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:0004400	HP:0004400	Abnormality of the pylorus	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0004400	HP:0004400	Abnormality of the pylorus	0	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia
HP:0004400	HP:0004400	Abnormality of the pylorus	0	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia		179
HP:0004400	HP:0004400	Abnormality of the pylorus	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0004400	HP:0004400	Abnormality of the pylorus	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0004400	HP:0004400	Abnormality of the pylorus	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0004400	HP:0004400	Abnormality of the pylorus	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0004400	HP:0004400	Abnormality of the pylorus	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0004400	HP:0004400	Abnormality of the pylorus	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0004400	HP:0004400	Abnormality of the pylorus	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0004400	HP:0004400	Abnormality of the pylorus	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome		177
HP:0004400	HP:0004400	Abnormality of the pylorus	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0004400	HP:0004400	Abnormality of the pylorus	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0004400	HP:0004400	Abnormality of the pylorus	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease		27
HP:0004400	HP:0004400	Abnormality of the pylorus	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease		111
HP:0004400	HP:0004400	Abnormality of the pylorus	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0004400	HP:0004400	Abnormality of the pylorus	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0004400	HP:0004400	Abnormality of the pylorus	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0004400	HP:0004400	Abnormality of the pylorus	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0004400	HP:0004400	Abnormality of the pylorus	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0004400	HP:0004400	Abnormality of the pylorus	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0004400	HP:0004400	Abnormality of the pylorus	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0004400	HP:0004400	Abnormality of the pylorus	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0004400	HP:0004400	Abnormality of the pylorus	0	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia		36
HP:0004400	HP:0004400	Abnormality of the pylorus	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0004400	HP:0004400	Abnormality of the pylorus	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0004400	HP:0004400	Abnormality of the pylorus	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0004400	HP:0004400	Abnormality of the pylorus	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0004400	HP:0004400	Abnormality of the pylorus	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0004400	HP:0004400	Abnormality of the pylorus	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0004400	HP:0004400	Abnormality of the pylorus	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked		493
HP:0004400	HP:0004400	Abnormality of the pylorus	0	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia		493
HP:0004400	HP:0004400	Abnormality of the pylorus	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0004400	HP:0004400	Abnormality of the pylorus	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0004400	HP:0004400	Abnormality of the pylorus	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0004400	HP:0004400	Abnormality of the pylorus	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0004400	HP:0004400	Abnormality of the pylorus	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease		90
HP:0004400	HP:0004400	Abnormality of the pylorus	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0004400	HP:0004400	Abnormality of the pylorus	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0004400	HP:0004400	Abnormality of the pylorus	0	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0004400	HP:0004400	Abnormality of the pylorus	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0004400	HP:0004400	Abnormality of the pylorus	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0004400	HP:0004400	Abnormality of the pylorus	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0004400	HP:0004400	Abnormality of the pylorus	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0004400	HP:0004400	Abnormality of the pylorus	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0004400	HP:0004400	Abnormality of the pylorus	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0004400	HP:0004400	Abnormality of the pylorus	0	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		116
HP:0004400	HP:0004400	Abnormality of the pylorus	0	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		167
HP:0004400	HP:0004400	Abnormality of the pylorus	0	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		135
HP:0004400	HP:0004400	Abnormality of the pylorus	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0004400	HP:0004400	Abnormality of the pylorus	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0004400	HP:0004400	Abnormality of the pylorus	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0004400	HP:0004400	Abnormality of the pylorus	0	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia
HP:0004400	HP:0004400	Abnormality of the pylorus	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0004400	HP:0004400	Abnormality of the pylorus	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0004400	HP:0004400	Abnormality of the pylorus	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0004400	HP:0004400	Abnormality of the pylorus	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0004400	HP:0004400	Abnormality of the pylorus	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0004400	HP:0004400	Abnormality of the pylorus	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0004400	HP:0004400	Abnormality of the pylorus	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0004400	HP:0004400	Abnormality of the pylorus	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0004400	HP:0004400	Abnormality of the pylorus	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0004400	HP:0004400	Abnormality of the pylorus	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0004400	HP:0004400	Abnormality of the pylorus	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease		13
HP:0004400	HP:0004400	Abnormality of the pylorus	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease		67
HP:0004400	HP:0004400	Abnormality of the pylorus	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease		37
HP:0004400	HP:0004400	Abnormality of the pylorus	0	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia		30
HP:0004400	HP:0004400	Abnormality of the pylorus	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0004400	HP:0004400	Abnormality of the pylorus	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy		9
