Disease #00112 (RP (retinitis pigmentosa (RP)), OMIM:268000)

Official abbreviation RP
Name retinitis pigmentosa (RP)
OMIM ID 268000
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 218
Phenotype entries for this disease 144
Associated with 11 genes ARL3, BEST1, CC2D2A, CNGB1, DHDDS, HKDC1, IDH3A, IMPG1, KIF3B, NR2E3, SLC7A14
Associated tissues -
Disease features -
Remarks -


Individuals

218 entries on 3 pages. Showing entries 1 - 100.
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00001781 - - - - - (United States) - - - - - RP - - RHO 1 1 Feng Wang
00001782 - - - - - (United States) - - - - - RP - - RPGR 1 1 Feng Wang
00001783 - - - - - (United States) - - - - - RP - - PRPH2, ROM1 2 1 Feng Wang
00001784 - - - - - (United States) - - - - - RP - - PRPF31 1 1 Feng Wang
00001785 - - - - - (United States) - - - - - RP - - USH2A 1 1 Feng Wang
00001786 - - - - - (United States) - - - - - RP - - RPE65 1 1 Feng Wang
00001787 - - - - - (United States) - - - - - RP - - BBS1 1 1 Feng Wang
00001788 - - - - - (United States) - - - - - RP - - BBS1 1 1 Feng Wang
00001789 - - - - - (United States) - - - - - RP - - RDH12 2 1 Feng Wang
00001790 - - - - - (United States) - - - - - RP - - RDH12 2 1 Feng Wang
00001791 - - - - - (United States) - - - - - RP - - ABCA4 4 1 Feng Wang
00001792 - - - - - (United States) - - - - - RP - - SNRNP200 1 1 Feng Wang
00001793 - - - - - (United States) - - - - - RP - - PDE6A 2 1 Feng Wang
00001794 - - - - - (United States) - - - - - RP - - USH2A 2 1 Feng Wang
00001795 - PubMed: Wang 2014a - - - (United States) - - - - - RP - - MERTK 1 1 Feng Wang
00001796 - PubMed: Wang 2014a - - - (United States) - - - - - RP - - MERTK 1 1 Feng Wang
00001797 - - - - - (United States) - - - - - RP - - RPGR 1 1 Feng Wang
00001798 - - - - - (United States) - - - - - RP - - - - 1 Feng Wang
00001799 - - - - - (United States) - - - - - RP - - PRPF31 1 1 Feng Wang
00001800 - - - - - (United States) - - - - - RP - - RPGR 1 1 Feng Wang
00001801 - - - - - (United States) - - - - - RP - - CRX 1 1 Feng Wang
00001802 - - - - - (United States) - - - - - RP - - RGR 1 1 Feng Wang
00001803 - - - - - (United States) - - - - - RP - - PRPF31 1 1 Feng Wang
00001804 - - - - - (United States) - - - - - RP - - PROM1 2 1 Feng Wang
00001805 - - - - - (United States) - - - - - RP - - CNGA1 2 1 Feng Wang
00001806 - - - - - (United States) - - - - - RP - - PRPF8 1 1 Feng Wang
00001807 - - - - - (United States) - - - - - RP - - PROM1 2 1 Feng Wang
00001808 - - - - - (United States) - - - - - RP - - PDE6B 2 1 Feng Wang
00001809 - - - - - (United States) - - - - - RP - - ABCA4 2 1 Feng Wang
00001810 - - - - - (United States) - - - - - RP - - PRCD 1 1 Feng Wang
00001811 - - - - - (United States) - - - - - RP - - USH2A 2 1 Feng Wang
00001812 - - - - - (United States) - - - - - RP - - TULP1 2 1 Feng Wang
00001813 - - - - - (United States) - - - - - RP - - RDH12 2 1 Feng Wang
00001814 - - - - - (United States) - - - - - RP - - NPHP1 1 1 Feng Wang
00001815 - - - - - (United States) - - - - - RP - - RDH5 1 1 Feng Wang
00001816 - - - - - (United States) - - - - - RP - - CYP4V2 2 1 Feng Wang
00001817 - - - - - (United States) - - - - - RP - - CYP4V2 2 1 Feng Wang
00001818 - - - - - (United States) - - - - - RP - - CYP4V2 2 1 Feng Wang
00001819 - - - - - (United States) - - - - - RP - - BBS2 1 1 Feng Wang
00001820 - - - - - (United States) - - - - - RP - - JAG1 1 1 Feng Wang
00001821 - - - - - (United States) - - - - - RP - - NPHP4 2 1 Feng Wang
00001822 - - - - - (United States) - - - - - RP - - CYP4V2 2 1 Feng Wang
