Disease #00692

Official abbreviation SED
Name dysplasia, spondyloperipheral (SED)
OMIM ID 271700
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 37
Phenotype entries for this disease 37
Associated with 1 gene COL2A1
Associated tissues -
Disease features -
Remarks -


Individuals

37 entries on 1 page. Showing entries 1 - 37.
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00024286 - - - - - ? (unknown) - - 0 - - SED - COL2A1 COL2A1 1 1 Johan den Dunnen
00024292 - - - - - ? (unknown) - - 0 - - SED - COL2A1 COL2A1 1 1 Johan den Dunnen
00024305 - - - - - ? (unknown) - - 0 - - SED - COL2A1 COL2A1 1 1 Johan den Dunnen
00024307 - - - - - ? (unknown) - - 0 - - SED - COL2A1 COL2A1 1 1 Johan den Dunnen
00024309 - - - - - ? (unknown) - - 0 - - SED - COL2A1 COL2A1 1 1 Johan den Dunnen
00024313 - - - - - ? (unknown) - - 0 - - SED - COL2A1 COL2A1 1 1 Johan den Dunnen
00024334 - - - - - ? (unknown) - - 0 - - SED - COL2A1 COL2A1 1 1 Johan den Dunnen
00024347 - PubMed: Mortier 2000 - F - United States - 00y00m04d 0 - - SED see paper; ... COL2A1 COL2A1 1 1 Johan den Dunnen
00024363 - - - F - United States - - 0 - - SED - COL2A1 COL2A1 1 1 Johan den Dunnen
00024380 - - - F no ? (unknown) - - 0 - - SED - COL2A1 COL2A1 1 1 Isabelle Touitou
00024381 - - - M no ? (unknown) - - 0 - - SED - COL2A1 COL2A1 1 1 Isabelle Touitou
00024403 - - - - - ? (unknown) - - 0 - - SED spondyloepiphyseal dysplasia tarda COL2A1 COL2A1 1 1 Johan den Dunnen
00024413 - - - - - ? (unknown) - - 0 - - SED - COL2A1 COL2A1 1 3 Johan den Dunnen
00024441 - - - - - ? (unknown) - - 0 - - SED - COL2A1 COL2A1 1 1 Johan den Dunnen
00024442 - - - - - ? (unknown) - - 0 - - SED - COL2A1 COL2A1 1 1 Johan den Dunnen
00024443 - - - - - ? (unknown) - - 0 - - SED - COL2A1 COL2A1 1 1 Johan den Dunnen
00024444 - - - - - ? (unknown) - - 0 - - SED - COL2A1 COL2A1 1 1 Johan den Dunnen
00024445 - - - - - ? (unknown) - - 0 - - SED - COL2A1 COL2A1 1 1 Johan den Dunnen
00024453 - - - - - United Kingdom (Great Britain) - - 0 - - SED - COL2A1 COL2A1 1 1 Johan den Dunnen
00024470 - - - - - ? (unknown) - - 0 - - SED - COL2A1 COL2A1 1 1 Johan den Dunnen
00024537 - - - F - (France) - - 0 - - SED - COL2A1 COL2A1 1 1 Isabelle Touitou
00024770 - - - M ? China - - 0 - - SED - COL2A1 COL2A1 1 1 Isabelle Touitou
00024771 - - - F ? China - - 0 - - SED - COL2A1 COL2A1 1 1 Isabelle Touitou
00024772 - - - F ? China - - 0 - - SED - COL2A1 COL2A1 1 1 Isabelle Touitou
00024834 - - - M - (France) - - 0 - - SED - COL2A1 COL2A1 1 2 Isabelle Touitou
00024835 - - - F - (France) - - 0 - - SED - COL2A1 COL2A1 1 2 Isabelle Touitou
00024908 - - - - - ? (unknown) - - 0 - - SED spondyloepiphyseal dysplasia tarda COL2A1 COL2A1 1 1 Johan den Dunnen
00024912 - - - - - ? (unknown) - - 0 - - SED - COL2A1 COL2A1 1 1 Johan den Dunnen
00024916 - - - - - ? (unknown) - - 0 - - SED spondyloepiphyseal dysplasia tarda COL2A1 COL2A1 1 1 Johan den Dunnen
00038403 - PubMed: Bedeschi 2011 - F no (Italy) - - 0 - - SED - COL2A1 COL2A1 1 2 Isabelle Touitou
00038404 - PubMed: Bedeschi 2011 - M no (Italy) - - 0 - - SED 18WG COL2A1 COL2A1 1 2 Isabelle Touitou
00038412 - PubMed: Desir 2012 - F ? (Belgium) - - 0 - - SED - COL2A1 COL2A1 1 2 Isabelle Touitou
00038440 - PubMed: Nishimura 2005 - F ? - - - 0 - - SED - COL2A1 COL2A1 1 1 Isabelle Touitou
00038452 - PubMed: Nishimura 2005 - M ? - - - 0 - - SED - COL2A1 COL2A1 1 1 Isabelle Touitou
00038453 - PubMed: Nishimura 2005 - F ? - - - 0 - - SED - COL2A1 COL2A1 1 1 Isabelle Touitou
00038480 - PubMed: Zhang 2013 - F no China - - 0 - - SED - COL2A1 COL2A1 1 1 Isabelle Touitou
00117464 - PubMed: Nakashima 2016 - F no (Japan) Asian - 0 - - SED Odontoid process hypoplasia, Platyspondyly, Atlantoaxial subluxation, Shoulder OA, hip deformation COL2A1 COL2A1 1 7 Mouna Barat-Houari
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