Disease #00112

Official abbreviation RP;RCD
Name retinitis pigmentosa (RP, rod-cone dystrophy (RCD))
OMIM ID 268000
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 63
Phenotype entries for this disease 19
Associated with 1 gene NR2E3
Associated tissues -
Disease features -
Remarks -


Individuals

63 entries on 1 page. Showing entries 1 - 63.
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00001781 - - - - - (United States) - - 0 - - RP;RCD - - RHO 1 1 Feng Wang
00001782 - - - - - (United States) - - 0 - - RP;RCD - - RPGR 1 1 Feng Wang
00001783 - - - - - (United States) - - 0 - - RP;RCD - - PRPH2, ROM1 2 1 Feng Wang
00001784 - - - - - (United States) - - 0 - - RP;RCD - - PRPF31 1 1 Feng Wang
00001785 - - - - - (United States) - - 0 - - RP;RCD - - USH2A 1 1 Feng Wang
00001786 - - - - - (United States) - - 0 - - RP;RCD - - RPE65 1 1 Feng Wang
00001787 - - - - - (United States) - - 0 - - RP;RCD - - BBS1 1 1 Feng Wang
00001788 - - - - - (United States) - - 0 - - RP;RCD - - BBS1 1 1 Feng Wang
00001789 - - - - - (United States) - - 0 - - RP;RCD - - RDH12 2 1 Feng Wang
00001790 - - - - - (United States) - - 0 - - RP;RCD - - RDH12 2 1 Feng Wang
00001791 - - - - - (United States) - - 0 - - RP;RCD - - ABCA4 4 1 Feng Wang
00001792 - - - - - (United States) - - 0 - - RP;RCD - - SNRNP200 1 1 Feng Wang
00001793 - - - - - (United States) - - 0 - - RP;RCD - - PDE6A 2 1 Feng Wang
00001794 - - - - - (United States) - - 0 - - RP;RCD - - USH2A 2 1 Feng Wang
00001795 - PubMed: Wang 2014a - - - (United States) - - 0 - - RP;RCD - - MERTK 1 1 Feng Wang
00001796 - PubMed: Wang 2014a - - - (United States) - - 0 - - RP;RCD - - MERTK 1 1 Feng Wang
00001797 - - - - - (United States) - - 0 - - RP;RCD - - RPGR 1 1 Feng Wang
00001798 - - - - - (United States) - - 0 - - RP;RCD - - - 0 1 Feng Wang
00001799 - - - - - (United States) - - 0 - - RP;RCD - - PRPF31 1 1 Feng Wang
00001800 - - - - - (United States) - - 0 - - RP;RCD - - RPGR 1 1 Feng Wang
00001801 - - - - - (United States) - - 0 - - RP;RCD - - CRX 1 1 Feng Wang
00001802 - - - - - (United States) - - 0 - - RP;RCD - - RGR 1 1 Feng Wang
00001803 - - - - - (United States) - - 0 - - RP;RCD - - PRPF31 1 1 Feng Wang
00001804 - - - - - (United States) - - 0 - - RP;RCD - - PROM1 2 1 Feng Wang
00001805 - - - - - (United States) - - 0 - - RP;RCD - - CNGA1 2 1 Feng Wang
00001806 - - - - - (United States) - - 0 - - RP;RCD - - PRPF8 1 1 Feng Wang
00001807 - - - - - (United States) - - 0 - - RP;RCD - - PROM1 2 1 Feng Wang
00001808 - - - - - (United States) - - 0 - - RP;RCD - - PDE6B 2 1 Feng Wang
00001809 - - - - - (United States) - - 0 - - RP;RCD - - ABCA4 2 1 Feng Wang
00001810 - - - - - (United States) - - 0 - - RP;RCD - - PRCD 1 1 Feng Wang
00001811 - - - - - (United States) - - 0 - - RP;RCD - - USH2A 2 1 Feng Wang
00001812 - - - - - (United States) - - 0 - - RP;RCD - - TULP1 2 1 Feng Wang
