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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 23
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Accession:DOID:9008732 term browser browse the term
Definition:A disease characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties. Additional features include white matter abnormalities on brain imaging, increased serum creatine kinase, and dystrophic features.
Synonyms:exact_synonym: Autosomal Recessive Limb-Girdle Muscular Dystrophy 23;   LGMDR23
 primary_id: OMIM:618138
For additional species annotation, visit the Alliance of Genome Resources.


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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23
ClinVar
OMIM
PMID:9158149 PMID:21953594 PMID:22166137 PMID:24957499 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27353517 PMID:27854218 PMID:28492532 NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
JBrowse link
G Trappc11 trafficking protein particle complex subunit 11 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 ClinVar PMID:23830518 PMID:25741868 PMID:28492532 PMID:29158550 PMID:31575891 NCBI chr16:47,874,993...47,920,822
Ensembl chr16:47,874,993...47,920,823
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          monogenic disease 6338
            autosomal genetic disease 5493
              autosomal recessive disease 3229
                autosomal recessive limb-girdle muscular dystrophy 106
                  Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 2
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        peripheral nervous system disease 2421
          neuropathy 2233
            neuromuscular disease 1780
              muscular disease 1191
                muscle tissue disease 814
                  myopathy 650
                    muscular dystrophy 315
                      limb-girdle muscular dystrophy 147
                        autosomal recessive limb-girdle muscular dystrophy 106
                          Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 2
paths to the root