Disease #00687 (Kniest (dysplasia, Kniest), OMIM:156550)

Official abbreviation Kniest
Name dysplasia, Kniest
OMIM ID 156550
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 22
Phenotype entries for this disease 20
Associated with 1 gene COL2A1
Associated tissues -
Disease features -
Remarks -


Individuals

22 entries on 1 page. Showing entries 1 - 22.
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00024304 - - - - - United States - - 0 - - Kniest - COL2A1 COL2A1 1 1 Johan den Dunnen
00024320 - - - - - ? (unknown) - - 0 - - Kniest - COL2A1 COL2A1 1 1 Johan den Dunnen
00024322 - - - - - ? (unknown) - - 0 - - Kniest - COL2A1 COL2A1 1 1 Johan den Dunnen
00024424 - - - - - United Kingdom (Great Britain) - - 0 - - Kniest - COL2A1 COL2A1 1 1 Johan den Dunnen
00024446 - - - - - United Kingdom (Great Britain) - - 0 - - Kniest - COL2A1 COL2A1 1 1 Johan den Dunnen
00024447 - - - - - United Kingdom (Great Britain) - - 0 - - Kniest - COL2A1 COL2A1 1 1 Johan den Dunnen
00024899 - - - - - ? (unknown) - - 0 - - Kniest - COL2A1 COL2A1 1 1 Johan den Dunnen
00024901 - - - - - United Kingdom (Great Britain) - - 0 - - Kniest - COL2A1 COL2A1 1 1 Johan den Dunnen
00024902 - - - - - United Kingdom (Great Britain) - - 0 - - Kniest - COL2A1 COL2A1 1 1 Johan den Dunnen
00024917 - - - - - United States - - 0 - - Kniest - COL2A1 COL2A1 1 1 Johan den Dunnen
00024918 - - - - - ? (unknown) - - 0 - - Kniest - COL2A1 COL2A1 1 1 Johan den Dunnen
00038410 - PubMed: Chen 1996 - ? ? - - - 0 - - Kniest - COL2A1 COL2A1 1 1 Isabelle Touitou
00038428 - PubMed: Meredith 2007 - M ? - - - 0 - - Kniest - COL2A1 COL2A1 1 1 Isabelle Touitou
00038429 - PubMed: Meredith 2007 - M ? - - - 0 - - Kniest - COL2A1 COL2A1 1 1 Isabelle Touitou
00038430 - PubMed: Meredith 2007 - M ? - - - 0 - - Kniest - COL2A1 COL2A1 1 1 Isabelle Touitou
00038438 - PubMed: Nishimura 2005 - M ? - - - 0 - - Kniest - COL2A1 COL2A1 1 1 Isabelle Touitou
00038473 - PubMed: Wada 2011 - F ? - - - 0 - - Kniest - COL2A1 COL2A1 1 1 Isabelle Touitou
00038475 - PubMed: Wilkin 1999 - ? ? - - - 0 - - Kniest - COL2A1 COL2A1 1 1 Isabelle Touitou
00038476 - PubMed: Wilkin 1999 - ? ? - - - 0 - - Kniest - COL2A1 COL2A1 1 1 Isabelle Touitou
00111694 - - - F no (France) - <00y00m 0 28 WG - Kniest - COL2A1 COL2A1 1 1 Mouna Barat-Houari
00117342 - - - M ? (France) - - 0 - - Kniest - COL2A1 COL2A1 1 1 Mouna Barat-Houari
00132066 8 - - F no Brazil - - 0 - - Kniest - COL2A1 COL2A1 1 1 Karina Silveira
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