Human Phenotype Ontology

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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:
Abnormal intestine morphology (HP:0002242)

Parent Node:
Abnormality of the small intestine (HP:0002244)

Parent Node:
Malabsorption (HP:0002024)

..Starting node
..Fat malabsorption (HP:0002630)

Term ID:

2630

Name:

Fat malabsorption

Synonym:

Definition:

Abnormality of the absorption of fat from the gastrointestinal tract.

Comments:

Reference:

HP:0002630

Genes and Diseases:

Child Nodes:

........

Steatorrhea (HP:0002570)

Sister Nodes:

Lactose intolerance (HP:0004789)

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:0002630	HP:0002630	Fat malabsorption	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.	146
HP:0002630	HP:0002630	Fat malabsorption	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6		2
HP:0002630	HP:0002630	Fat malabsorption	0	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2		62
HP:0002630	HP:0002630	Fat malabsorption	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0002630	HP:0002630	Fat malabsorption	0	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.	44
HP:0002630	HP:0002630	Fat malabsorption	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis		49
HP:0002630	HP:0002630	Fat malabsorption	0	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0002630	HP:0002630	Fat malabsorption	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1	.	144
HP:0002630	HP:0002630	Fat malabsorption	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002630	HP:0002630	Fat malabsorption	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002630	HP:0002630	Fat malabsorption	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0002630	HP:0002630	Fat malabsorption	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0002630	HP:0002630	Fat malabsorption	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0002630	HP:0002630	Fat malabsorption	0	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary		1371
HP:0002630	HP:0002630	Fat malabsorption	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002630	HP:0002630	Fat malabsorption	0	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome		7
HP:0002630	HP:0002630	Fat malabsorption	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis		13
HP:0002630	HP:0002630	Fat malabsorption	0	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary		39
HP:0002630	HP:0002630	Fat malabsorption	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0002630	HP:0002630	Fat malabsorption	0	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3		57
HP:0002630	HP:0002630	Fat malabsorption	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002630	HP:0002630	Fat malabsorption	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	5
HP:0002630	HP:0002630	Fat malabsorption	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0002630	HP:0002630	Fat malabsorption	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0002630	HP:0002630	Fat malabsorption	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0002630	HP:0002630	Fat malabsorption	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	1
HP:0002630	HP:0002630	Fat malabsorption	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0002630	HP:0002630	Fat malabsorption	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy		170
HP:0002630	HP:0002630	Fat malabsorption	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0002630	HP:0002630	Fat malabsorption	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0002630	HP:0002630	Fat malabsorption	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0002630	HP:0002630	Fat malabsorption	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0002630	HP:0002630	Fat malabsorption	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0002630	HP:0002630	Fat malabsorption	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0002630	HP:0002630	Fat malabsorption	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0002630	HP:0002630	Fat malabsorption	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0002630	HP:0002630	Fat malabsorption	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0002630	HP:0002630	Fat malabsorption	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0002630	HP:0002630	Fat malabsorption	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0002630	HP:0002630	Fat malabsorption	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease		73
HP:0002630	HP:0002630	Fat malabsorption	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0002630	HP:0002630	Fat malabsorption	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0002630	HP:0002630	Fat malabsorption	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040281 - Very frequent	81
HP:0002630	HP:0002630	Fat malabsorption	0	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA	.	81
HP:0002630	HP:0002630	Fat malabsorption	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0002630	HP:0002630	Fat malabsorption	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B		65
HP:0002630	HP:0002630	Fat malabsorption	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0002630	HP:0002630	Fat malabsorption	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0002630	HP:0002630	Fat malabsorption	0	PNLIP CL E G H	5406	9155	OMIM:614338	Pancreatic lipase deficiency	.	2
HP:0002630	HP:0002630	Fat malabsorption	0	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary		51
HP:0002630	HP:0002630	Fat malabsorption	0	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary		1
HP:0002630	HP:0002630	Fat malabsorption	0	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2		22
HP:0002630	HP:0002630	Fat malabsorption	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset		6
HP:0002630	HP:0002630	Fat malabsorption	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0002630	HP:0002630	Fat malabsorption	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040281 - Very frequent	8
HP:0002630	HP:0002630	Fat malabsorption	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	26
HP:0002630	HP:0002630	Fat malabsorption	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0002630	HP:0002630	Fat malabsorption	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0002630	HP:0002630	Fat malabsorption	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency		2
HP:0002630	HP:0002630	Fat malabsorption	0	SLC10A2 CL E G H	6555	10906	OMIM:613291	Bile acid malabsorption, primary		6
HP:0002630	HP:0002630	Fat malabsorption	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0002630	HP:0002630	Fat malabsorption	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0002630	HP:0002630	Fat malabsorption	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002630	HP:0002630	Fat malabsorption	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002630	HP:0002630	Fat malabsorption	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0002630	HP:0002630	Fat malabsorption	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0002630	HP:0002630	Fat malabsorption	0	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary		34
HP:0002630	HP:0002630	Fat malabsorption	0	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0002630	HP:0002630	Fat malabsorption	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent
HP:0002630	HP:0002630	Fat malabsorption	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0002630	HP:0002630	Fat malabsorption	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002630	HP:0002630	Fat malabsorption	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0002630	HP:0002630	Fat malabsorption	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0002630	HP:0002630	Fat malabsorption	0	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial	.	149
HP:0002630	HP:0002570	Steatorrhea	1	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.	2
HP:0002630	HP:0002570	Steatorrhea	1	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.	62
HP:0002630	HP:0002570	Steatorrhea	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0002630	HP:0002570	Steatorrhea	1	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0002630	HP:0002570	Steatorrhea	1	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0002630	HP:0002570	Steatorrhea	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	HP:0040284 - Very rare
HP:0002630	HP:0002570	Steatorrhea	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002630	HP:0002570	Steatorrhea	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0002630	HP:0002570	Steatorrhea	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0002630	HP:0002570	Steatorrhea	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0002630	HP:0002570	Steatorrhea	1	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.	1371
HP:0002630	HP:0002570	Steatorrhea	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002630	HP:0002570	Steatorrhea	1	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome	.	7
HP:0002630	HP:0002570	Steatorrhea	1	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.	13
HP:0002630	HP:0002570	Steatorrhea	1	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.	39
HP:0002630	HP:0002570	Steatorrhea	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.	57
HP:0002630	HP:0002570	Steatorrhea	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002630	HP:0002570	Steatorrhea	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0002630	HP:0002570	Steatorrhea	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0002630	HP:0002570	Steatorrhea	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0002630	HP:0002570	Steatorrhea	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0002630	HP:0002570	Steatorrhea	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.	1
HP:0002630	HP:0002570	Steatorrhea	1	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent	170
HP:0002630	HP:0002570	Steatorrhea	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0002630	HP:0002570	Steatorrhea	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0002630	HP:0002570	Steatorrhea	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0002630	HP:0002570	Steatorrhea	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0002630	HP:0002570	Steatorrhea	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002630	HP:0002570	Steatorrhea	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002630	HP:0002570	Steatorrhea	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0002630	HP:0002570	Steatorrhea	1	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0002630	HP:0002570	Steatorrhea	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0002630	HP:0002570	Steatorrhea	1	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0002630	HP:0002570	Steatorrhea	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency	.	73
HP:0002630	HP:0002570	Steatorrhea	1	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040281 - Very frequent	73
HP:0002630	HP:0002570	Steatorrhea	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0002630	HP:0002570	Steatorrhea	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0002630	HP:0002570	Steatorrhea	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040281 - Very frequent	81
HP:0002630	HP:0002570	Steatorrhea	1	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent
HP:0002630	HP:0002570	Steatorrhea	1	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.	65
HP:0002630	HP:0002570	Steatorrhea	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0002630	HP:0002570	Steatorrhea	1	PNLIP CL E G H	5406	9155	OMIM:614338	Pancreatic lipase deficiency	.	2
HP:0002630	HP:0002570	Steatorrhea	1	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.	51
HP:0002630	HP:0002570	Steatorrhea	1	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.	1
HP:0002630	HP:0002570	Steatorrhea	1	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2	.	22
HP:0002630	HP:0002570	Steatorrhea	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.	6
HP:0002630	HP:0002570	Steatorrhea	1	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0002630	HP:0002570	Steatorrhea	1	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040281 - Very frequent	8
HP:0002630	HP:0002570	Steatorrhea	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0002630	HP:0002570	Steatorrhea	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0002630	HP:0002570	Steatorrhea	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0002630	HP:0002570	Steatorrhea	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0002630	HP:0002570	Steatorrhea	1	SLC10A2 CL E G H	6555	10906	OMIM:613291	Bile acid malabsorption, primary		6
HP:0002630	HP:0002570	Steatorrhea	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0002630	HP:0002570	Steatorrhea	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0002630	HP:0002570	Steatorrhea	1	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002630	HP:0002570	Steatorrhea	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002630	HP:0002570	Steatorrhea	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0002630	HP:0002570	Steatorrhea	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0002630	HP:0002570	Steatorrhea	1	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.	34
HP:0002630	HP:0002570	Steatorrhea	1	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0002630	HP:0002570	Steatorrhea	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0002630	HP:0002570	Steatorrhea	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0002630	HP:0002570	Steatorrhea	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002630	HP:0002570	Steatorrhea	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0002630	HP:0002570	Steatorrhea	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0002630	HP:0002570	Steatorrhea	1	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial	.	149

