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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 2H
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Accession:DOID:0110282 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q. (DO)
Synonyms:exact_synonym: LGMD2H;   LGMDR8;   limb-girdle muscular dystrophy due to TRIM32 deficiency;   limb-girdle muscular dystrophy type 2H;   muscular dystrophy Hutterite type;   sarcotubular myopathy
 broad_synonym: TRIM32-RELATED CONDITION
 xref: GARD:3844;   MESH:C535897;   MONDO:0009683;   OMIM:254110;   ORDO:1878


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autosomal recessive limb-girdle muscular dystrophy type 2H term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Astn2 astrotactin 2 ISO ClinVar Annotator: match by term: Muscular dystrophy Hutterite type | ClinVar Annotator: match by term: Sarcotubular myopathy | ClinVar Annotator: match by term: TRIM32-related condition ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273 		JBrowse link
G Trim32 tripartite motif-containing 32 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:254110
ClinVar Annotator: match by term: Muscular dystrophy Hutterite type | ClinVar Annotator: match by term: Sarcotubular myopathy | ClinVar Annotator: match by term: TRIM32-related condition		 OMIM
CTD
MouseDO
ClinVar		 PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 5:79,005,139...79,016,615
Ensembl chr 5:78,999,389...79,022,018 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    Developmental Disease 14384
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13389
        genetic disease 13005
          monogenic disease 10428
            autosomal genetic disease 9587
              autosomal recessive disease 6667
                autosomal recessive limb-girdle muscular dystrophy 116
                  autosomal recessive limb-girdle muscular dystrophy type 2H 2
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        peripheral nervous system disease 4131
          neuropathy 3914
            neuromuscular disease 3064
              muscular disease 2153
                muscle tissue disease 1300
                  myopathy 1015
                    muscular dystrophy 607
                      limb-girdle muscular dystrophy 201
                        autosomal recessive limb-girdle muscular dystrophy 116
                          autosomal recessive limb-girdle muscular dystrophy type 2H 2
paths to the root