Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the liver (HP:0001392)

Parent Node:
Abnormality of the biliary system (HP:0004297)

..Starting node
..Cholestasis (HP:0001396)

Term ID:

1396

Name:

Cholestasis

Synonym:

Slowed or blocked flow of bile from liver

Definition:

Impairment of bile flow due to obstruction in bile ducts.

Comments:

Reference:

HP:0001396

Genes and Diseases:

Child Nodes:

........

Jaundice (HP:0000952)

................... HP:0001046 Intermittent jaundice
................... HP:0006579 Prolonged neonatal jaundice

........

Intrahepatic cholestasis (HP:0001406)

................... HP:0006575 Intrahepatic cholestasis with episodic jaundice

........

Cholestatic liver disease (HP:0002611)

................... HP:0006566 Neonatal cholestatic liver disease

........

Acholic stools (HP:0011985)

........

Extrahepatic cholestasis (HP:0012334)

Sister Nodes:

Abnormality of the gallbladder (HP:0005264)

Biliary tract abnormality (HP:0001080)

Malformation of the hepatic ductal plate (HP:0006563)

Portal fibrosis (HP:0006580)

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:0001396	HP:0001396	Cholestasis	0	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2		146
HP:0001396	HP:0001396	Cholestasis	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2		146
HP:0001396	HP:0001396	Cholestasis	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy		146
HP:0001396	HP:0001396	Cholestasis	0	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3		111
HP:0001396	HP:0001396	Cholestasis	0	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3		111
HP:0001396	HP:0001396	Cholestasis	0	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1		111
HP:0001396	HP:0001396	Cholestasis	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy		111
HP:0001396	HP:0001396	Cholestasis	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis		111
HP:0001396	HP:0001396	Cholestasis	0	ABCC2 CL E G H	1244	53	OMIM:237500	DUBIN-JOHNSON syndrome		119
HP:0001396	HP:0001396	Cholestasis	0	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome		119
HP:0001396	HP:0001396	Cholestasis	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0001396	HP:0001396	Cholestasis	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency		200
HP:0001396	HP:0001396	Cholestasis	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0001396	HP:0001396	Cholestasis	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0001396	HP:0001396	Cholestasis	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.	26
HP:0001396	HP:0001396	Cholestasis	0	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2		62
HP:0001396	HP:0001396	Cholestasis	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0001396	HP:0001396	Cholestasis	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0001396	HP:0001396	Cholestasis	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary		73
HP:0001396	HP:0001396	Cholestasis	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance		73
HP:0001396	HP:0001396	Cholestasis	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0001396	HP:0001396	Cholestasis	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0001396	HP:0001396	Cholestasis	0	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4		44
HP:0001396	HP:0001396	Cholestasis	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4	HP:0040282 - Frequent	44
HP:0001396	HP:0001396	Cholestasis	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis		150
HP:0001396	HP:0001396	Cholestasis	0	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1		150
HP:0001396	HP:0001396	Cholestasis	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	.	32
HP:0001396	HP:0001396	Cholestasis	0	AP1B1 CL E G H	162	554	ORPHA:171851	MEDNIK syndrome
HP:0001396	HP:0001396	Cholestasis	0	AP1S1 CL E G H	1174	559	ORPHA:171851	MEDNIK syndrome		1
HP:0001396	HP:0001396	Cholestasis	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.	1
HP:0001396	HP:0001396	Cholestasis	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0001396	HP:0001396	Cholestasis	0	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral	.	40
HP:0001396	HP:0001396	Cholestasis	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0001396	HP:0001396	Cholestasis	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8		62
HP:0001396	HP:0001396	Cholestasis	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0001396	HP:0001396	Cholestasis	0	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked		1
HP:0001396	HP:0001396	Cholestasis	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0001396	HP:0001396	Cholestasis	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0001396	HP:0001396	Cholestasis	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0001396	HP:0001396	Cholestasis	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent	192
HP:0001396	HP:0001396	Cholestasis	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease		315
HP:0001396	HP:0001396	Cholestasis	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0001396	HP:0001396	Cholestasis	0	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1		144
HP:0001396	HP:0001396	Cholestasis	0	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1		144
HP:0001396	HP:0001396	Cholestasis	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0001396	HP:0001396	Cholestasis	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy		144
HP:0001396	HP:0001396	Cholestasis	0	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral	.	8
HP:0001396	HP:0001396	Cholestasis	0	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0001396	HP:0001396	Cholestasis	0	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME		72
HP:0001396	HP:0001396	Cholestasis	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent	72
HP:0001396	HP:0001396	Cholestasis	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0001396	HP:0001396	Cholestasis	0	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia	.	2
HP:0001396	HP:0001396	Cholestasis	0	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma		5769
HP:0001396	HP:0001396	Cholestasis	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma		5769
HP:0001396	HP:0001396	Cholestasis	0	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma		7642
HP:0001396	HP:0001396	Cholestasis	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma		7642
HP:0001396	HP:0001396	Cholestasis	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome		1
HP:0001396	HP:0001396	Cholestasis	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0001396	HP:0001396	Cholestasis	0	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis		272
HP:0001396	HP:0001396	Cholestasis	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0001396	HP:0001396	Cholestasis	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0001396	HP:0001396	Cholestasis	0	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib
HP:0001396	HP:0001396	Cholestasis	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0001396	HP:0001396	Cholestasis	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma		289
HP:0001396	HP:0001396	Cholestasis	0	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18	HP:0040283 - Occasional	10
HP:0001396	HP:0001396	Cholestasis	0	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis		1371
HP:0001396	HP:0001396	Cholestasis	0	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis		11
HP:0001396	HP:0001396	Cholestasis	0	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent	11
HP:0001396	HP:0001396	Cholestasis	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0001396	HP:0001396	Cholestasis	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0001396	HP:0001396	Cholestasis	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0001396	HP:0001396	Cholestasis	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis		13
HP:0001396	HP:0001396	Cholestasis	0	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis		5
HP:0001396	HP:0001396	Cholestasis	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0001396	HP:0001396	Cholestasis	0	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria		72
HP:0001396	HP:0001396	Cholestasis	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0001396	HP:0001396	Cholestasis	0	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis		39
HP:0001396	HP:0001396	Cholestasis	0	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis		39
HP:0001396	HP:0001396	Cholestasis	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0001396	HP:0001396	Cholestasis	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent	11
HP:0001396	HP:0001396	Cholestasis	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0001396	HP:0001396	Cholestasis	0	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3		57
HP:0001396	HP:0001396	Cholestasis	0	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19	.	8
HP:0001396	HP:0001396	Cholestasis	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.	8
HP:0001396	HP:0001396	Cholestasis	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0001396	HP:0001396	Cholestasis	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001396	HP:0001396	Cholestasis	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0001396	HP:0001396	Cholestasis	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001396	HP:0001396	Cholestasis	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency		7
HP:0001396	HP:0001396	Cholestasis	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0001396	HP:0001396	Cholestasis	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij		38
HP:0001396	HP:0001396	Cholestasis	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0001396	HP:0001396	Cholestasis	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism		121
HP:0001396	HP:0001396	Cholestasis	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0001396	HP:0001396	Cholestasis	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0001396	HP:0001396	Cholestasis	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	HP:0040283 - Occasional	80
HP:0001396	HP:0001396	Cholestasis	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0001396	HP:0001396	Cholestasis	0	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1		6
HP:0001396	HP:0001396	Cholestasis	0	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis		6
HP:0001396	HP:0001396	Cholestasis	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis		51
HP:0001396	HP:0001396	Cholestasis	0	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5		51
HP:0001396	HP:0001396	Cholestasis	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy		170
HP:0001396	HP:0001396	Cholestasis	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0001396	HP:0001396	Cholestasis	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0001396	HP:0001396	Cholestasis	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0001396	HP:0001396	Cholestasis	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome		159
HP:0001396	HP:0001396	Cholestasis	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001396	HP:0001396	Cholestasis	0	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia		5
HP:0001396	HP:0001396	Cholestasis	0	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral	.	47
HP:0001396	HP:0001396	Cholestasis	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0001396	HP:0001396	Cholestasis	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor		8
