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Meester-Loeys syndrome - 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:Meester-Loeys syndrome
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Accession:DOID:0111861 term browser browse the term
Definition:A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28. (DO)
Synonyms:exact_synonym: MRLS
 broad_synonym: BGN-RELATED CONDITION
 primary_id: MIM:300989
 xref: NCI:C187989

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Meester-Loeys syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Meester-Loeys syndrome ClinVar PMID:27632686 NCBI chrNW_004624946:247,032...307,645
Ensembl chrNW_004624946:247,168...307,663 		JBrowse link
G G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Meester-Loeys syndrome ClinVar PMID:27632686 NCBI chr  X:127,966,366...128,013,900
Ensembl chr  X:127,966,492...128,013,901 		JBrowse link
G P ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Meester-Loeys syndrome ClinVar PMID:27632686 NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G S Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Meester-Loeys syndrome ClinVar PMID:27632686 NCBI chrNW_004936809:396,883...466,372
Ensembl chrNW_004936809:396,733...466,524 		JBrowse link
G D ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Meester-Loeys syndrome ClinVar PMID:27632686 NCBI chr  X:121,355,217...121,405,245
Ensembl chr  X:121,361,239...121,403,609 		JBrowse link
G B ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Meester-Loeys syndrome ClinVar PMID:27632686 NCBI chr  X:143,068,171...143,133,479
Ensembl chr  X:152,955,109...153,019,445 		JBrowse link
G C Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Meester-Loeys syndrome ClinVar PMID:27632686 NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471 		JBrowse link
G R Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Meester-Loeys syndrome ClinVar PMID:27632686 NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G M Atp2b3 ATPase, Ca++ transporting, plasma membrane 3 ISO ClinVar Annotator: match by term: Meester-Loeys syndrome ClinVar PMID:27632686 NCBI chr  X:72,546,356...72,632,267
Ensembl chr  X:72,546,692...72,614,611 		JBrowse link
G H ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP ClinVar Annotator: match by term: Meester-Loeys syndrome ClinVar PMID:27632686 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939 		JBrowse link
G N Bgn biglycan ISO ClinVar Annotator: match by term: BGN-related condition | ClinVar Annotator: match by term: Meester-Loeys syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17502576 PMID:17576681 PMID:25741868 More... NCBI chrNW_004624946:230,529...241,448
Ensembl chrNW_004624946:230,519...241,850 		JBrowse link
G G BGN biglycan ISO ClinVar Annotator: match by term: BGN-related condition | ClinVar Annotator: match by term: Meester-Loeys syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17502576 PMID:17576681 PMID:25741868 More... NCBI chr  X:127,926,018...127,940,485
Ensembl chr  X:127,926,009...127,941,164 		JBrowse link
G P BGN biglycan ISO ClinVar Annotator: match by term: BGN-related condition | ClinVar Annotator: match by term: Meester-Loeys syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17502576 PMID:17576681 PMID:25741868 More... NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		JBrowse link
G S Bgn biglycan ISO ClinVar Annotator: match by term: BGN-related condition | ClinVar Annotator: match by term: Meester-Loeys syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17502576 PMID:17576681 PMID:25741868 More... NCBI chrNW_004936809:375,589...389,718
Ensembl chrNW_004936809:375,543...389,756 		JBrowse link
G D BGN biglycan ISO ClinVar Annotator: match by term: BGN-related condition | ClinVar Annotator: match by term: Meester-Loeys syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17502576 PMID:17576681 PMID:25741868 More... NCBI chr  X:121,330,371...121,334,634
Ensembl chr  X:121,330,259...121,334,634 		JBrowse link
G B BGN biglycan ISO ClinVar Annotator: match by term: BGN-related condition | ClinVar Annotator: match by term: Meester-Loeys syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17502576 PMID:17576681 PMID:25741868 More... NCBI chr  X:143,045,298...143,059,892
Ensembl chr  X:152,931,608...152,946,292 		JBrowse link
G C Bgn biglycan ISO ClinVar Annotator: match by term: BGN-related condition | ClinVar Annotator: match by term: Meester-Loeys syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17502576 PMID:17576681 PMID:25741868 More... NCBI chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663 		JBrowse link
G R Bgn biglycan ISO ClinVar Annotator: match by term: BGN-related condition | ClinVar Annotator: match by term: Meester-Loeys syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17502576 PMID:17576681 PMID:25741868 More... NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
G M Bgn biglycan ISO ClinVar Annotator: match by term: BGN-related condition | ClinVar Annotator: match by term: Meester-Loeys syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17502576 PMID:17576681 PMID:25741868 More... NCBI chr  X:72,527,207...72,539,542
Ensembl chr  X:72,527,208...72,539,539 		JBrowse link
G H BGN biglycan IAGP ClinVar Annotator: match by term: Meester-Loeys syndrome
ClinVar Annotator: match by term: BGN-related condition | ClinVar Annotator: match by term: Meester-Loeys syndrome 		OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17502576 PMID:17576681 PMID:25741868 More... NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G H LOC130068823 ATAC-STARR-seq lymphoblastoid active region 30035 IAGP ClinVar Annotator: match by term: Meester-Loeys syndrome ClinVar PMID:27632686 NCBI chr  X:153,507,438...153,507,537 JBrowse link
G H LOC130068824 ATAC-STARR-seq lymphoblastoid active region 30036 IAGP ClinVar Annotator: match by term: Meester-Loeys syndrome ClinVar PMID:27632686 NCBI chr  X:153,507,618...153,507,667 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 292546
    syndrome 133709
      Meester-Loeys syndrome 22
Path 2
Term Annotations click to browse term
  disease 292546
    Developmental Disease 170869
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156702
        genetic disease 151825
          monogenic disease 118484
            X-linked monogenic disease 14808
              Meester-Loeys syndrome 22
paths to the root