Disease #01857

Official abbreviation VBCH
Name disease, van Buchem (VBCH, hyperostosis corticalis generalisata)
OMIM ID 239100
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 5
Phenotype entries for this disease 4
Associated with 1 gene SOST
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Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00107725 - PubMed: Van Hul 1998 extended 10-generation family, 13 affecteds (6F, 7M) F;M - Netherlands - - 0 - - VBCH van Buchem disease (hyperostosis corticalis generalisata) SOST SOST 1 13 Johan den Dunnen
00107726 11836356-Pat1 PubMed: Balemans 2002 father maternal grandmother and father paternal grandmother were brothers M yes Netherlands - - 0 - - VBCH van Buchem disease (hyperostosis corticalis generalisata), see paper; ... SOST SOST 1 1 Johan den Dunnen
00107727 11836356-Pat2 PubMed: Balemans 2002 2-generation family, affected sister/brother, Pat2 F yes Netherlands - - 0 - - VBCH van Buchem disease (hyperostosis corticalis generalisata) SOST SOST 1 2 Johan den Dunnen
00107728 11836356-Pat3 PubMed: Balemans 2002 Pat3 M yes Netherlands - - 0 - - VBCH van Buchem disease (hyperostosis corticalis generalisata) SOST SOST 1 1 Johan den Dunnen
00107732 - PubMed: Van Hul 1998 extended Dutch family (common acestor 9 generations ago) - - Netherlands - - 0 - - VBCH van Buchem disease (hyperostosis corticalis generalisata) SOST SOST 2 15 Johan den Dunnen
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