HP:0001396	HP:0001396	Cholestasis	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001396	HP:0001396	Cholestasis	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0001396	HP:0001396	Cholestasis	0	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency		52
HP:0001396	HP:0001396	Cholestasis	0	GALK1 CL E G H	2584	4118	OMIM:230200	Galactokinase deficiency		23
HP:0001396	HP:0001396	Cholestasis	0	GALM CL E G H	130589	24063	ORPHA:570422	Galactose mutarotase deficiency	HP:0040283 - Occasional
HP:0001396	HP:0001396	Cholestasis	0	GALM CL E G H	130589	24063	OMIM:618881	GALACTOSEMIA IV; GALAC4
HP:0001396	HP:0001396	Cholestasis	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia		351
HP:0001396	HP:0001396	Cholestasis	0	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency		2
HP:0001396	HP:0001396	Cholestasis	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0001396	HP:0001396	Cholestasis	0	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0001396	HP:0001396	Cholestasis	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.	143
HP:0001396	HP:0001396	Cholestasis	0	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0001396	HP:0001396	Cholestasis	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare	101
HP:0001396	HP:0001396	Cholestasis	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001396	HP:0001396	Cholestasis	0	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency		12
HP:0001396	HP:0001396	Cholestasis	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040281 - Very frequent	2
HP:0001396	HP:0001396	Cholestasis	0	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis		5
HP:0001396	HP:0001396	Cholestasis	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency		99
HP:0001396	HP:0001396	Cholestasis	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	99
HP:0001396	HP:0001396	Cholestasis	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0001396	HP:0001396	Cholestasis	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0001396	HP:0001396	Cholestasis	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	60
HP:0001396	HP:0001396	Cholestasis	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0001396	HP:0001396	Cholestasis	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major		580
HP:0001396	HP:0001396	Cholestasis	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia		580
HP:0001396	HP:0001396	Cholestasis	0	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia		580
HP:0001396	HP:0001396	Cholestasis	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040283 - Occasional	580
HP:0001396	HP:0001396	Cholestasis	0	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal		50
HP:0001396	HP:0001396	Cholestasis	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0001396	HP:0001396	Cholestasis	0	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency		11
HP:0001396	HP:0001396	Cholestasis	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0001396	HP:0001396	Cholestasis	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease		90
HP:0001396	HP:0001396	Cholestasis	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0001396	HP:0001396	Cholestasis	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1		26
HP:0001396	HP:0001396	Cholestasis	0	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1		26
HP:0001396	HP:0001396	Cholestasis	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0001396	HP:0001396	Cholestasis	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001396	HP:0001396	Cholestasis	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040282 - Frequent
HP:0001396	HP:0001396	Cholestasis	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome		6
HP:0001396	HP:0001396	Cholestasis	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0001396	HP:0001396	Cholestasis	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	HP:0040282 - Frequent	148
HP:0001396	HP:0001396	Cholestasis	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	.	48
HP:0001396	HP:0001396	Cholestasis	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0001396	HP:0001396	Cholestasis	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0001396	HP:0001396	Cholestasis	0	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0001396	HP:0001396	Cholestasis	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0001396	HP:0001396	Cholestasis	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0001396	HP:0001396	Cholestasis	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0001396	HP:0001396	Cholestasis	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0001396	HP:0001396	Cholestasis	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0001396	HP:0001396	Cholestasis	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome		57
HP:0001396	HP:0001396	Cholestasis	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0001396	HP:0001396	Cholestasis	0	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2		3
HP:0001396	HP:0001396	Cholestasis	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0001396	HP:0001396	Cholestasis	0	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III		1
HP:0001396	HP:0001396	Cholestasis	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome		1
HP:0001396	HP:0001396	Cholestasis	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma		196
HP:0001396	HP:0001396	Cholestasis	0	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0001396	HP:0001396	Cholestasis	0	KYNU CL E G H	8942	6469	OMIM:236800	HYDROXYKYNURENINURIA		5
HP:0001396	HP:0001396	Cholestasis	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome		70
HP:0001396	HP:0001396	Cholestasis	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0001396	HP:0001396	Cholestasis	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0001396	HP:0001396	Cholestasis	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0001396	HP:0001396	Cholestasis	0	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease		73
HP:0001396	HP:0001396	Cholestasis	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia		106
HP:0001396	HP:0001396	Cholestasis	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0001396	HP:0001396	Cholestasis	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0001396	HP:0001396	Cholestasis	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001396	HP:0001396	Cholestasis	0	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral	.	32
HP:0001396	HP:0001396	Cholestasis	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0001396	HP:0001396	Cholestasis	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0001396	HP:0001396	Cholestasis	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0001396	HP:0001396	Cholestasis	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0001396	HP:0001396	Cholestasis	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0001396	HP:0001396	Cholestasis	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040281 - Very frequent	1
HP:0001396	HP:0001396	Cholestasis	0	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0001396	HP:0001396	Cholestasis	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001396	HP:0001396	Cholestasis	0	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0001396	HP:0001396	Cholestasis	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.	43
HP:0001396	HP:0001396	Cholestasis	0	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis		5
HP:0001396	HP:0001396	Cholestasis	0	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia		90
HP:0001396	HP:0001396	Cholestasis	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.	138
HP:0001396	HP:0001396	Cholestasis	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0001396	HP:0001396	Cholestasis	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0001396	HP:0001396	Cholestasis	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0001396	HP:0001396	Cholestasis	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.	157
HP:0001396	HP:0001396	Cholestasis	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0001396	HP:0001396	Cholestasis	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy		14
HP:0001396	HP:0001396	Cholestasis	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0001396	HP:0001396	Cholestasis	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0001396	HP:0001396	Cholestasis	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0001396	HP:0001396	Cholestasis	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma		1349
HP:0001396	HP:0001396	Cholestasis	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma		192
HP:0001396	HP:0001396	Cholestasis	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0001396	HP:0001396	Cholestasis	0	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia		63
HP:0001396	HP:0001396	Cholestasis	0	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia		63
HP:0001396	HP:0001396	Cholestasis	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040282 - Frequent	65
HP:0001396	HP:0001396	Cholestasis	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0001396	HP:0001396	Cholestasis	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0001396	HP:0001396	Cholestasis	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0001396	HP:0001396	Cholestasis	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0001396	HP:0001396	Cholestasis	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0001396	HP:0001396	Cholestasis	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0001396	HP:0001396	Cholestasis	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0001396	HP:0001396	Cholestasis	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0001396	HP:0001396	Cholestasis	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0001396	HP:0001396	Cholestasis	0	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)	.	46
HP:0001396	HP:0001396	Cholestasis	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0001396	HP:0001396	Cholestasis	0	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)		59
HP:0001396	HP:0001396	Cholestasis	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0001396	HP:0001396	Cholestasis	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0001396	HP:0001396	Cholestasis	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)		82
HP:0001396	HP:0001396	Cholestasis	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0001396	HP:0001396	Cholestasis	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0001396	HP:0001396	Cholestasis	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0001396	HP:0001396	Cholestasis	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0001396	HP:0001396	Cholestasis	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0001396	HP:0001396	Cholestasis	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0001396	HP:0001396	Cholestasis	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0001396	HP:0001396	Cholestasis	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII		64
HP:0001396	HP:0001396	Cholestasis	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0001396	HP:0001396	Cholestasis	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	54
HP:0001396	HP:0001396	Cholestasis	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	48
HP:0001396	HP:0001396	Cholestasis	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0001396	HP:0001396	Cholestasis	0	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema		36
HP:0001396	HP:0001396	Cholestasis	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0001396	HP:0001396	Cholestasis	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0001396	HP:0001396	Cholestasis	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0001396	HP:0001396	Cholestasis	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040281 - Very frequent	563
