Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0100012	HP:0100012	Neoplasm of the eye	0	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0100012	Neoplasm of the eye	0	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HP:0100012	HP:0010568	Hamartoma of the eye	1	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0007716	Uveal melanoma	1	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0010568	Hamartoma of the eye	1	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HP:0100012	HP:0007716	Uveal melanoma	1	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HP:0100012	HP:0012777	Retinal neoplasm	1	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0100011	Scleral schwannoma	1	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0025604	Orbital schwannoma	1	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0012777	Retinal neoplasm	1	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HP:0100012	HP:0100011	Scleral schwannoma	1	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HP:0100012	HP:0025604	Orbital schwannoma	1	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HP:0100012	HP:0011524	Iris melanoma	2	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0009919	Retinoblastoma	2	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0009594	Retinal hamartoma	2	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0012055	Ciliary body melanoma	2	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0011524	Iris melanoma	2	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HP:0100012	HP:0009919	Retinoblastoma	2	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HP:0100012	HP:0009594	Retinal hamartoma	2	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HP:0100012	HP:0012055	Ciliary body melanoma	2	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HP:0100012	HP:0100780	Conjunctival hamartoma	2	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0009737	Lisch nodules	2	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0012054	Choroidal melanoma	2	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0100780	Conjunctival hamartoma	2	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HP:0100012	HP:0009737	Lisch nodules	2	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HP:0100012	HP:0012054	Choroidal melanoma	2	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0030508	Retinal cavernous hemangioma	3	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HP:0100012	HP:0030508	Retinal cavernous hemangioma	3	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HP:0100012	HP:0030509	Retinal racemose hemangioma	3	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	NDP CL E G H	4693	649		ORPHA	1	263	7678	300658
HP:0100012	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HP:0100012	HP:0030509	Retinal racemose hemangioma	3	NDP CL E G H	4693	649		ORPHA	1	245	7678	300658
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100012	HP:0100012	Neoplasm of the eye	0	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0100012	Neoplasm of the eye	0	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0100012	Neoplasm of the eye	0	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0100012	Neoplasm of the eye	0	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0100012	Neoplasm of the eye	0	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0100012	Neoplasm of the eye	0	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0100012	Neoplasm of the eye	0	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0100012	Neoplasm of the eye	0	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0100012	Neoplasm of the eye	0	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0100012	Neoplasm of the eye	0	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0100012	Neoplasm of the eye	0	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0100012	Neoplasm of the eye	0	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0100012	Neoplasm of the eye	0	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0100012	Neoplasm of the eye	0	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208
HP:0100012	HP:0010568	Hamartoma of the eye	1	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0007716	Uveal melanoma	1	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0010568	Hamartoma of the eye	1	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0007716	Uveal melanoma	1	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0012777	Retinal neoplasm	1	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0100011	Scleral schwannoma	1	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0025604	Orbital schwannoma	1	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0012777	Retinal neoplasm	1	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0100011	Scleral schwannoma	1	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0025604	Orbital schwannoma	1	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0010568	Hamartoma of the eye	1	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0007716	Uveal melanoma	1	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0010568	Hamartoma of the eye	1	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0007716	Uveal melanoma	1	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0012777	Retinal neoplasm	1	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0100011	Scleral schwannoma	1	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0025604	Orbital schwannoma	1	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0012777	Retinal neoplasm	1	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0100011	Scleral schwannoma	1	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0025604	Orbital schwannoma	1	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0010568	Hamartoma of the eye	1	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0007716	Uveal melanoma	1	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0010568	Hamartoma of the eye	1	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0007716	Uveal melanoma	1	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0012777	Retinal neoplasm	1	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0100011	Scleral schwannoma	1	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0025604	Orbital schwannoma	1	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0100011	Scleral schwannoma	1	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0025604	Orbital schwannoma	1	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0012777	Retinal neoplasm	1	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0010568	Hamartoma of the eye	1	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0007716	Uveal melanoma	1	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0007716	Uveal melanoma	1	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0010568	Hamartoma of the eye	1	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0100011	Scleral schwannoma	1	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0025604	Orbital schwannoma	1	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0012777	Retinal neoplasm	1	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0100011	Scleral schwannoma	1	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0025604	