Disease #00687

Official abbreviation Kniest
Name dysplasia, Kniest
OMIM ID 156550
Human Phenotype Ontology Project (HPO) HPO
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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AscendingIndividual ID     

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Genes screened

Variants in genes

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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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