00001813 - - - - - (United States) - - 0 - - RP;RCD - - RDH12 2 1 Feng Wang
00001814 - - - - - (United States) - - 0 - - RP;RCD - - NPHP1 1 1 Feng Wang
00001815 - - - - - (United States) - - 0 - - RP;RCD - - RDH5 1 1 Feng Wang
00001816 - - - - - (United States) - - 0 - - RP;RCD - - CYP4V2 2 1 Feng Wang
00001817 - - - - - (United States) - - 0 - - RP;RCD - - CYP4V2 2 1 Feng Wang
00001818 - - - - - (United States) - - 0 - - RP;RCD - - CYP4V2 2 1 Feng Wang
00001819 - - - - - (United States) - - 0 - - RP;RCD - - BBS2 1 1 Feng Wang
00001820 - - - - - (United States) - - 0 - - RP;RCD - - JAG1 1 1 Feng Wang
00001821 - - - - - (United States) - - 0 - - RP;RCD - - NPHP4 2 1 Feng Wang
00001822 - - - - - (United States) - - 0 - - RP;RCD - - CYP4V2 2 1 Feng Wang
00001823 - - - - - (United States) - - 0 - - RP;RCD - - BBS5 1 1 Feng Wang
00001824 - - - - - (United States) - - 0 - - RP;RCD - - CDHR1 1 1 Feng Wang
00001825 - - - - - (United States) - - 0 - - RP;RCD - - GPR98 2 1 Feng Wang
00001826 - - - - - (United States) - - 0 - - RP;RCD - - USH1C 2 1 Feng Wang
00001827 - - - - - (United States) - - 0 - - RP;RCD - - CLN3 2 1 Feng Wang
00003028 - - - - - - - - 0 - - RP;RCD - USH2A USH2A 2 1 Marcel Nelen
00003093 - - - M yes United Kingdom (Great Britain) Caucasian - 0 - - obesity, RP;RCD - TUB - 0 1 Laura Pearce
00016423 - - - F yes Libya - - 0 - - RP;RCD ataxia, retinal dystrophy, neuropathy PDE6A, SH3TC2 PDE6A, SH3TC2 2 1 Jill Urquhart
00016542 - PubMed: Coussa 2013 - F ? Canada Quebec - 0 - - RP;RCD characteristic arRP findings with hypopigmented macular atrophy and 'bear track' changes WDR19 WDR19 2 1 Heleen Arts
00016548 - PubMed: Coussa 2013 family with 6 affecteds. M yes Canada Quebec - 0 - - RP;RCD characteristic arRP with hypopigmented macular atrophy and bear track changes; bilateral congenital subclinical renal cysts; mild cognitive impairment WDR19 WDR19 1 6 Heleen Arts
00059787 - - - - - - - - 0 - - RP;RCD - CERKL CERKL 1 1 Leen Abu Safieh
00059788 - - - - yes - - - 0 - - RP;RCD - RBP3 RBP3 1 1 Leen Abu Safieh
00059789 - - - - - - - - 0 - - RP;RCD - LCA5 LCA5 1 1 Leen Abu Safieh
00059791 - - - - - - - - 0 - - RP;RCD - EMC1 EMC1 1 1 Leen Abu Safieh
00059792 - - - - - - - - 0 - - RP;RCD - GPR125 GPR125 1 1 Leen Abu Safieh
00059793 - - - - - - - - 0 - - RP;RCD - KIAA1549 KIAA1549 1 1 Leen Abu Safieh
00059797 - - - M yes - - - 0 - - RP;RCD - RP1L1 RP1L1 1 1 Alice Davidson
00059897 - - 5-generation family, 4 affecteds - yes Pakistan - - 0 - - RP;RCD - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00059925 - PubMed: De Castro-Miró 2014 family, 4 patients M ? Spain - - 0 - - RP;RCD - RD3 RD3 1 4 Marta de Castro-Miró
00060208 - - - - - - - - 0 - - RP;RCD - PITPNM3 PITPNM3 1 1 Marcel Nelen
00060209 - - - - - - - - 0 - - RP;RCD - PITPNM3 PITPNM3 1 1 Marcel Nelen
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