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Familial Thoracic Aortic Aneurysm 10 - 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:Familial Thoracic Aortic Aneurysm 10
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Accession:DOID:9000442 term browser browse the term
Synonyms:exact_synonym: AAT10;   AORTIC ANEURYSM, FAMILIAL THORACIC 10;   LOX-RELATED CONDITION;   LOX-RELATED DISORDER;   LOX-RELATED DISORDERS;   thoracic aortic aneurysm with or without aortic dissection;   thoracic aortic aneurysm-10
 primary_id: MIM:617168

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Familial Thoracic Aortic Aneurysm 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Lox lysyl oxidase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder OMIM
ClinVar		 PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chrNW_004624774:20,116,625...20,137,767
Ensembl chrNW_004624774:20,116,970...20,134,355 		JBrowse link
G G LOX lysyl oxidase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder OMIM
ClinVar		 PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr23:25,158,458...25,172,763
Ensembl chr23:25,157,269...25,172,757 		JBrowse link
G P LOX lysyl oxidase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder OMIM
ClinVar		 PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594 		JBrowse link
G S Lox lysyl oxidase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder OMIM
ClinVar		 PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chrNW_004936575:2,526,067...2,533,996
Ensembl chrNW_004936575:2,524,342...2,533,559 		JBrowse link
G D LOX lysyl oxidase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder OMIM
ClinVar		 PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr11:12,023,645...12,040,015
Ensembl chr11:12,027,250...12,039,819 		JBrowse link
G B LOX lysyl oxidase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder OMIM
ClinVar		 PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 5:117,450,833...117,464,957
Ensembl chr 5:123,234,662...123,248,717 		JBrowse link
G C Lox lysyl oxidase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder OMIM
ClinVar		 PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chrNW_004955521:178,290...193,926
Ensembl chrNW_004955521:185,792...193,926 		JBrowse link
G R Lox lysyl oxidase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder OMIM
ClinVar		 PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr18:48,162,889...48,175,640
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G M Lox lysyl oxidase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder OMIM
ClinVar		 PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr18:52,649,132...52,662,939
Ensembl chr18:52,649,139...52,662,939 		JBrowse link
G H LOX lysyl oxidase IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder OMIM
ClinVar		 PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G G SRFBP1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder ClinVar PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr23:25,063,926...25,124,601
Ensembl chr23:25,063,910...25,126,523 		JBrowse link
G P SRFBP1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder ClinVar PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 2:125,507,744...125,574,751
Ensembl chr 2:125,507,837...125,575,679 		JBrowse link
G S Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder ClinVar PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chrNW_004936575:2,430,074...2,493,311
Ensembl chrNW_004936575:2,430,015...2,493,329 		JBrowse link
G D SRFBP1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder ClinVar PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr11:11,937,274...12,001,841
Ensembl chr11:11,940,280...12,000,962 		JBrowse link
G B SRFBP1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder ClinVar PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 5:117,351,025...117,417,546
Ensembl chr 5:123,134,896...123,196,844 		JBrowse link
G C Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder ClinVar PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chrNW_004955521:105,565...160,906
Ensembl chrNW_004955521:104,918...159,724 		JBrowse link
G R Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder ClinVar PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr18:48,118,740...48,139,824
Ensembl chr18:45,920,446...45,942,515 		JBrowse link
G M Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder ClinVar PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr18:52,598,703...52,625,005
Ensembl chr18:52,598,765...52,625,003 		JBrowse link
G H SRFBP1 serum response factor binding protein 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder 		ClinVar PMID:9536098 PMID:12417550 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 5:121,961,975...122,078,935
Ensembl chr 5:121,961,975...122,075,570 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      cardiovascular system disease 60635
        vascular disease 42874
          Aneurysm 3045
            aortic aneurysm 2511
              thoracic aortic aneurysm 1245
                Familial Thoracic Aortic Aneurysm 10 19
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      cardiovascular system disease 60635
        vascular disease 42874
          artery disease 28747
            aortic disease 8953
              aortic aneurysm 2511
                thoracic aortic aneurysm 1245
                  Familial Thoracic Aortic Aneurysm 10 19
paths to the root