alpha-1-antitrypsin deficiency

genetic disorder that may result in lung disease or liver disease
rdfs:label
"alpha-1-antitrypsin deficiency"@en
skos:altLabel
"A-1ATD"@en
"A1AD"@en
"A1AT deficiency"@en
"AAT deficiency"@en
"AATD"@en
"ALPHA-1-ANTITRYPSIN DEFICIENCY"@en
"Alpha 1 antitrypsin deficiency"@en
"Alpha 1-antitrypsin deficiency"@en
"Alpha-1 antitrypsin deficiency"@en
"Deficiency in Alpa-1-proteinase inhibitor"@en
schema:description
"genetic disorder that may result in lung disease or liver disease"@en
schema:dateModified "2026-10-24T00:27:37+00:00"^^xsd:dateTime
schema:version 2560165998
wikibase:identifiers 33
36
wikibase:sitelinks 28
wikibase:statements 78
p:P10283 wd:statement/Q622437-AC794114-6DAE-4679-9F36-3DA891038575
p:P11143 wd:statement/Q622437-646DE640-6BBF-47F1-895C-5988D9F57A10
p:P11430 wd:statement/Q622437-2a3ef329-4120-ecd1-fc69-8cb18ad54822
p:P11901 wd:statement/Q622437-f1550a74-4ed2-9855-269d-dd91b94ce80f
p:P1193 wd:statement/Q622437-B7B2319D-FCD0-43A3-8433-19428F5B8926
p:P1325 wd:statement/Q622437-C22690F8-3B00-4783-A08A-9EAC1058D3A6
p:P1461 wd:statement/Q622437-0203117D-D0B2-4EDC-ACF8-08E70A175824
p:P14914 wd:statement/Q622437-3A300ACB-AF09-4BD8-97AD-EC1BE697E5D6
p:P1550 wd:statement/Q622437-94FAA42D-B7C2-4CD8-AFAD-BBA728754C2F
p:P1692 wd:statement/Q622437-93E3FAFE-ACCD-4538-A38F-D4DBFAA9E476
p:P1748 wd:statement/Q622437-EB43B58C-2EE4-4D0A-8082-2D4A2390B338
p:P18 wd:statement/Q622437-64C44009-1F9F-4961-93B1-728F6B7E8D6A
p:P1995 wd:statement/Q622437-6C2D67F4-F989-4F1D-8570-1ABE01273309
p:P2293 wd:statement/Q622437-CA4BC24B-7475-4D81-8D3F-B4B00891697C
p:P279 wd:statement/Q622437-053104CA-670F-4488-A780-C4B4CC8128C4
wd:statement/Q622437-12152349-FD87-4B5F-89BD-9008E3CCE0C1
wd:statement/Q622437-4E12CAFD-8637-4755-9C0B-A1DD04924409
wd:statement/Q622437-835AADA0-03F1-4DBB-83F5-B697D56BADA8
wd:statement/Q622437-CD2A4022-F1CA-4543-8479-74E235705CA2
wd:statement/Q622437-EBBE2AF9-0A0D-4209-B8C7-C97689BD6F91
p:P2841 wd:statement/Q622437-0BA09F3F-D3D9-43BA-9B4B-2CE1891395E2
p:P2888 wd:statement/Q622437-70C69213-AB5C-448D-B91F-0A087CCF843E
wd:statement/Q622437-B89C6EC7-ECEB-4485-92DB-D95AE4E80255
wd:statement/Q622437-C9F1DEA2-62E1-4C16-8BF4-23B2F9040B72
p:P2892 wd:statement/Q622437-3C0C14E9-D8F6-4570-9770-6E1E3A8F5554
wd:statement/Q622437-FF75A17E-BF0C-4D2E-ABA9-C88105EA392F
p:P31 wd:statement/Q622437-23851040-F505-4E1B-993A-CB574EBE58FB
wd:statement/Q622437-8EA623E5-8D7D-4A38-9073-915161A9BC4F
wd:statement/Q622437-CF572CF5-1CFE-4BE9-99F0-7E4205B12055
wd:statement/Q622437-EF1BA1CC-BFFD-4635-999D-14E91EBF183B
p:P3471 wd:statement/Q622437-E5F586E2-CDD9-42C6-8640-890579AC3157
p:P373 wd:statement/Q622437-997BD8FF-9626-4C8E-A5C8-6DD1C1FEE1C8
