Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0000554 | HP:0000554 | Uveitis | 0 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 1 | | 16 | 1142 | 606000 |
HP:0000554 | HP:0000554 | Uveitis | 0 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 406 | 1482 | 602537 |
HP:0000554 | HP:0000554 | Uveitis | 0 | DNASE1L3 CL E G H | 1776 | 36412 | | | | ORPHA | 1 | | 133 | 2959 | 602244 |
HP:0000554 | HP:0000554 | Uveitis | 0 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 1 | | 24 | 4948 | 142857 |
HP:0000554 | HP:0000554 | Uveitis | 0 | IKBKG CL E G H | 8517 | 308300 | Incontinentia pigmenti syndrome | 308300 | C0021171 | OMIM | 1 | | 357 | 5961 | 300248 |
HP:0000554 | HP:0000554 | Uveitis | 0 | NLRC4 CL E G H | 58484 | 1451 | | | | ORPHA | 1 | | 499 | 16412 | 606831 |
HP:0000554 | HP:0000554 | Uveitis | 0 | NLRP1 CL E G H | 22861 | 617388 | Autoinflammation with arthritis and dyskeratosis | 617388 | C4479278 | OMIM | 1 | | 495 | 14374 | 606636 |
HP:0000554 | HP:0000554 | Uveitis | 0 | NLRP3 CL E G H | 114548 | 1451 | | | | ORPHA | 1 | | 752 | 16400 | 606416 |
HP:0000554 | HP:0000554 | Uveitis | 0 | NLRP3 CL E G H | 114548 | 575 | Aicardi Goutieres syndrome | | C0393591 | ORPHA | 1 | | 752 | 16400 | 606416 |
HP:0000554 | HP:0000554 | Uveitis | 0 | NOD2 CL E G H | 64127 | 186580 | Blau syndrome | 186580 | C1861303 | OMIM | 1 | | 743 | 5331 | 605956 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 1 | | 16 | 1142 | 606000 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 1 | | 16 | 1142 | 606000 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 1 | | 16 | 1142 | 606000 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 1 | | 16 | 1142 | 606000 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 1 | | 16 | 1142 | 606000 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 406 | 1482 | 602537 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 406 | 1482 | 602537 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 406 | 1482 | 602537 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 406 | 1482 | 602537 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 406 | 1482 | 602537 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | DNASE1L3 CL E G H | 1776 | 36412 | | | | ORPHA | 1 | | 133 | 2959 | 602244 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | DNASE1L3 CL E G H | 1776 | 36412 | | | | ORPHA | 1 | | 133 | 2959 | 602244 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | DNASE1L3 CL E G H | 1776 | 36412 | | | | ORPHA | 1 | | 133 | 2959 | 602244 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | DNASE1L3 CL E G H | 1776 | 36412 | | | | ORPHA | 1 | | 133 | 2959 | 602244 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | DNASE1L3 CL E G H | 1776 | 36412 | | | | ORPHA | 1 | | 133 | 2959 | 602244 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 1 | | 24 | 4948 | 142857 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 1 | | 24 | 4948 | 142857 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 1 | | 24 | 4948 | 142857 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 1 | | 24 | 4948 | 142857 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 1 | | 24 | 4948 | 142857 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | IKBKG CL E G H | 8517 | 308300 | Incontinentia pigmenti syndrome | 308300 | C0021171 | OMIM | 1 | | 357 | 5961 | 300248 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | IKBKG CL E G H | 8517 | 308300 | Incontinentia pigmenti syndrome | 308300 | C0021171 | OMIM | 1 | | 357 | 5961 | 300248 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | IKBKG CL E G H | 8517 | 308300 | Incontinentia pigmenti syndrome | 308300 | C0021171 | OMIM | 1 | | 357 | 5961 | 300248 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | IKBKG CL E G H | 8517 | 308300 | Incontinentia pigmenti syndrome | 308300 | C0021171 | OMIM | 1 | | 357 | 5961 | 300248 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | IKBKG CL E G H | 8517 | 308300 | Incontinentia pigmenti syndrome | 308300 | C0021171 | OMIM | 1 | | 357 | 5961 | 300248 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | NLRC4 