Disease #00863 (SESAMES (SESAME syndrome), OMIM:612780)

Official abbreviation SESAMES
Name SESAME syndrome
OMIM ID 612780
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 10
Phenotype entries for this disease 10
Associated with 1 gene KCNJ10
Associated tissues -
Disease features -
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Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00080933 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - SESAMES SESAME syndrome (OMIM:612780) KCNJ10 KCNJ10 1 1 Daniel Trujillano
00281946 - PubMed: Freudenthal 2011, PubMed: Scholl 2009, PubMed: Sala-Rabanal 2010, PubMed: Cross 2013 - - - - - - 0 - - SESAMES - KCNJ10 KCNJ10 1 1 Global Variome, with Curator vacancy
00281949 - PubMed: Reichold 2010, PubMed: Scholl 2009, PubMed: Cross 2013 - - - - - - 0 - - SESAMES - KCNJ10 KCNJ10 1 1 Global Variome, with Curator vacancy
00281952 - PubMed: Scholl 2009, PubMed: Sala-Rabanal 2010, PubMed: Tanemoto 2014 - - - - - - 0 - - SESAMES - KCNJ10 KCNJ10 1 1 Global Variome, with Curator vacancy
00281953 - PubMed: Scholl 2009, PubMed: Sala-Rabanal 2010 - - - - - - 0 - - SESAMES - KCNJ10 KCNJ10 1 1 Global Variome, with Curator vacancy
00281954 - PubMed: Scholl 2009, PubMed: Sala-Rabanal 2010 - - - - - - 0 - - SESAMES - KCNJ10 KCNJ10 1 1 Global Variome, with Curator vacancy
00281955 - PubMed: Lemke 2012 - - - - - - 0 - - SESAMES - KCNJ10 KCNJ10 1 1 Global Variome, with Curator vacancy
00281962 - PubMed: Lemke 2012 - - - - - - 0 - - SESAMES - KCNJ10 KCNJ10 1 1 Global Variome, with Curator vacancy
00281965 - PubMed: Scholl 2012 - - - - - - 0 - - SESAMES - KCNJ10 KCNJ10 1 1 Global Variome, with Curator vacancy
00281966 - PubMed: Richards 2015 - - - - - - 0 - - SESAMES sesame syndrome KCNJ10 KCNJ10 1 1 Global Variome, with Curator vacancy
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