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:0004298	HP:0004298	Abnormality of the abdominal wall	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus		245
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		23
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria		76
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	AMH CL E G H	268	464	ORPHA:2856	Persistent Müllerian duct syndrome		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	AMHR2 CL E G H	269	465	ORPHA:2856	Persistent Müllerian duct syndrome		8
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II		8
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome		13
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent	3179
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome		125
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias		125
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome		166
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	5
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome		4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII		49
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2		7
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	165
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome		45
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement		42
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		373
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		243
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form		243
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent	88
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2		13
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism		121
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB		45
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation		62
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus		58
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA		63
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly		172
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia		172
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1		172
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome		493
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia		233
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly		198
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome		198
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome		270
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia		63
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1		63
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia		46
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia		18
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1		18
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures		274
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7		54
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia		4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication		4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.	345
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip		99
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus		127
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma		100
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome		289
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias		5
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis		55
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome		21
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV		78
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome		950
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome		13
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome		7
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		64
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip		12
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly		183
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		418
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		326
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip		4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2		43
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia		90
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome		217
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII		43
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome		231
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome		231
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia		63
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form		37
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		11
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome		43
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2		45
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy		244
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2		58
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome		31
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome		43
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy		126
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy		427
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p		6
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X		52
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome		134
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy		11
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B		166
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB		166
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1		59
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia		81
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome		504
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome		174
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism		3
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis	HP:0040283 - Occasional	19
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome		6
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI		4
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip		140
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy		1
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A		133
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		26
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency		44
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly		2
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome		14
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome		14
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ZEB1 CL E G H	6935	11642	OMIM:609141	Corneal dystrophy, posterior polymorphous, 3		8
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus		30
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0004298	HP:0004298	Abnormality of the abdominal wall	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus		245
HP:0004298	HP:0010866	Abdominal wall defect	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus		245
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0004298	HP:0010866	Abdominal wall defect	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0004298	HP:0010866	Abdominal wall defect	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0004298	HP:0010866	Abdominal wall defect	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0004298	HP:0010866	Abdominal wall defect	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0004298	HP:0010866	Abdominal wall defect	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0004298	HP:0010866	Abdominal wall defect	1	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		23
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		23
HP:0004298	HP:0010866	Abdominal wall defect	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0004298	HP:0010866	Abdominal wall defect	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0004298	HP:0010866	Abdominal wall defect	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0004298	HP:0010866	Abdominal wall defect	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0004298	HP:0010866	Abdominal wall defect	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0004298	HP:0010866	Abdominal wall defect	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0004298	HP:0010866	Abdominal wall defect	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria		76
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria		76
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0004298	HP:0010866	Abdominal wall defect	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0004298	HP:0010866	Abdominal wall defect	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0004298	HP:0010866	Abdominal wall defect	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0004298	HP:0010866	Abdominal wall defect	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0004298	HP:0010866	Abdominal wall defect	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0004298	HP:0004392	Prune belly	1	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0004298	HP:0010866	Abdominal wall defect	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0004298	HP:0010866	Abdominal wall defect	1	AMH CL E G H	268	464	ORPHA:2856	Persistent Müllerian duct syndrome		9
HP:0004298	HP:0010866	Abdominal wall defect	1	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II		9
HP:0004298	HP:0010866	Abdominal wall defect	1	AMHR2 CL E G H	269	465	ORPHA:2856	Persistent Müllerian duct syndrome		8
HP:0004298	HP:0010866	Abdominal wall defect	1	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II		8
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0004298	HP:0010866	Abdominal wall defect	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0004298	HP:0010866	Abdominal wall defect	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0004298	HP:0010866	Abdominal wall defect	1	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome		13
