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:0001395	HP:0001395	Hepatic fibrosis	0	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	.		111
HP:0001395	HP:0001395	Hepatic fibrosis	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0001395	HP:0001395	Hepatic fibrosis	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0001395	HP:0001395	Hepatic fibrosis	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.		216
HP:0001395	HP:0001395	Hepatic fibrosis	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001395	HP:0001395	Hepatic fibrosis	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0001395	HP:0001395	Hepatic fibrosis	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0001395	HP:0001395	Hepatic fibrosis	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	.		32
HP:0001395	HP:0001395	Hepatic fibrosis	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.		1
HP:0001395	HP:0001395	Hepatic fibrosis	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0001395	HP:0001395	Hepatic fibrosis	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		29
HP:0001395	HP:0001395	Hepatic fibrosis	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0001395	HP:0001395	Hepatic fibrosis	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare		78
HP:0001395	HP:0001395	Hepatic fibrosis	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0001395	HP:0001395	Hepatic fibrosis	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0001395	HP:0001395	Hepatic fibrosis	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0001395	HP:0001395	Hepatic fibrosis	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0001395	HP:0001395	Hepatic fibrosis	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0001395	HP:0001395	Hepatic fibrosis	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		114
HP:0001395	HP:0001395	Hepatic fibrosis	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0001395	HP:0001395	Hepatic fibrosis	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		118
HP:0001395	HP:0001395	Hepatic fibrosis	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		71
HP:0001395	HP:0001395	Hepatic fibrosis	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		97
HP:0001395	HP:0001395	Hepatic fibrosis	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		87
HP:0001395	HP:0001395	Hepatic fibrosis	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		25
HP:0001395	HP:0001395	Hepatic fibrosis	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		66
HP:0001395	HP:0001395	Hepatic fibrosis	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		119
HP:0001395	HP:0001395	Hepatic fibrosis	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0001395	HP:0001395	Hepatic fibrosis	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0001395	HP:0001395	Hepatic fibrosis	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0001395	HP:0001395	Hepatic fibrosis	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0001395	HP:0001395	Hepatic fibrosis	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0001395	HP:0001395	Hepatic fibrosis	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6	.		247
HP:0001395	HP:0001395	Hepatic fibrosis	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0001395	HP:0001395	Hepatic fibrosis	0	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome			34
HP:0001395	HP:0001395	Hepatic fibrosis	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0001395	HP:0001395	Hepatic fibrosis	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		342
HP:0001395	HP:0001395	Hepatic fibrosis	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0001395	HP:0001395	Hepatic fibrosis	0	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome			342
HP:0001395	HP:0001395	Hepatic fibrosis	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0001395	HP:0001395	Hepatic fibrosis	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0001395	HP:0001395	Hepatic fibrosis	0	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent		88
HP:0001395	HP:0001395	Hepatic fibrosis	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0001395	HP:0001395	Hepatic fibrosis	0	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19	.		8
HP:0001395	HP:0001395	Hepatic fibrosis	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0001395	HP:0001395	Hepatic fibrosis	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0001395	HP:0001395	Hepatic fibrosis	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0001395	HP:0001395	Hepatic fibrosis	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0001395	HP:0001395	Hepatic fibrosis	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	HP:0040283 - Occasional		9
HP:0001395	HP:0001395	Hepatic fibrosis	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0001395	HP:0001395	Hepatic fibrosis	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0001395	HP:0001395	Hepatic fibrosis	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0001395	HP:0001395	Hepatic fibrosis	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0001395	HP:0001395	Hepatic fibrosis	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001395	HP:0001395	Hepatic fibrosis	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001395	HP:0001395	Hepatic fibrosis	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040281 - Very frequent		4
HP:0001395	HP:0001395	Hepatic fibrosis	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0001395	HP:0001395	Hepatic fibrosis	0	FADD CL E G H	8772	3573	ORPHA:306550	FADD-related immunodeficiency	HP:0040282 - Frequent		3
HP:0001395	HP:0001395	Hepatic fibrosis	0	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS			3
HP:0001395	HP:0001395	Hepatic fibrosis	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0001395	HP:0001395	Hepatic fibrosis	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.		143
HP:0001395	HP:0001395	Hepatic fibrosis	0	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile	.		3
HP:0001395	HP:0001395	Hepatic fibrosis	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		2
HP:0001395	HP:0001395	Hepatic fibrosis	0	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0001395	HP:0001395	Hepatic fibrosis	0	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B			15
HP:0001395	HP:0001395	Hepatic fibrosis	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional		580
HP:0001395	HP:0001395	Hepatic fibrosis	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0001395	HP:0001395	Hepatic fibrosis	0	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0001395	HP:0001395	Hepatic fibrosis	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040282 - Frequent
HP:0001395	HP:0001395	Hepatic fibrosis	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0001395	HP:0001395	Hepatic fibrosis	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.		148
HP:0001395	HP:0001395	Hepatic fibrosis	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		48
HP:0001395	HP:0001395	Hepatic fibrosis	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	.		48
HP:0001395	HP:0001395	Hepatic fibrosis	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0001395	HP:0001395	Hepatic fibrosis	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		3
HP:0001395	HP:0001395	Hepatic fibrosis	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0001395	HP:0001395	Hepatic fibrosis	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001395	HP:0001395	Hepatic fibrosis	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		46
