Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

AORTIC ANEURYSM, FAMILIAL THORACIC 1
Synonyms

ANEURYSM, THORACIC AORTIC

AAT1

ANNULOAORTIC ECTASIA

AORTIC DISSECTION, FAMILIAL

AORTIC ANEURYSM, FAMILIAL THORACIC

ERDHEIM CYSTIC MEDIAL NECROSIS OF AORTA

FAA1

ID

http://purl.bioontology.org/ontology/OMIM/607086

altLabel

ANEURYSM, THORACIC AORTIC

AAT1

ANNULOAORTIC ECTASIA

AORTIC DISSECTION, FAMILIAL

AORTIC ANEURYSM, FAMILIAL THORACIC

ERDHEIM CYSTIC MEDIAL NECROSIS OF AORTA

FAA1

cui

C0392775

C0345050

C0162872

Gene Locus

11q23.3-q24

Gene Symbol

FAA1

AAT1

MIMTYPEMEANING

Mendelian phenotype or locus, molecular basis unknown.

notation

607086

OMIM Entry Type

5

OMIM MimType Value

perc

prefLabel

AORTIC ANEURYSM, FAMILIAL THORACIC 1

tui

T047

T019

T190

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C536230 MESH CUI
http://purl.bioontology.org/ontology/MESH/C562834 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D3-83050 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/45894003 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X205I RCD CUI
http://purl.bioontology.org/ontology/SNMI/M-52470 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X205H RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/45894003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/253646008 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/253646008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X780f RCD CUI
http://purl.bioontology.org/ontology/RCD/X205I RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/45894003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003601 NDFRT CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0162872 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MDRFRE/10043465 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D017545 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/433068007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10043465 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10043465 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/433068007 SCTSPA CUI
http://purl.bioontology.org/ontology/ICPC2P/K99004 ICPC2P CUI
http://purl.bioontology.org/ontology/MESH/D017545 MESH CUI
http://purl.bioontology.org/ontology/RCD/X204L RCD CUI
http://purl.bioontology.org/ontology/MESH/C562834 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C562834 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0024559 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0024559 DOVES LOOM