Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100603	HP:0100603	Toxemia of pregnancy	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy		146
HP:0100603	HP:0100603	Toxemia of pregnancy	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy		111
HP:0100603	HP:0100603	Toxemia of pregnancy	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9		5
HP:0100603	HP:0100603	Toxemia of pregnancy	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0100603	HP:0100603	Toxemia of pregnancy	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy		144
HP:0100603	HP:0100603	Toxemia of pregnancy	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome		39
HP:0100603	HP:0100603	Toxemia of pregnancy	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome		86
HP:0100603	HP:0100603	Toxemia of pregnancy	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome		57
HP:0100603	HP:0100603	Toxemia of pregnancy	0	CORIN CL E G H	10699	19012	OMIM:614595	Preeclampsia/eclampsia 5		5
HP:0100603	HP:0100603	Toxemia of pregnancy	0	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I		112
HP:0100603	HP:0100603	Toxemia of pregnancy	0	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I		73
HP:0100603	HP:0100603	Toxemia of pregnancy	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0100603	HP:0100603	Toxemia of pregnancy	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0100603	HP:0100603	Toxemia of pregnancy	0	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor		159
HP:0100603	HP:0100603	Toxemia of pregnancy	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0100603	HP:0100603	Toxemia of pregnancy	0	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis		200
HP:0100603	HP:0100603	Toxemia of pregnancy	0	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis		88
HP:0100603	HP:0100603	Toxemia of pregnancy	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0100603	HP:0100603	Toxemia of pregnancy	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0100603	HP:0100603	Toxemia of pregnancy	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia		70
HP:0100603	HP:0100603	Toxemia of pregnancy	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type		645
HP:0100603	HP:0100603	Toxemia of pregnancy	0	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1		8
HP:0100603	HP:0100603	Toxemia of pregnancy	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy		14
HP:0100603	HP:0100603	Toxemia of pregnancy	0	NR3C2 CL E G H	4306	7979	OMIM:605115	Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy		109
HP:0100603	HP:0100603	Toxemia of pregnancy	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0100603	HP:0100603	Toxemia of pregnancy	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0100603	HP:0100603	Toxemia of pregnancy	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0100603	HP:0100603	Toxemia of pregnancy	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100603	HP:0100603	Toxemia of pregnancy	0	STOX1 CL E G H	219736	23508	OMIM:609404	Preeclampsia/eclampsia 4		2
HP:0100603	HP:0100602	Preeclampsia	1	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	146
HP:0100603	HP:0100602	Preeclampsia	1	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	111
HP:0100603	HP:0100602	Preeclampsia	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.	5
HP:0100603	HP:0008071	Maternal hypertension	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0100603	HP:0100602	Preeclampsia	1	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	144
HP:0100603	HP:0100602	Preeclampsia	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	39
HP:0100603	HP:0008071	Maternal hypertension	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	39
HP:0100603	HP:0100601	Eclampsia	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	39
HP:0100603	HP:0008071	Maternal hypertension	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	86
HP:0100603	HP:0100601	Eclampsia	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	86
HP:0100603	HP:0100602	Preeclampsia	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	86
HP:0100603	HP:0008071	Maternal hypertension	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	57
HP:0100603	HP:0100602	Preeclampsia	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	57
HP:0100603	HP:0100601	Eclampsia	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	57
HP:0100603	HP:0100602	Preeclampsia	1	CORIN CL E G H	10699	19012	OMIM:614595	Preeclampsia/eclampsia 5		5
HP:0100603	HP:0100602	Preeclampsia	1	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional	112
HP:0100603	HP:0100602	Preeclampsia	1	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional	73
HP:0100603	HP:0100602	Preeclampsia	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0100603	HP:0100602	Preeclampsia	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	HP:0040283 - Occasional	250
HP:0100603	HP:0100602	Preeclampsia	1	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor	.	159
HP:0100603	HP:0100602	Preeclampsia	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0100603	HP:0100602	Preeclampsia	1	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent	200
HP:0100603	HP:0100602	Preeclampsia	1	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent	88
HP:0100603	HP:0008071	Maternal hypertension	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent
HP:0100603	HP:0100601	Eclampsia	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0100603	HP:0100602	Preeclampsia	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent
HP:0100603	HP:0100602	Preeclampsia	1	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040282 - Frequent	70
HP:0100603	HP:0100601	Eclampsia	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional	645
HP:0100603	HP:0008071	Maternal hypertension	1	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1	.	8
HP:0100603	HP:0100602	Preeclampsia	1	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1	.	8
HP:0100603	HP:0100601	Eclampsia	1	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1	.	8
HP:0100603	HP:0100602	Preeclampsia	1	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	14
HP:0100603	HP:0008071	Maternal hypertension	1	NR3C2 CL E G H	4306	7979	OMIM:605115	Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy		109
HP:0100603	HP:0100602	Preeclampsia	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0100603	HP:0100601	Eclampsia	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0100603	HP:0100602	Preeclampsia	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040283 - Occasional	40
HP:0100603	HP:0008071	Maternal hypertension	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100603	HP:0100601	Eclampsia	1	STOX1 CL E G H	219736	23508	OMIM:609404	Preeclampsia/eclampsia 4	.	2
HP:0100603	HP:0100602	Preeclampsia	1	STOX1 CL E G H	219736	23508	OMIM:609404	Preeclampsia/eclampsia 4		2