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:0002246	HP:0002246	Abnormal duodenum morphology	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1		23
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly		200
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly		22
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly		3
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly		655
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly		17
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly		172
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly		48
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly		2
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly		173
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1		35
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly		45
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly		665
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome		25
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome		9
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040284 - Very rare	16
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome		28
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly		67
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly		32
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome		71
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly		124
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly		1
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly		32
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	TTC7A CL E G H	57217	19750	ORPHA:2300	Multiple intestinal atresia		26
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome		5
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly		34
HP:0002246	HP:0002246	Abnormal duodenum morphology	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0002246	HP:0033116	Duodenal gastric metaplasia	1	CL E G H
HP:0002246	HP:0012414	Duodenal atrophy	1	CL E G H
HP:0002246	HP:0030996	Megaduodenum	1	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1		23
HP:0002246	HP:0033117	Duodenitis	1	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0002246	HP:0002588	Duodenal ulcer	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0002246	HP:0100867	Duodenal stenosis	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0002246	HP:0100867	Duodenal stenosis	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0002246	HP:0100867	Duodenal stenosis	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0002246	HP:0002247	Duodenal atresia	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0002246	HP:0002247	Duodenal atresia	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0002246	HP:0002247	Duodenal atresia	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0002246	HP:0002247	Duodenal atresia	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0002246	HP:0002247	Duodenal atresia	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0002246	HP:0033117	Duodenitis	1	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0002246	HP:0100867	Duodenal stenosis	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0002246	HP:0002588	Duodenal ulcer	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0002246	HP:0002588	Duodenal ulcer	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0002246	HP:0002588	Duodenal ulcer	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0002246	HP:0002588	Duodenal ulcer	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0002246	HP:0002247	Duodenal atresia	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0002246	HP:0002247	Duodenal atresia	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0002246	HP:0002247	Duodenal atresia	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0002246	HP:0002247	Duodenal atresia	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0002246	HP:0002247	Duodenal atresia	1	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0002246	HP:0002247	Duodenal atresia	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0002246	HP:0002247	Duodenal atresia	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0002246	HP:0002247	Duodenal atresia	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0002246	HP:0002247	Duodenal atresia	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare	134
HP:0002246	HP:0002588	Duodenal ulcer	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0002246	HP:0100867	Duodenal stenosis	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0002246	HP:0100867	Duodenal stenosis	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0002246	HP:0100867	Duodenal stenosis	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0002246	HP:0002247	Duodenal atresia	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0002246	HP:0100867	Duodenal stenosis	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0002246	HP:0100867	Duodenal stenosis	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0002246	HP:0100867	Duodenal stenosis	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0002246	HP:0100867	Duodenal stenosis	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0002246	HP:0002247	Duodenal atresia	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0002246	HP:0100867	Duodenal stenosis	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0002246	HP:0100867	Duodenal stenosis	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0002246	HP:0100867	Duodenal stenosis	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0002246	HP:0100867	Duodenal stenosis	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0002246	HP:0002247	Duodenal atresia	1	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040283 - Occasional	655
HP:0002246	HP:0002247	Duodenal atresia	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0002246	HP:0002247	Duodenal atresia	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0002246	HP:0002247	Duodenal atresia	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0002246	HP:0002247	Duodenal atresia	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0002246	HP:0100867	Duodenal stenosis	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0002246	HP:0002247	Duodenal atresia	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0002246	HP:0002247	Duodenal atresia	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0002246	HP:0100867	Duodenal stenosis	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0002246	HP:0002247	Duodenal atresia	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0002246	HP:0033117	Duodenitis	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002246	HP:0002247	Duodenal atresia	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0002246	HP:0100867	Duodenal stenosis	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0002246	HP:0002588	Duodenal ulcer	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0002246	HP:0002247	Duodenal atresia	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0002246	HP:0002247	Duodenal atresia	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional	35
HP:0002246	HP:0030996	Megaduodenum	1	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0002246	HP:0002247	Duodenal atresia	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0002246	HP:0002247	Duodenal atresia	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0002246	HP:0100867	Duodenal stenosis	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0002246	HP:0002247	Duodenal atresia	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0002246	HP:0002588	Duodenal ulcer	1	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0002246	HP:0002588	Duodenal ulcer	1	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040283 - Occasional	11
HP:0002246	HP:0002588	Duodenal ulcer	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0002246	HP:0002247	Duodenal atresia	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0002246	HP:0002247	Duodenal atresia	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0002246	HP:0030996	Megaduodenum	1	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome	.	25
HP:0002246	HP:0100867	Duodenal stenosis	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0002246	HP:0100867	Duodenal stenosis	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0002246	HP:0100867	Duodenal stenosis	1	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	9
HP:0002246	HP:0002247	Duodenal atresia	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0002246	HP:0100867	Duodenal stenosis	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0002246	HP:0002247	Duodenal atresia	1	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0002246	HP:0002247	Duodenal atresia	1	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0002246	HP:0002247	Duodenal atresia	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0002246	HP:0002247	Duodenal atresia	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0002246	HP:0002247	Duodenal atresia	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0002246	HP:0002247	Duodenal atresia	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0002246	HP:0100867	Duodenal stenosis	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0002246	HP:0002247	Duodenal atresia	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0002246	HP:0100867	Duodenal stenosis	1	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	71
HP:0002246	HP:0002247	Duodenal atresia	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0002246	HP:0002588	Duodenal ulcer	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002246	HP:0002247	Duodenal atresia	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0002246	HP:0002247	Duodenal atresia	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0002246	HP:0002247	Duodenal atresia	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0002246	HP:0002247	Duodenal atresia	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0002246	HP:0100867	Duodenal stenosis	1	TTC7A CL E G H	57217	19750	ORPHA:2300	Multiple intestinal atresia	HP:0040281 - Very frequent	26
HP:0002246	HP:0100867	Duodenal stenosis	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0002246	HP:0002247	Duodenal atresia	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0002246	HP:0100867	Duodenal stenosis	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0002246	HP:0002588	Duodenal ulcer	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome		5
HP:0002246	HP:0002247	Duodenal atresia	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34
HP:0002246	HP:0002247	Duodenal atresia	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39