Disease #00143 (BSS (Bernard-Soulier syndrome), OMIM:231200)

Official abbreviation BSS
Name Bernard-Soulier syndrome
OMIM ID 231200
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 226
Phenotype entries for this disease 16
Associated with 3 genes GP1BA, GP1BB, GP9
Associated tissues -
Disease features -
Remarks -


Individuals

226 entries on 3 pages. Showing entries 1 - 100.
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00002432 - - - - - - - - 0 - - BSS - - - 0 1 Anna Savoia
00016596 - PubMed: Savoia 2011,PubMed: Savoia 2014 - - - ? (unknown) South America - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016597 - PubMed: Simsek 1994,PubMed: Savoia 2014 - - - Spain - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016598 - PubMed: Rand 2010,PubMed: Savoia 2014 - - - Portugal - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016599 - PubMed: Savoia 2014 - - - Italy - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016600 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016601 - PubMed: Savoia 2014 - - - Algeria - - 0 - - BSS - GP1BA GP1BA 2 2 Anna Savoia
00016615 - PubMed: Savoia 2014 - - - Italy - - 0 - - BSS - GP1BA GP1BA 1 2 Anna Savoia
00016616 - PubMed: Savoia 2014 - - - Tunisia - - 0 - - BSS - GP1BB GP1BB 1 2 Anna Savoia
00016618 - PubMed: Savoia 2014 - - - Canada - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016619 - PubMed: Savoia 2014 - - - India - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016620 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016621 - PubMed: Savoia 2014 - - - Morocco - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016622 - PubMed: Savoia 2014 - - - Turkey - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016623 - PubMed: Savoia 2014 - - - Turkey - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016624 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016625 - PubMed: Savoia 2014 - - - Algeria - - 0 - - BSS - GP1BA GP1BA 1 2 Anna Savoia
00016626 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - GP1BB GP1BB 1 2 Anna Savoia
00016627 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016628 - PubMed: Savoia 2014 - - - Algeria - - 0 - - BSS - GP1BA GP1BA 1 2 Anna Savoia
00016629 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016630 - PubMed: Savoia 2014 - - - Brazil;Japan - - 0 - - BSS - GP1BA GP1BA 2 1 Anna Savoia
00016631 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016632 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016633 - PubMed: Savoia 2014 - - - Germany - - 0 - - BSS - GP1BA GP1BA 2 2 Anna Savoia
00016635 - PubMed: Glembotsky 2012,PubMed: Savoia 2014 - - - Bolivia Indigenous - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016636 - PubMed: Afrasiabi 2007,PubMed: Savoia 2014 - - - Iran - - 0 - - BSS - GP1BA GP1BA 1 2 Anna Savoia
00016637 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016638 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016639 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016642 - PubMed: Gonzalez-Manchon 2003 - - - ? (unknown) - - 0 - - BSS - GP1BB GP1BB 1 2 Anna Savoia
00016643 - PubMed: Savoia 2014 - - - Lebanon - - 0 - - BSS - GP1BB GP1BB 1 2 Anna Savoia
00016644 - PubMed: Savoia 2014 - - - France - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016645 - PubMed: Savoia 2014 - - - Spain - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016646 - PubMed: Savoia 2014 - - - Mauritania - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016647 - PubMed: Savoia 2014 - - - Algeria - - 0 - - BSS - GP1BB GP1BB 1 3 Anna Savoia
00016648 - PubMed: Savoia 2014 - - - France - - 0 - - BSS - GP1BB GP1BB 2 1 Anna Savoia
00016649 - PubMed: Vettore 2008,PubMed: Savoia 2014 - - - Italy - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016650 - PubMed: Sumitha 2011,PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016651 - PubMed: Savoia 2011,PubMed: Savoia 2014 - - - Italy - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016652 - PubMed: Vettore 2011,PubMed: Savoia 2014 - - - Italy - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016653 - PubMed: de la Selle 1995, PubMed: Ulsemer 2000,PubMed: Savoia 2014 - - - Algeria - - 0 - - BSS - GP1BA GP1BA 1 3 Anna Savoia
00016654 - PubMed: Rosenberg 2007,PubMed: Savoia 2014 - - - Uzbekistan - - 0 - - BSS - GP1BA GP1BA 1 2 Anna Savoia
00016655 - PubMed: Imai 2009,PubMed: Savoia 2014 - - - Japan - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016657 - PubMed: Sumitha 2011,PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - GP1BA GP1BA 2 1 Anna Savoia
