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:0002566	HP:0002566	Intestinal malrotation	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	HP:0040284 - Very rare	51
HP:0002566	HP:0002566	Intestinal malrotation	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome	.	94
HP:0002566	HP:0002566	Intestinal malrotation	0	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent	23
HP:0002566	HP:0002566	Intestinal malrotation	0	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0002566	HP:0002566	Intestinal malrotation	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare	68
HP:0002566	HP:0002566	Intestinal malrotation	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0002566	HP:0002566	Intestinal malrotation	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0002566	HP:0002566	Intestinal malrotation	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0002566	HP:0002566	Intestinal malrotation	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0002566	HP:0002566	Intestinal malrotation	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0002566	HP:0002566	Intestinal malrotation	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional	101
HP:0002566	HP:0002566	Intestinal malrotation	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0002566	HP:0002566	Intestinal malrotation	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0002566	HP:0002566	Intestinal malrotation	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	36
HP:0002566	HP:0002566	Intestinal malrotation	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0002566	HP:0002566	Intestinal malrotation	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	126
HP:0002566	HP:0002566	Intestinal malrotation	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	182
HP:0002566	HP:0002566	Intestinal malrotation	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0002566	HP:0002566	Intestinal malrotation	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0002566	HP:0002566	Intestinal malrotation	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0002566	HP:0002566	Intestinal malrotation	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002566	HP:0002566	Intestinal malrotation	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002566	HP:0002566	Intestinal malrotation	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002566	HP:0002566	Intestinal malrotation	0	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0002566	HP:0002566	Intestinal malrotation	0	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.	13
HP:0002566	HP:0002566	Intestinal malrotation	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional	4
HP:0002566	HP:0002566	Intestinal malrotation	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0002566	HP:0002566	Intestinal malrotation	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0002566	HP:0002566	Intestinal malrotation	0	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome	HP:0040282 - Frequent	7
HP:0002566	HP:0002566	Intestinal malrotation	0	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome	.	7
HP:0002566	HP:0002566	Intestinal malrotation	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0002566	HP:0002566	Intestinal malrotation	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0002566	HP:0002566	Intestinal malrotation	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare	291
HP:0002566	HP:0002566	Intestinal malrotation	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare	291
HP:0002566	HP:0002566	Intestinal malrotation	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0002566	HP:0002566	Intestinal malrotation	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional	72
HP:0002566	HP:0002566	Intestinal malrotation	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.	159
HP:0002566	HP:0002566	Intestinal malrotation	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0002566	HP:0002566	Intestinal malrotation	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	116
HP:0002566	HP:0002566	Intestinal malrotation	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002566	HP:0002566	Intestinal malrotation	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	78
HP:0002566	HP:0002566	Intestinal malrotation	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	63
HP:0002566	HP:0002566	Intestinal malrotation	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	27
HP:0002566	HP:0002566	Intestinal malrotation	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	62
HP:0002566	HP:0002566	Intestinal malrotation	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002566	HP:0002566	Intestinal malrotation	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0002566	HP:0002566	Intestinal malrotation	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	542
HP:0002566	HP:0002566	Intestinal malrotation	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	527
HP:0002566	HP:0002566	Intestinal malrotation	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	18
HP:0002566	HP:0002566	Intestinal malrotation	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	73
HP:0002566	HP:0002566	Intestinal malrotation	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	104
HP:0002566	HP:0002566	Intestinal malrotation	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	2
HP:0002566	HP:0002566	Intestinal malrotation	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	167
HP:0002566	HP:0002566	Intestinal malrotation	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	44
HP:0002566	HP:0002566	Intestinal malrotation	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0002566	HP:0002566	Intestinal malrotation	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0002566	HP:0002566	Intestinal malrotation	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	HP:0040284 - Very rare	250
HP:0002566	HP:0002566	Intestinal malrotation	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare	250
HP:0002566	HP:0002566	Intestinal malrotation	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive	.	12
HP:0002566	HP:0002566	Intestinal malrotation	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0002566	HP:0002566	Intestinal malrotation	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002566	HP:0002566	Intestinal malrotation	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040283 - Occasional	655
