Disease #00689 (SEDC (dysplasia, spondyloepiphyseal, congenita (SEDC)), OMIM:183900)

Official abbreviation SEDC
Name dysplasia, spondyloepiphyseal, congenita (SEDC)
OMIM ID 183900
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 141
Phenotype entries for this disease 129
Associated with 1 gene COL2A1
Associated tissues -
Disease features -
Remarks -


Individuals

141 entries on 2 pages. Showing entries 1 - 100.
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Disease     

Phenotype details     

Genes screened

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Owner     
00024278 - - 2-generation family, 4-affecteds (3F, M) - - United States - - 0 - - SEDC - COL2A1 COL2A1 1 4 Johan den Dunnen
00024300 - - - - - United States - - 0 - - SEDC - COL2A1 COL2A1 1 1 Johan den Dunnen
00024301 - - affected father and daugther - - Germany - - 0 - - SEDC - COL2A1 COL2A1 1 2 Johan den Dunnen
00024303 - - - - - ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Johan den Dunnen
00024315 - - - - - ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Johan den Dunnen
00024316 - - - - - ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Johan den Dunnen
00024321 - - - - - ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Johan den Dunnen
00024324 - - - - - ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Johan den Dunnen
00024325 - - - - - ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Johan den Dunnen
00024326 - - - - - ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Johan den Dunnen
00024378 - - - - - ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Johan den Dunnen
00024379 - - - - - ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Johan den Dunnen
00024395 - - - - - ? (unknown) - - 0 - - SEDC SEDC-S COL2A1 COL2A1 1 1 Johan den Dunnen
00024401 - - affected mother and 2 sons - - ? (unknown) - - 0 - - SEDC SEDC-S COL2A1 COL2A1 1 3 Johan den Dunnen
00024402 - - - - - ? (unknown) - - 0 - - SEDC SEDC-M COL2A1 COL2A1 1 1 Johan den Dunnen
00024404 - - - - - ? (unknown) - - 0 - - SEDC SEDC-S COL2A1 COL2A1 1 1 Johan den Dunnen
00024405 - - - - - ? (unknown) - - 0 - - SEDC SEDC-S COL2A1 COL2A1 1 1 Johan den Dunnen
00024406 - - - - - ? (unknown) - - 0 - - SEDC SEDC-S COL2A1 COL2A1 1 1 Johan den Dunnen
00024407 - - - - - ? (unknown) - - 0 - - SEDC SEDC-S COL2A1 COL2A1 1 1 Johan den Dunnen
00024408 - - - - - ? (unknown) - - 0 - - SEDC SEDC-S COL2A1 COL2A1 1 1 Johan den Dunnen
00024409 - - - - - ? (unknown) - - 0 - - SEDC SEDC-M COL2A1 COL2A1 1 1 Johan den Dunnen
00024410 - - - - - ? (unknown) - - 0 - - SEDC SEDC-S COL2A1 COL2A1 1 1 Johan den Dunnen
00024411 - - - - - ? (unknown) - - 0 - - SEDC SEDC-M like COL2A1 COL2A1 1 3 Johan den Dunnen
00024412 - - - - - ? (unknown) - - 0 - - SEDC SEDC-M like COL2A1 COL2A1 1 5 Johan den Dunnen
00024423 - - - - - ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Johan den Dunnen
00024449 - - - - - United Kingdom (Great Britain) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Johan den Dunnen
00024450 - - - - - United Kingdom (Great Britain) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Johan den Dunnen
00024451 - - - - - United Kingdom (Great Britain) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Johan den Dunnen
00024452 - - - - - United Kingdom (Great Britain) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Johan den Dunnen
00024507 - - - - ? (United Kingdom (Great Britain)) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024509 - - - - ? (United Kingdom (Great Britain)) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024534 - - - M - ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024539 - - - M - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024540 - - - F - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024541 - - - F - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024543 - - - F - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024544 - - - M - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024554 - - - M - ? (unknown) - - 0 - - SEDC - COL2A1 - 0 1 Isabelle Touitou
00024556 - - - M - ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024559 - - - F - (France) - - 0 - - SEDC - COL2A1 COL2A1 2 1 Mouna Barat-Houari
00024560 - - - M - ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024561 - - - F - ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024564 - - - M - ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024565 - - - F - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024695 - - - - ? (United Kingdom (Great Britain)) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024708 - PubMed: Hoornaert 2006 - F ? ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024709 - PubMed: Hoornaert 2006 - M ? ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024710 - PubMed: Hoornaert 2006 - F ? ? (unknown) - - 0 - - SEDC - COL2A1 COL2A1 1 3 Isabelle Touitou
00024760 - - - F yes China - - 0 - - SEDC - COL2A1 COL2A1 1 2 Isabelle Touitou
00024761 - - Father of F2:V-1 M yes China - - 0 - - SEDC - COL2A1 COL2A1 1 2 Isabelle Touitou
00024762 - - - M no China - - 0 - - SEDC - COL2A1 COL2A1 1 3 Isabelle Touitou
00024763 - - - M no China - - 0 - - SEDC - COL2A1 COL2A1 1 3 Isabelle Touitou
00024764 - - - M no China - - 0 - - SEDC - COL2A1 COL2A1 1 3 Isabelle Touitou
00024765 - - - M no China - - 0 - - SEDC - COL2A1 COL2A1 1 2 Isabelle Touitou
00024766 - - - F no China - - 0 - - SEDC - COL2A1 COL2A1 1 2 Isabelle Touitou
00024767 - - - F no China - - 0 - - SEDC - COL2A1 COL2A1 1 2 Isabelle Touitou
00024768 - - - M no China - - 0 - - SEDC - COL2A1 COL2A1 1 2 Isabelle Touitou
00024774 - - - ? no (United Kingdom (Great Britain)) - 0d 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024785 - - - M ? (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024796 - - - F - (France) - - 0 - - SEDC - COL2A1 - 0 2 Isabelle Touitou
00024797 - - - M - (France) - - 0 - - SEDC - COL2A1 - 0 2 Isabelle Touitou
00024799 - - - M - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024804 - - - F - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024807 - - - F - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024809 - - - M - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024829 - - - F - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024837 - - - F - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024839 - - - M - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024840 - - - F - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024844 - - - M - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024846 - - - M - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024852 - - - M - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024853 - - - F - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024858 - - - M - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024863 - PubMed: Barat-Houari - F ? (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024865 - - - F - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 2 Isabelle Touitou
00024866 - - - F - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 2 Isabelle Touitou
00024870 - - - F - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024873 - - - M - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024881 - - - M - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024883 - - - M - (France) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00024906 - - - - - ? (unknown) - - 0 - - SEDC SEDC-S COL2A1 COL2A1 1 1 Johan den Dunnen
00024907 - - - - - ? (unknown) - - 0 - - SEDC SEDC-M COL2A1 COL2A1 1 1 Johan den Dunnen
00024909 - - - - - ? (unknown) - - 0 - - SEDC SEDC-M COL2A1 COL2A1 1 1 Johan den Dunnen
00024910 - - - - - ? (unknown) - - 0 - - SEDC SEDC-M COL2A1 COL2A1 1 1 Johan den Dunnen
00024911 - - - - - ? (unknown) - - 0 - - SEDC SEDC-M COL2A1 COL2A1 1 1 Johan den Dunnen
00024913 - - - - - United Kingdom (Great Britain) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Johan den Dunnen
00024914 - - - - - United Kingdom (Great Britain) - - 0 - - SEDC - COL2A1 COL2A1 1 1 Johan den Dunnen
00024915 - - - - - ? (unknown) - - 0 - - SEDC SEDC-S COL2A1 COL2A1 1 1 Johan den Dunnen
00038422 - PubMed: Li 2014 - F ? Japan Japan - 0 - - SEDC - COL2A1 COL2A1 1 3 Isabelle Touitou
00038425 - PubMed: Mark 2011 - M ? (United States) - - 0 - - SEDC 18WG COL2A1 COL2A1 1 3 Isabelle Touitou
00038435 - PubMed: Nishimura 2005 - F ? - - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00038441 - PubMed: Nishimura 2005 - F ? - - - 0 - - SEDC - COL2A1 COL2A1 1 3 Isabelle Touitou
00038442 - PubMed: Nishimura 2005 - F ? - - - 0 - - SEDC - COL2A1 COL2A1 1 3 Isabelle Touitou
00038443 - PubMed: Nishimura 2005 - M ? - - - 0 - - SEDC - COL2A1 COL2A1 1 3 Isabelle Touitou
00038444 - PubMed: Nishimura 2005 - F ? - - - 0 - - SEDC - COL2A1 COL2A1 1 3 Isabelle Touitou
00038445 - PubMed: Nishimura 2005 - F ? - - - 0 - - SEDC - COL2A1 COL2A1 1 2 Isabelle Touitou
00038454 - PubMed: Nishimura 2005 - F ? - - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00038455 - PubMed: Nishimura 2005 - F ? - - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
00038456 - PubMed: Nishimura 2005 - M ? - - - 0 - - SEDC - COL2A1 COL2A1 1 1 Isabelle Touitou
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