00016658 - PubMed: Kunishima 1994,PubMed: Savoia 2014 - - - Japan - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016659 - PubMed: Ware 1990 - - - ? (unknown) - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016663 - PubMed: Gohda 2007 - - - Japan - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016664 - PubMed: Li 1996 - - - ? (unknown) - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016665 - PubMed: Bartsch 2011 - - - ? (unknown) gypsy tribe - 0 - - BSS - GP1BB - 0 1 Anna Savoia
00016666 - PubMed: Strassel 2004 - - - Saudi Arabia - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016667 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016668 - PubMed: Ali 2014 - - - India - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016669 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016670 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016671 - PubMed: Ali 2014 - - - India - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016672 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016673 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016674 - PubMed: Simsek et al 1994 - - - ? (unknown) - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016675 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016676 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016677 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016678 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - GP1BB GP1BB 1 2 Anna Savoia
00016679 - PubMed: Ali 2014 - - - India - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016680 - PubMed: Hadjkacem 2010 - - - Tunisia - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016681 - PubMed: Li 1995 - - - - African-American - 0 - - BSS - GP1BA GP1BA 1 2 Anna Savoia
00016682 - PubMed: Hadjkacem 2009,PubMed: Hadjkacem 2010 - - - Tunisia - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016683 - PubMed: Antonucci 2000 - - - - African-American - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016684 - PubMed: De Marco 1990, PubMed: Ware 1993 - - - Italy - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016685 - PubMed: Ali 2014 - - - India - - 0 - - BSS - GP1BA GP1BA 1 2 Anna Savoia
00016686 - PubMed: Kanaji 1997 - - - ? (unknown) - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016687 - PubMed: Ali 2014 - - - India - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016688 - PubMed: Ali 2013 - - - India - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016689 - PubMed: Ali 2014 - - - India - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016690 - PubMed: Bowers 2006 - - - ? (unknown) - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016691 - PubMed: Ali 2014 - - - India - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016692 - PubMed: Ali 2013 - - - India - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016693 - PubMed: Gohda 2007 - - - Japan - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016694 - PubMed: Ali 2014 - - - India - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016695 - PubMed: Noda 1995 - - - ? (unknown) - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016699 - PubMed: Mitsui 1998 - - - ? (unknown) - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016700 - PubMed: Ali 2014 - - - India - - 0 - - BSS - GP1BA GP1BA 1 2 Anna Savoia
00016702 - PubMed: Kenny 1997 - - - Germany - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016704 - PubMed: Afshar-Kharghan 1997 - - - Germany - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016706 - PubMed: Koskela 1999 - - - Finland - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016712 - PubMed: Yamamoto 2013 - - - Japan - - 0 - - BSS - GP1BA GP1BA 1 1 Anna Savoia
00016714 - PubMed: Afshar-Kharghan 2000 - - - Germany - - 0 - - BSS - GP1BA GP1BA 2 1 Anna Savoia
00016715 - PubMed: Kenny 1998 - - - Iceland - - 0 - - BSS - GP1BA GP1BA 2 2 Anna Savoia
00016716 - PubMed: Koskela 1999 - - - Finland - - 0 - - BSS - GP1BA GP1BA 2 1 Anna Savoia
00016717 - PubMed: Margaglione 1999 - - - Italy - - 0 - - BSS - GP1BA GP1BA 2 1 Anna Savoia
00016718 - PubMed: Strassel 2003 - - - Algeria - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016719 - PubMed: Gonzalez-Manchon 2001 - - - Spain - - 0 - - BSS - GP1BA GP1BA 2 2 Anna Savoia
00016721 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016722 - PubMed: Yamamoto 2013 - - - Japan - - 0 - - BSS - GP1BA GP1BA 2 1 Anna Savoia
00016724 - PubMed: Kanaji 1997 - - - ? (unknown) - - 0 - - BSS - GP1BA GP1BA 2 1 Anna Savoia
00016725 - PubMed: Kunishima et al 2000 - - - Japan - - 0 - - BSS - - - 0 1 Anna Savoia
00016726 - PubMed: Kunishima 2000 - - - Japan - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016727 - PubMed: Kunishima 2002 - - - Japan - - 0 - - BSS - GP1BB GP1BB 1 1 Anna Savoia
00016728 - PubMed: Savoia 2014 - - - Spain - - 0 - - BSS - GP9 GP9 1 1 Anna Savoia
00016729 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - GP1BB GP1BA, GP1BB 3 1 Anna Savoia
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