Disease #01265

Official abbreviation -
Name dystrophy, corneal, crystalline, Schnyder
OMIM ID 121800
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 52
Phenotype entries for this disease 52
Associated with 1 gene UBIAD1
Associated tissues -
Disease features -
Remarks -


Individuals

52 entries on 1 page. Showing entries 1 - 52.
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00204230 - Nickerson et al., 2010 - ? - Canada Irish-French Canadian - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204231 - Jing et al., 2009 - ? - China Chinese - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204232 - PubMed: Orr 2007 - ? - Italy Italian - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204233 - Weiss et al., 2007 - ? - United Kingdom (Great Britain) British - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204234 - Weiss et al., 2007 - ? - United Kingdom (Great Britain) British - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204235 - Weiss et al., 2007 - ? - United States American - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204236 - Weiss et al., 2007 - ? - United States American - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204237 - Weiss et al., 2007 - ? - Germany German - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204238 - Yellore et al., 2007 - ? - Ireland Irish - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204239 - PubMed: Weiss 2008 - ? - Czech Republic Czechoslavakian - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204240 - Weiss et al., 2008 - ? - China Chinese-Taiwan - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204241 - Weiss et al., 2008 - ? - Germany German - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204242 - Weiss et al., 2008 - ? - United States American - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204243 - - - ? - United States American - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204244 - Weiss et al., 2008 - ? - United States American - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204245 - Nickerson et al., 2010 - ? - Japan Japan - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204246 - Nickerson et al., 2010 - ? - United States American - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204247 - Nickerson et al., 2010 - ? - United States American - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204248 - Nickerson et al., 2010 - ? - United States American - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204249 - Nickerson et al., 2010 - ? - United States American - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204250 - Nickerson et al., 2010 - ? - France French-British-CAf - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204251 - PubMed: Orr 2007 - ? - India Indian - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204252 - Weiss et al., 2008 - ? - United States American - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholestrol and lipid in the cornea lead to loss of visual acuity UBIAD1 UBIAD1 1 1 Mike Nickerson
00204253 - PubMed: Orr 2007 5-generation family ? - Canada Spanish?-Canadian - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholesterol and lipid in the cornea lead to loss of visual acuity. UBIAD1 UBIAD1 1 1 Mike Nickerson
00204254 - PubMed: Yellore 2007 - ? - United States African-American - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholesterol and lipid in the cornea lead to loss of visual acuity. UBIAD1 UBIAD1 1 1 Mike Nickerson
00204255 - Yellore et al., 2007 - ? - Egypt Egyptian - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholesterol and lipid in the cornea lead to loss of visual acuity. UBIAD1 UBIAD1 1 1 Mike Nickerson
00204256 - Weiss et al., 2008 - ? - United Kingdom (Great Britain) British - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholesterol and lipid in the cornea lead to loss of visual acuity. UBIAD1 UBIAD1 1 1 Mike Nickerson
00204257 - Weiss et al., 2008 - ? - United States American - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholesterol and lipid in the cornea lead to loss of visual acuity. UBIAD1 UBIAD1 1 1 Mike Nickerson