HP:0001396	HP:0001396	Cholestasis	0	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency		51
HP:0001396	HP:0001396	Cholestasis	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells		51
HP:0001396	HP:0001396	Cholestasis	0	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.	45
HP:0001396	HP:0001396	Cholestasis	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040282 - Frequent	27
HP:0001396	HP:0001396	Cholestasis	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.	27
HP:0001396	HP:0001396	Cholestasis	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0001396	HP:0001396	Cholestasis	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0001396	HP:0001396	Cholestasis	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0001396	HP:0001396	Cholestasis	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0001396	HP:0001396	Cholestasis	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0001396	HP:0001396	Cholestasis	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040283 - Occasional	134
HP:0001396	HP:0001396	Cholestasis	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0001396	HP:0001396	Cholestasis	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0001396	HP:0001396	Cholestasis	0	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis		51
HP:0001396	HP:0001396	Cholestasis	0	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis		1
HP:0001396	HP:0001396	Cholestasis	0	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma		1
HP:0001396	HP:0001396	Cholestasis	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0001396	HP:0001396	Cholestasis	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0001396	HP:0001396	Cholestasis	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0001396	HP:0001396	Cholestasis	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0001396	HP:0001396	Cholestasis	0	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type		13
HP:0001396	HP:0001396	Cholestasis	0	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis		13
HP:0001396	HP:0001396	Cholestasis	0	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis		13
HP:0001396	HP:0001396	Cholestasis	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome		13
HP:0001396	HP:0001396	Cholestasis	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome		8
HP:0001396	HP:0001396	Cholestasis	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome		16
HP:0001396	HP:0001396	Cholestasis	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0001396	HP:0001396	Cholestasis	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0001396	HP:0001396	Cholestasis	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0001396	HP:0001396	Cholestasis	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0001396	HP:0001396	Cholestasis	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0001396	HP:0001396	Cholestasis	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0001396	HP:0001396	Cholestasis	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040282 - Frequent	2
HP:0001396	HP:0001396	Cholestasis	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0001396	HP:0001396	Cholestasis	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0001396	HP:0001396	Cholestasis	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis		80
HP:0001396	HP:0001396	Cholestasis	0	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0001396	HP:0001396	Cholestasis	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040281 - Very frequent
HP:0001396	HP:0001396	Cholestasis	0	SERPINA1 CL E G H	5265	8941	ORPHA:60	Alpha-1-antitrypsin deficiency		131
HP:0001396	HP:0001396	Cholestasis	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0001396	HP:0001396	Cholestasis	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0001396	HP:0001396	Cholestasis	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0001396	HP:0001396	Cholestasis	0	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0001396	HP:0001396	Cholestasis	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome		57
HP:0001396	HP:0001396	Cholestasis	0	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset		82
HP:0001396	HP:0001396	Cholestasis	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0001396	HP:0001396	Cholestasis	0	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia		274
HP:0001396	HP:0001396	Cholestasis	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0001396	HP:0001396	Cholestasis	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects		255
HP:0001396	HP:0001396	Cholestasis	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0001396	HP:0001396	Cholestasis	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001396	HP:0001396	Cholestasis	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0001396	HP:0001396	Cholestasis	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0001396	HP:0001396	Cholestasis	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis		109
HP:0001396	HP:0001396	Cholestasis	0	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4		109
HP:0001396	HP:0001396	Cholestasis	0	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0001396	HP:0001396	Cholestasis	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0001396	HP:0001396	Cholestasis	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0001396	HP:0001396	Cholestasis	0	SLCO1B1 CL E G H	10599	10959	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic		52
HP:0001396	HP:0001396	Cholestasis	0	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome		52
HP:0001396	HP:0001396	Cholestasis	0	SLCO1B3 CL E G H	28234	10961	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic		60
HP:0001396	HP:0001396	Cholestasis	0	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome		60
HP:0001396	HP:0001396	Cholestasis	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma		504
HP:0001396	HP:0001396	Cholestasis	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0001396	HP:0001396	Cholestasis	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0001396	HP:0001396	Cholestasis	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0001396	HP:0001396	Cholestasis	0	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis		34
HP:0001396	HP:0001396	Cholestasis	0	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis		34
HP:0001396	HP:0001396	Cholestasis	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0001396	HP:0001396	Cholestasis	0	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis		228
HP:0001396	HP:0001396	Cholestasis	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis		228
HP:0001396	HP:0001396	Cholestasis	0	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3		156
HP:0001396	HP:0001396	Cholestasis	0	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis		156
HP:0001396	HP:0001396	Cholestasis	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis		156
HP:0001396	HP:0001396	Cholestasis	0	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2		156
HP:0001396	HP:0001396	Cholestasis	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001396	HP:0001396	Cholestasis	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0001396	HP:0001396	Cholestasis	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001396	HP:0001396	Cholestasis	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0001396	HP:0001396	Cholestasis	0	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated	.	57
HP:0001396	HP:0001396	Cholestasis	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency		57
HP:0001396	HP:0001396	Cholestasis	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040281 - Very frequent	241
HP:0001396	HP:0001396	Cholestasis	0	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.	1
HP:0001396	HP:0001396	Cholestasis	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0001396	HP:0001396	Cholestasis	0	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4		149
HP:0001396	HP:0001396	Cholestasis	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0001396	HP:0001396	Cholestasis	0	TMPRSS6 CL E G H	164656	16517	ORPHA:209981	IRIDA syndrome		65
HP:0001396	HP:0001396	Cholestasis	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0001396	HP:0001396	Cholestasis	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0001396	HP:0001396	Cholestasis	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma		911
HP:0001396	HP:0001396	Cholestasis	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency		28
HP:0001396	HP:0001396	Cholestasis	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0001396	HP:0001396	Cholestasis	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	HP:0040283 - Occasional	6
HP:0001396	HP:0001396	Cholestasis	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0001396	HP:0001396	Cholestasis	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0001396	HP:0001396	Cholestasis	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome		2
HP:0001396	HP:0001396	Cholestasis	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0001396	HP:0001396	Cholestasis	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0001396	HP:0001396	Cholestasis	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0001396	HP:0001396	Cholestasis	0	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia		97
HP:0001396	HP:0001396	Cholestasis	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001396	HP:0001396	Cholestasis	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0001396	HP:0001396	Cholestasis	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	HP:0040283 - Occasional	25
HP:0001396	HP:0001396	Cholestasis	0	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1		73
HP:0001396	HP:0001396	Cholestasis	0	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2		73
HP:0001396	HP:0001396	Cholestasis	0	UGT1A1 CL E G H	54658	12530	OMIM:218800	Crigler-Najjar syndrome, type I		73
HP:0001396	HP:0001396	Cholestasis	0	UGT1A1 CL E G H	54658	12530	OMIM:606785	Crigler-najjar syndrome, type II		73
HP:0001396	HP:0001396	Cholestasis	0	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal		73
HP:0001396	HP:0001396	Cholestasis	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0001396	HP:0001396	Cholestasis	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001396	HP:0001396	Cholestasis	0	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0001396	HP:0001396	Cholestasis	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0001396	HP:0001396	Cholestasis	0	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0001396	HP:0001396	Cholestasis	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0001396	HP:0001396	Cholestasis	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0001396	HP:0001396	Cholestasis	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0001396	HP:0001396	Cholestasis	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001396	HP:0001396	Cholestasis	0	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0001396	HP:0001396	Cholestasis	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2	HP:0040283 - Occasional	146
HP:0001396	HP:0000952	Jaundice	1	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2	.	146
HP:0001396	HP:0000952	Jaundice	1	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2		146
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.	146
HP:0001396	HP:0000952	Jaundice	1	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	146
