wikimedia
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Table
SPARQL
Graphs
1
1
Services
1
1
Assets
0
0
Insights
Schema
BETA
Class frequency
Class hierarchy
Q48307234-CD5934F7-3670-48D0-BD90-39EC1A6391C0
Q48307234-CD5934F7-3670-48D0-BD90-39EC1A6391C0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48307234-CD5934F7-3670-48D0-BD90-39EC1A6391C0
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.
P2860
Q48307234-CD5934F7-3670-48D0-BD90-39EC1A6391C0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48307234-CD5934F7-3670-48D0-BD90-39EC1A6391C0
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
a1c5048f1e2ac4fc6bddcc987f8aca16f9e2aa12
P2860
Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.