HP:0002566	HP:0002566	Intestinal malrotation	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040283 - Occasional	175
HP:0002566	HP:0002566	Intestinal malrotation	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040283 - Occasional	175
HP:0002566	HP:0002566	Intestinal malrotation	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0002566	HP:0002566	Intestinal malrotation	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0002566	HP:0002566	Intestinal malrotation	0	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome	HP:0040282 - Frequent	493
HP:0002566	HP:0002566	Intestinal malrotation	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	.	493
HP:0002566	HP:0002566	Intestinal malrotation	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I		233
HP:0002566	HP:0002566	Intestinal malrotation	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0002566	HP:0002566	Intestinal malrotation	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040282 - Frequent	61
HP:0002566	HP:0002566	Intestinal malrotation	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002566	HP:0002566	Intestinal malrotation	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	1
HP:0002566	HP:0002566	Intestinal malrotation	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	9
HP:0002566	HP:0002566	Intestinal malrotation	0	GATA6 CL E G H	2627	4174	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent	37
HP:0002566	HP:0002566	Intestinal malrotation	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0002566	HP:0002566	Intestinal malrotation	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare	37
HP:0002566	HP:0002566	Intestinal malrotation	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0002566	HP:0002566	Intestinal malrotation	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0002566	HP:0002566	Intestinal malrotation	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002566	HP:0002566	Intestinal malrotation	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	37
HP:0002566	HP:0002566	Intestinal malrotation	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0002566	HP:0002566	Intestinal malrotation	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0002566	HP:0002566	Intestinal malrotation	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040283 - Occasional	39
HP:0002566	HP:0002566	Intestinal malrotation	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0002566	HP:0002566	Intestinal malrotation	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0002566	HP:0002566	Intestinal malrotation	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002566	HP:0002566	Intestinal malrotation	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040283 - Occasional	2
HP:0002566	HP:0002566	Intestinal malrotation	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0002566	HP:0002566	Intestinal malrotation	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0002566	HP:0002566	Intestinal malrotation	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040283 - Occasional	34
HP:0002566	HP:0002566	Intestinal malrotation	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0002566	HP:0002566	Intestinal malrotation	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0002566	HP:0002566	Intestinal malrotation	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	68
HP:0002566	HP:0002566	Intestinal malrotation	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0002566	HP:0002566	Intestinal malrotation	0	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent
HP:0002566	HP:0002566	Intestinal malrotation	0	LONP1 CL E G H	9361	9479	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent	8
HP:0002566	HP:0002566	Intestinal malrotation	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0002566	HP:0002566	Intestinal malrotation	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040283 - Occasional	289
HP:0002566	HP:0002566	Intestinal malrotation	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002566	HP:0002566	Intestinal malrotation	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	13
HP:0002566	HP:0002566	Intestinal malrotation	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0002566	HP:0002566	Intestinal malrotation	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0002566	HP:0002566	Intestinal malrotation	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0002566	HP:0002566	Intestinal malrotation	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0002566	HP:0002566	Intestinal malrotation	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal	.	3
HP:0002566	HP:0002566	Intestinal malrotation	0	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent	418
HP:0002566	HP:0002566	Intestinal malrotation	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0002566	HP:0002566	Intestinal malrotation	0	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent	326
HP:0002566	HP:0002566	Intestinal malrotation	0	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310		326
HP:0002566	HP:0002566	Intestinal malrotation	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2
HP:0002566	HP:0002566	Intestinal malrotation	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional	101
HP:0002566	HP:0002566	Intestinal malrotation	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002566	HP:0002566	Intestinal malrotation	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	494
HP:0002566	HP:0002566	Intestinal malrotation	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0002566	HP:0002566	Intestinal malrotation	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	50
HP:0002566	HP:0002566	Intestinal malrotation	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0002566	HP:0002566	Intestinal malrotation	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0002566	HP:0002566	Intestinal malrotation	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0002566	HP:0002566	Intestinal malrotation	0	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome	HP:0040282 - Frequent	157
HP:0002566	HP:0002566	Intestinal malrotation	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.	157
