Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal stomach morphology (HP:0002577)

Parent Node:
Abnormality of the pylorus (HP:0004400)

..Starting node
..Pyloric stenosis (HP:0002021)

Term ID:

2021

Name:

Pyloric stenosis

Synonym:

Infantile hypertrophic pyloric stenosis; Pylorus stenosis

Definition:

Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.

Comments:

Reference:

HP:0002021

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital pyloric atresia (HP:0004399)

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

Genes (104) :ADAMTS3 ARF1 ARFGEF2 BCOR BCR BIN1 BRD4 CASZ1 CAVIN1 CCBE1 COL18A1 CRKL CYBA CYBB CYBC1 DHCR7 DHODH DLK1 DNM2 DYRK1A EFEMP2 ERMARD FAT4 FBLN5 FGFR2 FIG4 FLI1 FLNA GABRD GTF2H5 HDAC4 HDAC8 HNF1B HRAS HSPG2 KANSL1 KCNAB2 LAMA3 LAMB3 LAMC2 LTBP1 LTBP4 LUZP1 MAP1B MAP3K7 MAPK1 MED12 MEG3 MMP23B MTM1 MTMR14 MYF6 NAA10 NCF1 NCF2 NCF4 NEDD4L NEFH NEK9 NFIX NFKB2 NIPBL NPHS1 OTC PAK2 PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PPP2R3C PPP2R5D PRDM16 PRKCZ PYCR1 RAD21 RERE RTL1 RYR1 SERPINH1 SH2B1 SKI SLC2A10 SMC1A SMC3 SPEN SYT2 TBX3 TFAP2A TMTC3 UBE4B VAC14 ZEB2 ZNF699

Diseases (59) :ORPHA:2136 ORPHA:98892 OMIM:309800 ORPHA:261330 ORPHA:169189 ORPHA:199 ORPHA:1606 OMIM:613327 ORPHA:1571 OMIM:267750 ORPHA:379 OMIM:270400 ORPHA:818 OMIM:263750 ORPHA:96184 ORPHA:268261 ORPHA:90349 OMIM:101200 ORPHA:3472 OMIM:216340 ORPHA:2308 OMIM:300048 OMIM:616395 ORPHA:1001 ORPHA:93111 OMIM:218040 OMIM:610443 OMIM:226700 OMIM:613177 OMIM:617137 ORPHA:93932 OMIM:305450 OMIM:310400 OMIM:616924 OMIM:614262 OMIM:602535 OMIM:615577 OMIM:122470 OMIM:256300 ORPHA:664 OMIM:618458 ORPHA:912 ORPHA:2461 OMIM:248700 OMIM:618419 ORPHA:457279 OMIM:616355 OMIM:614438 OMIM:613848 ORPHA:261197 ORPHA:3342 OMIM:619461 ORPHA:3138 OMIM:181450 OMIM:113620 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:619488

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

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