p:P4229 wd:statement/Q622437-6039AD4A-991A-4A4C-8A6C-CDEBC310FF3D
wd:statement/Q622437-CF2A87E1-DCCA-410D-B82D-FEB95F311E58
p:P4233 wd:statement/Q622437-a8ad69a0-44ff-9aaa-18b9-8c65e94a5c53
p:P4317 wd:statement/Q622437-674D3C7C-7F14-43D2-BA82-7730F5DD6B95
p:P4527 wd:statement/Q622437-D14F54C5-AAD3-4C9A-B732-9279C58C6B99
p:P486 wd:statement/Q622437-E712E8BF-0332-4068-BE10-0D1DA95DF9D3
p:P492 wd:statement/Q622437-7DB5AD2B-1A53-4FD6-959B-60D0AF9B174B
p:P5008 wd:statement/Q622437-B5471F5D-EBBC-40C6-86FB-98427E31047A
p:P5082 wd:statement/Q622437-66D591A5-4A1B-411B-A225-FAC0D6822704
wd:statement/Q622437-8805FDCF-28F6-40D6-9ADD-EB069B9BC8AF
p:P5270 wd:statement/Q622437-28711C75-6287-4142-AA08-308AD5C830B3
p:P557 wd:statement/Q622437-FBF28729-820E-4FA3-AF2E-14C0ED79E5E2
p:P604 wd:statement/Q622437-CDD911D7-9768-45A2-B636-BD8052CB04E1
p:P6366 wd:statement/Q622437-734C10A9-46F0-40D6-B254-89418FB3EC4D
p:P646 wd:statement/Q622437-F00D3950-4BEC-43F8-997B-0BFCC8D0A0FD
p:P6532 wd:statement/Q622437-10E4FEC3-0B1D-43F2-8D50-6551C5B20F19
wd:statement/Q622437-1849F59F-FA13-41B5-BF64-8D7E592EFC74
wd:statement/Q622437-2A46D3D3-7FB0-4122-93E7-6ED55FC12BD5
wd:statement/Q622437-3815DFE3-7709-42AF-BE9F-8B830A70F35F
wd:statement/Q622437-38DFF7C6-09AB-44D5-A2BA-5C92F9A04734
wd:statement/Q622437-3E601BAF-FB6B-4456-B9C3-5678E602321D
wd:statement/Q622437-43D789E5-79C6-4B5A-9030-39EFB352D677
wd:statement/Q622437-4E805035-D346-405F-8310-89267AF07FF0
wd:statement/Q622437-582B4B89-7638-42A6-9015-7DE186F445CF
wd:statement/Q622437-5E81AC92-59A4-420E-B7A8-486BFD35EF27
wd:statement/Q622437-62D94AA3-55FE-43D1-9052-4C3D69EF2607
wd:statement/Q622437-7BE66202-4BE9-4BD5-B17D-7157E6E0B975
wd:statement/Q622437-80798654-FA3D-4E72-A26B-4A92B89308CB
wd:statement/Q622437-8FBB7834-0CD3-4828-B18A-79A238C8C931
wd:statement/Q622437-A7396A8C-FE5D-4C10-A61D-5AD7AF4DB6AA
wd:statement/Q622437-AE8941A7-3581-4A49-80FD-D1156F22FC9E
wd:statement/Q622437-B16B9BAC-65C3-4332-9ACC-166B20724857
wd:statement/Q622437-BE99BCB7-019E-46C8-A5EB-4965E8CFF3B4
wd:statement/Q622437-CAD76B21-0230-473C-B1A2-15DD9D327A1A
p:P665 wd:statement/Q622437-76AA75CB-7B56-4E7E-BD7F-6634788853E8
p:P667 wd:statement/Q622437-4B8E9886-B478-462C-8A38-B69092605C16
p:P668 wd:statement/Q622437-8791E160-27D5-49D4-8865-5C2E8D14C5F9
p:P672 wd:statement/Q622437-7300AEAC-69A5-49FD-B633-46A78E3003C4
wd:statement/Q622437-8873DE60-7D16-4F66-9A9A-572CCD346B18
wd:statement/Q622437-8A5F65EF-827F-4DB0-ABE8-8219C84F52BB
wd:statement/Q622437-9AB7E31D-A196-46B2-80F5-EB4BE472E49B
p:P673 wd:statement/Q622437-278766AE-3802-41DC-87CF-487042E9D0E8
p:P699 wd:statement/Q622437-B833ABFD-A631-46A8-A78B-020C62C162B1
