Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002024	HP:0002024	Malabsorption	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2		146
HP:0002024	HP:0002024	Malabsorption	0	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.	111
HP:0002024	HP:0002024	Malabsorption	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6		2
HP:0002024	HP:0002024	Malabsorption	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	1
HP:0002024	HP:0002024	Malabsorption	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040283 - Occasional	76
HP:0002024	HP:0002024	Malabsorption	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0002024	HP:0002024	Malabsorption	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040282 - Frequent	19
HP:0002024	HP:0002024	Malabsorption	0	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2		62
HP:0002024	HP:0002024	Malabsorption	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2	HP:0040281 - Very frequent	62
HP:0002024	HP:0002024	Malabsorption	0	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4		44
HP:0002024	HP:0002024	Malabsorption	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0002024	HP:0002024	Malabsorption	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040282 - Frequent	3179
HP:0002024	HP:0002024	Malabsorption	0	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0002024	HP:0002024	Malabsorption	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040282 - Frequent	166
HP:0002024	HP:0002024	Malabsorption	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0002024	HP:0002024	Malabsorption	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent	192
HP:0002024	HP:0002024	Malabsorption	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0002024	HP:0002024	Malabsorption	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	4
HP:0002024	HP:0002024	Malabsorption	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	385
HP:0002024	HP:0002024	Malabsorption	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040283 - Occasional	109
HP:0002024	HP:0002024	Malabsorption	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002024	HP:0002024	Malabsorption	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	1
HP:0002024	HP:0002024	Malabsorption	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	11
HP:0002024	HP:0002024	Malabsorption	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0002024	HP:0002024	Malabsorption	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	147
HP:0002024	HP:0002024	Malabsorption	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002024	HP:0002024	Malabsorption	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0002024	HP:0002024	Malabsorption	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0002024	HP:0002024	Malabsorption	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0002024	HP:0002024	Malabsorption	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	9
HP:0002024	HP:0002024	Malabsorption	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	6
HP:0002024	HP:0002024	Malabsorption	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	4
HP:0002024	HP:0002024	Malabsorption	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0002024	HP:0002024	Malabsorption	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	1
HP:0002024	HP:0002024	Malabsorption	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0002024	HP:0002024	Malabsorption	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	1371
HP:0002024	HP:0002024	Malabsorption	0	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary		1371
HP:0002024	HP:0002024	Malabsorption	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0002024	HP:0002024	Malabsorption	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	3
HP:0002024	HP:0002024	Malabsorption	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0002024	HP:0002024	Malabsorption	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome		7
HP:0002024	HP:0002024	Malabsorption	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040282 - Frequent
HP:0002024	HP:0002024	Malabsorption	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis		13
HP:0002024	HP:0002024	Malabsorption	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0002024	HP:0002024	Malabsorption	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040282 - Frequent	88
HP:0002024	HP:0002024	Malabsorption	0	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary		39
HP:0002024	HP:0002024	Malabsorption	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	27
HP:0002024	HP:0002024	Malabsorption	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	111
HP:0002024	HP:0002024	Malabsorption	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0002024	HP:0002024	Malabsorption	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0002024	HP:0002024	Malabsorption	0	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3		57
HP:0002024	HP:0002024	Malabsorption	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0002024	HP:0002024	Malabsorption	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0002024	HP:0002024	Malabsorption	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent	48
HP:0002024	HP:0002024	Malabsorption	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0002024	HP:0002024	Malabsorption	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0002024	HP:0002024	Malabsorption	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	79
HP:0002024	HP:0002024	Malabsorption	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0002024	HP:0002024	Malabsorption	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0002024	HP:0002024	Malabsorption	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	3
HP:0002024	HP:0002024	Malabsorption	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0002024	HP:0002024	Malabsorption	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0002024	HP:0002024	Malabsorption	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0002024	HP:0002024	Malabsorption	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent	151