HP:0004400	HP:0004400	Abnormality of the pylorus	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0004400	HP:0004400	Abnormality of the pylorus	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0004400	HP:0004400	Abnormality of the pylorus	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0004400	HP:0004400	Abnormality of the pylorus	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0004400	HP:0004400	Abnormality of the pylorus	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1		241
HP:0004400	HP:0004400	Abnormality of the pylorus	0	OTC CL E G H	5009	8512	ORPHA:664	Ornithine transcarbamylase deficiency		369
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35		10
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0004400	HP:0004400	Abnormality of the pylorus	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0004400	HP:0004400	Abnormality of the pylorus	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0004400	HP:0004400	Abnormality of the pylorus	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0004400	HP:0004400	Abnormality of the pylorus	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0004400	HP:0004400	Abnormality of the pylorus	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0004400	HP:0004400	Abnormality of the pylorus	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X		52
HP:0004400	HP:0004400	Abnormality of the pylorus	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0004400	HP:0004400	Abnormality of the pylorus	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0004400	HP:0004400	Abnormality of the pylorus	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0004400	HP:0004400	Abnormality of the pylorus	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0004400	HP:0004400	Abnormality of the pylorus	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0004400	HP:0004400	Abnormality of the pylorus	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0004400	HP:0004400	Abnormality of the pylorus	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0004400	HP:0004400	Abnormality of the pylorus	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0004400	HP:0004400	Abnormality of the pylorus	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0004400	HP:0004400	Abnormality of the pylorus	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0004400	HP:0004400	Abnormality of the pylorus	0	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia		5
HP:0004400	HP:0004400	Abnormality of the pylorus	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0004400	HP:0004400	Abnormality of the pylorus	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0004400	HP:0004400	Abnormality of the pylorus	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0004400	HP:0004400	Abnormality of the pylorus	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0004400	HP:0004400	Abnormality of the pylorus	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0004400	HP:0004400	Abnormality of the pylorus	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0004400	HP:0002021	Pyloric stenosis	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	1
HP:0004400	HP:0002021	Pyloric stenosis	1	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent
HP:0004400	HP:0002021	Pyloric stenosis	1	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent	179
HP:0004400	HP:0002021	Pyloric stenosis	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0004400	HP:0002021	Pyloric stenosis	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0004400	HP:0002021	Pyloric stenosis	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	99
HP:0004400	HP:0002021	Pyloric stenosis	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0004400	HP:0002021	Pyloric stenosis	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0004400	HP:0002021	Pyloric stenosis	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0004400	HP:0002021	Pyloric stenosis	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	147
HP:0004400	HP:0002021	Pyloric stenosis	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional	177
HP:0004400	HP:0002021	Pyloric stenosis	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0004400	HP:0002021	Pyloric stenosis	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0004400	HP:0002021	Pyloric stenosis	1	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	27
HP:0004400	HP:0002021	Pyloric stenosis	1	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	111
HP:0004400	HP:0002021	Pyloric stenosis	1	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0004400	HP:0002021	Pyloric stenosis	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0004400	HP:0002021	Pyloric stenosis	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0004400	HP:0002021	Pyloric stenosis	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0004400	HP:0002021	Pyloric stenosis	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0004400	HP:0002021	Pyloric stenosis	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	167
HP:0004400	HP:0002021	Pyloric stenosis	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0004400	HP:0002021	Pyloric stenosis	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	45
HP:0004400	HP:0002021	Pyloric stenosis	1	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent	36
HP:0004400	HP:0002021	Pyloric stenosis	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	114
HP:0004400	HP:0002021	Pyloric stenosis	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	63
HP:0004400	HP:0002021	Pyloric stenosis	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0004400	HP:0002021	Pyloric stenosis	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0004400	HP:0002021	Pyloric stenosis	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0004400	HP:0002021	Pyloric stenosis	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0004400	HP:0002021	Pyloric stenosis	1	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	HP:0040283 - Occasional	493
HP:0004400	HP:0002021	Pyloric stenosis	1	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent	493
HP:0004400	HP:0002021	Pyloric stenosis	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0004400	HP:0002021	Pyloric stenosis	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0004400	HP:0002021	Pyloric stenosis	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040283 - Occasional	33
HP:0004400	HP:0002021	Pyloric stenosis	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	37
HP:0004400	HP:0002021	Pyloric stenosis	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0004400	HP:0002021	Pyloric stenosis	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0004400	HP:0002021	Pyloric stenosis	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0004400	HP:0004399	Congenital pyloric atresia	1	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0004400	HP:0004399	Congenital pyloric atresia	1	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040281 - Very frequent	79
HP:0004400	HP:0004399	Congenital pyloric atresia	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	124
HP:0004400	HP:0004399	Congenital pyloric atresia	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0004400	HP:0004399	Congenital pyloric atresia	1	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040281 - Very frequent	124
HP:0004400	HP:0002021	Pyloric stenosis	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0004400	HP:0002021	Pyloric stenosis	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0004400	HP:0002021	Pyloric stenosis	1	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	116
