Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000610	HP:0000610	Abnormal choroid morphology	0	ABCA4 CL E G H	24	827	Stargardt disease		C0271093	ORPHA	1	1280	1511	34	601691
HP:0000610	HP:0000610	Abnormal choroid morphology	0	CLCNKB CL E G H	1188	607364	Bartter syndrome type 3	607364	C1846343	OMIM	1	152	166	2027	602023
HP:0000610	HP:0000610	Abnormal choroid morphology	0	CNGB3 CL E G H	54714	827	Stargardt disease		C0271093	ORPHA	1	126	410	2153	605080
HP:0000610	HP:0000610	Abnormal choroid morphology	0	ELOVL4 CL E G H	6785	827	Stargardt disease		C0271093	ORPHA	1	17	122	14415	605512
HP:0000610	HP:0000610	Abnormal choroid morphology	0	MFRP CL E G H	83552	35612				ORPHA	1	31	259	18121	606227
HP:0000610	HP:0000610	Abnormal choroid morphology	0	PROM1 CL E G H	8842	827	Stargardt disease		C0271093	ORPHA	1	83	340	9454	604365
HP:0000610	HP:0000610	Abnormal choroid morphology	0	PRPH2 CL E G H	5961	827	Stargardt disease		C0271093	ORPHA	1	181	344	9942	179605
HP:0000610	HP:0000610	Abnormal choroid morphology	0	PRSS56 CL E G H	646960	35612				ORPHA	1	24	58	39433	613858
HP:0000610	HP:0000610	Abnormal choroid morphology	0	TMEM98 CL E G H	26022	35612				ORPHA	1	6	15	24529	615949
HP:0000610	HP:0000610	Abnormal choroid morphology	1	ABCA4 CL E G H	24	827	Stargardt disease		C0271093	ORPHA	1	1280	1511	34	601691
HP:0000610	HP:0000610	Abnormal choroid morphology	1	CLCNKB CL E G H	1188	607364	Bartter syndrome type 3	607364	C1846343	OMIM	1	152	166	2027	602023
HP:0000610	HP:0000610	Abnormal choroid morphology	1	CNGB3 CL E G H	54714	827	Stargardt disease		C0271093	ORPHA	1	126	410	2153	605080
HP:0000610	HP:0000610	Abnormal choroid morphology	1	ELOVL4 CL E G H	6785	827	Stargardt disease		C0271093	ORPHA	1	17	122	14415	605512
HP:0000610	HP:0000610	Abnormal choroid morphology	1	MFRP CL E G H	83552	35612				ORPHA	1	31	259	18121	606227
HP:0000610	HP:0000610	Abnormal choroid morphology	1	PROM1 CL E G H	8842	827	Stargardt disease		C0271093	ORPHA	1	83	340	9454	604365
HP:0000610	HP:0000610	Abnormal choroid morphology	1	PRPH2 CL E G H	5961	827	Stargardt disease		C0271093	ORPHA	1	181	344	9942	179605
HP:0000610	HP:0000610	Abnormal choroid morphology	1	PRSS56 CL E G H	646960	35612				ORPHA	1	24	58	39433	613858
HP:0000610	HP:0000610	Abnormal choroid morphology	1	TMEM98 CL E G H	26022	35612				ORPHA	1	6	15	24529	615949
HP:0000610	HP:0000610	Abnormal choroid morphology	2	ABCA4 CL E G H	24	827	Stargardt disease		C0271093	ORPHA	1	1280	1511	34	601691
HP:0000610	HP:0000610	Abnormal choroid morphology	2	CLCNKB CL E G H	1188	607364	Bartter syndrome type 3	607364	C1846343	OMIM	1	152	166	2027	602023
HP:0000610	HP:0000610	Abnormal choroid morphology	2	CNGB3 CL E G H	54714	827	Stargardt disease		C0271093	ORPHA	1	126	410	2153	605080
HP:0000610	HP:0000610	Abnormal choroid morphology	2	ELOVL4 CL E G H	6785	827	Stargardt disease		C0271093	ORPHA	1	17	122	14415	605512
HP:0000610	HP:0000610	Abnormal choroid morphology	2	MFRP CL E G H	83552	35612				ORPHA	1	31	259	18121	606227
HP:0000610	HP:0000610	Abnormal choroid morphology	2	PROM1 CL E G H	8842	827	Stargardt disease		C0271093	ORPHA	1	83	340	9454	604365
HP:0000610	HP:0000610	Abnormal choroid morphology	2	PRPH2 CL E G H	5961	827	Stargardt disease		C0271093	ORPHA	1	181	344	9942	179605
HP:0000610	HP:0000610	Abnormal choroid morphology	2	PRSS56 CL E G H	646960	35612				ORPHA	1	24	58	39433	613858
HP:0000610	HP:0000610	Abnormal choroid morphology	2	TMEM98 CL E G H	26022	35612				ORPHA	1	6	15	24529	615949