HP:0002024	HP:0002024	Malabsorption	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040281 - Very frequent	170
HP:0002024	HP:0002024	Malabsorption	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	170
HP:0002024	HP:0002024	Malabsorption	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002024	HP:0002024	Malabsorption	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.	106
HP:0002024	HP:0002024	Malabsorption	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	159
HP:0002024	HP:0002024	Malabsorption	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	15
HP:0002024	HP:0002024	Malabsorption	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0002024	HP:0002024	Malabsorption	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	114
HP:0002024	HP:0002024	Malabsorption	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0002024	HP:0002024	Malabsorption	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	FLNA CL E G H	2316	3754	ORPHA:99811	Neuronal intestinal pseudoobstruction	HP:0040281 - Very frequent	493
HP:0002024	HP:0002024	Malabsorption	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0002024	HP:0002024	Malabsorption	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	2
HP:0002024	HP:0002024	Malabsorption	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0002024	HP:0002024	Malabsorption	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	1
HP:0002024	HP:0002024	Malabsorption	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002024	HP:0002024	Malabsorption	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002024	HP:0002024	Malabsorption	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002024	HP:0002024	Malabsorption	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	6
HP:0002024	HP:0002024	Malabsorption	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	38
HP:0002024	HP:0002024	Malabsorption	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0002024	HP:0002024	Malabsorption	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0002024	HP:0002024	Malabsorption	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0002024	HP:0002024	Malabsorption	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	2
HP:0002024	HP:0002024	Malabsorption	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	3
HP:0002024	HP:0002024	Malabsorption	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	55
HP:0002024	HP:0002024	Malabsorption	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1		26
HP:0002024	HP:0002024	Malabsorption	0	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040281 - Very frequent	26
HP:0002024	HP:0002024	Malabsorption	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia	.
HP:0002024	HP:0002024	Malabsorption	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0002024	HP:0002024	Malabsorption	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	7
HP:0002024	HP:0002024	Malabsorption	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0002024	HP:0002024	Malabsorption	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0002024	HP:0002024	Malabsorption	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002024	HP:0002024	Malabsorption	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent	1
HP:0002024	HP:0002024	Malabsorption	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	4
HP:0002024	HP:0002024	Malabsorption	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	57
HP:0002024	HP:0002024	Malabsorption	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	3
HP:0002024	HP:0002024	Malabsorption	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0002024	HP:0002024	Malabsorption	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0002024	HP:0002024	Malabsorption	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	196
HP:0002024	HP:0002024	Malabsorption	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0002024	HP:0002024	Malabsorption	0	LCT CL E G H	3938	6530	OMIM:223000	Lactase deficiency, congenital		72
HP:0002024	HP:0002024	Malabsorption	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0002024	HP:0002024	Malabsorption	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	88
HP:0002024	HP:0002024	Malabsorption	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0002024	HP:0002024	Malabsorption	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease		73
HP:0002024	HP:0002024	Malabsorption	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040283 - Occasional	186
HP:0002024	HP:0002024	Malabsorption	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0002024	HP:0002024	Malabsorption	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0002024	HP:0002024	Malabsorption	0	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE		5
HP:0002024	HP:0002024	Malabsorption	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0002024	HP:0002024	Malabsorption	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional	281
HP:0002024	HP:0002024	Malabsorption	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002024	HP:0002024	Malabsorption	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	1
HP:0002024	HP:0002024	Malabsorption	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1819
HP:0002024	HP:0002024	Malabsorption	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	131
HP:0002024	HP:0002024	Malabsorption	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002024	HP:0002024	Malabsorption	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0002024	HP:0002024	Malabsorption	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2162
HP:0002024	HP:0002024	Malabsorption	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2232
HP:0002024	HP:0002024	Malabsorption	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0002024	HP:0002024	Malabsorption	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0002024	HP:0002024	Malabsorption	0	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA		81
