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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:myofibrillar myopathy 3
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Accession:DOID:0080094 term browser browse the term
Definition:A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the TTID gene on chromosome 5q31. (DO)
Synonyms:exact_synonym: LGMD1;   LGMD1A;   MFM3;   autosomal dominant limb-girdle muscular dystrophy type 1A;   limb-girdle muscular dystrophy due to myotilin deficiency;   muscular dystrophy limb-girdle type 1A;   muscular dystrophy, limb-girdle, type1A;   muscular dystrophy, proximal, type 1A;   myofibrillar myopathy, myotilin-related;   myotilinopathy
 narrow_synonym: URINARY BLADDER SPHINCTER DYSFUNCTION
 primary_id: MESH:C535906;   MESH:C563775
 alt_id: DOID:0110300;   OMIM:609200;   RDO:0001273;   RDO:0012947
 xref: ORDO:266
For additional species annotation, visit the Alliance of Genome Resources.


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myofibrillar myopathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myot myotilin ISO ClinVar Annotator: match by OMIM:609200
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myotilinopathy
ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction
ClinVar Annotator: match by term: Myofibrillar myopathy 3
ClinVar
OMIM
CTD
PMID:1598902 PMID:3275904 PMID:9027924 PMID:9536098 PMID:10958653 PMID:12428213 PMID:15111675 PMID:15947064 PMID:16684602 PMID:16793270 PMID:16801328 PMID:17221859 PMID:17576681 PMID:18335471 PMID:18653338 PMID:19225410 PMID:19240791 PMID:19590214 PMID:20981092 PMID:21336781 PMID:21361873 PMID:21676617 PMID:22021208 PMID:22349301 PMID:22995991 PMID:24033266 PMID:24781192 PMID:24928145 PMID:25208129 PMID:25617006 PMID:25741868 PMID:26257771 PMID:26342832 PMID:26467025 PMID:26842778 PMID:27854214 PMID:27884173 PMID:28166811 PMID:28492532 PMID:30055862 PMID:31404076 NCBI chr18:35,573,978...35,593,541
Ensembl chr18:35,574,002...35,593,541
Ensembl chr 9:35,574,002...35,593,541
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    physical disorder 2958
      congenital structural myopathy 156
        myofibrillar myopathy 57
          myofibrillar myopathy 3 1
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
                  atrophic muscular disease 317
                    muscular dystrophy 315
                      limb-girdle muscular dystrophy 147
                        autosomal dominant limb-girdle muscular dystrophy 8
                          myofibrillar myopathy 3 1
paths to the root