Disease #05079 (PBD (peroxisome biogenesis disorder (Zellweger syndrome)))

Official abbreviation PBD
Name peroxisome biogenesis disorder (Zellweger syndrome)
OMIM ID -
Inheritance -
Individuals reported having this disease 811
Phenotype entries for this disease 787
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

811 entries on 9 pages. Showing entries 1 - 100.
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00050127 - article in revision at "Human Mutation" - - yes Egypt - - 0 - - PBD - PEX6 PEX6 1 2 Hanno Bolz
00282884 - PubMed: Shaheen 2011 - - - - - - 0 - - PBD - HSD17B4 HSD17B4 1 1 Global Variome, with Curator vacancy
00282894 - PubMed: Shaheen 2011 - - - - - - 0 - - PBD - HSD17B4 HSD17B4 1 1 Global Variome, with Curator vacancy
00283299 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283301 - PubMed: Xiong 2015 - - - Japan - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283302 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283305 Pat713 PubMed: Yik 2009 - - - United States - - 0 - - PBD - PEX6 PEX6 2 1 Global Variome, with Curator vacancy
00283306 Pat720 PubMed: Yik 2009 - - - United States - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283307 Pat609 PubMed: Yik 2009 - - - United States - - 0 - - PBD - PEX6 PEX6 2 1 Global Variome, with Curator vacancy
00283308 FamPatII1 PubMed: Raas-Rothschild 2002 2-generation family, 3 affected, parents and son; son M - Israel Algeria;Jewish-Ashkenazi;Jewish-Yemenite - 0 - - PBD see paper; ... PEX6 PEX6 2 3 Nancy Braverman
00283309 - PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283310 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283311 C-05 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - PEX6 PEX6 2 1 Nancy Braverman
00283312 C-14 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - PEX6 PEX6 1 1 Nancy Braverman
00283313 PBD106 PubMed: Yahraus 1996 - - - - - - 0 - - PBD - PEX6 PEX6 2 1 Global Variome, with Curator vacancy
00283314 PBD6-01 PubMed: Matsumoto 2001 - - - Japan - - 0 - - PBD - PEX6 PEX6 3 1 Nancy Braverman
00283317 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283321 - PubMed: Krause 2009 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Johan den Dunnen
00283323 PatII1m PubMed: Raas-Rothschild 2002 mother F - Israel Algeria;Jewish-Ashkenazi - 0 - - PBD see paper; ... PEX6 PEX6 3 1 Nancy Braverman
00283324 - PubMed: Krause 2009 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Johan den Dunnen
00283332 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283335 PatII1f PubMed: Raas-Rothschild 2002 father M - Israel Yemenite;Jewish - 0 - - PBD see paper; ... PEX6 PEX6 1 1 Nancy Braverman
00283338 C-03 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - PEX6 PEX6 1 1 Nancy Braverman
00283339 - PubMed: Najmabadi 2011 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283346 - PubMed: Bean 2013 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283348 C-10 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - PEX6 PEX6 1 1 Nancy Braverman
00283351 Pat2 PubMed: Fukuda 1996 - F - Japan - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283352 - PubMed: Ebberink 2010, PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283353 - PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283354 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283355 Pat710 PubMed: Yik 2009 - - - United States - - 0 - - PBD - PEX6 PEX6 3 1 Global Variome, with Curator vacancy
00283356 C-09 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - PEX6 PEX6 1 1 Nancy Braverman
00283361 C-15 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - PEX6 PEX6 1 1 Nancy Braverman
00283363 C-07 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - PEX6 PEX6 1 1 Nancy Braverman
00283364 - - - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283367 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283372 - PubMed: Al-Gazali 2010 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283374 C-02 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - PEX6 PEX6 1 1 Nancy Braverman
00283376 Pat1/GM04340 PubMed: Fukuda 1996 - - yes Japan - - 0 - - PBD - PEX6 PEX6 1 1 Nancy Braverman
00283378 C-12 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - PEX6 PEX6 1 1 Nancy Braverman
00283379 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283381 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - PEX6 PEX6 2 1 Global Variome, with Curator vacancy
00283382 C-13 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - PEX6 PEX6 2 1 Global Variome, with Curator vacancy
00283384 C-11 PubMed: Imamura 2000 - - - Japan - - 0 - - PBD - PEX6 PEX6 1 1 Nancy Braverman
00283385 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 Global Variome, with Curator vacancy
00283387 - PubMed: Xiong 2015 - - - - - - 0 - - PBD - MITF MITF 1 1 Global Variome, with Curator vacancy
00283619 Pat719 PubMed: Yik 2009 - - - - - - 0 - - PBD - PEX1 PEX1 2 1 Global Variome, with Curator vacancy