HP:0002024	HP:0002024	Malabsorption	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0002024	HP:0002024	Malabsorption	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	13
HP:0002024	HP:0002024	Malabsorption	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0002024	HP:0002024	Malabsorption	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	67
HP:0002024	HP:0002024	Malabsorption	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	37
HP:0002024	HP:0002024	Malabsorption	0	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis	HP:0040281 - Very frequent	5
HP:0002024	HP:0002024	Malabsorption	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0002024	HP:0002024	Malabsorption	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0002024	HP:0002024	Malabsorption	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0002024	HP:0002024	Malabsorption	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0002024	HP:0002024	Malabsorption	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0002024	HP:0002024	Malabsorption	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0002024	HP:0002024	Malabsorption	0	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency	.	65
HP:0002024	HP:0002024	Malabsorption	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040281 - Very frequent
HP:0002024	HP:0002024	Malabsorption	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	169
HP:0002024	HP:0002024	Malabsorption	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	75
HP:0002024	HP:0002024	Malabsorption	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	4
HP:0002024	HP:0002024	Malabsorption	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B		65
HP:0002024	HP:0002024	Malabsorption	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	65
HP:0002024	HP:0002024	Malabsorption	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	66
HP:0002024	HP:0002024	Malabsorption	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	46
HP:0002024	HP:0002024	Malabsorption	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	59
HP:0002024	HP:0002024	Malabsorption	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	62
HP:0002024	HP:0002024	Malabsorption	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	82
HP:0002024	HP:0002024	Malabsorption	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	106
HP:0002024	HP:0002024	Malabsorption	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	47
HP:0002024	HP:0002024	Malabsorption	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	99
HP:0002024	HP:0002024	Malabsorption	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	98
HP:0002024	HP:0002024	Malabsorption	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0002024	HP:0002024	Malabsorption	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	162
HP:0002024	HP:0002024	Malabsorption	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	43
HP:0002024	HP:0002024	Malabsorption	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0002024	HP:0002024	Malabsorption	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0002024	HP:0002024	Malabsorption	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	56
HP:0002024	HP:0002024	Malabsorption	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1121
HP:0002024	HP:0002024	Malabsorption	0	PNLIP CL E G H	5406	9155	OMIM:614338	Pancreatic lipase deficiency		2
HP:0002024	HP:0002024	Malabsorption	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0002024	HP:0002024	Malabsorption	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.	464
HP:0002024	HP:0002024	Malabsorption	0	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary		51
HP:0002024	HP:0002024	Malabsorption	0	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary		1
HP:0002024	HP:0002024	Malabsorption	0	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2		22
HP:0002024	HP:0002024	Malabsorption	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset		6
HP:0002024	HP:0002024	Malabsorption	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040282 - Frequent	445
HP:0002024	HP:0002024	Malabsorption	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0002024	HP:0002024	Malabsorption	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0002024	HP:0002024	Malabsorption	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0002024	HP:0002024	Malabsorption	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0002024	HP:0002024	Malabsorption	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0002024	HP:0002024	Malabsorption	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040282 - Frequent	37
HP:0002024	HP:0002024	Malabsorption	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	1
HP:0002024	HP:0002024	Malabsorption	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0002024	HP:0002024	Malabsorption	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0002024	HP:0002024	Malabsorption	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040282 - Frequent	2
HP:0002024	HP:0002024	Malabsorption	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease		8
HP:0002024	HP:0002024	Malabsorption	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0002024	HP:0002024	Malabsorption	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002024	HP:0002024	Malabsorption	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0002024	HP:0002024	Malabsorption	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0002024	HP:0002024	Malabsorption	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	48
HP:0002024	HP:0002024	Malabsorption	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	131
HP:0002024	HP:0002024	Malabsorption	0	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.	2
HP:0002024	HP:0002024	Malabsorption	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency		2
HP:0002024	HP:0002024	Malabsorption	0	SI CL E G H	6476	10856	OMIM:222900	Sucrase-isomaltase deficiency, congenital	.	98
HP:0002024	HP:0002024	Malabsorption	0	SLC10A2 CL E G H	6555	10906	OMIM:613291	Bile acid malabsorption, primary		6