Orbital schwannoma	1	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0012777	Retinal neoplasm	1	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0007716	Uveal melanoma	1	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0010568	Hamartoma of the eye	1	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0007716	Uveal melanoma	1	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0010568	Hamartoma of the eye	1	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0100011	Scleral schwannoma	1	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0025604	Orbital schwannoma	1	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0012777	Retinal neoplasm	1	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0100011	Scleral schwannoma	1	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0025604	Orbital schwannoma	1	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0012777	Retinal neoplasm	1	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0007716	Uveal melanoma	1	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0010568	Hamartoma of the eye	1	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0007716	Uveal melanoma	1	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0010568	Hamartoma of the eye	1	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0100011	Scleral schwannoma	1	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0025604	Orbital schwannoma	1	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0012777	Retinal neoplasm	1	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0025604	Orbital schwannoma	1	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0012777	Retinal neoplasm	1	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0100011	Scleral schwannoma	1	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0007716	Uveal melanoma	1	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0010568	Hamartoma of the eye	1	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0007716	Uveal melanoma	1	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208
HP:0100012	HP:0010568	Hamartoma of the eye	1	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208
HP:0100012	HP:0025604	Orbital schwannoma	1	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0012777	Retinal neoplasm	1	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0100011	Scleral schwannoma	1	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0025604	Orbital schwannoma	1	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208
HP:0100012	HP:0012777	Retinal neoplasm	1	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208
HP:0100012	HP:0100011	Scleral schwannoma	1	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208
HP:0100012	HP:0011524	Iris melanoma	2	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0009919	Retinoblastoma	2	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0009594	Retinal hamartoma	2	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0012055	Ciliary body melanoma	2	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0011524	Iris melanoma	2	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0009919	Retinoblastoma	2	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0009594	Retinal hamartoma	2	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0012055	Ciliary body melanoma	2	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0100780	Conjunctival hamartoma	2	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0009737	Lisch nodules	2	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0012054	Choroidal melanoma	2	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0100780	Conjunctival hamartoma	2	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0009737	Lisch nodules	2	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0012054	Choroidal melanoma	2	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0009919	Retinoblastoma	2	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0009594	Retinal hamartoma	2	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0012055	Ciliary body melanoma	2	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0011524	Iris melanoma	2	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0009919	Retinoblastoma	2	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0009594	Retinal hamartoma	2	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0012055	Ciliary body melanoma	2	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0011524	Iris melanoma	2	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0100780	Conjunctival hamartoma	2	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0009737	Lisch nodules	2	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0012054	Choroidal melanoma	2	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0009737	Lisch nodules	2	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0012054	Choroidal melanoma	2	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0100780	Conjunctival hamartoma	2	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0009919	Retinoblastoma	2	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0009594	Retinal hamartoma	2	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0012055	Ciliary body melanoma	2	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0011524	Iris melanoma	2	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0009919	Retinoblastoma	2	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0009594	Retinal hamartoma	2	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0012055	Ciliary body melanoma	2	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0011524	Iris melanoma	2	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0009737	Lisch nodules	2	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0012054	Choroidal melanoma	2	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0100780	Conjunctival hamartoma	2	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0009737	Lisch nodules	2	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0012054	Choroidal melanoma	2	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0100780	Conjunctival hamartoma	2	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0009919	Retinoblastoma	2	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0009594	Retinal hamartoma	2	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0012055	Ciliary body melanoma	2	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0011524	Iris melanoma	2	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0009919	Retinoblastoma	2	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0009594	Retinal hamartoma	2	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0012055	Ciliary body melanoma	2	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0011524	Iris melanoma	2	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0009737	Lisch nodules	2	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0012054	Choroidal melanoma	2	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0100780	Conjunctival hamartoma	2	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0009737	Lisch nodules	2	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0012054	Choroidal melanoma	2	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0100780	Conjunctival hamartoma	2	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0009919	