HP:0000610	HP:0000610	Abnormal choroid morphology	3	ABCA4 CL E G H	24	827	Stargardt disease		C0271093	ORPHA	1	1280	1511	34	601691
HP:0000610	HP:0000610	Abnormal choroid morphology	3	CLCNKB CL E G H	1188	607364	Bartter syndrome type 3	607364	C1846343	OMIM	1	152	166	2027	602023
HP:0000610	HP:0000610	Abnormal choroid morphology	3	CNGB3 CL E G H	54714	827	Stargardt disease		C0271093	ORPHA	1	126	410	2153	605080
HP:0000610	HP:0000610	Abnormal choroid morphology	3	ELOVL4 CL E G H	6785	827	Stargardt disease		C0271093	ORPHA	1	17	122	14415	605512
HP:0000610	HP:0000610	Abnormal choroid morphology	3	MFRP CL E G H	83552	35612				ORPHA	1	31	259	18121	606227
HP:0000610	HP:0000610	Abnormal choroid morphology	3	PROM1 CL E G H	8842	827	Stargardt disease		C0271093	ORPHA	1	83	340	9454	604365
HP:0000610	HP:0000610	Abnormal choroid morphology	3	PRPH2 CL E G H	5961	827	Stargardt disease		C0271093	ORPHA	1	181	344	9942	179605
HP:0000610	HP:0000610	Abnormal choroid morphology	3	PRSS56 CL E G H	646960	35612				ORPHA	1	24	58	39433	613858
HP:0000610	HP:0000610	Abnormal choroid morphology	3	TMEM98 CL E G H	26022	35612				ORPHA	1	6	15	24529	615949
HP:0000610	HP:0000610	Abnormal choroid morphology	4	ABCA4 CL E G H	24	827	Stargardt disease		C0271093	ORPHA	1	1280	1511	34	601691
HP:0000610	HP:0000610	Abnormal choroid morphology	4	CLCNKB CL E G H	1188	607364	Bartter syndrome type 3	607364	C1846343	OMIM	1	152	166	2027	602023
HP:0000610	HP:0000610	Abnormal choroid morphology	4	CNGB3 CL E G H	54714	827	Stargardt disease		C0271093	ORPHA	1	126	410	2153	605080
HP:0000610	HP:0000610	Abnormal choroid morphology	4	ELOVL4 CL E G H	6785	827	Stargardt disease		C0271093	ORPHA	1	17	122	14415	605512
HP:0000610	HP:0000610	Abnormal choroid morphology	4	MFRP CL E G H	83552	35612				ORPHA	1	31	259	18121	606227
HP:0000610	HP:0000610	Abnormal choroid morphology	4	PROM1 CL E G H	8842	827	Stargardt disease		C0271093	ORPHA	1	83	340	9454	604365
HP:0000610	HP:0000610	Abnormal choroid morphology	4	PRPH2 CL E G H	5961	827	Stargardt disease		C0271093	ORPHA	1	181	344	9942	179605
HP:0000610	HP:0000610	Abnormal choroid morphology	4	PRSS56 CL E G H	646960	35612				ORPHA	1	24	58	39433	613858
HP:0000610	HP:0000610	Abnormal choroid morphology	4	TMEM98 CL E G H	26022	35612				ORPHA	1	6	15	24529	615949
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000610	HP:0000610	Abnormal choroid morphology	0	GNAQ CL E G H	2776	3205	LBWD syndrome			ORPHA	0	6	58	4390	600998
HP:0000610	HP:0000610	Abnormal choroid morphology	0	NOD2 CL E G H	64127	90340				ORPHA	0	121	442	5331	605956
HP:0000610	HP:0000610	Abnormal choroid morphology	1	GNAQ CL E G H	2776	3205	LBWD syndrome			ORPHA	0	6	58	4390	600998
HP:0000610	HP:0000610	Abnormal choroid morphology	1	NOD2 CL E G H	64127	90340				ORPHA	0	121	442	5331	605956
HP:0000610	HP:0000610	Abnormal choroid morphology	2	GNAQ CL E G H	2776	3205	LBWD syndrome			ORPHA	0	6	58	4390	600998
HP:0000610	HP:0000610	Abnormal choroid morphology	2	NOD2 CL E G H	64127	90340				ORPHA	0	121	442	5331	605956
HP:0000610	HP:0000610	Abnormal choroid morphology	3	GNAQ CL E G H	2776	3205	LBWD syndrome			ORPHA	0	6	58	4390	600998
HP:0000610	HP:0000610	Abnormal choroid morphology	3	NOD2 CL E G H	64127	90340				ORPHA	0	121	442	5331	605956
HP:0000610	HP:0000610	Abnormal choroid morphology	4	GNAQ CL E G H	2776	3205	LBWD syndrome			ORPHA	0	6	58	4390	600998
HP:0000610	HP:0000610	Abnormal choroid morphology	4	NOD2 CL E G H	64127	90340				ORPHA	0	121	442	5331	605956