HP:0002566	HP:0002566	Intestinal malrotation	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0002566	HP:0002566	Intestinal malrotation	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002566	HP:0002566	Intestinal malrotation	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002566	HP:0002566	Intestinal malrotation	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002566	HP:0002566	Intestinal malrotation	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002566	HP:0002566	Intestinal malrotation	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	201
HP:0002566	HP:0002566	Intestinal malrotation	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional	11
HP:0002566	HP:0002566	Intestinal malrotation	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0002566	HP:0002566	Intestinal malrotation	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0002566	HP:0002566	Intestinal malrotation	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	25
HP:0002566	HP:0002566	Intestinal malrotation	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0002566	HP:0002566	Intestinal malrotation	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0002566	HP:0002566	Intestinal malrotation	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	200
HP:0002566	HP:0002566	Intestinal malrotation	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002566	HP:0002566	Intestinal malrotation	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	31
HP:0002566	HP:0002566	Intestinal malrotation	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	5
HP:0002566	HP:0002566	Intestinal malrotation	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	58
HP:0002566	HP:0002566	Intestinal malrotation	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0002566	HP:0002566	Intestinal malrotation	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.	86
HP:0002566	HP:0002566	Intestinal malrotation	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002566	HP:0002566	Intestinal malrotation	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0002566	HP:0002566	Intestinal malrotation	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0002566	HP:0002566	Intestinal malrotation	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0002566	HP:0002566	Intestinal malrotation	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0002566	HP:0002566	Intestinal malrotation	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	135
HP:0002566	HP:0002566	Intestinal malrotation	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	91
HP:0002566	HP:0002566	Intestinal malrotation	0	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome	HP:0040283 - Occasional	22
HP:0002566	HP:0002566	Intestinal malrotation	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	HP:0040283 - Occasional	22
HP:0002566	HP:0002566	Intestinal malrotation	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	45
HP:0002566	HP:0002566	Intestinal malrotation	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	15
HP:0002566	HP:0002566	Intestinal malrotation	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	HP:0040283 - Occasional	6
HP:0002566	HP:0002566	Intestinal malrotation	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	3
HP:0002566	HP:0002566	Intestinal malrotation	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0002566	HP:0002566	Intestinal malrotation	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0002566	HP:0002566	Intestinal malrotation	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0002566	HP:0002566	Intestinal malrotation	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0002566	HP:0002566	Intestinal malrotation	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040283 - Occasional	140
HP:0002566	HP:0002566	Intestinal malrotation	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002566	HP:0002566	Intestinal malrotation	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional	26
HP:0002566	HP:0002566	Intestinal malrotation	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	HP:0040283 - Occasional	26
HP:0002566	HP:0002566	Intestinal malrotation	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.	13
HP:0002566	HP:0002566	Intestinal malrotation	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002566	HP:0002566	Intestinal malrotation	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0002566	HP:0002566	Intestinal malrotation	0	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome		4
HP:0002566	HP:0002566	Intestinal malrotation	0	ZFPM2 CL E G H	23414	16700	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent	31
HP:0002566	HP:0002566	Intestinal malrotation	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0002566	HP:0002566	Intestinal malrotation	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0002566	HP:0004794	Malrotation of small bowel	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040284 - Very rare	27
HP:0002566	HP:0004794	Malrotation of small bowel	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0002566	HP:0004794	Malrotation of small bowel	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0002566	HP:0005211	Midgut malrotation	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0002566	HP:0004794	Malrotation of small bowel	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040284 - Very rare	13
HP:0002566	HP:0004794	Malrotation of small bowel	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0002566	HP:0004785	Malrotation of colon	1	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional	233
HP:0002566	HP:0004794	Malrotation of small bowel	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0002566	HP:0004785	Malrotation of colon	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0002566	HP:0004785	Malrotation of colon	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0002566	HP:0004794	Malrotation of small bowel	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0002566	HP:0005211	Midgut malrotation	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0002566	HP:0004785	Malrotation of colon	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0002566	HP:0004794	Malrotation of small bowel	1	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome	HP:0040282 - Frequent	4