00001823 - - - - - (United States) - - - - - RP - - BBS5 1 1 Feng Wang
00001824 - - - - - (United States) - - - - - RP - - CDHR1 1 1 Feng Wang
00001825 - - - - - (United States) - - - - - RP - - GPR98 2 1 Feng Wang
00001826 - - - - - (United States) - - - - - RP - - USH1C 2 1 Feng Wang
00001827 - - - - - (United States) - - - - - RP - - CLN3 2 1 Feng Wang
00003028 - PubMed: Neveling 2013 - - - - - - - - - RP - USH2A USH2A 2 1 Marcel Nelen
00003093 - - - M yes United Kingdom (Great Britain) white - - - - obesity, RP - TUB - - 1 Laura Pearce
00016423 - - - F yes Libya - - - - - RP ataxia, retinal dystrophy, neuropathy PDE6A, SH3TC2 PDE6A, SH3TC2 2 1 Jill Urquhart
00016542 - PubMed: Coussa 2013 - F ? Canada Quebec - - - - RP 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 - - - - RP 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 - PubMed: Abu-Safieh-2013 - - - - - - - - - RP - CERKL CERKL 1 1 Leen Abu Safieh
00059788 - PubMed: Abu-Safieh-2013 - - yes - - - - - - RP - RBP3 RBP3 1 1 Leen Abu Safieh
00059789 - PubMed: Abu-Safieh-2013 - - - - - - - - - RP - LCA5 LCA5 1 1 Leen Abu Safieh
00059791 - PubMed: Abu-Safieh-2013 - - - - - - - - - RP - EMC1 EMC1 1 1 Leen Abu Safieh
00059792 - PubMed: Abu-Safieh-2013 - - - - - - - - - RP - GPR125 GPR125 1 1 Leen Abu Safieh
00059793 - PubMed: Abu-Safieh-2013 - - - - - - - - - RP - KIAA1549 KIAA1549 1 1 Leen Abu Safieh
00059797 RD2 - - M yes United Kingdom (Great Britain) - - - - - RP - RP1L1 RP1L1 1 1 Alice Davidson
00059897 - - 5-generation family, 4 affecteds - yes Pakistan - - - - - RP - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00059925 - PubMed: De Castro-Miró 2014 family, 4 patients M ? Spain - - - - - RP - RD3 RD3 1 4 Marta de Castro-Miró
00060111 - - - ? ? United Kingdom (Great Britain) - - - - - RP - RP1L1 RP1L1 1 1 Alice Davidson
00060112 - - - - ? United Kingdom (Great Britain) - - - - - RP - RP1L1 RP1L1 1 1 Alice Davidson
00060113 - - - ? ? United Kingdom (Great Britain) - - - - - RP - RP1L1 RP1L1 1 1 Alice Davidson
00060114 - - - ? ? United Kingdom (Great Britain) - - - - - RP - RP1L1 RP1L1 1 1 Alice Davidson
00060115 - - - - ? United Kingdom (Great Britain) - - - - - RP - RP1L1 RP1L1 1 1 Alice Davidson
00060116 - - - - ? United Kingdom (Great Britain) - - - - - RP - RP1L1 RP1L1 1 1 Alice Davidson
00060117 RD1PatIV4 PubMed: Davidson 2013 5-generation family, 3 affected (F, 2M) M yes United Kingdom (Great Britain) - - - - - RP - RP1L1 RP1L1 1 3 Alice Davidson
00060208 Pat9bl PubMed: Neveling 2013 - - - - - - - - - RP - PITPNM3 PITPNM3 1 1 Marcel Nelen
00060209 Pat10bl PubMed: Neveling 2013 - - - - - - - - - RP - PITPNM3 PITPNM3 1 1 Marcel Nelen
00362059 FamAPatII2 PubMed: Fadaie 2022 2-generation family, 1 affected, unaffected heterozygous carrier mother/sister M no Netherlands - - - - - RP cataract and nystagmus - BBS1 2 1 Zeinab Fadaie
00362060 FamBPatII1 PubMed: Fadaie 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Netherlands - - - - - RP - - BBS1 2 1 Zeinab Fadaie
00362061 FamCPatII1 PubMed: Fadaie 2022 - M no Ireland - - - - - RP - - BBS1 2 1 Zeinab Fadaie
00362062 FamDPatII1 PubMed: Fadaie 2022 2-generation family, 1 affected, unaffected heterozygous carrier mother F no England - - - - - RP - - BBS1 2 1 Zeinab Fadaie
00378015 IR_SH_0005 - - F - Korea, South (Republic) - - - - - RP HP:0032037, HP:0000662, HP:0001133, HP:0000007, HP:0000510 - EYS 2 1 Jinu Han
00378021 IR_SH_0009 - - M - Korea, South (Republic) - - - - - RP HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000007 - EYS 1 1 Jinu Han
00378026 IR_SH_0011 - - M - Korea, South (Republic) - - - - - RP - - RPGR 1 1 Jinu Han
00378027 IR_SH_0012 - - M - Korea, South (Republic) - - - - - RP HP:0032122, HP:0000662, HP:0001139, HP:0000006, HP:0000510 - PROM1 1 1 Jinu Han
00378030 IR_SS_0016 - - F - Korea, South (Republic) - - - - - RP HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510 - USH2A 2 1 Jinu Han
00378031 IR_SH_0017 - - M - Korea, South (Republic) - - - - - RP HP:0030515, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510 - EYS 2 1 Jinu Han
00378034 IR_SH_0021 - - M - Korea, South (Republic) - - - - - RP HP:0000662, HP:0000613, HP:0001133, HP:0001417, HP:0000510 - RPGR 1 1 Jinu Han
00378049 IR_SH_0022 - - F - Korea, South (Republic) - - - - - RP HP:0032037, HP:0000662, HP:0001133, HP:0000007, HP:0000510 - EYS 2 1 Jinu Han
00378050 IR_SH_0024 - - F - Korea, South (Republic) - - - - - RP HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510 - USH2A 2 1 Jinu Han
00378051 IR_SH_0025 - - F - Korea, South (Republic) - - - - - RP HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510 - EYS 1 1 Jinu Han
00378052 IR_SH_0029 - - M - Korea, South (Republic) - - - - - RP HP:0032037, HP:0000662, HP:0001133, HP:0000007, HP:0000510 - EYS 1 1 Jinu Han
00378053 IR_SS_0031 - - F - Korea, South (Republic) - - - - - RP HP:0001141, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510 - PDE6B 2 1 Jinu Han
00378054 IR_SB_0032 - - F - Korea, South (Republic) - - - - - RP HP:0032037, HP:0000613, HP:0001133, HP:0000510 - IMPG1 1 1 Jinu Han
00378057 IR_SS_0037 - - F - Korea, South (Republic) - - - - - RP HP:0032037, HP:0000662, HP:0001133, HP:0000510 - MAK 2 1 Jinu Han
00378058 IR_SH_0038 - - M - Korea, South (Republic) - - - - - RP HP:0032037, HP:0000662, HP:0001133, HP:0000006, HP:0000510 - PRPH2 1 1 Jinu Han
00378065 IR_SH_0046 - - M - Korea, South (Republic) - - - - - RP HP:0032122, HP:0000662, HP:0000613, HP:0001133, HP:0000551, HP:0001288, HP:0000007, HP:0000510 - EYS 2 1 Jinu Han
00378067 IR_SH_0050 - - F - Korea, South (Republic) - - - - - RP HP:0000662, HP:0000613, HP:0001133, HP:0000510 - EYS 2 1 Jinu Han
00378070 IR_SH_0055 - - M - Korea, South (Republic) - - - - - RP HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000551, HP:0000007, HP:0000510 - EYS 2 1 Jinu Han
00379534 IR_SH_0056 - - M - Korea, South (Republic) - - - - - RP HP:0000662, HP:0000613, HP:0001133, HP:0000551, HP:0001288, HP:0000510 - EYS 2 1 Jinu Han
00379535 IR_SH_0058 - - F - Korea, South (Republic) - - - - - RP HP:0000613, HP:0001133, HP:0000551, HP:0003745, HP:0000510 - CNGB1 2 1 Jinu Han
00379537 IR_SH_0060 - - F - Korea, South (Republic) - - - - - RP HP:0000662, HP:0001133, HP:0000007, HP:0000510 - EYS 2 1 Jinu Han
00379539 IR_SS_0062 - - M - Korea, South (Republic) - - - - - RP HP:0000662, HP:0000613, HP:0001417, HP:0000510, HP:0001133 - RPGR 1 1 Jinu Han
00379540 IR_SH_0063 - - M - Korea, South (Republic) - - - - - RP HP:0000662, HP:0000613, HP:0003745, HP:0000510, HP:0001133 - RP1 1 1 Jinu Han
00379543 IR_GS_0001 - - F - Korea, South (Republic) - - - - - RP HP:0000662, HP:0000613, HP:0001133, HP:0032037, HP:0000007, HP:0000510 - USH2A 1 1 Jinu Han
00379544 IR_GH_0002 - - M - Korea, South (Republic) - - - - - RP HP:0001133, HP:0000639, HP:0001141, HP:0001417, HP:0000510 - RP2 1 1 Jinu Han
00379545 IR_GS_0003 - - F - Korea, South (Republic) - - - - - RP HP:0000662, HP:0000613, HP:0001133, HP:0032037, HP:0000007, HP:0000510 - EYS 2 1 Jinu Han
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