progressive familial heart block type IB

progressive familial heart block characterized by that has material basis in heterozygous mutation in the TRPM4 gene on chromosome 19q13
rdfs:label "progressive familial heart block type IB"@en
skos:altLabel "PFHB1B"@en
"PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB"@en
"PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB; PFHB1B"@en
"Pfhbib"@en
schema:description "progressive familial heart block characterized by that has material basis in heterozygous mutation in the TRPM4 gene on chromosome 19q13"@en
schema:dateModified "2026-07-05T10:57:40+00:00"^^xsd:dateTime
schema:version 2514099784
wikibase:identifiers 8
wikibase:sitelinks 0
wikibase:statements 19
p:P11430 wd:statement/Q32146809-1bf77d7a-4b5c-17d8-db57-65c8b5e5a17c
p:P1692 wd:statement/Q32146809-02C16495-171A-4974-AFFF-4A50C87C4749
p:P2293 wd:statement/Q32146809-0EE8DB55-F326-4789-B1AD-7071116DE770
p:P279 wd:statement/Q32146809-78CD48E0-8D44-4FF2-BC5D-1CDA021B69EC
wd:statement/Q32146809-84E5056F-A327-40B8-9D35-42287ABBB3EF
wd:statement/Q32146809-BFA46175-3D60-4887-8745-F51C07241F65
p:P2888 wd:statement/Q32146809-0FF6655A-06EC-4EFD-9859-6B4FFF034B52
wd:statement/Q32146809-8F713F8D-1296-495B-92CB-649B82706592
wd:statement/Q32146809-CF6D32DF-3EF6-4D98-B571-78805A87170C
p:P2892 wd:statement/Q32146809-A49539A7-4F33-4B36-927F-1FC41DBDE403
p:P31 wd:statement/Q32146809-1B3AF7C5-7249-46C8-BA79-A5D5CF3F2B09
wd:statement/Q32146809-F0F33593-E4A9-4FB1-8E5D-BD2C3B912B4C
p:P4317 wd:statement/Q32146809-A93842CA-9647-478C-8298-3DDFE08B46C4
p:P486 wd:statement/Q32146809-11EC0A3D-AFC8-4C6B-BCBC-C834AE989625
p:P492 wd:statement/Q32146809-5095F0F8-9D37-40E4-AA9D-8B6297C12051
wd:statement/Q32146809-6DCC7E59-B1BC-4F36-85CF-B68D401AFAD6
p:P5008 wd:statement/Q32146809-8B754299-E93B-4DEC-8216-9A4876DA315C
p:P5270 wd:statement/Q32146809-A55123D0-9F45-4382-8C52-3D8F3A5E82F8
p:P699 wd:statement/Q32146809-24DB2876-7517-41F7-9784-569300A99DD3
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C567037>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0011474>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0111076>
wdt:P11430 "DI-02825"
wdt:P1692 "426.6"
wdt:P2293 TRPM4
wdt:P279 autosomal dominant disease
progressive familial heart block
wdt:P2888 <http://identifiers.org/doid/DOID:0111076>
<http://purl.obolibrary.org/obo/DOID_0111076>
<http://www.orpha.net/ORDO/Orphanet_871>
wdt:P2892 "C1970298"
wdt:P31 type of disease
rare disease
wdt:P4317 "2610"
wdt:P486 "C567037"
wdt:P492 "604559"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0011474"
wdt:P699 "DOID:0111076"
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