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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
 primary_id: OMIM: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 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 Bgn biglycan ISO ClinVar Annotator: match by term: Meester-Loeys syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27632686 PMID:28492532 NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    syndrome 10710
      Meester-Loeys syndrome 2
Path 2
Term Annotations click to browse term
  disease 21112
    Developmental Disease 18434
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18288
        genetic disease 18231
          monogenic disease 10212
            X-linked monogenic disease 1359
              Meester-Loeys syndrome 2
paths to the root