Disease #02494

Official abbreviation CTRCT-2;CCL
Name cataract, type 2 (CTRCT-2, Coppock-like (CCL))
OMIM ID 604307
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 9
Phenotype entries for this disease 3
Associated with 1 gene CRYGC
Associated tissues -
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Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00033858 - PubMed: Heon 1998 4-generation family, 18 affecteds - - Switzerland;Macedonia - - 0 - - CTRCT-2;CCL cataract, Coppock-like; aculeiform cataract CRYGC CRYGC 1 18 Johan den Dunnen
00033969 - PubMed: Heon 1998 5-generation family, 4 affecteds - - Switzerland - - 0 - - CTRCT-2;CCL cataract, Coppock-like; aculeiform cataract CRYGC CRYGC 1 4 Johan den Dunnen
00033970 - PubMed: Heon 1998 4-generation family, 3 affecteds - - Switzerland - - 0 - - CTRCT-2;CCL cataract, Coppock-like; aculeiform cataract CRYGC CRYGC 1 3 Johan den Dunnen
00072253 - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, II3 F - China Chinese - 0 - - CTRCT-16;CTPP-2, CTRCT-2;CCL poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532) CRYAB CRYAB 1 6 Jamie Zeegers
00072254 - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, II4 M - China Chinese >17y 0 - - CTRCT-16;CTPP-2, CTRCT-2;CCL poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532) CRYAB CRYAB 1 1 Jamie Zeegers
00072255 - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, III1 M - China Chinese >20y 0 - - CTRCT-16;CTPP-2, CTRCT-2;CCL poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532) CRYAB CRYAB 1 1 Jamie Zeegers
00072256 - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, III4 F - China Chinese >19y 0 - - CTRCT-16;CTPP-2, CTRCT-2;CCL poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532) CRYAB CRYAB 1 1 Jamie Zeegers
00072257 - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, IV2 M - China Chinese >11y 0 - - CTRCT-16;CTPP-2, CTRCT-2;CCL poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532) CRYAB CRYAB 1 1 Jamie Zeegers
00072258 - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, IV5 F - China Chinese >08y 0 - - CTRCT-16;CTPP-2, CTRCT-2;CCL poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532) CRYAB CRYAB 1 1 Jamie Zeegers
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