Disease #02156 (retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness, OMIM:300455)

Official abbreviation -
Name retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness
OMIM ID 300455
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 38
Phenotype entries for this disease 39
Associated with 1 gene RPGR
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

38 entries on 1 page. Showing entries 1 - 38.
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00417575 - - - - - - - - - - - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness - RPGR RPGR 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00436429 2697188 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 PDE6A PDE6A 2 1 Rocio Villafuerte-de la Cruz
00436430 2724927 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F likely Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 USH2A USH2A 2 1 Rocio Villafuerte-de la Cruz
00436431 2847955 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F likely Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 KIZ KIZ 1 1 Rocio Villafuerte-de la Cruz
00436432 2910613 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 IFT172 IFT172 2 1 Rocio Villafuerte-de la Cruz
00436433 3228314 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 USH2A USH2A 2 1 Rocio Villafuerte-de la Cruz
00436434 3708898 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 USH2A USH2A 2 1 Rocio Villafuerte-de la Cruz
00436435 3781750 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 CRB1 CRB1 2 1 Rocio Villafuerte-de la Cruz
00436436 3888727 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M likely Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 CNGB1 CNGB1 2 1 Rocio Villafuerte-de la Cruz
00436437 3831892 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 USH2A USH2A 2 1 Rocio Villafuerte-de la Cruz
00436438 3846505 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 EYS EYS 2 1 Rocio Villafuerte-de la Cruz
00436439 4271149 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F likely Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 CNGB1 CNGB1 1 1 Rocio Villafuerte-de la Cruz
00436440 4403355 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 USH2A USH2A 2 1 Rocio Villafuerte-de la Cruz
00436442 2694987 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 USH2A USH2A 1 1 Rocio Villafuerte-de la Cruz
00436443 2695000 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 KIZ KIZ 1 1 Rocio Villafuerte-de la Cruz
00436444 2701134 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 KIZ KIZ 1 1 Rocio Villafuerte-de la Cruz
00436446 2820856 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 ABCA4 ABCA4 1 1 Rocio Villafuerte-de la Cruz
00436447 2947207 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 USH2A USH2A 1 1 Rocio Villafuerte-de la Cruz
00436448 3464580 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 MFRP MFRP 1 1 Rocio Villafuerte-de la Cruz
00436449 3715768 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 CRB1 CRB1 1 1 Rocio Villafuerte-de la Cruz
00436450 2479467 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 IMPDH1 IMPDH1 1 1 Rocio Villafuerte-de la Cruz
00436451 2481622 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 SAG SAG 1 1 Rocio Villafuerte-de la Cruz
00436452 2696538 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 SAG SAG 1 1 Rocio Villafuerte-de la Cruz
00436453 2725416 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 SAG SAG 1 1 Rocio Villafuerte-de la Cruz
00436454 2850758 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 SNRNP200 SNRNP200 1 1 Rocio Villafuerte-de la Cruz
00436455 3561418 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 PRPF3 PRPF3 1 1 Rocio Villafuerte-de la Cruz
00436456 3585494 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 PRPH2 PRPH2 1 1 Rocio Villafuerte-de la Cruz
00436458 2694892 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 RP2 RP2 1 1 Rocio Villafuerte-de la Cruz
00436459 2996306 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 RPGR RPGR 1 1 Rocio Villafuerte-de la Cruz
00436460 3026207 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 RPGR RPGR 1 1 Rocio Villafuerte-de la Cruz
00436461 3276966 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 RPGR RPGR 1 1 Rocio Villafuerte-de la Cruz
00436462 3579416 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 RPGR RPGR 1 1 Rocio Villafuerte-de la Cruz
00436463 3785275 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 RP2 RP2 1 1 Rocio Villafuerte-de la Cruz
00436590 2701426 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - NONE retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Retinal dystrophy (HP:0000556) C21orf2 C21orf2 2 1 Rocio Villafuerte-de la Cruz
00436591 3306467 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551 POC1B POC1B 2 1 Rocio Villafuerte-de la Cruz
00436592 3312285 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551 CNGA3 CNGA3 2 1 Rocio Villafuerte-de la Cruz
00436593 3579484 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F likely Mexico Hispanic - - - - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551 PDE6C PDE6C 1 1 Rocio Villafuerte-de la Cruz
00436594 3667918 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - NONE retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551 CNGB3 CNGB3 2 1 Rocio Villafuerte-de la Cruz
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