HP:0002024	HP:0002024	Malabsorption	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	2
HP:0002024	HP:0002024	Malabsorption	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	5
HP:0002024	HP:0002024	Malabsorption	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0002024	HP:0002024	Malabsorption	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.	71
HP:0002024	HP:0002024	Malabsorption	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040281 - Very frequent	55
HP:0002024	HP:0002024	Malabsorption	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.	101
HP:0002024	HP:0002024	Malabsorption	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002024	HP:0002024	Malabsorption	0	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption	.	74
HP:0002024	HP:0002024	Malabsorption	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0002024	HP:0002024	Malabsorption	0	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040282 - Frequent	12
HP:0002024	HP:0002024	Malabsorption	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0002024	HP:0002024	Malabsorption	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	7
HP:0002024	HP:0002024	Malabsorption	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	13
HP:0002024	HP:0002024	Malabsorption	0	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary		34
HP:0002024	HP:0002024	Malabsorption	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040281 - Very frequent	100
HP:0002024	HP:0002024	Malabsorption	0	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0002024	HP:0002024	Malabsorption	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0002024	HP:0002024	Malabsorption	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0002024	HP:0002024	Malabsorption	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0002024	HP:0002024	Malabsorption	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0002024	HP:0002024	Malabsorption	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0002024	HP:0002024	Malabsorption	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	2
HP:0002024	HP:0002024	Malabsorption	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0002024	HP:0002024	Malabsorption	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0002024	HP:0002024	Malabsorption	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0002024	HP:0002024	Malabsorption	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	13
HP:0002024	HP:0002024	Malabsorption	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0002024	HP:0002024	Malabsorption	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	253
HP:0002024	HP:0002024	Malabsorption	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0002024	HP:0002024	Malabsorption	0	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial		149
HP:0002024	HP:0002024	Malabsorption	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0002024	HP:0002024	Malabsorption	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	TREH CL E G H	11181	12266	ORPHA:103909	Trehalase deficiency		2
HP:0002024	HP:0002024	Malabsorption	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.	4
HP:0002024	HP:0002024	Malabsorption	0	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0002024	HP:0002024	Malabsorption	0	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0002024	HP:0002024	Malabsorption	0	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0002024	HP:0002024	Malabsorption	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0002024	HP:0002024	Malabsorption	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0002024	HP:0002024	Malabsorption	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040281 - Very frequent	25
HP:0002024	HP:0002024	Malabsorption	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0002024	HP:0002024	Malabsorption	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0002024	HP:0002024	Malabsorption	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002024	HP:0002024	Malabsorption	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	389
HP:0002024	HP:0002024	Malabsorption	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0002024	HP:0002024	Malabsorption	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	9
HP:0002024	HP:0002024	Malabsorption	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	9
HP:0002024	HP:0041049	Starch intolerance	1	CL E G H
HP:0002024	HP:0002630	Fat malabsorption	1	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.	146
HP:0002024	HP:0002630	Fat malabsorption	1	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6		2
HP:0002024	HP:0002630	Fat malabsorption	1	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2		62
HP:0002024	HP:0002630	Fat malabsorption	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0002024	HP:0002630	Fat malabsorption	1	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.	44
HP:0002024	HP:0002630	Fat malabsorption	1	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis		49
HP:0002024	HP:0002630	Fat malabsorption	1	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0002024	HP:0002630	Fat malabsorption	1	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1	.	144
HP:0002024	HP:0002630	Fat malabsorption	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002024	HP:0002630	Fat malabsorption	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002024	HP:0002630	Fat malabsorption	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0002024	HP:0002630	Fat malabsorption	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0002024	HP:0002630	Fat malabsorption	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0002024	HP:0002630	Fat malabsorption	1	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary		1371
HP:0002024	HP:0002630	Fat malabsorption	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002024	HP:0002630	Fat malabsorption	1	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome		7
HP:0002024	HP:0002630	Fat malabsorption	1	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis		13
