Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16			32
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III			6
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome			7
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15			34
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome			34
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome			342
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15			90
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18			10
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease			12
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19			8
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome			304
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome			7
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5			4
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic			15
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	GLIS2 CL E G H	84662	29450	OMIM:611498	NEPHRONOPHTHISIS 7; NPHP7			83
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome			148
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome			48
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3			11
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome			65
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2			106
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome			106
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome			61
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	IQCB1 CL E G H	9657	28949	OMIM:609254	Senior-Loken syndrome 5			61
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	MAPKBP1 CL E G H	23005	29536	OMIM:617271	Nephronophthisis 20			6
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2			1
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	NEK8 CL E G H	284086	13387	OMIM:613824	NEPHRONOPHTHISIS 9; NPHP9			43
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.		85
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1			85
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome			85
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1			85
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3			157
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome			157
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4			220
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome			220
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4			220
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0100957	HP:0100957	Abnormal renal medulla morphology	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:0100957	HP:0100957	Abnormal renal medulla morphology	0	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome			61
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	SDCCAG8 CL E G H	10806	10671	OMIM:613615	SENIOR-LOKEN SYNDROME 7; SLSN7			61
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16			39
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome			166
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome			6
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9			6
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome			132
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	TTC21B CL E G H	79809	25660	OMIM:613820	Nephronophthisis 12			132
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome			95
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13			95
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome			95
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1			109
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14			49
HP:0100957	HP:0100957	Abnormal renal medulla morphology	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0100957	HP:0000090	Nephronophthisis	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0100957	HP:0000090	Nephronophthisis	1	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	.		32
HP:0100957	HP:0008659	Multiple small medullary renal cysts	1	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	HP:0040283 - Occasional		6
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0100957	HP:0000090	Nephronophthisis	1	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		7
HP:0100957	HP:0000090	Nephronophthisis	1	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15	.		34
HP:0100957	HP:0000090	Nephronophthisis	1	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		34
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0100957	HP:0000090	Nephronophthisis	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.		342
HP:0100957	HP:0000090	Nephronophthisis	1	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		342
HP:0100957	HP:0000090	Nephronophthisis	1	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15	HP:0040283 - Occasional		90
HP:0100957	HP:0000090	Nephronophthisis	1	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18	.		10
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0100957	HP:0000108	Renal corticomedullary cysts	1	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease	.		12
HP:0100957	HP:0000090	Nephronophthisis	1	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19			8
HP:0100957	HP:0000108	Renal corticomedullary cysts	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0100957	HP:0000090	Nephronophthisis	1	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		304
HP:0100957	HP:0000090	Nephronophthisis	1	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional
HP:0100957	HP:0000090	Nephronophthisis	1	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional
HP:0100957	HP:0000090	Nephronophthisis	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		7
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5			4
HP:0100957	HP:0000090	Nephronophthisis	1	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic	.		15
HP:0100957	HP:0000090	Nephronophthisis	1	GLIS2 CL E G H	84662	29450	OMIM:611498	NEPHRONOPHTHISIS 7; NPHP7			83
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0100957	HP:0000090	Nephronophthisis	1	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		148
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0100957	HP:0000090	Nephronophthisis	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.		148
HP:0100957	HP:0000090	Nephronophthisis	1	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		48
HP:0100957	HP:0000090	Nephronophthisis	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	.		48
HP:0100957	HP:0000090	Nephronophthisis	1	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	.		11
HP:0100957	HP:0000090	Nephronophthisis	1	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		65
HP:0100957	HP:0000090	Nephronophthisis	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.		106
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2			106
HP:0100957	HP:0000090	Nephronophthisis	1	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		106
HP:0100957	HP:0000090	Nephronophthisis	1	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		61
HP:0100957	HP:0000090	Nephronophthisis	1	IQCB1 CL E G H	9657	28949	OMIM:609254	Senior-Loken syndrome 5	.		61
HP:0100957	HP:0008659	Multiple small medullary renal cysts	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0100957	HP:0025361	Abnormality of medullary pyramid morphology	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent		8
HP:0100957	HP:0000090	Nephronophthisis	1	MAPKBP1 CL E G H	23005	29536	OMIM:617271	Nephronophthisis 20	.		6
HP:0100957	HP:0000108	Renal corticomedullary cysts	1	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.		1
HP:0100957	HP:0000090	Nephronophthisis	1	NEK8 CL E G H	284086	13387	OMIM:613824	NEPHRONOPHTHISIS 9; NPHP9			43
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0100957	HP:0000090	Nephronophthisis	1	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.		85
HP:0100957	HP:0000108	Renal corticomedullary cysts	1	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1	.		85
HP:0100957	HP:0000090	Nephronophthisis	1	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1			85
HP:0100957	HP:0000090	Nephronophthisis	1	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		85
HP:0100957	HP:0000090	Nephronophthisis	1	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1	.	HP:0003621 - Juvenile onset	85
HP:0100957	HP:0000090	Nephronophthisis	1	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3	.		157
HP:0100957	HP:0000108	Renal corticomedullary cysts	1	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3	.		157
HP:0100957	HP:0000090	Nephronophthisis	1	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		157
HP:0100957	HP:0000108	Renal corticomedullary cysts	1	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4	.		220
HP:0100957	HP:0000090	Nephronophthisis	1	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4	.		220
HP:0100957	HP:0000090	Nephronophthisis	1	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		220
HP:0100957	HP:0000090	Nephronophthisis	1	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.		220
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	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:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0100957	HP:0025361	Abnormality of medullary pyramid morphology	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent		88
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0100957	HP:0008659	Multiple small medullary renal cysts	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0100957	HP:0000090	Nephronophthisis	1	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0100957	HP:0000090	Nephronophthisis	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.		167
HP:0100957	HP:0000090	Nephronophthisis	1	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		61
HP:0100957	HP:0000090	Nephronophthisis	1	SDCCAG8 CL E G H	10806	10671	OMIM:613615	SENIOR-LOKEN SYNDROME 7; SLSN7			61
HP:0100957	HP:0000090	Nephronophthisis	1	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16			39
HP:0100957	HP:0000090	Nephronophthisis	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0100957	HP:0008659	Multiple small medullary renal cysts	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1	.		166
HP:0100957	HP:0000090	Nephronophthisis	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0100957	HP:0000090	Nephronophthisis	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.		166
HP:0100957	HP:0000090	Nephronophthisis	1	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0100957	HP:0000108	Renal corticomedullary cysts	1	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0100957	HP:0000090	Nephronophthisis	1	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome	HP:0040281 - Very frequent		166
HP:0100957	HP:0000090	Nephronophthisis	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.		166
HP:0100957	HP:0000108	Renal corticomedullary cysts	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0100957	HP:0000090	Nephronophthisis	1	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		6
HP:0100957	HP:0000090	Nephronophthisis	1	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	.		6
HP:0100957	HP:0000090	Nephronophthisis	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0100957	HP:0000090	Nephronophthisis	1	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		132
HP:0100957	HP:0000090	Nephronophthisis	1	TTC21B CL E G H	79809	25660	OMIM:613820	Nephronophthisis 12			132
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0100957	HP:0005932	Abnormal renal corticomedullary differentiation	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0100957	HP:0000090	Nephronophthisis	1	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		95
HP:0100957	HP:0000090	Nephronophthisis	1	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13	.		95
HP:0100957	HP:0000090	Nephronophthisis	1	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		95
HP:0100957	HP:0000090	Nephronophthisis	1	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8	.		95
HP:0100957	HP:0000108	Renal corticomedullary cysts	1	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1	.		109
HP:0100957	HP:0000090	Nephronophthisis	1	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1	.		109
HP:0100957	HP:0000090	Nephronophthisis	1	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14	.		49
HP:0100957	HP:0025362	Renal medullary pyramid hypoplasia	2	CL E G H
HP:0100957	HP:0005565	Reduced renal corticomedullary differentiation	2	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0100957	HP:0005565	Reduced renal corticomedullary differentiation	2	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0100957	HP:0005565	Reduced renal corticomedullary differentiation	2	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0100957	HP:0005565	Reduced renal corticomedullary differentiation	2	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0100957	HP:0005565	Reduced renal corticomedullary differentiation	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0100957	HP:0005565	Reduced renal corticomedullary differentiation	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		4
HP:0100957	HP:0005565	Reduced renal corticomedullary differentiation	2	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5			4
HP:0100957	HP:0005564	Absence of renal corticomedullary differentiation	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0100957	HP:0005564	Absence of renal corticomedullary differentiation	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0100957	HP:0005565	Reduced renal corticomedullary differentiation	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0100957	HP:0005564	Absence of renal corticomedullary differentiation	2	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.		106
HP:0100957	HP:0005565	Reduced renal corticomedullary differentiation	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0100957	HP:0005564	Absence of renal corticomedullary differentiation	2	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0100957	HP:0005564	Absence of renal corticomedullary differentiation	2	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:0100957	HP:0005565	Reduced renal corticomedullary differentiation	2	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0100957	HP:0005565	Reduced renal corticomedullary differentiation	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		563
HP:0100957	HP:0005564	Absence of renal corticomedullary differentiation	2	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.		563
HP:0100957	HP:0005565	Reduced renal corticomedullary differentiation	2	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0100957	HP:0005564	Absence of renal corticomedullary differentiation	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0100957	HP:0005565	Reduced renal corticomedullary differentiation	2	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0100957	HP:0005565	Reduced renal corticomedullary differentiation	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63