00204258 - Al-Ghadeer et al, 2011 - ? - Saudi Arabia Saudi Arabian - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholesterol and lipid in the cornea lead to loss of visual acuity. UBIAD1 UBIAD1 1 1 Mike Nickerson
00204259 - Nickerson et al., 2010 - ? - United States Native American - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholesterol and lipid in the cornea lead to loss of visual acuity. UBIAD1 UBIAD1 1 1 Mike Nickerson
00204260 - Nickerson et al., 2010 - ? - Finland Finnish - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholesterol and lipid in the cornea lead to loss of visual acuity. UBIAD1 UBIAD1 1 1 Mike Nickerson
00204261 - PubMed: Weiss 2008 - ? - Germany German - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholesterol and lipid in the cornea lead to loss of visual acuity. UBIAD1 UBIAD1 1 1 Mike Nickerson
00204262 - Mehta et al., 2009 - ? - China Chinese - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholesterol and lipid in the cornea lead to loss of visual acuity. UBIAD1 UBIAD1 1 1 Mike Nickerson
00204263 - Kobayashi et al, 2009 - ? - Japan Japanese - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholesterol and lipid in the cornea lead to loss of visual acuity. UBIAD1 UBIAD1 1 1 Mike Nickerson
00204264 - PubMed: Orr 2007 family, 2 affecteds ? - Swaziland Scotish - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholesterol and lipid in the cornea lead to loss of visual acuity. UBIAD1 UBIAD1 1 2 Mike Nickerson
00204265 - PubMed: Weiss 2008 family, 8 affecteds ? - United States Hungarian-American - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholesterol and lipid in the cornea lead to loss of visual acuity. UBIAD1 UBIAD1 1 8 Mike Nickerson
00204266 - PubMed: Weiss 2008 - ? - Taiwan Chinese-Taiwan - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholesterol and lipid in the cornea lead to loss of visual acuity. UBIAD1 UBIAD1 1 1 Mike Nickerson
00204267 - PubMed: Weiss 2008 - ? - - Kosovar - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholesterol and lipid in the cornea lead to loss of visual acuity. UBIAD1 UBIAD1 1 1 Mike Nickerson
00204268 - PubMed: Weiss 2007 - ? - United States American - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal accumulation of cholesterol and lipid in the cornea lead to loss of visual acuity. UBIAD1 UBIAD1 1 1 Mike Nickerson
00204269 - Nickerson et al. 2012 - ? no (Finland) Swedish - 0 - - dystrophy, corneal, crystalline, Schnyder Hypercholesterolemia in most patients. UBIAD1 UBIAD1 1 1 Mike Nickerson
00204270 - - - ? no Finland Swedish - 0 - - dystrophy, corneal, crystalline, Schnyder Abnormal deposition of cholesterol and lipids in the cornea. UBIAD1 UBIAD1 1 1 Mike Nickerson
00204271 - - - ? no Finland Swedish - 0 - - dystrophy, corneal, crystalline, Schnyder - UBIAD1 UBIAD1 1 1 Mike Nickerson
00204272 - - - ? no Finland Swedish - 0 - - dystrophy, corneal, crystalline, Schnyder - UBIAD1 UBIAD1 1 1 Mike Nickerson
00204273 - Nickerson et al. 2012 - ? no Japan Japanese - 0 - - dystrophy, corneal, crystalline, Schnyder - UBIAD1 UBIAD1 1 1 Mike Nickerson
00204274 - Nickerson et al. 2012 - ? no Turkey Turkish - 0 - - dystrophy, corneal, crystalline, Schnyder - UBIAD1 UBIAD1 1 1 Mike Nickerson
00204275 - Kobayashi et al, 2009 - ? - Japan Japanese - 0 - - dystrophy, corneal, crystalline, Schnyder - UBIAD1 UBIAD1 1 1 Mike Nickerson
00204276 - PubMed: Weiss 2008 - ? - United States German-American - 0 - - dystrophy, corneal, crystalline, Schnyder - UBIAD1 UBIAD1 1 1 Mike Nickerson
00204277 - Nickerson et al., 2010 - ? - Taiwan Chinese-Taiwan - 0 - - dystrophy, corneal, crystalline, Schnyder - UBIAD1 UBIAD1 1 1 Mike Nickerson
00204278 - PubMed: Orr 2007 - ? - Canada Canadian - 0 - - dystrophy, corneal, crystalline, Schnyder - UBIAD1 UBIAD1 1 1 Mike Nickerson
00204279 - Kobayashi et al, 2009 - ? - Japan Japanese - 0 - - dystrophy, corneal, crystalline, Schnyder - UBIAD1 UBIAD1 1 1 Mike Nickerson
00204280 - Weiss et al., 2008 - ? - United States African-American - 0 - - dystrophy, corneal, crystalline, Schnyder - UBIAD1 UBIAD1 1 1 Mike Nickerson
00204281 - Weiss et al., 2010 - ? - United States American - 0 - - dystrophy, corneal, crystalline, Schnyder - UBIAD1 UBIAD1 1 1 Mike Nickerson
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