HP:0002024	HP:0002630	Fat malabsorption	1	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary		39
HP:0002024	HP:0002630	Fat malabsorption	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0002024	HP:0002630	Fat malabsorption	1	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3		57
HP:0002024	HP:0002630	Fat malabsorption	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002024	HP:0002630	Fat malabsorption	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	5
HP:0002024	HP:0002630	Fat malabsorption	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0002024	HP:0002630	Fat malabsorption	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0002024	HP:0002630	Fat malabsorption	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0002024	HP:0002630	Fat malabsorption	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	1
HP:0002024	HP:0002630	Fat malabsorption	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0002024	HP:0002630	Fat malabsorption	1	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy		170
HP:0002024	HP:0002630	Fat malabsorption	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0002024	HP:0002630	Fat malabsorption	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0002024	HP:0002630	Fat malabsorption	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0002024	HP:0002630	Fat malabsorption	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0002024	HP:0002630	Fat malabsorption	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0002024	HP:0002630	Fat malabsorption	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0002024	HP:0002630	Fat malabsorption	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0002024	HP:0002630	Fat malabsorption	1	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0002024	HP:0002630	Fat malabsorption	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0002024	HP:0002630	Fat malabsorption	1	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0002024	HP:0004789	Lactose intolerance	1	LCT CL E G H	3938	6530	OMIM:223000	Lactase deficiency, congenital	.	72
HP:0002024	HP:0002630	Fat malabsorption	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0002024	HP:0002630	Fat malabsorption	1	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease		73
HP:0002024	HP:0004789	Lactose intolerance	1	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE		5
HP:0002024	HP:0002630	Fat malabsorption	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0002024	HP:0002630	Fat malabsorption	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0002024	HP:0004789	Lactose intolerance	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional	68
HP:0002024	HP:0002630	Fat malabsorption	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040281 - Very frequent	81
HP:0002024	HP:0002630	Fat malabsorption	1	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA	.	81
HP:0002024	HP:0002630	Fat malabsorption	1	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0002024	HP:0002630	Fat malabsorption	1	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B		65
HP:0002024	HP:0004789	Lactose intolerance	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0002024	HP:0002630	Fat malabsorption	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0002024	HP:0002630	Fat malabsorption	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0002024	HP:0002630	Fat malabsorption	1	PNLIP CL E G H	5406	9155	OMIM:614338	Pancreatic lipase deficiency	.	2
HP:0002024	HP:0002630	Fat malabsorption	1	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary		51
HP:0002024	HP:0002630	Fat malabsorption	1	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary		1
HP:0002024	HP:0002630	Fat malabsorption	1	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2		22
HP:0002024	HP:0002630	Fat malabsorption	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset		6
HP:0002024	HP:0002630	Fat malabsorption	1	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0002024	HP:0002630	Fat malabsorption	1	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040281 - Very frequent	8
HP:0002024	HP:0004789	Lactose intolerance	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002024	HP:0002630	Fat malabsorption	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	26
HP:0002024	HP:0002630	Fat malabsorption	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0002024	HP:0002630	Fat malabsorption	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0002024	HP:0002630	Fat malabsorption	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency		2
HP:0002024	HP:0002630	Fat malabsorption	1	SLC10A2 CL E G H	6555	10906	OMIM:613291	Bile acid malabsorption, primary		6
HP:0002024	HP:0002630	Fat malabsorption	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0002024	HP:0002630	Fat malabsorption	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0002024	HP:0002630	Fat malabsorption	1	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002024	HP:0002630	Fat malabsorption	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002024	HP:0002630	Fat malabsorption	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0002024	HP:0002630	Fat malabsorption	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0002024	HP:0002630	Fat malabsorption	1	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary		34
HP:0002024	HP:0002630	Fat malabsorption	1	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0002024	HP:0002630	Fat malabsorption	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent
HP:0002024	HP:0002630	Fat malabsorption	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0002024	HP:0002630	Fat malabsorption	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002024	HP:0002630	Fat malabsorption	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0002024	HP:0002630	Fat malabsorption	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0002024	HP:0002630	Fat malabsorption	1	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial	.	149
HP:0002024	HP:0002570	Steatorrhea	2	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.	2