HP:0004400	HP:0002021	Pyloric stenosis	1	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	167
HP:0004400	HP:0002021	Pyloric stenosis	1	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	135
HP:0004400	HP:0002021	Pyloric stenosis	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0004400	HP:0002021	Pyloric stenosis	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0004400	HP:0002021	Pyloric stenosis	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0004400	HP:0002021	Pyloric stenosis	1	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent
HP:0004400	HP:0002021	Pyloric stenosis	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional	11
HP:0004400	HP:0002021	Pyloric stenosis	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0004400	HP:0002021	Pyloric stenosis	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0004400	HP:0002021	Pyloric stenosis	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0004400	HP:0002021	Pyloric stenosis	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0004400	HP:0002021	Pyloric stenosis	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0004400	HP:0002021	Pyloric stenosis	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.	185
HP:0004400	HP:0002021	Pyloric stenosis	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	7
HP:0004400	HP:0002021	Pyloric stenosis	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	19
HP:0004400	HP:0002021	Pyloric stenosis	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0004400	HP:0002021	Pyloric stenosis	1	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	13
HP:0004400	HP:0002021	Pyloric stenosis	1	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	67
HP:0004400	HP:0002021	Pyloric stenosis	1	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	37
HP:0004400	HP:0002021	Pyloric stenosis	1	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent	30
HP:0004400	HP:0002021	Pyloric stenosis	1	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0004400	HP:0002021	Pyloric stenosis	1	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	.	9
HP:0004400	HP:0002021	Pyloric stenosis	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0004400	HP:0002021	Pyloric stenosis	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0004400	HP:0002021	Pyloric stenosis	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	494
HP:0004400	HP:0002021	Pyloric stenosis	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0004400	HP:0002021	Pyloric stenosis	1	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.	241
HP:0004400	HP:0002021	Pyloric stenosis	1	OTC CL E G H	5009	8512	ORPHA:664	Ornithine transcarbamylase deficiency	HP:0040281 - Very frequent	369
HP:0004400	HP:0002021	Pyloric stenosis	1	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0004400	HP:0002021	Pyloric stenosis	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0004400	HP:0002021	Pyloric stenosis	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0004400	HP:0002021	Pyloric stenosis	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	169
HP:0004400	HP:0002021	Pyloric stenosis	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	75
HP:0004400	HP:0002021	Pyloric stenosis	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	4
HP:0004400	HP:0002021	Pyloric stenosis	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	65
HP:0004400	HP:0002021	Pyloric stenosis	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	66
HP:0004400	HP:0002021	Pyloric stenosis	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	46
HP:0004400	HP:0002021	Pyloric stenosis	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	59
HP:0004400	HP:0002021	Pyloric stenosis	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	62
HP:0004400	HP:0002021	Pyloric stenosis	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	82
HP:0004400	HP:0002021	Pyloric stenosis	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	106
HP:0004400	HP:0002021	Pyloric stenosis	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	47
HP:0004400	HP:0002021	Pyloric stenosis	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	99
HP:0004400	HP:0002021	Pyloric stenosis	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	98
HP:0004400	HP:0002021	Pyloric stenosis	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0004400	HP:0002021	Pyloric stenosis	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0004400	HP:0004399	Congenital pyloric atresia	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	759
HP:0004400	HP:0004399	Congenital pyloric atresia	1	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0004400	HP:0004399	Congenital pyloric atresia	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0004400	HP:0002021	Pyloric stenosis	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0004400	HP:0002021	Pyloric stenosis	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0004400	HP:0002021	Pyloric stenosis	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.	10
HP:0004400	HP:0002021	Pyloric stenosis	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0004400	HP:0002021	Pyloric stenosis	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0004400	HP:0002021	Pyloric stenosis	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0004400	HP:0002021	Pyloric stenosis	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	25
HP:0004400	HP:0002021	Pyloric stenosis	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0004400	HP:0002021	Pyloric stenosis	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0004400	HP:0002021	Pyloric stenosis	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0004400	HP:0002021	Pyloric stenosis	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0004400	HP:0002021	Pyloric stenosis	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040284 - Very rare
HP:0004400	HP:0002021	Pyloric stenosis	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0004400	HP:0002021	Pyloric stenosis	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0004400	HP:0002021	Pyloric stenosis	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	135
HP:0004400	HP:0002021	Pyloric stenosis	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	91
HP:0004400	HP:0002021	Pyloric stenosis	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0004400	HP:0002021	Pyloric stenosis	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0004400	HP:0002021	Pyloric stenosis	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0004400	HP:0002021	Pyloric stenosis	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0004400	HP:0002021	Pyloric stenosis	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0004400	HP:0002021	Pyloric stenosis	1	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent	5
HP:0004400	HP:0002021	Pyloric stenosis	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0004400	HP:0002021	Pyloric stenosis	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6
HP:0004400	HP:0002021	Pyloric stenosis	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0004400	HP:0002021	Pyloric stenosis	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0004400	HP:0002021	Pyloric stenosis	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0004400	HP:0002021	Pyloric stenosis	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS