Disease #00387

Official abbreviation ESCS
Name S-cone syndrome, enhanced (ESCS, Goldmann-Favre syndrome)
OMIM ID 268100
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 70
Phenotype entries for this disease 70
Associated with 1 gene NR2E3
Associated tissues -
Disease features -
Remarks -


Individuals

70 entries on 1 page. Showing entries 1 - 70.
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00032723 - PubMed: Haider 2000 - - - - Syrian/Lebanese - 0 - - ESCS - NR2E3 NR2E3 1 4 Pascal Escher
00032724 - PubMed: Wright 2004 - - - - Ashkenazi Jewish - 0 - - ESCS - NR2E3 NR2E3 1 2 Pascal Escher
00032725 - PubMed: Wright 2004 2 families, 2 cases - - Germany - - 0 - - ESCS - NR2E3 NR2E3 1 2 Pascal Escher
00032726 - PubMed: Wright 2004 - - - Cuba - - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00032727 - PubMed: Khan 2007 - - - Saudi Arabia Saudi Arabian - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00032728 - PubMed: Audo 2008 - - - - - - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00032729 - PubMed: Bandah 2009 4 families, 8 cases - - Palestine Palestinian - 0 - - ESCS - NR2E3 NR2E3 1 8 Pascal Escher
00032730 - PubMed: Bonilha 2009 - - - - - - 0 - - ESCS Goldmann-Favre syndrome NR2E3 NR2E3 1 1 Pascal Escher
00032733 - PubMed: Audo 2008 - - - - - - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00032734 - PubMed: Audo 2008 - - - - - - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00032735 - PubMed: Haider 2000 2 families, 2 cases - - - - - 0 - - ESCS - NR2E3 NR2E3 1 2 Pascal Escher
00032736 - PubMed: Haider 2000 - - - - - - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00032737 - PubMed: Wright 2004 - - - Germany - - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00032738 - PubMed: Haider 2000 - - - United Kingdom (Great Britain) British - 0 - - ESCS - NR2E3 NR2E3 1 3 Pascal Escher
00032739 - PubMed: Vaclavik 2008 - - - - - - 0 - - ESCS - NR2E3 NR2E3 1 3 Pascal Escher
00032740 - PubMed: Audo 2008 - - - - - - 0 - - ESCS - NR2E3 NR2E3 1 2 Pascal Escher
00032741 - Galantuomo 2008 - - - Italy Italian - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00032742 - PubMed: Wright 2004 5 families, 6 cases - - - Ashkenazi Jewish - 0 - - ESCS - NR2E3 NR2E3 1 6 Pascal Escher
00032743 - PubMed: Nakamura 2002 - - - Japan Japanese - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00032744 - PubMed: Khan 2007 - - - Saudi Arabia - - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00032745 - PubMed: Bernal 2008 - - - Spain Spanish - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00032746 - PubMed: Iannaccone et al.2009 - - - Italy Jewish-Italian - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00032747 - PubMed: Chavala 2005 - - - - Arab Emirates - 0 - - ESCS Goldmann-Favre syndrome NR2E3 NR2E3 1 2 Pascal Escher
00032748 - PubMed: Bernal 2008 - - - Spain Spanish - 0 - - ESCS Goldmann-Favre syndrome NR2E3 NR2E3 1 1 Pascal Escher
00032749 - PubMed: Pachydaki 2009 2 families, 3 cases - - - - - 0 - - ESCS Goldmann-Favre syndrome NR2E3 NR2E3 1 3 Pascal Escher
00032755 - PubMed: Nakamura 2004 - - - Japan Japanese - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00032756 - PubMed: Audo 2008 - - - - - - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00032757 - PubMed: Haider 2000 - - - - Spanish-Italian - 0 - - ESCS - NR2E3 NR2E3 1 2 Pascal Escher
00032758 - PubMed: Wright 2004 - - - - Ashkenazi Jewish - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032759 - PubMed: Sharon 2003 - - - - - - 0 - - ESCS Goldmann-Favre syndrome NR2E3 NR2E3 2 1 Pascal Escher
00032760 - PubMed: Audo 2008 - - - - - - 0 - - ESCS - NR2E3 NR2E3 2 2 Pascal Escher