Genes (61) :ABCB11 ACOX2 AKR1D1 AMACR ANTXR2 APOB ATP8B1 CCDC47 CEACAM3 CEACAM6 CFTR CLCA4 CLMP COX4I2 CTRC CYP7B1 DCTN4 DNAJC21 DZIP1L EDNRA EFL1 EPCAM FCGR2A GCLC GSTM3 HFE HLA-DQA1 HLA-DQB1 HMOX1 HSD3B7 KCNN4 LBR LIPA MIF MPI MTTP PERCC1 PEX12 PKHD1 PMM2 PNLIP PRSS1 PRSS2 PTF1A PTRH2 SAR1B SBDS SERPINA1 SHPK SLC10A2 SLC11A1 SLC26A9 SLC51B SLC6A14 SLC7A7 SLC9A3 SPINK1 SRP54 STX1A TGFB1 TJP2

Diseases (42) :OMIM:601847 OMIM:617308 OMIM:235555 ORPHA:79303 OMIM:214950 ORPHA:2176 OMIM:615558 OMIM:211600 OMIM:618268 ORPHA:586 OMIM:219700 OMIM:167800 OMIM:615237 OMIM:612714 OMIM:613812 ORPHA:79302 ORPHA:811 OMIM:260400 ORPHA:731 OMIM:617941 ORPHA:92050 OMIM:212750 OMIM:607765 OMIM:613471 OMIM:278000 ORPHA:75233 OMIM:602579 ORPHA:14 OMIM:200100 OMIM:266510 OMIM:212065 OMIM:614338 OMIM:615935 OMIM:616263 OMIM:246700 ORPHA:71 ORPHA:440713 OMIM:613291 OMIM:619481 ORPHA:470 OMIM:618752 OMIM:607748

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

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