HP:0001395	HP:0001395	Hepatic fibrosis	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0001395	HP:0001395	Hepatic fibrosis	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0001395	HP:0001395	Hepatic fibrosis	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0001395	HP:0001395	Hepatic fibrosis	0	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome			106
HP:0001395	HP:0001395	Hepatic fibrosis	0	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome			61
HP:0001395	HP:0001395	Hepatic fibrosis	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		4
HP:0001395	HP:0001395	Hepatic fibrosis	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0001395	HP:0001395	Hepatic fibrosis	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0001395	HP:0001395	Hepatic fibrosis	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0001395	HP:0001395	Hepatic fibrosis	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		4
HP:0001395	HP:0001395	Hepatic fibrosis	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0001395	HP:0001395	Hepatic fibrosis	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001395	HP:0001395	Hepatic fibrosis	0	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent		375
HP:0001395	HP:0001395	Hepatic fibrosis	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		69
HP:0001395	HP:0001395	Hepatic fibrosis	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		127
HP:0001395	HP:0001395	Hepatic fibrosis	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0001395	HP:0001395	Hepatic fibrosis	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001395	HP:0001395	Hepatic fibrosis	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.		51
HP:0001395	HP:0001395	Hepatic fibrosis	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040281 - Very frequent		51
HP:0001395	HP:0001395	Hepatic fibrosis	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		1
HP:0001395	HP:0001395	Hepatic fibrosis	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare		81
HP:0001395	HP:0001395	Hepatic fibrosis	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional		101
HP:0001395	HP:0001395	Hepatic fibrosis	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.		43
HP:0001395	HP:0001395	Hepatic fibrosis	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0001395	HP:0001395	Hepatic fibrosis	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		27
HP:0001395	HP:0001395	Hepatic fibrosis	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		17
HP:0001395	HP:0001395	Hepatic fibrosis	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0001395	HP:0001395	Hepatic fibrosis	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		85
HP:0001395	HP:0001395	Hepatic fibrosis	0	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome			85
HP:0001395	HP:0001395	Hepatic fibrosis	0	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3	.		157
HP:0001395	HP:0001395	Hepatic fibrosis	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0001395	HP:0001395	Hepatic fibrosis	0	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome			157
HP:0001395	HP:0001395	Hepatic fibrosis	0	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome			220
HP:0001395	HP:0001395	Hepatic fibrosis	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0001395	HP:0001395	Hepatic fibrosis	0	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.		169
HP:0001395	HP:0001395	Hepatic fibrosis	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent		54
HP:0001395	HP:0001395	Hepatic fibrosis	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0001395	HP:0001395	Hepatic fibrosis	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent		48
HP:0001395	HP:0001395	Hepatic fibrosis	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040281 - Very frequent		563
HP:0001395	HP:0001395	Hepatic fibrosis	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040284 - Very rare		563
HP:0001395	HP:0001395	Hepatic fibrosis	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0001395	HP:0001395	Hepatic fibrosis	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040282 - Frequent		19
HP:0001395	HP:0001395	Hepatic fibrosis	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0001395	HP:0001395	Hepatic fibrosis	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional		150
HP:0001395	HP:0001395	Hepatic fibrosis	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0001395	HP:0001395	Hepatic fibrosis	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001395	HP:0001395	Hepatic fibrosis	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001395	HP:0001395	Hepatic fibrosis	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0001395	HP:0001395	Hepatic fibrosis	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040283 - Occasional		71
HP:0001395	HP:0001395	Hepatic fibrosis	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0001395	HP:0001395	Hepatic fibrosis	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0001395	HP:0001395	Hepatic fibrosis	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0001395	HP:0001395	Hepatic fibrosis	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001395	HP:0001395	Hepatic fibrosis	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0001395	HP:0001395	Hepatic fibrosis	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0001395	HP:0001395	Hepatic fibrosis	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0001395	HP:0001395	Hepatic fibrosis	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0001395	HP:0001395	Hepatic fibrosis	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent		5
HP:0001395	HP:0001395	Hepatic fibrosis	0	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21	.		5
HP:0001395	HP:0001395	Hepatic fibrosis	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		61
HP:0001395	HP:0001395	Hepatic fibrosis	0	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome			61
HP:0001395	HP:0001395	Hepatic fibrosis	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0001395	HP:0001395	Hepatic fibrosis	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0001395	HP:0001395	Hepatic fibrosis	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0001395	HP:0001395	Hepatic fibrosis	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001395	HP:0001395	Hepatic fibrosis	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional		82
HP:0001395	HP:0001395	Hepatic fibrosis	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0001395	HP:0001395	Hepatic fibrosis	0	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4			56
HP:0001395	HP:0001395	Hepatic fibrosis	0	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0001395	HP:0001395	Hepatic fibrosis	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0001395	HP:0001395	Hepatic fibrosis	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001395	HP:0001395	Hepatic fibrosis	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	HP:0003577 - Congenital onset	34
HP:0001395	HP:0001395	Hepatic fibrosis	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		241