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3	.	111
HP:0001396	HP:0000952	Jaundice	1	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3	HP:0040283 - Occasional	111
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.	111
HP:0001396	HP:0000952	Jaundice	1	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.	111
HP:0001396	HP:0000952	Jaundice	1	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	HP:0040283 - Occasional	111
HP:0001396	HP:0000952	Jaundice	1	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	111
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040281 - Very frequent	111
HP:0001396	HP:0000952	Jaundice	1	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040281 - Very frequent	119
HP:0001396	HP:0000952	Jaundice	1	ABCC2 CL E G H	1244	53	OMIM:237500	DUBIN-JOHNSON syndrome	.	119
HP:0001396	HP:0000952	Jaundice	1	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0001396	HP:0000952	Jaundice	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	200
HP:0001396	HP:0000952	Jaundice	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0001396	HP:0000952	Jaundice	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.	62
HP:0001396	HP:0000952	Jaundice	1	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.	62
HP:0001396	HP:0000952	Jaundice	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2	HP:0040281 - Very frequent	62
HP:0001396	HP:0000952	Jaundice	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.	50
HP:0001396	HP:0000952	Jaundice	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0001396	HP:0000952	Jaundice	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional	73
HP:0001396	HP:0000952	Jaundice	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0001396	HP:0000952	Jaundice	1	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4		44
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.	44
HP:0001396	HP:0002611	Cholestatic liver disease	1	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0001396	HP:0000952	Jaundice	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	150
HP:0001396	HP:0000952	Jaundice	1	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1	.	150
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	AP1B1 CL E G H	162	554	ORPHA:171851	MEDNIK syndrome	HP:0040282 - Frequent
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	AP1S1 CL E G H	1174	559	ORPHA:171851	MEDNIK syndrome	HP:0040282 - Frequent	1
HP:0001396	HP:0000952	Jaundice	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0001396	HP:0000952	Jaundice	1	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8		62
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0001396	HP:0000952	Jaundice	1	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked	.	1
HP:0001396	HP:0000952	Jaundice	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0001396	HP:0000952	Jaundice	1	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0001396	HP:0000952	Jaundice	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0001396	HP:0000952	Jaundice	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent	192
HP:0001396	HP:0000952	Jaundice	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent	315
HP:0001396	HP:0000952	Jaundice	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0001396	HP:0000952	Jaundice	1	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1		144
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1		144
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1	.	144
HP:0001396	HP:0000952	Jaundice	1	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1	.	144
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0001396	HP:0000952	Jaundice	1	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0001396	HP:0000952	Jaundice	1	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	144
HP:0001396	HP:0000952	Jaundice	1	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0001396	HP:0000952	Jaundice	1	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent	5769
HP:0001396	HP:0011985	Acholic stools	1	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent	5769
HP:0001396	HP:0012334	Extrahepatic cholestasis	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	5769
HP:0001396	HP:0000952	Jaundice	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	5769
HP:0001396	HP:0000952	Jaundice	1	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent	7642
HP:0001396	HP:0011985	Acholic stools	1	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent	7642
HP:0001396	HP:0000952	Jaundice	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	7642
HP:0001396	HP:0012334	Extrahepatic cholestasis	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	7642
HP:0001396	HP:0000952	Jaundice	1	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	1
HP:0001396	HP:0000952	Jaundice	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0001396	HP:0000952	Jaundice	1	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	272
HP:0001396	HP:0002611	Cholestatic liver disease	1	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO	.	3
HP:0001396	HP:0000952	Jaundice	1	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0001396	HP:0000952	Jaundice	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0001396	HP:0000952	Jaundice	1	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	.
HP:0001396	HP:0012334	Extrahepatic cholestasis	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional	102
HP:0001396	HP:0012334	Extrahepatic cholestasis	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	289
HP:0001396	HP:0000952	Jaundice	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	289
HP:0001396	HP:0000952	Jaundice	1	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	1371
HP:0001396	HP:0000952	Jaundice	1	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	.	11
HP:0001396	HP:0000952	Jaundice	1	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent	11
HP:0001396	HP:0000952	Jaundice	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0001396	HP:0000952	Jaundice	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0001396	HP:0000952	Jaundice	1	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.	13
HP:0001396	HP:0000952	Jaundice	1	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	5
HP:0001396	HP:0000952	Jaundice	1	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.	72
HP:0001396	HP:0000952	Jaundice	1	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria		72
HP:0001396	HP:0000952	Jaundice	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0001396	HP:0000952	Jaundice	1	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	39
HP:0001396	HP:0000952	Jaundice	1	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis		39
HP:0001396	HP:0000952	Jaundice	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.	57
HP:0001396	HP:0011985	Acholic stools	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.	57
HP:0001396	HP:0000952	Jaundice	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.	57
HP:0001396	HP:0000952	Jaundice	1	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3	HP:0040281 - Very frequent	57
HP:0001396	HP:0011985	Acholic stools	1	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0001396	HP:0000952	Jaundice	1	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.	8
HP:0001396	HP:0000952	Jaundice	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001396	HP:0000952	Jaundice	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.	57
HP:0001396	HP:0002611	Cholestatic liver disease	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001396	HP:0000952	Jaundice	1	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.	7
HP:0001396	HP:0002611	Cholestatic liver disease	1	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0001396	HP:0000952	Jaundice	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	HP:0040283 - Occasional	38
HP:0001396	HP:0000952	Jaundice	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0001396	HP:0000952	Jaundice	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism		121
HP:0001396	HP:0000952	Jaundice	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0001396	HP:0000952	Jaundice	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	4
HP:0001396	HP:0000952	Jaundice	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional	65
HP:0001396	HP:0000952	Jaundice	1	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1	.	6
HP:0001396	HP:0000952	Jaundice	1	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	6
HP:0001396	HP:0000952	Jaundice	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	51
HP:0001396	HP:0000952	Jaundice	1	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5		51
HP:0001396	HP:0002611	Cholestatic liver disease	1	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare	170
HP:0001396	HP:0000952	Jaundice	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0001396	HP:0000952	Jaundice	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0001396	HP:0000952	Jaundice	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0001396	HP:0000952	Jaundice	1	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	159
HP:0001396	HP:0000952	Jaundice	1	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia	HP:0040283 - Occasional	5
HP:0001396	HP:0000952	Jaundice	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional	8
HP:0001396	HP:0000952	Jaundice	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001396	HP:0000952	Jaundice	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0001396	HP:0000952	Jaundice	1	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.	52
HP:0001396	HP:0000952	Jaundice	1	GALK1 CL E G H	2584	4118	OMIM:230200	Galactokinase deficiency		23
HP:0001396	HP:0000952	Jaundice	1	GALM CL E G H	130589	24063	OMIM:618881	GALACTOSEMIA IV; GALAC4
HP:0001396	HP:0000952	Jaundice	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent	351
HP:0001396	HP:0000952	Jaundice	1	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040283 - Occasional	2
HP:0001396	HP:0000952	Jaundice	1	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0001396	HP:0000952	Jaundice	1	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory	.	17
HP:0001396	HP:0000952	Jaundice	1	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.	12
HP:0001396	HP:0000952	Jaundice	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0001396	HP:0000952	Jaundice	1	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	5
HP:0001396	HP:0002611	Cholestatic liver disease	1	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	99
HP:0001396	HP:0000952	Jaundice	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040282 - Frequent	580
HP:0001396	HP:0000952	Jaundice	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional	580
HP:0001396	HP:0000952	Jaundice	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional	580
HP:0001396	HP:0000952	Jaundice	1	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.	580
HP:0001396	HP:0000952	Jaundice	1	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal	HP:0040283 - Occasional	50
HP:0001396	HP:0000952	Jaundice	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0001396	HP:0000952	Jaundice	1	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.	11
HP:0001396	HP:0000952	Jaundice	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional	35
HP:0001396	HP:0000952	Jaundice	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0001396	HP:0011985	Acholic stools	1	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0001396	HP:0000952	Jaundice	1	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0001396	HP:0002611	Cholestatic liver disease	1	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1		26
