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myofibrillar myopathy 3 - Ontology Report - Rat Genome Database

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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 MYOT gene on chromosome 5q31. (DO)
Synonyms:exact_synonym: LGMD 1A;   LGMD1;   LGMD1A;   MFM3;   autosomal dominant limb-girdle muscular dystrophy type 1A;   autosomal dominant spheroid body myopathy;   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;   spheroid body myopathy
 narrow_synonym: URINARY BLADDER SPHINCTER DYSFUNCTION
 alt_id: DOID:0080091;   DOID:0110300
 xref: GARD:10229;   GARD:8711;   MESH:C000598645;   MESH:C535906;   MESH:C563775;   MIM:609200;   MONDO:0012215;   ORDO:266;   ORDO:268129

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show annotations for term's descendants           Sort by:
myofibrillar myopathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC129994721 ATAC-STARR-seq lymphoblastoid active region 23188 IAGP ClinVar Annotator: match by term: Myofibrillar myopathy 3 ClinVar PMID:18321925 PMID:39757377 NCBI chr 5:137,858,333...137,858,412 JBrowse link
G H LOC129994722 ATAC-STARR-seq lymphoblastoid active region 23189 IAGP ClinVar Annotator: match by term: Myofibrillar myopathy 3 ClinVar PMID:18321925 PMID:39757377 NCBI chr 5:137,858,443...137,858,492 JBrowse link
G N Myot myotilin ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction OMIM
ClinVar		 PMID:571956 PMID:1598902 PMID:3275904 PMID:9027924 PMID:9536098 More... NCBI chrNW_004624733:9,131,051...9,160,813
Ensembl chrNW_004624733:9,130,399...9,160,908 		JBrowse link
G G MYOT myotilin ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction OMIM
ClinVar		 PMID:571956 PMID:1598902 PMID:3275904 PMID:9027924 PMID:9536098 More... NCBI chr23:40,542,153...40,567,873
Ensembl chr23:40,548,100...40,568,217 		JBrowse link
G P MYOT myotilin ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction OMIM
ClinVar		 PMID:571956 PMID:1598902 PMID:3275904 PMID:9027924 PMID:9536098 More... NCBI chr 2:139,899,245...139,919,095
Ensembl chr 2:139,861,004...139,919,089 		JBrowse link
G S Myot myotilin ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction OMIM
ClinVar		 PMID:571956 PMID:1598902 PMID:3275904 PMID:9027924 PMID:9536098 More... NCBI chrNW_004936597:4,830,111...4,847,409
Ensembl chrNW_004936597:4,830,027...4,847,421 		JBrowse link
G D MYOT myotilin ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction OMIM
ClinVar		 PMID:571956 PMID:1598902 PMID:3275904 PMID:9027924 PMID:9536098 More... NCBI chr11:25,574,087...25,592,767
Ensembl chr11:25,564,136...25,592,339 		JBrowse link
G B MYOT myotilin ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction OMIM
ClinVar		 PMID:571956 PMID:1598902 PMID:3275904 PMID:9027924 PMID:9536098 More... NCBI chr 5:133,254,644...133,274,615
Ensembl chr 5:139,386,101...139,411,960 		JBrowse link
G C Myot myotilin ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction OMIM
ClinVar		 PMID:571956 PMID:1598902 PMID:3275904 PMID:9027924 PMID:9536098 More... NCBI chrNW_004955408:32,816,133...32,835,230
Ensembl chrNW_004955408:32,790,095...32,838,258 		JBrowse link
G R Myot myotilin ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:571956 PMID:1598902 PMID:3275904 PMID:9027924 PMID:9536098 More... NCBI chr18:36,956,119...36,975,728
Ensembl chr18:36,705,314...36,724,841 		JBrowse link
G M Myot myotilin ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:571956 PMID:1598902 PMID:3275904 PMID:9027924 PMID:9536098 More... NCBI chr18:44,467,126...44,488,795
Ensembl chr18:44,467,141...44,488,791 		JBrowse link
G H MYOT myotilin IAGP
EXP		 ClinVar Annotator: match by term: Myofibrillar myopathy 3
ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:571956 PMID:1598902 PMID:3275904 PMID:9027924 PMID:9536098 More... NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
G N Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 ClinVar PMID:18321925 PMID:39757377 NCBI chrNW_004624743:30,743,052...30,770,985
Ensembl chrNW_004624743:30,743,052...30,771,305 		JBrowse link
G G PKD2L2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 ClinVar PMID:18321925 PMID:39757377 NCBI chr23:40,569,225...40,611,967
Ensembl chr23:40,569,281...40,611,884 		JBrowse link
G P PKD2L2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 ClinVar PMID:18321925 PMID:39757377 NCBI chr 2:139,920,552...139,956,509
Ensembl chr 2:139,920,583...139,956,432 		JBrowse link
G S Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 ClinVar PMID:18321925 PMID:39757377 NCBI chrNW_004936531:7,115,718...7,152,010
Ensembl chrNW_004936531:7,115,718...7,148,359 		JBrowse link
G D PKD2L2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 ClinVar PMID:18321925 PMID:39757377 NCBI chr11:25,594,327...25,628,262
Ensembl chr11:25,594,394...25,628,509 		JBrowse link
G B PKD2L2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 ClinVar PMID:18321925 PMID:39757377 NCBI chr 5:133,276,223...133,329,712
Ensembl chr 5:139,416,606...139,459,732 		JBrowse link
G C Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 ClinVar PMID:18321925 PMID:39757377 NCBI chrNW_004955418:2,443,557...2,488,860
Ensembl chrNW_004955418:2,439,773...2,488,916 		JBrowse link
G R Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 ClinVar PMID:18321925 PMID:39757377 NCBI chr18:26,007,789...26,042,428
Ensembl chr18:26,007,797...26,042,428 		JBrowse link
G M Pkd2l2 polycystic kidney disease 2-like 2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 ClinVar PMID:18321925 PMID:39757377 NCBI chr18:34,541,553...34,575,842
Ensembl chr18:34,541,542...34,577,169 		JBrowse link
G H PKD2L2 polycystin 2 like 2, transient receptor potential cation channel IAGP ClinVar Annotator: match by term: Myofibrillar myopathy 3 ClinVar PMID:18321925 PMID:39757377 NCBI chr 5:137,889,457...137,942,747
Ensembl chr 5:137,887,968...137,942,747 		JBrowse link
G H PKD2L2-DT PKD2L2 divergent transcript IAGP ClinVar Annotator: match by term: Myofibrillar myopathy 3
ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction		 ClinVar PMID:571956 PMID:1598902 PMID:3275904 PMID:9027924 PMID:9536098 More... NCBI chr 5:137,853,811...137,889,319 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      congenital structural myopathy 1498
        myofibrillar myopathy 693
          myofibrillar myopathy 3 23
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        peripheral nervous system disease 45985
          neuropathy 43737
            neuromuscular disease 33680
              muscular disease 23373
                muscle tissue disease 14455
                  myopathy 10826
                    muscular dystrophy 6687
                      limb-girdle muscular dystrophy 2384
                        autosomal dominant limb-girdle muscular dystrophy 197
                          myofibrillar myopathy 3 23
paths to the root