juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

human disease
rdfs:label "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"@en
skos:altLabel "JPHT"@en
"JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME"@en
"JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT"@en
"Jp/Hht Syndrome"@en
"Jps/Hht"@en
"Juvenile Polyposis With Hereditary Hemorrhagic Telangiectasia"@en
"Polyposis, Generalized Juvenile, With Pulmonary Arteriovenous Malformation"@en
"Telangiectasia, Hereditary Hemorrhagic, With Juvenile Polyposis Coli"@en
schema:description
"human disease"@en
schema:dateModified "2024-02-26T20:21:26+00:00"^^xsd:dateTime
schema:version 2088099943
wikibase:identifiers 5
wikibase:sitelinks 0
wikibase:statements 7
p:P11430 wd:statement/Q55950298-51ba4efd-4f28-392d-fe7a-49f90a660c14
p:P2293 wd:statement/Q55950298-17F8CB9D-86EB-4916-9CB4-97E7D31EB121
p:P2888 wd:statement/Q55950298-28ACA632-3D25-4F2A-A485-66598C4024A6
p:P2892 wd:statement/Q55950298-ADED74F1-97E9-4DE4-A913-2C1AD82F0F97
p:P486 wd:statement/Q55950298-2CA2B57B-5637-4AA4-B808-D94108C57CC6
p:P492 wd:statement/Q55950298-63509B9F-99EC-4107-8C46-02EA841B9862
p:P5270 wd:statement/Q55950298-CECF57C7-2948-4255-B86A-99E28A015606
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C563412>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0008278>
wdt:P11430 "DI-01855"
wdt:P2293 SMAD4
wdt:P2888 <http://www.orpha.net/ORDO/Orphanet_2929>
wdt:P2892 "C1832942"
wdt:P486 "C563412"
wdt:P492 "175050"
wdt:P5270 "MONDO_0008278"
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