Disease #00686 (STL1 (Stickler syndrome, type I (STL-1)), OMIM:108300)

Official abbreviation STL1
Name Stickler syndrome, type I (STL-1)
OMIM ID 108300
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 474
Phenotype entries for this disease 468
Associated with 1 gene COL2A1
Associated tissues -
Disease features -
Remarks -


Individuals

474 entries on 5 pages. Showing entries 1 - 100.
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00024284 - - - - - ? (unknown) - - 0 - - STL1 arthroophthalmopathy COL2A1 COL2A1 1 1 Johan den Dunnen
00024285 - PubMed: Ahmad 1991 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024288 - - - - - ? (unknown) - - 0 - - STL1 arthroophthalmopathy COL2A1 COL2A1 1 1 Johan den Dunnen
00024293 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024308 - - - M no Finland - - 0 - - STL1 - COL2A1 COL2A1 1 4 Isabelle Touitou
00024310 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024311 - PubMed: Ahmad 1993 mother of patient IV-1 and IV-5 F - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 3 Johan den Dunnen
00024323 - PubMed: Ballo 1998 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 4 Johan den Dunnen
00024327 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024328 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024329 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024330 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024331 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024332 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024333 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024335 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024336 - PubMed: Richards 2000, PubMed: Richards 2006 - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 Significant auditory and skeletal abnormalities COL2A1 COL2A1 1 2 Isabelle Touitou
00024340 - PubMed: Richards 2000, PubMed: Richards 2006 - - no (United Kingdom (Great Britain)) - - 0 - - STL1 Significant auditory and skeletal abnormalities COL2A1 COL2A1 1 3 Isabelle Touitou
00024341 - - - - no (United Kingdom (Great Britain)) - - 0 - - STL1 Significant auditory and skeletal abnormalities COL2A1 COL2A1 1 3 Isabelle Touitou
00024342 - - - - no (United Kingdom (Great Britain)) - - 0 - - STL1 Significant auditory and skeletal abnormalities COL2A1 COL2A1 1 2 Isabelle Touitou
00024360 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024361 - PubMed: Liberfarb 2003 - F no (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024362 - - - - no (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 9 Isabelle Touitou
00024366 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024367 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024368 - PubMed: Liberfarb 2003 - - ? (United States) - - 0 - - STL1 - COL2A1 COL2A1 1 11 Isabelle Touitou
00024369 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024370 - PubMed: Liberfarb 2003 - - ? (United States) - - 0 - - STL1 - COL2A1 COL2A1 1 4 Isabelle Touitou
00024371 - PubMed: Liberfarb 2003 - - ? (United States) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024372 - PubMed: Nishimura 2005 - - ? (United States) - - 0 - - STL1 - COL2A1 COL2A1 1 8 Isabelle Touitou
00024382 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024390 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024414 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 2 Johan den Dunnen
00024416 - PubMed: Hoornaert 2006 - M - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024417 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024418 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024422 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024425 - - family, affected father and son M - United States - - 0 - - STL1 - COL2A1 COL2A1 1 2 Johan den Dunnen
00024426 - - - - - United Kingdom (Great Britain) - - 0 - - STL1 - COL2A1 COL2A1 1 2 Isabelle Touitou
00024427 - - - - - (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 2 Isabelle Touitou
00024428 - PubMed: Richards 2006 - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 2 Isabelle Touitou
00024429 - PubMed: Richards 2006 - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024430 - - - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 4 Isabelle Touitou
00024431 - PubMed: Richards 2006 - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 2 Isabelle Touitou
00024432 - - - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 2 Isabelle Touitou
00024433 - PubMed: Richards 2006 - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024434 - PubMed: Richards 2007 - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 3 Isabelle Touitou
00024435 - - - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 4 Isabelle Touitou
00024436 - - - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 2 Isabelle Touitou
00024437 - - - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 5 Isabelle Touitou
00024438 - - - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 3 Isabelle Touitou
00024439 - - - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 3 Isabelle Touitou
00024440 - - - - - (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 4 Isabelle Touitou
00024454 - PubMed: Richards 2007 - M - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 4 Isabelle Touitou
00024455 - {PMID17437277:Richards 2007} - M - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 2 Isabelle Touitou
00024456 - PubMed: Richards 2007 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 7 Isabelle Touitou
00024460 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024461 - - - - - Brazil - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024462 - - - - ? Brazil - - 0 - - STL1 - COL2A1 COL2A1 1 2 Johan den Dunnen
00024463 - PubMed: Zechi-Ceide 2008 - - ? Brazil - - 0 - - STL1 - COL2A1 COL2A1 1 2 Johan den Dunnen
00024464 - PubMed: Zechi-Ceide 2008 - - ? Brazil - - 0 - - STL1 - COL2A1 COL2A1 1 4 Johan den Dunnen
00024465 - PubMed: Zechi-Ceide 2008 - - ? Brazil - - 0 - - STL1 - COL2A1 COL2A1 1 5 Johan den Dunnen
00024466 - PubMed: Zechi-Ceide 2008 - ? ? Brazil - - 0 - - STL1 - COL2A1 COL2A1 1 20 Johan den Dunnen
00024467 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 - 0 1 Johan den Dunnen
00024468 - - - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 2 Isabelle Touitou
00024469 - - - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024471 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024472 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024473 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024474 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024475 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024476 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024477 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024478 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024479 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024480 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024481 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024482 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024483 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024484 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024485 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024486 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024487 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024488 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024489 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024490 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024491 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024492 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024493 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024494 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024495 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024496 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024497 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024498 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024499 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024500 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024501 - PubMed: Hoornaert 2010 - - - ? (unknown) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024502 - - - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024503 - - - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 2 Isabelle Touitou
00024504 - - - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 - COL2A1 COL2A1 1 1 Isabelle Touitou
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