Disease #00692

Official abbreviation SED
Name dysplasia, spondyloperipheral (SED)
OMIM ID 271700
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
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.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
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
Legend