HP:0001395	HP:0001395	Hepatic fibrosis	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0001395	HP:0001395	Hepatic fibrosis	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0001395	HP:0001395	Hepatic fibrosis	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0001395	HP:0001395	Hepatic fibrosis	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0001395	HP:0001395	Hepatic fibrosis	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0001395	HP:0001395	Hepatic fibrosis	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0001395	HP:0001395	Hepatic fibrosis	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0001395	HP:0001395	Hepatic fibrosis	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0001395	HP:0001395	Hepatic fibrosis	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0001395	HP:0001395	Hepatic fibrosis	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.		166
HP:0001395	HP:0001395	Hepatic fibrosis	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0001395	HP:0001395	Hepatic fibrosis	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0001395	HP:0001395	Hepatic fibrosis	0	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3	.		166
HP:0001395	HP:0001395	Hepatic fibrosis	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0001395	HP:0001395	Hepatic fibrosis	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0001395	HP:0001395	Hepatic fibrosis	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001395	HP:0001395	Hepatic fibrosis	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		71
HP:0001395	HP:0001395	Hepatic fibrosis	0	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome			6
HP:0001395	HP:0001395	Hepatic fibrosis	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	HP:0040283 - Occasional		6
HP:0001395	HP:0001395	Hepatic fibrosis	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		108
HP:0001395	HP:0001395	Hepatic fibrosis	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001395	HP:0001395	Hepatic fibrosis	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		41
HP:0001395	HP:0001395	Hepatic fibrosis	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0001395	HP:0001395	Hepatic fibrosis	0	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0001395	HP:0001395	Hepatic fibrosis	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0001395	HP:0001395	Hepatic fibrosis	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001395	HP:0001395	Hepatic fibrosis	0	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0001395	HP:0001395	Hepatic fibrosis	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		60
HP:0001395	HP:0001395	Hepatic fibrosis	0	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome			95
HP:0001395	HP:0001395	Hepatic fibrosis	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0001395	HP:0001395	Hepatic fibrosis	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.		136
HP:0001395	HP:0001405	Periportal fibrosis	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0001395	HP:0001405	Periportal fibrosis	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0001395	HP:0001405	Periportal fibrosis	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0001395	HP:0001405	Periportal fibrosis	1	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16			32
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		147
HP:0001395	HP:0012852	Hepatic bridging fibrosis	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		28
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		34
HP:0001395	HP:0001405	Periportal fibrosis	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		247
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		247
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		34
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		342
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		342
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		57
HP:0001395	HP:0012852	Hepatic bridging fibrosis	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0001395	HP:0012852	Hepatic bridging fibrosis	1	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0001395	HP:0001405	Periportal fibrosis	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		9
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		18
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		304
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0001395	HP:0001405	Periportal fibrosis	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040281 - Very frequent		4
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		4
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		4
HP:0001395	HP:0012852	Hepatic bridging fibrosis	1	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS			3
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040281 - Very frequent		15
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040281 - Very frequent
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		65
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		111
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		106
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		61
HP:0001395	HP:0012852	Hepatic bridging fibrosis	1	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0001395	HP:0001405	Periportal fibrosis	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0001395	HP:0012852	Hepatic bridging fibrosis	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		127
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		452
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		85
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		157
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		220
HP:0001395	HP:0001405	Periportal fibrosis	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040281 - Very frequent		563
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		563
HP:0001395	HP:0001405	Periportal fibrosis	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.		563
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040283 - Occasional		103
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		3
HP:0001395	HP:0012852	Hepatic bridging fibrosis	1	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		109
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		167
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		167
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		61
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4	HP:0040283 - Occasional		56
HP:0001395	HP:0001405	Periportal fibrosis	1	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0001395	HP:0001405	Periportal fibrosis	1	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		45
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		76
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		31
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		4
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		45
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		33
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		82
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		166
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		166
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		6
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001395	HP:0012852	Hepatic bridging fibrosis	1	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		2
HP:0001395	HP:0012852	Hepatic bridging fibrosis	1	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		95
HP:0001395	HP:0002612	Congenital hepatic fibrosis	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		136