588
Ensembl chr 9:131,193,641...131,262,894
JBrowse link
G QRFP pyroglutamylated RFamide peptide ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,008,900...102,013,194
Ensembl chr 9:130,659,140...130,659,550
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13605
    Developmental Disease 10021
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8345
        genetic disease 7901
          monogenic disease 6091
            autosomal genetic disease 5280
              autosomal recessive disease 3100
                autosomal recessive limb-girdle muscular dystrophy 102
                  autosomal recessive limb-girdle muscular dystrophy type 2K 13
Path 2
Term Annotations click to browse term
  disease 13605
    disease of anatomical entity 13266
      nervous system disease 10957
        peripheral nervous system disease 2289
          neuropathy 2125
            neuromuscular disease 1696
              muscular disease 1121
                muscle tissue disease 757
                  myopathy 596
                    muscular dystrophy 290
                      limb-girdle muscular dystrophy 140
                        autosomal recessive limb-girdle muscular dystrophy 102
                          autosomal recessive limb-girdle muscular dystrophy type 2K 13
paths to the root