Disease #00421

Official abbreviation CORD-3
Name dystrophy, cone rod, type 3 (CORD-3)
OMIM ID 604116
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene ABCA4
Associated tissues -
Disease features -
Remarks -


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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     
00016875 - PubMed: Zernant 2014 - - - United States African American - 0 - - CORD-3 Stargardt disease; Visual acuity: OD 20/400, OS 20/400, Resorption of flecks. Choriocapillaris atrophy within the macula was often observed in these patients.. ABCA4 ABCA4 2 1 Jana Zernant
00016897 - PubMed: Zernant 2014 - - - United States African American - 0 - - CORD-3 cone-rod dystrophy (HP:0000510); Visual acuity: OD count fingers, OS count fingers, Resorption of flecks. Choriocapillaris atrophy within the macula was often observed in these patients.. ABCA4 ABCA4 2 1 Jana Zernant
00016900 - PubMed: Zernant 2014 - - - United States African American - 0 - - CORD-3 cone-rod dystrophy (HP:0000510); Visual acuity: OD count fingers, OS count fingers, Resorption of flecks. Choriocapillaris atrophy within the macula was often observed in these patients.. ABCA4 ABCA4 3 1 Jana Zernant
00016909 - PubMed: Zernant 2014 - - - United States African American - 0 - - CORD-3 - ABCA4 ABCA4 2 1 Jana Zernant
00016917 - PubMed: Zernant 2014 - - - United States African American - 0 - - CORD-3 cone-rod dystrophy (HP:0000510); Visual acuity: OD 5/180+1, OS 5/160+1. ABCA4 ABCA4 1 1 Jana Zernant
Legend