HP:0001396	HP:0000952	Jaundice	1	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040281 - Very frequent	26
HP:0001396	HP:0000952	Jaundice	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0001396	HP:0000952	Jaundice	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001396	HP:0000952	Jaundice	1	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.	6
HP:0001396	HP:0000952	Jaundice	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0001396	HP:0000952	Jaundice	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001396	HP:0000952	Jaundice	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	46
HP:0001396	HP:0000952	Jaundice	1	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0001396	HP:0000952	Jaundice	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040284 - Very rare	48
HP:0001396	HP:0000952	Jaundice	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	4
HP:0001396	HP:0000952	Jaundice	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0001396	HP:0000952	Jaundice	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0001396	HP:0000952	Jaundice	1	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	57
HP:0001396	HP:0000952	Jaundice	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0001396	HP:0000952	Jaundice	1	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.	3
HP:0001396	HP:0000952	Jaundice	1	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0001396	HP:0000952	Jaundice	1	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III	.	1
HP:0001396	HP:0000952	Jaundice	1	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome		1
HP:0001396	HP:0000952	Jaundice	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	196
HP:0001396	HP:0012334	Extrahepatic cholestasis	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	196
HP:0001396	HP:0000952	Jaundice	1	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial	.	19
HP:0001396	HP:0000952	Jaundice	1	KYNU CL E G H	8942	6469	OMIM:236800	HYDROXYKYNURENINURIA		5
HP:0001396	HP:0000952	Jaundice	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040283 - Occasional	70
HP:0001396	HP:0000952	Jaundice	1	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0001396	HP:0000952	Jaundice	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0001396	HP:0000952	Jaundice	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0001396	HP:0000952	Jaundice	1	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease	HP:0040283 - Occasional	73
HP:0001396	HP:0000952	Jaundice	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106
HP:0001396	HP:0000952	Jaundice	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0001396	HP:0000952	Jaundice	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0001396	HP:0000952	Jaundice	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.	239
HP:0001396	HP:0000952	Jaundice	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0001396	HP:0000952	Jaundice	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0001396	HP:0000952	Jaundice	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001396	HP:0000952	Jaundice	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0001396	HP:0000952	Jaundice	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0001396	HP:0011985	Acholic stools	1	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0001396	HP:0000952	Jaundice	1	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0001396	HP:0000952	Jaundice	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001396	HP:0000952	Jaundice	1	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0001396	HP:0002611	Cholestatic liver disease	1	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis	HP:0040282 - Frequent	5
HP:0001396	HP:0000952	Jaundice	1	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent	90
HP:0001396	HP:0002611	Cholestatic liver disease	1	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.	138
HP:0001396	HP:0000952	Jaundice	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0001396	HP:0000952	Jaundice	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0001396	HP:0000952	Jaundice	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0001396	HP:0000952	Jaundice	1	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	14
HP:0001396	HP:0000952	Jaundice	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0001396	HP:0000952	Jaundice	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0001396	HP:0000952	Jaundice	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0001396	HP:0000952	Jaundice	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	1349
HP:0001396	HP:0012334	Extrahepatic cholestasis	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	1349
HP:0001396	HP:0000952	Jaundice	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	192
HP:0001396	HP:0012334	Extrahepatic cholestasis	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	192
HP:0001396	HP:0000952	Jaundice	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0001396	HP:0000952	Jaundice	1	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent	63
HP:0001396	HP:0000952	Jaundice	1	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent	63
HP:0001396	HP:0000952	Jaundice	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0001396	HP:0002611	Cholestatic liver disease	1	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare
HP:0001396	HP:0000952	Jaundice	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0001396	HP:0000952	Jaundice	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	169
HP:0001396	HP:0000952	Jaundice	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0001396	HP:0000952	Jaundice	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	75
HP:0001396	HP:0000952	Jaundice	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	4
HP:0001396	HP:0000952	Jaundice	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	65
HP:0001396	HP:0000952	Jaundice	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	66
HP:0001396	HP:0000952	Jaundice	1	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)	.	46
HP:0001396	HP:0000952	Jaundice	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	46
HP:0001396	HP:0000952	Jaundice	1	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)	.	59
HP:0001396	HP:0000952	Jaundice	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	59
HP:0001396	HP:0000952	Jaundice	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	62
HP:0001396	HP:0000952	Jaundice	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0001396	HP:0000952	Jaundice	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	82
HP:0001396	HP:0000952	Jaundice	1	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.	106
HP:0001396	HP:0000952	Jaundice	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	106
HP:0001396	HP:0000952	Jaundice	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	47
HP:0001396	HP:0000952	Jaundice	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0001396	HP:0000952	Jaundice	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	99
HP:0001396	HP:0000952	Jaundice	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	98
HP:0001396	HP:0000952	Jaundice	1	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.	64
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0001396	HP:0000952	Jaundice	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0001396	HP:0000952	Jaundice	1	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	HP:0040283 - Occasional	36
HP:0001396	HP:0000952	Jaundice	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0001396	HP:0000952	Jaundice	1	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0001396	HP:0000952	Jaundice	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	563
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040282 - Frequent	563
HP:0001396	HP:0000952	Jaundice	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040282 - Frequent	563
HP:0001396	HP:0000952	Jaundice	1	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency		51
HP:0001396	HP:0000952	Jaundice	1	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	.	51
HP:0001396	HP:0000952	Jaundice	1	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.	45
HP:0001396	HP:0000952	Jaundice	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0001396	HP:0000952	Jaundice	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.	36
HP:0001396	HP:0000952	Jaundice	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001396	HP:0000952	Jaundice	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	58
HP:0001396	HP:0002611	Cholestatic liver disease	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0001396	HP:0000952	Jaundice	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0001396	HP:0000952	Jaundice	1	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040283 - Occasional	134
HP:0001396	HP:0000952	Jaundice	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0001396	HP:0000952	Jaundice	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0001396	HP:0000952	Jaundice	1	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	51
HP:0001396	HP:0000952	Jaundice	1	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	1
HP:0001396	HP:0011985	Acholic stools	1	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent	1
HP:0001396	HP:0000952	Jaundice	1	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent	1
HP:0001396	HP:0000952	Jaundice	1	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040282 - Frequent	67
HP:0001396	HP:0000952	Jaundice	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent
HP:0001396	HP:0012334	Extrahepatic cholestasis	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent
HP:0001396	HP:0011985	Acholic stools	1	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0001396	HP:0000952	Jaundice	1	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type	.	13
HP:0001396	HP:0000952	Jaundice	1	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis	.	13
HP:0001396	HP:0000952	Jaundice	1	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis		13
HP:0001396	HP:0000952	Jaundice	1	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	13
HP:0001396	HP:0000952	Jaundice	1	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	8
HP:0001396	HP:0000952	Jaundice	1	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	16
HP:0001396	HP:0000952	Jaundice	1	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0001396	HP:0000952	Jaundice	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0001396	HP:0000952	Jaundice	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0001396	HP:0000952	Jaundice	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0001396	HP:0000952	Jaundice	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0001396	HP:0000952	Jaundice	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0001396	HP:0000952	Jaundice	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0001396	HP:0000952	Jaundice	1	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II	.	60
HP:0001396	HP:0000952	Jaundice	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0001396	HP:0000952	Jaundice	1	SERPINA1 CL E G H	5265	8941	ORPHA:60	Alpha-1-antitrypsin deficiency	HP:0040282 - Frequent	131