CL E G H | 58484 | 1451 | | | | ORPHA | 1 | | 499 | 16412 | 606831 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | NLRC4 CL E G H | 58484 | 1451 | | | | ORPHA | 1 | | 499 | 16412 | 606831 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | NLRC4 CL E G H | 58484 | 1451 | | | | ORPHA | 1 | | 499 | 16412 | 606831 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | NLRC4 CL E G H | 58484 | 1451 | | | | ORPHA | 1 | | 499 | 16412 | 606831 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | NLRC4 CL E G H | 58484 | 1451 | | | | ORPHA | 1 | | 499 | 16412 | 606831 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | NLRP1 CL E G H | 22861 | 617388 | Autoinflammation with arthritis and dyskeratosis | 617388 | C4479278 | OMIM | 1 | | 495 | 14374 | 606636 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | NLRP1 CL E G H | 22861 | 617388 | Autoinflammation with arthritis and dyskeratosis | 617388 | C4479278 | OMIM | 1 | | 495 | 14374 | 606636 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | NLRP1 CL E G H | 22861 | 617388 | Autoinflammation with arthritis and dyskeratosis | 617388 | C4479278 | OMIM | 1 | | 495 | 14374 | 606636 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | NLRP1 CL E G H | 22861 | 617388 | Autoinflammation with arthritis and dyskeratosis | 617388 | C4479278 | OMIM | 1 | | 495 | 14374 | 606636 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | NLRP1 CL E G H | 22861 | 617388 | Autoinflammation with arthritis and dyskeratosis | 617388 | C4479278 | OMIM | 1 | | 495 | 14374 | 606636 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | NLRP3 CL E G H | 114548 | 1451 | | | | ORPHA | 1 | | 752 | 16400 | 606416 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | NLRP3 CL E G H | 114548 | 1451 | | | | ORPHA | 1 | | 752 | 16400 | 606416 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | NLRP3 CL E G H | 114548 | 1451 | | | | ORPHA | 1 | | 752 | 16400 | 606416 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | NLRP3 CL E G H | 114548 | 1451 | | | | ORPHA | 1 | | 752 | 16400 | 606416 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | NLRP3 CL E G H | 114548 | 1451 | | | | ORPHA | 1 | | 752 | 16400 | 606416 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | NLRP3 CL E G H | 114548 | 575 | Aicardi Goutieres syndrome | | C0393591 | ORPHA | 1 | | 752 | 16400 | 606416 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | NLRP3 CL E G H | 114548 | 575 | Aicardi Goutieres syndrome | | C0393591 | ORPHA | 1 | | 752 | 16400 | 606416 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | NLRP3 CL E G H | 114548 | 575 | Aicardi Goutieres syndrome | | C0393591 | ORPHA | 1 | | 752 | 16400 | 606416 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | NLRP3 CL E G H | 114548 | 575 | Aicardi Goutieres syndrome | | C0393591 | ORPHA | 1 | | 752 | 16400 | 606416 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | NLRP3 CL E G H | 114548 | 575 | Aicardi Goutieres syndrome | | C0393591 | ORPHA | 1 | | 752 | 16400 | 606416 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | NOD2 CL E G H | 64127 | 186580 | Blau syndrome | 186580 | C1861303 | OMIM | 1 | | 743 | 5331 | 605956 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | NOD2 CL E G H | 64127 | 186580 | Blau syndrome | 186580 | C1861303 | OMIM | 1 | | 743 | 5331 | 605956 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | NOD2 CL E G H | 64127 | 186580 | Blau syndrome | 186580 | C1861303 | OMIM | 1 | | 743 | 5331 | 605956 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | NOD2 CL E G H | 64127 | 186580 | Blau syndrome | 186580 | C1861303 | OMIM | 1 | | 743 | 5331 | 605956 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | NOD2 CL E G H | 64127 | 186580 | Blau syndrome | 186580 | C1861303 | OMIM | 1 | | 743 | 5331 | 605956 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 1 | | 16 | 1142 | 606000 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 406 | 1482 | 602537 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | DNASE1L3 CL E G H | 1776 | 36412 | | | | ORPHA | 1 | | 133 | 2959 | 602244 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 