00283621 Pat627 PubMed: Yik 2009 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283622 - PubMed: Rosewich 2005, PubMed: Steinberg 1993, PubMed: Ebberink 2011, - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283624 - , PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283625 - PubMed: Rosewich 2005, PubMed: Steinberg 1993 - - - - - - 0 - - PBD zellweger syndrome PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283626 - PubMed: Rosewich 2005, PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283627 - PubMed: Rosewich 2005, PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283628 - PubMed: Reuber 1997, PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283630 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283631 - PubMed: Rosewich 2005 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283632 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283633 - PubMed: Mohebbi 2012 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283634 Pat616 PubMed: Yik 2009 - - - United States - - 0 - - PBD - PEX1 PEX1 2 1 Global Variome, with Curator vacancy
00283636 - PubMed: Maxwell 2002, PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283637 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283639 - PubMed: Steinberg 1993, PubMed: Walter 2001, PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283640 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283641 - PubMed: Steinberg 1993, PubMed: Portsteffen 1997, PubMed: Ebberink 2011, PubMed: Steinberg 2004, PubMed: Reuber 1997, PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283642 - PubMed: Rosewich 2005, , PubMed: Steinberg 1993, PubMed: Thoms 2011, PubMed: Steinberg 2004, PubMed: Maxwell 2002, PubMed: Ebberink 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283646 Pat604 PubMed: Yik 2009 - - - United States - - 0 - - PBD - PEX1 PEX1, PEX26 2 1 Global Variome, with Curator vacancy
00283648 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283649 - PubMed: Steinberg 1993, PubMed: Walter 2001 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283653 - PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283654 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283656 - PubMed: Rosewich 2005, PubMed: Gärtner 1999, PubMed: Waterham 2012, PubMed: Weleber 1993, PubMed: Walter 2001 1997, PubMed: Bean 2013 1998, PubMed: Portsteffen 1997, PubMed: Reuber 1997, PubMed: Steinberg 1993, PubMed: Steinberg 2006 2001, 2005, - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283657 - PubMed: Reuber 1997 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283659 - PubMed: Maxwell 2005, PubMed: Steinberg 1993 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283660 - PubMed: Rosewich 2005 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283661 - PubMed: Rosewich 2005, PubMed: Steinberg 1993, PubMed: Thoms 2011, PubMed: Collins 1999, PubMed: Ebberink 2011, PubMed: Crane 2005, PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283662 - PubMed: Maxwell 2002, PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283665 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283666 - PubMed: Ebberink 2011, PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283669 - PubMed: Steinberg 1993, PubMed: Bean 2013, PubMed: Reuber 1997, PubMed: Heimler 1991, PubMed: Gärtner 1992, PubMed: Steinberg 2006, PubMed: Collins 1999, PubMed: Ratbi 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283671 - PubMed: Rosewich 2005 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283673 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283675 - PubMed: Steinberg 1993, PubMed: Tamura 1998, PubMed: Tamura 2001 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283676 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283677 - PubMed: Reuber 1997 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283678 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283680 - , PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283682 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283683 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283684 - PubMed: Rosewich 2005 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283685 Pat716 PubMed: Yik 2009 - - - - - - 0 - - PBD - PEX1 PEX1 2 1 Global Variome, with Curator vacancy
00283687 - , PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283689 - PubMed: Steinberg 1993, PubMed: Ebberink 2011, - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283694 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283696 - PubMed: Steinberg 1993, PubMed: Ebberink 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283697 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283698 - PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283699 - PubMed: Ebberink 2011, PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283700 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283702 - , PubMed: Ratbi 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
00283706 - PubMed: Rosewich 2005, PubMed: Steinberg 1993, PubMed: Ebberink 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 Global Variome, with Curator vacancy
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