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:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	46
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	4
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)		82
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	71
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13		95
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8		95
HP:0011040	HP:0011040	Abnormal intrahepatic bile duct morphology	0	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0011040	HP:0025344	Interlobular bile duct destruction	1	CL E G H
HP:0011040	HP:0005248	Intrahepatic biliary atresia	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	247
HP:0011040	HP:0006571	Reduced number of intrahepatic bile ducts	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0011040	HP:0005248	Intrahepatic biliary atresia	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	111
HP:0011040	HP:0006571	Reduced number of intrahepatic bile ducts	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0011040	HP:0033149	Intrahepatic bile duct dilatation	1	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0011040	HP:0006571	Reduced number of intrahepatic bile ducts	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040283 - Occasional	46
HP:0011040	HP:0033149	Intrahepatic bile duct dilatation	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0011040	HP:0005209	Intrahepatic bile duct cysts	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0011040	HP:0001401	Intrahepatic biliary dysgenesis	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0011040	HP:0001401	Intrahepatic biliary dysgenesis	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0011040	HP:0001401	Intrahepatic biliary dysgenesis	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0011040	HP:0005248	Intrahepatic biliary atresia	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	167
HP:0011040	HP:0005248	Intrahepatic biliary atresia	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0011040	HP:0033149	Intrahepatic bile duct dilatation	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0011040	HP:0005248	Intrahepatic biliary atresia	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	166
HP:0011040	HP:0006571	Reduced number of intrahepatic bile ducts	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0011040	HP:0033149	Intrahepatic bile duct dilatation	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0011040	HP:0005248	Intrahepatic biliary atresia	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0011040	HP:0033149	Intrahepatic bile duct dilatation	1	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13		95
HP:0011040	HP:0033149	Intrahepatic bile duct dilatation	1	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8		95
HP:0011040	HP:0034328	Fibro-obliterative bile-duct lesion	1	ZFYVE19 CL E G H	84936	20758	OMIM:619849