p:P7329 wd:statement/Q622437-2D59D870-3D30-4EA5-ADE3-F61862E4D8AA
p:P7464 wd:statement/Q622437-E7F45118-441B-4DD4-A75F-B6EE2CF49F6F
p:P7807 wd:statement/Q622437-35E2A1D8-6927-41F0-B372-E698FA9B9C0B
p:direct-normalized/P4527 <http://data.parliament.uk/terms/8199>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D019896>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0013282>
p:direct-normalized/P6366 <https://makg.org/entity/2780535462>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H01103>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C06.552.074>
<http://id.nlm.nih.gov/mesh/C08.381.112>
<http://id.nlm.nih.gov/mesh/C16.320.060>
<http://id.nlm.nih.gov/mesh/C23.550.325.500.500>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:13372>
wdt:P10283 "C2780535462"
wdt:P11143 "Alpha-1 antitrypsin deficiency"
wdt:P11430 "DI-02928"
wdt:P11901 "aat-deficiency"
wdt:P1193 0.0003^^xsd:decimal
wdt:P1325 <http://www.nanbyou.or.jp/entry/4738>
wdt:P1461 "alpha-1-antitrypsin-deficiency"
wdt:P14914 "D00060"
wdt:P1550 "60"
wdt:P1692 "273.4"
wdt:P1748 "C84397"
wdt:P18 <http://commons.wikimedia.org/wiki/Special:FilePath/A1AT.png>
wdt:P1995 endocrinology
wdt:P2293 SERPINA1
wdt:P279 plasma protein metabolism disease
lung disease
rare metabolic liver disease
rare genetic respiratory disease
other inborn metabolic disease
nephropathy secondary to a storage or other metabolic disease
wdt:P2841 any age
wdt:P2888 <http://identifiers.org/doid/DOID:13372>
<http://purl.obolibrary.org/obo/DOID_13372>
<http://www.orpha.net/ORDO/Orphanet_60>
wdt:P2892 "C0221757"
"C3501835"
wdt:P31 type of disease
symptom or sign
designated intractable/rare disease
rare disease
wdt:P3471 "40899"
wdt:P373 "Alpha 1-antitrypsin deficiency"
wdt:P4229 "E88.0"
"E88.01"
wdt:P4233 "alpha-1-antitrypsin-deficiency"
wdt:P4317 "5784"
wdt:P4527 "8199"
wdt:P486 "D019896"
wdt:P492 "613490"
wdt:P5008 WikiProject Medicine
wdt:P5082 "alfa-1-antitrypsinmangel"
wdt:P5270 "MONDO_0013282"
wdt:P557 "434"
wdt:P604 "000120"
wdt:P6366 "2780535462"
wdt:P646 "/m/01t4q6"
wdt:P6532 cholestasis
splenomegaly
hepatocellular carcinoma
portal hypertension
hepatitis
jaundice
Failure to thrive in infancy
liver cirrhosis
bronchitis
neonatal jaundice
pulmonary emphysema
chronic obstructive pulmonary disease
elevated transaminases
liver fibrosis
bronchiectasis
cough
asthma
hemoptysis
panniculitis
wdt:P665 "H01103"
wdt:P667 "T99"
wdt:P668 "NBK1519"
wdt:P672 "C06.552.074"
"C08.381.112"
"C16.320.060"
"C23.550.325.500.500"
wdt:P673 "295686"
wdt:P699 "DOID:13372"
wdt:P7329 "5C5A"
wdt:P7464 "alpha-1-antitrypsin-deficiency"
wdt:P7807 "824872160"
Download as:
TurtleJSON-LDRDF/XML
data from SPARQL profile: Wikidata