HP:0001396	HP:0000952	Jaundice	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0001396	HP:0002611	Cholestatic liver disease	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0001396	HP:0000952	Jaundice	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0001396	HP:0000952	Jaundice	1	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0001396	HP:0000952	Jaundice	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome		57
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.	82
HP:0001396	HP:0000952	Jaundice	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0001396	HP:0000952	Jaundice	1	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent	274
HP:0001396	HP:0000952	Jaundice	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040282 - Frequent	255
HP:0001396	HP:0000952	Jaundice	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.	255
HP:0001396	HP:0000952	Jaundice	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0001396	HP:0000952	Jaundice	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001396	HP:0000952	Jaundice	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0001396	HP:0000952	Jaundice	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0001396	HP:0000952	Jaundice	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	109
HP:0001396	HP:0000952	Jaundice	1	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4	.	109
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0001396	HP:0000952	Jaundice	1	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0001396	HP:0000952	Jaundice	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0001396	HP:0000952	Jaundice	1	SLCO1B1 CL E G H	10599	10959	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic	.	52
HP:0001396	HP:0000952	Jaundice	1	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome	HP:0040281 - Very frequent	52
HP:0001396	HP:0000952	Jaundice	1	SLCO1B3 CL E G H	28234	10961	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic	.	60
HP:0001396	HP:0000952	Jaundice	1	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome	HP:0040281 - Very frequent	60
HP:0001396	HP:0012334	Extrahepatic cholestasis	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	504
HP:0001396	HP:0000952	Jaundice	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	504
HP:0001396	HP:0000952	Jaundice	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0001396	HP:0000952	Jaundice	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional	49
HP:0001396	HP:0000952	Jaundice	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001396	HP:0000952	Jaundice	1	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	34
HP:0001396	HP:0000952	Jaundice	1	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis		34
HP:0001396	HP:0000952	Jaundice	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0001396	HP:0000952	Jaundice	1	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	228
HP:0001396	HP:0000952	Jaundice	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	228
HP:0001396	HP:0000952	Jaundice	1	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3		156
HP:0001396	HP:0000952	Jaundice	1	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	156
HP:0001396	HP:0000952	Jaundice	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	156
HP:0001396	HP:0000952	Jaundice	1	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2		156
HP:0001396	HP:0000952	Jaundice	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001396	HP:0000952	Jaundice	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	85
HP:0001396	HP:0002611	Cholestatic liver disease	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0001396	HP:0000952	Jaundice	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001396	HP:0002611	Cholestatic liver disease	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0001396	HP:0000952	Jaundice	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	70
HP:0001396	HP:0000952	Jaundice	1	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated	.	57
HP:0001396	HP:0000952	Jaundice	1	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency		57
HP:0001396	HP:0000952	Jaundice	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0001396	HP:0000952	Jaundice	1	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.	1
HP:0001396	HP:0000952	Jaundice	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4		149
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	TMPRSS6 CL E G H	164656	16517	ORPHA:209981	IRIDA syndrome	HP:0040282 - Frequent	65
HP:0001396	HP:0000952	Jaundice	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001396	HP:0000952	Jaundice	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	71
HP:0001396	HP:0000952	Jaundice	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	911
HP:0001396	HP:0012334	Extrahepatic cholestasis	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	911
HP:0001396	HP:0000952	Jaundice	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.	28
HP:0001396	HP:0000952	Jaundice	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0001396	HP:0000952	Jaundice	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0001396	HP:0000952	Jaundice	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0001396	HP:0000952	Jaundice	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome		2
HP:0001396	HP:0000952	Jaundice	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.	101
HP:0001396	HP:0000952	Jaundice	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0001396	HP:0000952	Jaundice	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0001396	HP:0000952	Jaundice	1	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent	97
HP:0001396	HP:0000952	Jaundice	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001396	HP:0000952	Jaundice	1	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0001396	HP:0000952	Jaundice	1	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1		73
HP:0001396	HP:0000952	Jaundice	1	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2		73
HP:0001396	HP:0000952	Jaundice	1	UGT1A1 CL E G H	54658	12530	OMIM:218800	Crigler-Najjar syndrome, type I		73
HP:0001396	HP:0000952	Jaundice	1	UGT1A1 CL E G H	54658	12530	OMIM:606785	Crigler-najjar syndrome, type II	.	73
HP:0001396	HP:0000952	Jaundice	1	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal	.	73
HP:0001396	HP:0002611	Cholestatic liver disease	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0001396	HP:0000952	Jaundice	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	116
HP:0001396	HP:0000952	Jaundice	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001396	HP:0000952	Jaundice	1	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0001396	HP:0000952	Jaundice	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0001396	HP:0002611	Cholestatic liver disease	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0001396	HP:0000952	Jaundice	1	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0001396	HP:0002611	Cholestatic liver disease	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0001396	HP:0000952	Jaundice	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0001396	HP:0002611	Cholestatic liver disease	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001396	HP:0000952	Jaundice	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001396	HP:0001406	Intrahepatic cholestasis	1	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0001396	HP:0000952	Jaundice	1	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0001396	HP:0001046	Intermittent jaundice	2	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.	146
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.	129
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.	44
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	1
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8		62
HP:0001396	HP:0006575	Intrahepatic cholestasis with episodic jaundice	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare	78
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent	192
HP:0001396	HP:0006575	Intrahepatic cholestasis with episodic jaundice	2	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1	.	144
HP:0001396	HP:0001046	Intermittent jaundice	2	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1	.	144
HP:0001396	HP:0006575	Intrahepatic cholestasis with episodic jaundice	2	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1	.	144
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO	.	3
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.	86
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.	72
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	121
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional	121
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	11
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	6
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	GALK1 CL E G H	2584	4118	OMIM:230200	Galactokinase deficiency	.	23
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	GALM CL E G H	130589	24063	OMIM:618881	GALACTOSEMIA IV; GALAC4
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	5
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0001396	HP:0006566	Neonatal cholestatic liver disease	2	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040281 - Very frequent	26
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	130
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0001396	HP:0001046	Intermittent jaundice	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	3
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.	1
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.	258
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	544
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0001396	HP:0001046	Intermittent jaundice	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	36
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040282 - Frequent	51
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.	36
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040283 - Occasional	49
HP:0001396	HP:0001046	Intermittent jaundice	2	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis	HP:0040283 - Occasional	13
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	60
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional	57
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0001396	HP:0001046	Intermittent jaundice	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	109
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	59
HP:0001396	HP:0001046	Intermittent jaundice	2	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome	HP:0040283 - Occasional	52
HP:0001396	HP:0001046	Intermittent jaundice	2	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome	HP:0040283 - Occasional	60
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	228
HP:0001396	HP:0001046	Intermittent jaundice	2	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3		156
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	156
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040282 - Frequent	57
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	155
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency		28
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	92
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.	56
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040282 - Frequent	97
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040281 - Very frequent	73
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2	HP:0040281 - Very frequent	73
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001396	HP:0006579	Prolonged neonatal jaundice	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2

