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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 2I
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Accession:DOID:0110299 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 fukutin-related protein (FKRP) on chromosome 19q13.3. (DO)
Synonyms:exact_synonym: LGMD2I;   LGMDR9;   MDDGC5;   autosomal recessive limb-girdle muscular dystrophy 9;   limb-girdle muscular dystrophy due to FKRP deficiency;   limb-girdle muscular dystrophy, type 2I;   limb-girdle muscular dystrophy-dystroglycanopathy, FRKP-related;   limb-girdle muscular dystrophy-dystroglycanopathy, type C5;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
 primary_id: MESH:C564612
 alt_id: OMIM:607155
 xref: NCI:C126739;   ORDO:34515
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy type 2I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein treatment IAGP
IMP
DNA:deletion, missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 9
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
DNA:missense mutations: :1364C>A, 1486T>A (human)
DNA:missense mutations:exon:p.F70I (c.208T>A), p.G344C (c.1030G>T) (human)
DNA:duplications, missense mutations:exon:multiple
DNA:missense mutation: :pP89A (human)
DNA:missense mutation:exon:p.L276I (826C>A) (human)
DNA:deletion, missense mutations:exon:p.L319R (c.956T>G), p.P442L (c.1325C>T), c.1136delG (human)
ClinVar
OMIM
PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14523375 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833426 PMID:15833432 PMID:15886712 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17055682 PMID:17113772 PMID:17336067 PMID:17446099 PMID:17554798 PMID:17559086 PMID:17952692 PMID:17994539 PMID:18036232 PMID:18060779 PMID:18160674 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:18691338 PMID:18752264 PMID:18832576 PMID:19155270 PMID:19244252 PMID:19299310 PMID:19820980 PMID:19833706 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20623375 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21296577 PMID:21816046 PMID:22264518 PMID:22908982 PMID:22981120 PMID:22983245 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24139536 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25987458 PMID:26363967 PMID:26436962 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:26990548 PMID:27439679 PMID:27671536 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28454995 PMID:28492532 PMID:28688748 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30564623 PMID:31041397 PMID:31671740, PMID:11741828, PMID:25048216, PMID:18671187, PMID:21296577, PMID:16634037, PMID:17113772, PMID:15580560, PMID:17994539 RGD:1598944, RGD:11667961, RGD:11667963, RGD:11667964, RGD:11667965, RGD:11667966, RGD:11667967, RGD:11063285 NCBI chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G STRN4 striatin 4 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED ClinVar PMID:25741868 NCBI chr19:46,719,509...46,746,475
Ensembl chr19:46,719,511...46,746,994
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18966
    Developmental Diseases 12246
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10077
        genetic disease 9547
          monogenic disease 6962
            autosomal genetic disease 5863
              autosomal recessive disease 3116
                autosomal recessive limb-girdle muscular dystrophy 108
                  autosomal recessive limb-girdle muscular dystrophy type 2I 2
Path 2
Term Annotations click to browse term
  disease 18966
    disease of anatomical entity 17449
      nervous system disease 13511
        peripheral nervous system disease 2631
          neuropathy 2443
            neuromuscular disease 1938
              muscular disease 1271
                muscle tissue disease 868
                  myopathy 717
                    muscular dystrophy 343
                      limb-girdle muscular dystrophy 151
                        autosomal recessive limb-girdle muscular dystrophy 108
                          autosomal recessive limb-girdle muscular dystrophy type 2I 2
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