00032761 - PubMed: Sharon 2003 - - - - - - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032762 - PubMed: Wright 2004 - - - United Kingdom (Great Britain) British/American - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032763 - PubMed: Wright 2004 - - - Germany - - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032764 - PubMed: Wright 2004 - - - United Kingdom (Great Britain) British/Amerindian - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032766 - PubMed: Lam 2007 - - - - - - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032767 - PubMed: Wright 2004 - - - - British/Italian - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032769 - PubMed: Wright 2004 - - - - Europe, west - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032770 - PubMed: Wright 2004 - - - - Ashkenazi Jewish - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032771 - PubMed: Audo 2008 - - - - - - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032773 - PubMed: Wright 2004 - - - United Kingdom (Great Britain) British - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032774 - PubMed: Wright 2004 - - - Germany - - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032779 - PubMed: Escher 2009 - - - United States Jewish-American - 0 - - ESCS - NR2E3 NR2E3 2 2 Pascal Escher
00032780 - PubMed: Bandah 2009 - - - - Ashkenazi Jewish - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032781 - PubMed: Sharon 2003 - - - - - - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032782 - PubMed: Pachydaki 2009 - - - - - - 0 - - ESCS Goldmann-Favre syndrome NR2E3 NR2E3 2 1 Pascal Escher
00032783 - PubMed: Hayashi 2005 - - - Japan Japanese - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032784 - PubMed: Wright 2004 - - - Germany - - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032785 - PubMed: Wright 2004 - - - - British/German - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00032786 - PubMed: Bandah 2009 - - - - Ashkenazi Jewish - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032787 - PubMed: Wright 2004 - - - Italy Italian - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00032788 - PubMed: Pachydaki 2009 - - - - - - 0 - - ESCS Goldmann-Favre syndrome NR2E3 NR2E3 2 1 Pascal Escher
00032789 - PubMed: Wright 2004 - - - - Ashkenazi Jewish - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00032835 - PubMed: Khan 2010 3 families, 1 case - - Saudi Arabia Saudi Arabian - 0 - - ESCS helicoid subretinal fibrosis NR2E3 NR2E3 1 3 Pascal Escher
00032839 - PubMed: Rocha-Sousa 2010 - - - Portugal Portuguese - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00033617 - PubMed: Kuniyoshi 2013 - M - Japan Japanese - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00033618 - PubMed: Kuniyoshi 2013 - F - Japan Japanese - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00033619 - PubMed: Udar 2011 - F - Brazil Brazilian - 0 - - ESCS Goldmann-Favre syndrome NR2E3 NR2E3 2 1 Pascal Escher
00033620 - PubMed: Udar 2011 - - - - Persian - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00033621 - PubMed: Siemiatkowska 2011 - - - Indonesia Indonesian - 0 - - ESCS - NR2E3 NR2E3 1 5 Pascal Escher
00033622 - PubMed: Cima 2012 - - - Croatia (Hrvatska) - - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00033624 - PubMed: Ripamonti 2014 - - - - - - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00033625 - PubMed: Park 2013 - - - - - - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00033626 - PubMed: Park 2013 - - - - - - 0 - - ESCS - NR2E3 NR2E3 2 1 Pascal Escher
00033627 - PubMed: Park 2013 - - - - - - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00033628 - PubMed: Cassiman 2012 - - - - - - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00033636 - PubMed: Yzer 2013 - - - - - - 0 - - ESCS - NR2E3 NR2E3 1 1 Pascal Escher
00105017 - PubMed: de Castro-Miró 2016 - M yes Saudi Arabia - - 0 - - ESCS - - NRL 1 1 Marta de Castro-Miró
00155507 - Sharon, submitted - M yes Israel Arab-Muslim - 0 - - ESCS - NR2E3 NR2E3 1 2 Dror Sharon
00155511 - Sharon, submitted - M no Israel Ashkenazi Jewish - 0 - - ESCS - NR2E3 NR2E3 2 1 Dror Sharon
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