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:0008776	HP:0008776	Abnormal renal artery morphology	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia		67
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia		76
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia		356
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1		151
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA		202
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia		2157
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia		73
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA		84
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia		178
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy		65
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome		40
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA		572
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA		237
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA		129
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA		131
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA		490
HP:0008776	HP:0008776	Abnormal renal artery morphology	0	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome		5
HP:0008776	HP:0031922	Renal artery duplication	1	CL E G H
HP:0008776	HP:0001920	Renal artery stenosis	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0008776	HP:0001920	Renal artery stenosis	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0008776	HP:0033261	Renal artery aneurysm	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0008776	HP:0001920	Renal artery stenosis	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0008776	HP:0001920	Renal artery stenosis	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0008776	HP:0001920	Renal artery stenosis	1	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1		151
HP:0008776	HP:0001920	Renal artery stenosis	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0008776	HP:0001920	Renal artery stenosis	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0008776	HP:0001920	Renal artery stenosis	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0008776	HP:0001920	Renal artery stenosis	1	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.	202
HP:0008776	HP:0001920	Renal artery stenosis	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0008776	HP:0001920	Renal artery stenosis	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0008776	HP:0001920	Renal artery stenosis	1	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.	84
HP:0008776	HP:0001920	Renal artery stenosis	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0008776	HP:0001920	Renal artery stenosis	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0008776	HP:0001920	Renal artery stenosis	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0008776	HP:0001920	Renal artery stenosis	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0008776	HP:0031684	Renal artery atherosclerosis	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040283 - Occasional	65
HP:0008776	HP:0001920	Renal artery stenosis	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040283 - Occasional	40
HP:0008776	HP:0001920	Renal artery stenosis	1	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA	.	572
HP:0008776	HP:0001920	Renal artery stenosis	1	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA	.	237
HP:0008776	HP:0001920	Renal artery stenosis	1	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA	.	129
HP:0008776	HP:0001920	Renal artery stenosis	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0008776	HP:0001920	Renal artery stenosis	1	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA	.	131
HP:0008776	HP:0001920	Renal artery stenosis	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0008776	HP:0001920	Renal artery stenosis	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6
HP:0008776	HP:0001920	Renal artery stenosis	1	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA	.	490
HP:0008776	HP:0001920	Renal artery stenosis	1	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome	.	5