Disease #01708

Official abbreviation BOCD
Name chondrodysplasia, Blomstrand type (BOCD)
OMIM ID 215045
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 7
Phenotype entries for this disease 0
Associated with 1 gene PTH1R
Associated tissues -
Disease features -
Remarks -


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00095898 - PubMed: Hoogendam 2007 - F yes (Sweden) - 00y00m 0 - - BOCD - PTH1R PTH1R 1 1 Arrate Pereda
00095899 - PubMed: Hoogendam 2007 - M ? Turkey - 00y00m 0 - - BOCD - PTH1R PTH1R 1 1 Arrate Pereda
00095900 - PubMed: Hoogendam 2007 3 affected siblings born to parents who where first-degree cousins ? yes ? (unknown) Asian 00y00m 0 - - BOCD - PTH1R PTH1R 1 3 Arrate Pereda
00095901 - PubMed: Hoogendam 2007 - ? no ? (unknown) Asian 00y00m 0 - - BOCD - PTH1R PTH1R 1 1 Arrate Pereda
00095906 - PubMed: Young 2007 - F yes - Asian 00y00m 0 - - BOCD - PTH1R PTH1R 1 1 Arrate Pereda
00095907 - PubMed: Loshkajia 1997 - F no (France) - 00y00m 0 - - BOCD - PTH1R PTH1R 1 2 Arrate Pereda
00100373 - PubMed: den Hollander 1997 19-week-old fetus ? yes (Netherlands) Caucasian 00y00m 0 - - BOCD - PTH1R PTH1R 1 1 Arrate Pereda
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