Genes (275) :ABCB11 ABCB4 ABCC2 ABCD3 ACADVL ADAMTS13 ADAR ADK AKR1D1 ALDOA ALDOB ALG6 ALG8 AMACR ANK1 ANKS6 AP1B1 AP1S1 APC2 APOA1 ARG1 ARL13B ASAH1 ATP11C ATP6AP1 ATP6AP2 ATP7A ATP7B ATP8B1 B2M BAAT BCS1L BLVRA BRCA1 BRCA2 CALR CASK CASR CCDC115 CDAN1 CDIN1 CDKN1B CDKN2A CEP83 CFTR CLDN1 COG6 COG7 COX4I2 CPA1 CPOX CTCF CTRC CYP27A1 CYP7A1 CYP7B1 DCDC2 DEF6 DGUOK DHCR7 DHFR DNASE2 DPAGT1 DUOX2 DUOXA2 DZIP1L EARS2 EIF2AK3 EPB41 EPB42 EPCAM ETFA ETFB ETFDH F5 FARSB FCGR3B FGA FH FLI1 FOCAD G6PD GALE GALK1 GALM GALT GCLC GFM1 GH1 GLIS3 GLRX5 GNAS GNB2 GPI GPR35 GYPC HADHA HADHB HBB HBG2 HESX1 HK1 HMGCL HNF1B HSD17B4 HSD3B7 HTRA2 HYOU1 IARS1 IER3IP1 IFIH1 IFT140 IFT172 IL12A IL12RB1 IL18BP IL2RG INSR IRF5 IYD JAG1 JAK2 KCNN4 KIF12 KIF23 KMT2E KRAS KRT18 KYNU LBR LHX3 LHX4 LIPA LPL LSM11 LYST LYZ MARS1 MED12 MMACHC MMEL1 MPV17 MST1 MYO5B NAA10 NBAS NEK8 NEUROG3 NKX2-5 NOTCH2 NPC1 NPC2 NPHP3 NR1H4 NSD1 OCLN PALB2 PALLD PARS2 PAX8 PCSK1 PEPD PERCC1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PFKM PGM1 PHKA2 PHKG2 PIEZO1 PIGA PKD2 PKHD1 PKLR POLG2 POMC POU1F1 POU2AF1 PRF1 PRKAR1A PROP1 PRPS1 PRSS1 PRSS2 PTPN3 RAB27A RABL3 RBCK1 RFX6 RHAG RHCE RHD RINT1 RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 SAA1 SAMHD1 SC5D SEC23B SEMA4D SERPINA1 SETD2 SHPK SKIC3 SLC10A1 SLC16A2 SLC25A13 SLC26A4 SLC2A1 SLC30A10 SLC37A4 SLC44A1 SLC4A1 SLC51A SLC51B SLC5A5 SLCO1B1 SLCO1B3 SMAD4 SMPD1 SP110 SPIB SPINK1 SPOP SPTA1 SPTB SPTBN1 STX11 STXBP2 TBX19 TCF4 TFAM TG TJP2 TMEM67 TMPRSS6 TNFSF15 TNPO3 TP53 TPI1 TPO TRAF3IP1 TREX1 TRHR TRMU TSHB TSHR TTC26 TULP3 UBR1 UGT1A1 UNC13D UNC45A USP53 VIPAS39 VPS33B VPS50 WDR35 YARS1 ZFYVE19 ZNF699

