Disease #00690 (SEMDSTWK (dysplasia, spondyloepimetaphyseal, Strudwick type (SEMDSTWK)), OMIM:184250)

Official abbreviation SEMDSTWK
Name dysplasia, spondyloepimetaphyseal, Strudwick type (SEMDSTWK)
OMIM ID 184250
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 28
Phenotype entries for this disease 27
Associated with 1 gene COL2A1
Associated tissues -
Disease features -
Remarks -


Individuals

28 entries on 1 page. Showing entries 1 - 28.
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00024289 - - - - - ? (unknown) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Johan den Dunnen
00024290 - - - - - ? (unknown) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Johan den Dunnen
00024291 - - - - - ? (unknown) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Johan den Dunnen
00024373 - - - - - ? (unknown) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Johan den Dunnen
00024374 - - - - - ? (unknown) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Johan den Dunnen
00024448 - - - - - United Kingdom (Great Britain) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Johan den Dunnen
00024535 - - - M - ? (unknown) - - 0 - - SEMDSTWK - COL2A1 COL2A1 2 1 Isabelle Touitou
00024536 - - - M - (France) - - 0 - - SEMDSTWK severe myopia deafness short stature COL2A1 COL2A1 1 1 Isabelle Touitou
00024552 - - - M - ? (unknown) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Isabelle Touitou
00024562 - - - M - ? (unknown) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Isabelle Touitou
00024563 - - - M - ? (unknown) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Isabelle Touitou
00024808 - - - M - (France) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Isabelle Touitou
00024816 - - - M - (France) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Isabelle Touitou
00024832 - - - M - (France) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Isabelle Touitou
00024843 - - - F - (France) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Isabelle Touitou
00024849 - - - M - (France) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Isabelle Touitou
00024856 - - - M - (France) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Isabelle Touitou
00024857 - - - M - (France) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Isabelle Touitou
00024882 - - - F - (France) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Isabelle Touitou
00024897 - - - M - (France) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Isabelle Touitou
00024920 - - - - - United Kingdom (Great Britain) - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Johan den Dunnen
00038427 - PubMed: Meredith 2007 - M ? - - - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Isabelle Touitou
00111655 - - - M ? (France) - - 0 - - SEMDSTWK scoliosis, hip dislocation, hip prothesis COL2A1 COL2A1 1 1 Mouna Barat-Houari
00117362 - - - M ? (France) - - 0 - - SEMDSTWK myopia, fangs agenesia COL2A1 COL2A1 1 1 Mouna Barat-Houari
00117366 - - - F - (China) - - 0 - - SEMDSTWK disproportional short stature, short neck, pectus carinatum, genu varum, bilateral pes planus, and obvious waddling gait COL2A1 COL2A1 1 3 Mouna Barat-Houari
00117472 - PubMed: Zhang 2015 - F ? (China) Asian - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Mouna Barat-Houari
00117506 - PubMed: Zhang 2015 - F ? (China) Asian - 0 - - SEMDSTWK - COL2A1 COL2A1 1 1 Mouna Barat-Houari
00359342 - - - - - Brazil - - - - - SEMDSTWK - COL2A1 COL2A1 1 1 Karina Silveira
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