1 | | 24 | 4948 | 142857 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | IKBKG CL E G H | 8517 | 308300 | Incontinentia pigmenti syndrome | 308300 | C0021171 | OMIM | 1 | | 357 | 5961 | 300248 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | NLRC4 CL E G H | 58484 | 1451 | | | | ORPHA | 1 | | 499 | 16412 | 606831 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | NLRP1 CL E G H | 22861 | 617388 | Autoinflammation with arthritis and dyskeratosis | 617388 | C4479278 | OMIM | 1 | | 495 | 14374 | 606636 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | NLRP3 CL E G H | 114548 | 1451 | | | | ORPHA | 1 | | 752 | 16400 | 606416 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | NLRP3 CL E G H | 114548 | 575 | Aicardi Goutieres syndrome | | C0393591 | ORPHA | 1 | | 752 | 16400 | 606416 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | NOD2 CL E G H | 64127 | 186580 | Blau syndrome | 186580 | C1861303 | OMIM | 1 | | 743 | 5331 | 605956 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000554 | HP:0000554 | Uveitis | 0 | ATOH7 CL E G H | 220202 | 221900 | Persistent hyperplastic primary vitreous, autosomal recessive | 221900 | C1857299 | OMIM | 0 | | 115 | 13907 | 609875 |
HP:0000554 | HP:0000554 | Uveitis | 0 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 120 | 4492 | 602646 |
HP:0000554 | HP:0000554 | Uveitis | 0 | IKBKG CL E G H | 8517 | 464 | Achromatopsia incomplete X-linked | | CN036572 | ORPHA | 0 | | 357 | 5961 | 300248 |
HP:0000554 | HP:0000554 | Uveitis | 0 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 0 | | 248 | 15455 | 300294 |
HP:0000554 | HP:0000554 | Uveitis | 0 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 17 | 7380 | 142408 |
HP:0000554 | HP:0000554 | Uveitis | 0 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 913 | 11634 | 602272 |
HP:0000554 | HP:0000554 | Uveitis | 0 | TKT CL E G H | 7086 | 617044 | Short stature, developmental delay, and congenital heart defects | 617044 | C4310751 | OMIM | 0 | | 50 | 11834 | 606781 |
HP:0000554 | HP:0000554 | Uveitis | 0 | TNFRSF1A CL E G H | 7132 | 32960 | | | | ORPHA | 0 | | 444 | 11916 | 191190 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | ATOH7 CL E G H | 220202 | 221900 | Persistent hyperplastic primary vitreous, autosomal recessive | 221900 | C1857299 | OMIM | 0 | | 115 | 13907 | 609875 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | ATOH7 CL E G H | 220202 | 221900 | Persistent hyperplastic primary vitreous, autosomal recessive | 221900 | C1857299 | OMIM | 0 | | 115 | 13907 | 609875 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | ATOH7 CL E G H | 220202 | 221900 | Persistent hyperplastic primary vitreous, autosomal recessive | 221900 | C1857299 | OMIM | 0 | | 115 | 13907 | 609875 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | ATOH7 CL E G H | 220202 | 221900 | Persistent hyperplastic primary vitreous, autosomal recessive | 221900 | C1857299 | OMIM | 0 | | 115 | 13907 | 609875 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | ATOH7 CL E G H | 220202 | 221900 | Persistent hyperplastic primary vitreous, autosomal recessive | 221900 | C1857299 | OMIM | 0 | | 115 | 13907 | 609875 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 120 | 4492 | 602646 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 120 | 4492 | 602646 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 120 | 4492 | 602646 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 120 | 4492 | 602646 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 120 | 4492 | 602646 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | IKBKG CL E G H | 8517 | 464 | Achromatopsia incomplete X-linked | | CN036572 | ORPHA | 0 | | 357 | 5961 | 300248 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | IKBKG CL E G H | 8517 | 464 | Achromatopsia incomplete X-linked | | CN036572 | ORPHA | 0 | | 357 | 5961 | 300248 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | IKBKG CL E G H | 8517 | 464 | Achromatopsia incomplete X-linked | | CN036572 | ORPHA | 0 | | 357 | 5961 | 300248 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | IKBKG