Diseases (264) :OMIM:605479 OMIM:601847 ORPHA:69665 OMIM:614972 OMIM:602347 OMIM:600803 ORPHA:69663 OMIM:237500 ORPHA:234 OMIM:616278 ORPHA:26793 OMIM:274150 ORPHA:51 OMIM:614300 OMIM:235555 ORPHA:79303 OMIM:611881 OMIM:229600 ORPHA:469 ORPHA:79320 OMIM:608104 OMIM:214950 ORPHA:79095 ORPHA:822 OMIM:182900 OMIM:615382 ORPHA:171851 OMIM:609313 ORPHA:821 OMIM:105200 OMIM:207800 OMIM:612291 ORPHA:333 OMIM:301015 OMIM:300972 OMIM:301045 ORPHA:565 ORPHA:198 ORPHA:905 OMIM:277900 OMIM:243300 OMIM:147480 OMIM:211600 OMIM:619232 OMIM:603358 ORPHA:53693 OMIM:124000 OMIM:614156 ORPHA:70567 ORPHA:1333 ORPHA:131 OMIM:300908 ORPHA:676 OMIM:616828 OMIM:224120 OMIM:615631 ORPHA:276152 OMIM:615862 OMIM:607626 ORPHA:59303 OMIM:614576 ORPHA:79333 OMIM:608779 OMIM:612714 OMIM:121300 OMIM:618892 ORPHA:363611 ORPHA:103918 ORPHA:909 ORPHA:209902 OMIM:613812 ORPHA:79302 OMIM:616217 OMIM:617394 ORPHA:84081 OMIM:619573 OMIM:251880 OMIM:270400 OMIM:613839 OMIM:619858 OMIM:608093 ORPHA:95716 ORPHA:226316 ORPHA:731 OMIM:614924 ORPHA:1667 OMIM:611804 ORPHA:288 OMIM:612690 ORPHA:92050 OMIM:231680 OMIM:613658 ORPHA:464370 OMIM:606812 ORPHA:370348 OMIM:619991 OMIM:230350 OMIM:230200 ORPHA:570422 OMIM:618881 ORPHA:79239 ORPHA:33574 OMIM:609060 OMIM:262400 OMIM:610199 OMIM:616860 ORPHA:562 OMIM:619503 OMIM:613470 ORPHA:171 ORPHA:5 ORPHA:746 OMIM:609015 ORPHA:231222 ORPHA:231214 ORPHA:231226 OMIM:603903 ORPHA:232 OMIM:613977 ORPHA:226307 OMIM:235700 ORPHA:20 ORPHA:93111 OMIM:261515 OMIM:607765 ORPHA:79301 OMIM:617248 OMIM:233600 ORPHA:541423 OMIM:614231 OMIM:266920 OMIM:615630 ORPHA:186 OMIM:618549 ORPHA:276 OMIM:246200 OMIM:118450 ORPHA:3202 OMIM:616689 OMIM:619662 OMIM:105600 OMIM:618512 OMIM:215600 OMIM:236800 ORPHA:779 OMIM:613471 ORPHA:75234 OMIM:238600 ORPHA:167 OMIM:214500 OMIM:615486 OMIM:301068 ORPHA:79282 OMIM:256810 OMIM:619868 OMIM:300855 OMIM:616483 OMIM:615415 ORPHA:83620 ORPHA:95712 OMIM:610205 OMIM:257220 OMIM:607625 OMIM:267010 OMIM:208540 OMIM:617049 OMIM:117550 OMIM:251290 OMIM:618437 ORPHA:95720 ORPHA:71528 OMIM:170100 OMIM:214100 ORPHA:912 OMIM:614871 OMIM:614887 OMIM:614876 OMIM:614866 OMIM:614872 OMIM:214110 OMIM:232800 OMIM:614921 ORPHA:264580 OMIM:194380 ORPHA:447 OMIM:613095 ORPHA:53035 ORPHA:766 OMIM:266200 OMIM:618528 ORPHA:71526 OMIM:609734 OMIM:613038 ORPHA:540 OMIM:603553 ORPHA:615 ORPHA:423479 ORPHA:79477 OMIM:615895 OMIM:615710 OMIM:268150 OMIM:185000 ORPHA:3203 ORPHA:71275 OMIM:618641 OMIM:210710 ORPHA:85445 OMIM:607330 ORPHA:46059 OMIM:224100 ORPHA:60 ORPHA:440713 OMIM:222470 OMIM:619256 ORPHA:59 OMIM:605814 ORPHA:247598 ORPHA:168577 OMIM:608885 ORPHA:309854 OMIM:619525 OMIM:618868 OMIM:612653 OMIM:619484 OMIM:619481 OMIM:237450 ORPHA:3111 OMIM:257200 ORPHA:79124 OMIM:618828 OMIM:617948 OMIM:616649 OMIM:619475 OMIM:603552 OMIM:201400 ORPHA:199296 OMIM:617156 OMIM:615878 ORPHA:209981 OMIM:615512 OMIM:616629 OMIM:225750 ORPHA:99832 OMIM:613070 ORPHA:90674 ORPHA:90673 OMIM:619534 OMIM:619902 OMIM:243800 ORPHA:79234 ORPHA:79235 OMIM:218800 OMIM:606785 OMIM:237900 OMIM:619377 OMIM:619658 OMIM:613404 OMIM:620010 OMIM:208085 OMIM:619685 OMIM:613610 OMIM:619418 OMIM:619849 OMIM:619488

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen