Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
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