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:0000110	HP:0000110	Renal dysplasia	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0000110	HP:0000110	Renal dysplasia	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040283 - Occasional	166
HP:0000110	HP:0000110	Renal dysplasia	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0000110	HP:0000110	Renal dysplasia	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0000110	HP:0000110	Renal dysplasia	0	BICC1 CL E G H	80114	19351	OMIM:601331	Renal dysplasia, cystic, susceptibility to	.	5
HP:0000110	HP:0000110	Renal dysplasia	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0000110	HP:0000110	Renal dysplasia	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	118
HP:0000110	HP:0000110	Renal dysplasia	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	405
HP:0000110	HP:0000110	Renal dysplasia	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0000110	HP:0000110	Renal dysplasia	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8		1
HP:0000110	HP:0000110	Renal dysplasia	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0000110	HP:0000110	Renal dysplasia	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0000110	HP:0000110	Renal dysplasia	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0000110	HP:0000110	Renal dysplasia	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0000110	HP:0000110	Renal dysplasia	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	.	304
HP:0000110	HP:0000110	Renal dysplasia	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0000110	HP:0000110	Renal dysplasia	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	HP:0040283 - Occasional	2
HP:0000110	HP:0000110	Renal dysplasia	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0000110	HP:0000110	Renal dysplasia	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0000110	HP:0000110	Renal dysplasia	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia	.	83
HP:0000110	HP:0000110	Renal dysplasia	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040280 - Obligate	83
HP:0000110	HP:0000110	Renal dysplasia	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000110	HP:0000110	Renal dysplasia	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0000110	HP:0000110	Renal dysplasia	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	36
HP:0000110	HP:0000110	Renal dysplasia	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040284 - Very rare
HP:0000110	HP:0000110	Renal dysplasia	0	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3	.
HP:0000110	HP:0000110	Renal dysplasia	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	108
HP:0000110	HP:0000110	Renal dysplasia	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0000110	HP:0000110	Renal dysplasia	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0000110	HP:0000110	Renal dysplasia	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000110	HP:0000110	Renal dysplasia	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	79
HP:0000110	HP:0000110	Renal dysplasia	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.	4
HP:0000110	HP:0000110	Renal dysplasia	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	124
HP:0000110	HP:0000110	Renal dysplasia	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	124
HP:0000110	HP:0000110	Renal dysplasia	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0000110	HP:0000110	Renal dysplasia	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	145
HP:0000110	HP:0000110	Renal dysplasia	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0000110	HP:0000110	Renal dysplasia	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0000110	HP:0000110	Renal dysplasia	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent	22
HP:0000110	HP:0000110	Renal dysplasia	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0000110	HP:0000110	Renal dysplasia	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional	35
HP:0000110	HP:0000110	Renal dysplasia	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	31
HP:0000110	HP:0000110	Renal dysplasia	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0000110	HP:0000110	Renal dysplasia	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	65
HP:0000110	HP:0000110	Renal dysplasia	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0000110	HP:0000110	Renal dysplasia	0	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome	HP:0040281 - Very frequent	157
HP:0000110	HP:0000110	Renal dysplasia	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.	157
HP:0000110	HP:0000110	Renal dysplasia	0	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome	HP:0040282 - Frequent	39
HP:0000110	HP:0000110	Renal dysplasia	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.	3
HP:0000110	HP:0000110	Renal dysplasia	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0000110	HP:0000110	Renal dysplasia	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0000110	HP:0000110	Renal dysplasia	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0000110	HP:0000110	Renal dysplasia	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0000110	HP:0000110	Renal dysplasia	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0000110	HP:0000110	Renal dysplasia	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0000110	HP:0000110	Renal dysplasia	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	759
HP:0000110	HP:0000110	Renal dysplasia	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0000110	HP:0000110	Renal dysplasia	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	244
HP:0000110	HP:0000110	Renal dysplasia	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0000110	HP:0000110	Renal dysplasia	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0000110	HP:0000110	Renal dysplasia	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0000110	HP:0000110	Renal dysplasia	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0000110	HP:0000110	Renal dysplasia	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	126
HP:0000110	HP:0000110	Renal dysplasia	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	427
HP:0000110	HP:0000110	Renal dysplasia	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	40
HP:0000110	HP:0000110	Renal dysplasia	0	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.	61
HP:0000110	HP:0000110	Renal dysplasia	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional	53
HP:0000110	HP:0000110	Renal dysplasia	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	11
HP:0000110	HP:0000110	Renal dysplasia	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0000110	HP:0000110	Renal dysplasia	0	SIX5 CL E G H	147912	10891	OMIM:610896	Branchiootorenal syndrome 2	.	10
HP:0000110	HP:0000110	Renal dysplasia	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0000110	HP:0000110	Renal dysplasia	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.	22
HP:0000110	HP:0000110	Renal dysplasia	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0000110	HP:0000110	Renal dysplasia	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	73
HP:0000110	HP:0000110	Renal dysplasia	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0000110	HP:0000110	Renal dysplasia	0	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2	.	5
HP:0000110	HP:0000110	Renal dysplasia	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000110	HP:0000110	Renal dysplasia	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0000110	HP:0000110	Renal dysplasia	0	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8	HP:0040283 - Occasional	41
HP:0000110	HP:0000110	Renal dysplasia	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0000110	HP:0000110	Renal dysplasia	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0000110	HP:0000110	Renal dysplasia	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.	4
HP:0000110	HP:0000110	Renal dysplasia	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000110	HP:0008718	Unilateral renal dysplasia	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040283 - Occasional	22
HP:0000110	HP:0008718	Unilateral renal dysplasia	1	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0000110	HP:0008718	Unilateral renal dysplasia	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0000110	HP:0012582	Bilateral renal dysplasia	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0000110	HP:0012582	Bilateral renal dysplasia	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS