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:0004742	HP:0004742	Abnormal renal collecting system morphology	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040284 - Very rare	60
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder		12
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	TNXB CL E G H	7148	11976	OMIM:615963	Vesicoureteral reflux 8		134
HP:0004742	HP:0004742	Abnormal renal collecting system morphology	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0004742	HP:0100877	Renal diverticulum	1	CL E G H
HP:0004742	HP:0000081	Duplicated collecting system	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0004742	HP:0000081	Duplicated collecting system	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0004742	HP:0000081	Duplicated collecting system	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0004742	HP:0000081	Duplicated collecting system	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0004742	HP:0000081	Duplicated collecting system	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.	147
HP:0004742	HP:0000081	Duplicated collecting system	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0004742	HP:0000081	Duplicated collecting system	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0004742	HP:0000081	Duplicated collecting system	1	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	.
HP:0004742	HP:0000081	Duplicated collecting system	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0004742	HP:0000081	Duplicated collecting system	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0004742	HP:0000081	Duplicated collecting system	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0004742	HP:0000081	Duplicated collecting system	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0004742	HP:0000081	Duplicated collecting system	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0004742	HP:0000081	Duplicated collecting system	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0004742	HP:0000081	Duplicated collecting system	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0004742	HP:0000081	Duplicated collecting system	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0004742	HP:0000081	Duplicated collecting system	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	HP:0040283 - Occasional	46
HP:0004742	HP:0000081	Duplicated collecting system	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0004742	HP:0000081	Duplicated collecting system	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0004742	HP:0000081	Duplicated collecting system	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0004742	HP:0000081	Duplicated collecting system	1	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0004742	HP:0000081	Duplicated collecting system	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0004742	HP:0000081	Duplicated collecting system	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12
HP:0004742	HP:0000081	Duplicated collecting system	1	TNXB CL E G H	7148	11976	OMIM:615963	Vesicoureteral reflux 8	.	134
HP:0004742	HP:0000081	Duplicated collecting system	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140