CL E G H | 8517 | 464 | Achromatopsia incomplete X-linked | | CN036572 | ORPHA | 0 | | 357 | 5961 | 300248 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | IKBKG CL E G H | 8517 | 464 | Achromatopsia incomplete X-linked | | CN036572 | ORPHA | 0 | | 357 | 5961 | 300248 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 0 | | 248 | 15455 | 300294 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 0 | | 248 | 15455 | 300294 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 0 | | 248 | 15455 | 300294 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 0 | | 248 | 15455 | 300294 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 0 | | 248 | 15455 | 300294 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 17 | 7380 | 142408 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 17 | 7380 | 142408 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 17 | 7380 | 142408 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 17 | 7380 | 142408 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 17 | 7380 | 142408 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 913 | 11634 | 602272 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 913 | 11634 | 602272 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 913 | 11634 | 602272 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 913 | 11634 | 602272 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 913 | 11634 | 602272 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | TKT CL E G H | 7086 | 617044 | Short stature, developmental delay, and congenital heart defects | 617044 | C4310751 | OMIM | 0 | | 50 | 11834 | 606781 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | TKT CL E G H | 7086 | 617044 | Short stature, developmental delay, and congenital heart defects | 617044 | C4310751 | OMIM | 0 | | 50 | 11834 | 606781 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | TKT CL E G H | 7086 | 617044 | Short stature, developmental delay, and congenital heart defects | 617044 | C4310751 | OMIM | 0 | | 50 | 11834 | 606781 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | TKT CL E G H | 7086 | 617044 | Short stature, developmental delay, and congenital heart defects | 617044 | C4310751 | OMIM | 0 | | 50 | 11834 | 606781 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | TKT CL E G H | 7086 | 617044 | Short stature, developmental delay, and congenital heart defects | 617044 | C4310751 | OMIM | 0 | | 50 | 11834 | 606781 |
HP:0000554 | HP:0012123 | Posterior uveitis | 1 | TNFRSF1A CL E G H | 7132 | 32960 | | | | ORPHA | 0 | | 444 | 11916 | 191190 |
HP:0000554 | HP:0012121 | Panuveitis | 1 | TNFRSF1A CL E G H | 7132 | 32960 | | | | ORPHA | 0 | | 444 | 11916 | 191190 |
HP:0000554 | HP:0012122 | Anterior uveitis | 1 | TNFRSF1A CL E G H | 7132 | 32960 | | | | ORPHA | 0 | | 444 | 11916 | 191190 |
HP:0000554 | HP:0007813 | Nongranulomatous uveitis | 1 | TNFRSF1A CL E G H | 7132 | 32960 | | | | ORPHA | 0 | | 444 | 11916 | 191190 |
HP:0000554 | HP:0012124 | Intermediate uveitis | 1 | TNFRSF1A CL E G H | 7132 | 32960 | | | | ORPHA | 0 | | 444 | 11916 | 191190 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | ATOH7 CL E G H | 220202 | 221900 | Persistent hyperplastic primary vitreous, autosomal recessive | 221900 | C1857299 | OMIM | 0 | | 115 | 13907 | 609875 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 120 | 4492 | 602646 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | IKBKG CL E G H | 8517 | 464 | Achromatopsia incomplete X-linked | | CN036572 | ORPHA | 0 | | 357 | 5961 | 300248 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 0 | | 248 | 15455 | 300294 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 17 | 7380 | 142408 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 913 | 11634 | 602272 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | TKT CL E G H | 7086 | 617044 | Short stature, developmental delay, and congenital heart defects | 617044 | C4310751 | OMIM | 0 | | 50 | 11834 | 606781 |
HP:0000554 | HP:0001094 | Iridocyclitis | 2 | TNFRSF1A CL E G H | 7132 | 32960 | | | | ORPHA | 0 | | 444 | 11916 | 191190 |