Retinoblastoma	2	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0009594	Retinal hamartoma	2	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0012055	Ciliary body melanoma	2	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0011524	Iris melanoma	2	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0009594	Retinal hamartoma	2	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0012055	Ciliary body melanoma	2	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0011524	Iris melanoma	2	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0009919	Retinoblastoma	2	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0009737	Lisch nodules	2	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0012054	Choroidal melanoma	2	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0100780	Conjunctival hamartoma	2	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0012054	Choroidal melanoma	2	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0100780	Conjunctival hamartoma	2	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0009737	Lisch nodules	2	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0009594	Retinal hamartoma	2	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0012055	Ciliary body melanoma	2	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0011524	Iris melanoma	2	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0009919	Retinoblastoma	2	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0009594	Retinal hamartoma	2	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0012055	Ciliary body melanoma	2	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0011524	Iris melanoma	2	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0009919	Retinoblastoma	2	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0012054	Choroidal melanoma	2	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0100780	Conjunctival hamartoma	2	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0009737	Lisch nodules	2	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0012054	Choroidal melanoma	2	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0100780	Conjunctival hamartoma	2	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0009737	Lisch nodules	2	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0009594	Retinal hamartoma	2	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0012055	Ciliary body melanoma	2	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0011524	Iris melanoma	2	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0009919	Retinoblastoma	2	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0012055	Ciliary body melanoma	2	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208
HP:0100012	HP:0011524	Iris melanoma	2	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208
HP:0100012	HP:0009919	Retinoblastoma	2	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208
HP:0100012	HP:0009594	Retinal hamartoma	2	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208
HP:0100012	HP:0012054	Choroidal melanoma	2	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0100780	Conjunctival hamartoma	2	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0009737	Lisch nodules	2	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0012054	Choroidal melanoma	2	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208
HP:0100012	HP:0100780	Conjunctival hamartoma	2	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208
HP:0100012	HP:0009737	Lisch nodules	2	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0030508	Retinal cavernous hemangioma	3	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0030508	Retinal cavernous hemangioma	3	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0030509	Retinal racemose hemangioma	3	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	106	2718	600811
HP:0100012	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0030509	Retinal racemose hemangioma	3	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	100	2718	600811
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0030508	Retinal cavernous hemangioma	3	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0030508	Retinal cavernous hemangioma	3	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0030509	Retinal racemose hemangioma	3	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	479	3434	126340
HP:0100012	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0030509	Retinal racemose hemangioma	3	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	360	3434	126340
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0030508	Retinal cavernous hemangioma	3	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0030508	Retinal cavernous hemangioma	3	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0030509	Retinal racemose hemangioma	3	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	283	3435	133510
HP:0100012	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0030509	Retinal racemose hemangioma	3	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	186	3435	133510
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0030508	Retinal cavernous hemangioma	3	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0030508	Retinal cavernous hemangioma	3	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0030509	Retinal racemose hemangioma	3	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	538	3436	133520
HP:0100012	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0030509	Retinal racemose hemangioma	3	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	469	3436	133520
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0030508	Retinal cavernous hemangioma	3	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0030508	Retinal cavernous hemangioma	3	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0030509	Retinal racemose hemangioma	3	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	374	3437	133530
HP:0100012	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0030509	Retinal racemose hemangioma	3	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	361	3437	133530
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0030508	Retinal cavernous hemangioma	3	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0030508	Retinal cavernous hemangioma	3	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0030509	Retinal racemose hemangioma	3	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	231	12814	611153
HP:0100012	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0030509	Retinal racemose hemangioma	3	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	221	12814	611153
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0030508	Retinal cavernous hemangioma	3	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208
HP:0100012	HP:0030508	Retinal cavernous hemangioma	3	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208
HP:0100012	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0030509	Retinal racemose hemangioma	3	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	545	12816	613208
HP:0100012	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208
HP:0100012	HP:0030509	Retinal racemose hemangioma	3	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	518	12816	613208