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
Q55521682-A68559B2-92C2-4B4D-A691-F836E27F4AAC
Q55521682-A68559B2-92C2-4B4D-A691-F836E27F4AAC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q55521682-A68559B2-92C2-4B4D-A691-F836E27F4AAC
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
P2860
Q55521682-A68559B2-92C2-4B4D-A691-F836E27F4AAC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q55521682-A68559B2-92C2-4B4D-A691-F836E27F4AAC
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
5b6e53e9ee295b95b1d8f84898ac5fa1c937fbb2
P2860
Mutations in MED12 cause X-linked Ohdo syndrome