Disease #05079

Official abbreviation PBD
Name peroxisome biogenesis disorder (PBD)
OMIM ID -
Inheritance -
Individuals reported having this disease 44
Phenotype entries for this disease 43
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

44 entries on 1 page. Showing entries 1 - 44.
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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 LOVD-team, but with Curator vacancy
00282894 - PubMed: Shaheen 2011 - - - - - - 0 - - PBD - HSD17B4 HSD17B4 1 1 LOVD-team, but with Curator vacancy
00283308 - PubMed: Raas-Rothschild 2002 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 LOVD-team, but with Curator vacancy
00283313 - PubMed: Yahraus 1996 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 LOVD-team, but with Curator vacancy
00283323 - PubMed: Raas-Rothschild 2002, PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 LOVD-team, but with Curator vacancy
00283335 - PubMed: Raas-Rothschild 2002 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 LOVD-team, but with Curator vacancy
00283339 - PubMed: Najmabadi 2011 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 LOVD-team, but with Curator vacancy
00283346 - PubMed: Bean 2013 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 LOVD-team, but with Curator vacancy
00283357 - PubMed: Steinberg 2004 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 LOVD-team, but with Curator vacancy
00283360 - PubMed: Ratbi 2015, PubMed: Steinberg 2004 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 LOVD-team, but with Curator vacancy
00283364 - - - - - - - - 0 - - PBD - PEX6 PEX6 1 1 LOVD-team, but with Curator vacancy
00283375 - PubMed: Steinberg 2004 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 LOVD-team, but with Curator vacancy
00283380 - PubMed: Steinberg 2004 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 LOVD-team, but with Curator vacancy
00283384 - PubMed: Imamura 2000 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 LOVD-team, but with Curator vacancy
00283386 - PubMed: Steinberg 2004 - - - - - - 0 - - PBD - PEX6 PEX6 1 1 LOVD-team, but with Curator vacancy
00283387 - PubMed: Yahraus 1996, PubMed: Xiong 2015 - - - - - - 0 - - PBD - MITF MITF 1 1 LOVD-team, but with Curator vacancy
00283625 - PubMed: Rosewich 2005, PubMed: Steinberg 1993 - - - - - - 0 - - PBD zellweger syndrome PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283628 - PubMed: Reuber 1997, PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283630 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283632 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283635 - PubMed: Maxwell 2005 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283636 - PubMed: Maxwell 2002, PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283637 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283638 - PubMed: Maxwell 2005 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283639 - PubMed: Steinberg 1993, PubMed: Walter 2001, PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but 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 LOVD-team, but with Curator vacancy
00283654 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but 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 LOVD-team, but with Curator vacancy
00283657 - PubMed: Reuber 1997 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283658 - PubMed: Maxwell 2002 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283662 - PubMed: Maxwell 2002, PubMed: Xiong 2015 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283665 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283674 - PubMed: Walter 2001 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283677 - PubMed: Reuber 1997 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283692 - PubMed: Walter 2001 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283697 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283707 - PubMed: Maxwell 2002 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283708 - PubMed: Walter 2001 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283711 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283720 - PubMed: Walter 2001 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283725 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283728 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
00283730 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - PEX1 PEX1 1 1 LOVD-team, but with Curator vacancy
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