HP:0002024	HP:0002570	Steatorrhea	2	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.	62
HP:0002024	HP:0002570	Steatorrhea	2	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0002024	HP:0002570	Steatorrhea	2	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0002024	HP:0002570	Steatorrhea	2	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0002024	HP:0002570	Steatorrhea	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	HP:0040284 - Very rare
HP:0002024	HP:0002570	Steatorrhea	2	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002024	HP:0002570	Steatorrhea	2	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0002024	HP:0002570	Steatorrhea	2	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0002024	HP:0002570	Steatorrhea	2	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0002024	HP:0002570	Steatorrhea	2	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.	1371
HP:0002024	HP:0002570	Steatorrhea	2	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002024	HP:0002570	Steatorrhea	2	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome	.	7
HP:0002024	HP:0002570	Steatorrhea	2	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.	13
HP:0002024	HP:0002570	Steatorrhea	2	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.	39
HP:0002024	HP:0002570	Steatorrhea	2	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.	57
HP:0002024	HP:0002570	Steatorrhea	2	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002024	HP:0002570	Steatorrhea	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0002024	HP:0002570	Steatorrhea	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0002024	HP:0002570	Steatorrhea	2	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0002024	HP:0002570	Steatorrhea	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0002024	HP:0002570	Steatorrhea	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.	1
HP:0002024	HP:0002570	Steatorrhea	2	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent	170
HP:0002024	HP:0002570	Steatorrhea	2	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0002024	HP:0002570	Steatorrhea	2	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0002024	HP:0002570	Steatorrhea	2	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0002024	HP:0002570	Steatorrhea	2	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0002024	HP:0002570	Steatorrhea	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002024	HP:0002570	Steatorrhea	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002024	HP:0002570	Steatorrhea	2	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0002024	HP:0002570	Steatorrhea	2	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0002024	HP:0002570	Steatorrhea	2	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0002024	HP:0002570	Steatorrhea	2	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0002024	HP:0002570	Steatorrhea	2	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency	.	73
HP:0002024	HP:0002570	Steatorrhea	2	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040281 - Very frequent	73
HP:0002024	HP:0002570	Steatorrhea	2	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0002024	HP:0002570	Steatorrhea	2	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0002024	HP:0002570	Steatorrhea	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040281 - Very frequent	81
HP:0002024	HP:0002570	Steatorrhea	2	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent
HP:0002024	HP:0002570	Steatorrhea	2	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.	65
HP:0002024	HP:0002570	Steatorrhea	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0002024	HP:0002570	Steatorrhea	2	PNLIP CL E G H	5406	9155	OMIM:614338	Pancreatic lipase deficiency	.	2
HP:0002024	HP:0002570	Steatorrhea	2	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.	51
HP:0002024	HP:0002570	Steatorrhea	2	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.	1
HP:0002024	HP:0002570	Steatorrhea	2	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2	.	22
HP:0002024	HP:0002570	Steatorrhea	2	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.	6
HP:0002024	HP:0002570	Steatorrhea	2	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0002024	HP:0002570	Steatorrhea	2	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040281 - Very frequent	8
HP:0002024	HP:0002570	Steatorrhea	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0002024	HP:0002570	Steatorrhea	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0002024	HP:0002570	Steatorrhea	2	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0002024	HP:0002570	Steatorrhea	2	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0002024	HP:0002570	Steatorrhea	2	SLC10A2 CL E G H	6555	10906	OMIM:613291	Bile acid malabsorption, primary		6
HP:0002024	HP:0002570	Steatorrhea	2	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0002024	HP:0002570	Steatorrhea	2	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0002024	HP:0002570	Steatorrhea	2	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002024	HP:0002570	Steatorrhea	2	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002024	HP:0002570	Steatorrhea	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0002024	HP:0002570	Steatorrhea	2	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0002024	HP:0002570	Steatorrhea	2	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.	34
HP:0002024	HP:0002570	Steatorrhea	2	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0002024	HP:0002570	Steatorrhea	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0002024	HP:0002570	Steatorrhea	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0002024	HP:0002570	Steatorrhea	2	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002024	HP:0002570	Steatorrhea	2	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0002024	HP:0002570	Steatorrhea	2	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0002024	HP:0002570	Steatorrhea	2	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial	.	149