HP:0004298	HP:0010866	Abdominal wall defect	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0004298	HP:0010866	Abdominal wall defect	1	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome		125
HP:0004298	HP:0010866	Abdominal wall defect	1	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias		125
HP:0004298	HP:0010866	Abdominal wall defect	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0004298	HP:0010866	Abdominal wall defect	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0004298	HP:0010866	Abdominal wall defect	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0004298	HP:0010866	Abdominal wall defect	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0004298	HP:0010866	Abdominal wall defect	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0004298	HP:0010866	Abdominal wall defect	1	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome		166
HP:0004298	HP:0010866	Abdominal wall defect	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0004298	HP:0010866	Abdominal wall defect	1	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia
HP:0004298	HP:0010866	Abdominal wall defect	1	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0004298	HP:0010866	Abdominal wall defect	1	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0004298	HP:0010866	Abdominal wall defect	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0004298	HP:0010866	Abdominal wall defect	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0004298	HP:0010866	Abdominal wall defect	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0004298	HP:0010866	Abdominal wall defect	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0004298	HP:0010866	Abdominal wall defect	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0004298	HP:0010866	Abdominal wall defect	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0004298	HP:0010866	Abdominal wall defect	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0004298	HP:0010866	Abdominal wall defect	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0004298	HP:0010866	Abdominal wall defect	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0004298	HP:0010866	Abdominal wall defect	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0004298	HP:0010866	Abdominal wall defect	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0004298	HP:0010866	Abdominal wall defect	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0004298	HP:0010866	Abdominal wall defect	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0004298	HP:0010866	Abdominal wall defect	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0004298	HP:0010866	Abdominal wall defect	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0004298	HP:0010866	Abdominal wall defect	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0004298	HP:0010866	Abdominal wall defect	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0004298	HP:0010866	Abdominal wall defect	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0004298	HP:0010866	Abdominal wall defect	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0004298	HP:0010866	Abdominal wall defect	1	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome		4
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII		49
HP:0004298	HP:0010866	Abdominal wall defect	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII		49
HP:0004298	HP:0010866	Abdominal wall defect	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0004298	HP:0010866	Abdominal wall defect	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0004298	HP:0010866	Abdominal wall defect	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0004298	HP:0010866	Abdominal wall defect	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0004298	HP:0010866	Abdominal wall defect	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0004298	HP:0010866	Abdominal wall defect	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0004298	HP:0010866	Abdominal wall defect	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0004298	HP:0010866	Abdominal wall defect	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0004298	HP:0010866	Abdominal wall defect	1	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2		7
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2		7
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0004298	HP:0010866	Abdominal wall defect	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0004298	HP:0010866	Abdominal wall defect	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0004298	HP:0010866	Abdominal wall defect	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0004298	HP:0010866	Abdominal wall defect	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0004298	HP:0010866	Abdominal wall defect	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0004298	HP:0010866	Abdominal wall defect	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0004298	HP:0010866	Abdominal wall defect	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0004298	HP:0010866	Abdominal wall defect	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0004298	HP:0010866	Abdominal wall defect	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0004298	HP:0010866	Abdominal wall defect	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0004298	HP:0010866	Abdominal wall defect	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0004298	HP:0100548	Exstrophy	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0004298	HP:0010866	Abdominal wall defect	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0004298	HP:0010866	Abdominal wall defect	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0004298	HP:0010866	Abdominal wall defect	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0004298	HP:0010866	Abdominal wall defect	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0004298	HP:0010866	Abdominal wall defect	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0004298	HP:0010866	Abdominal wall defect	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0004298	HP:0010866	Abdominal wall defect	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0004298	HP:0004392	Prune belly	1	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0004298	HP:0010866	Abdominal wall defect	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0004298	HP:0010866	Abdominal wall defect	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0004298	HP:0010866	Abdominal wall defect	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0004298	HP:0010866	Abdominal wall defect	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0004298	HP:0010866	Abdominal wall defect	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0004298	HP:0010866	Abdominal wall defect	1	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome		3
HP:0004298	HP:0010866	Abdominal wall defect	1	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome		45
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement		42
HP:0004298	HP:0010866	Abdominal wall defect	1	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement		42
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0004298	HP:0010866	Abdominal wall defect	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0004298	HP:0010866	Abdominal wall defect	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0004298	HP:0010866	Abdominal wall defect	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		373
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0004298	HP:0010866	Abdominal wall defect	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0004298	HP:0010866	Abdominal wall defect	1	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0004298	HP:0010866	Abdominal wall defect	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		243
HP:0004298	HP:0010866	Abdominal wall defect	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0004298	HP:0010866	Abdominal wall defect	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form		243
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0004298	HP:0010866	Abdominal wall defect	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0004298	HP:0010866	Abdominal wall defect	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0004298	HP:0010866	Abdominal wall defect	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0004298	HP:0010866	Abdominal wall defect	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0004298	HP:0010866	Abdominal wall defect	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0004298	HP:0010866	Abdominal wall defect	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0004298	HP:0010866	Abdominal wall defect	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0004298	HP:0010866	Abdominal wall defect	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0004298	HP:0010866	Abdominal wall defect	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2		9
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0004298	HP:0010866	Abdominal wall defect	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0004298	HP:0010866	Abdominal wall defect	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0004298	HP:0010866	Abdominal wall defect	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0004298	HP:0010866	Abdominal wall defect	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0004298	HP:0010866	Abdominal wall defect	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0004298	HP:0010866	Abdominal wall defect	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0004298	HP:0010866	Abdominal wall defect	1	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis		2
HP:0004298	HP:0010866	Abdominal wall defect	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0004298	HP:0010866	Abdominal wall defect	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0004298	HP:0010866	Abdominal wall defect	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0004298	HP:0010866	Abdominal wall defect	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0004298	HP:0010866	Abdominal wall defect	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004298	HP:0010866	Abdominal wall defect	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0004298	HP:0010866	Abdominal wall defect	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0004298	HP:0010866	Abdominal wall defect	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0004298	HP:0010866	Abdominal wall defect	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0004298	HP:0010866	Abdominal wall defect	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0004298	HP:0010866	Abdominal wall defect	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0004298	HP:0010866	Abdominal wall defect	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0004298	HP:0010866	Abdominal wall defect	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2		13
HP:0004298	HP:0010866	Abdominal wall defect	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0004298	HP:0010866	Abdominal wall defect	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism		121
HP:0004298	HP:0010866	Abdominal wall defect	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism		121
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0004298	HP:0010866	Abdominal wall defect	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0004298	HP:0010866	Abdominal wall defect	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0004298	HP:0010866	Abdominal wall defect	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0004298	HP:0010866	Abdominal wall defect	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0004298	HP:0010866	Abdominal wall defect	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0004298	HP:0010866	Abdominal wall defect	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0004298	HP:0010866	Abdominal wall defect	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0004298	HP:0010866	Abdominal wall defect	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0004298	HP:0010866	Abdominal wall defect	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0004298	HP:0010866	Abdominal wall defect	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0004298	HP:0010866	Abdominal wall defect	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0004298	HP:0010866	Abdominal wall defect	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0004298	HP:0010866	Abdominal wall defect	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0004298	HP:0010866	Abdominal wall defect	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB		45
HP:0004298	HP:0010866	Abdominal wall defect	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0004298	HP:0010866	Abdominal wall defect	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0004298	HP:0010866	Abdominal wall defect	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0004298	HP:0010866	Abdominal wall defect	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous		3
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous		3
HP:0004298	HP:0010866	Abdominal wall defect	1	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous		3
HP:0004298	HP:0010866	Abdominal wall defect	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0004298	HP:0010866	Abdominal wall defect	1	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0004298	HP:0010866	Abdominal wall defect	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0004298	HP:0010866	Abdominal wall defect	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0004298	HP:0010866	Abdominal wall defect	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0004298	HP:0010866	Abdominal wall defect	1	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation		62
HP:0004298	HP:0010866	Abdominal wall defect	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0004298	HP:0010866	Abdominal wall defect	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0004298	HP:0010866	Abdominal wall defect	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0004298	HP:0010866	Abdominal wall defect	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0004298	HP:0010866	Abdominal wall defect	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0004298	HP:0010866	Abdominal wall defect	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0004298	HP:0010866	Abdominal wall defect	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0004298	HP:0010866	Abdominal wall defect	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0004298	HP:0010866	Abdominal wall defect	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0004298	HP:0010866	Abdominal wall defect	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0004298	HP:0010866	Abdominal wall defect	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus		58
HP:0004298	HP:0010866	Abdominal wall defect	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0004298	HP:0010866	Abdominal wall defect	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0004298	HP:0010866	Abdominal wall defect	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0004298	HP:0010866	Abdominal wall defect	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0004298	HP:0010866	Abdominal wall defect	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0004298	HP:0010866	Abdominal wall defect	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0004298	HP:0010866	Abdominal wall defect	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0004298	HP:0010866	Abdominal wall defect	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0004298	HP:0010866	Abdominal wall defect	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0004298	HP:0010866	Abdominal wall defect	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0004298	HP:0010866	Abdominal wall defect	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0004298	HP:0010866	Abdominal wall defect	1	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA		63
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA		63
HP:0004298	HP:0010866	Abdominal wall defect	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0004298	HP:0010866	Abdominal wall defect	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0004298	HP:0010866	Abdominal wall defect	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0004298	HP:0010866	Abdominal wall defect	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0004298	HP:0010866	Abdominal wall defect	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0004298	HP:0010866	Abdominal wall defect	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0004298	HP:0010866	Abdominal wall defect	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0004298	HP:0010866	Abdominal wall defect	1	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly		172
HP:0004298	HP:0010866	Abdominal wall defect	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0004298	HP:0010866	Abdominal wall defect	1	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia		172
HP:0004298	HP:0010866	Abdominal wall defect	1	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1		172
HP:0004298	HP:0010866	Abdominal wall defect	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0004298	HP:0010866	Abdominal wall defect	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0004298	HP:0034361	Redundant umbilical skin	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0004298	HP:0010866	Abdominal wall defect	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0004298	HP:0010866	Abdominal wall defect	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0004298	HP:0010866	Abdominal wall defect	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0004298	HP:0010866	Abdominal wall defect	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0004298	HP:0010866	Abdominal wall defect	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0004298	HP:0010866	Abdominal wall defect	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0004298	HP:0010866	Abdominal wall defect	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome		493
HP:0004298	HP:0010866	Abdominal wall defect	1	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome		493
HP:0004298	HP:0010866	Abdominal wall defect	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia		233
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia		233
HP:0004298	HP:0010866	Abdominal wall defect	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0004298	HP:0010866	Abdominal wall defect	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0004298	HP:0010866	Abdominal wall defect	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004298	HP:0010866	Abdominal wall defect	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004298	HP:0010866	Abdominal wall defect	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0004298	HP:0010866	Abdominal wall defect	1	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly		198
HP:0004298	HP:0010866	Abdominal wall defect	1	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome		198
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0004298	HP:0010866	Abdominal wall defect	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0004298	HP:0010866	Abdominal wall defect	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0004298	HP:0010866	Abdominal wall defect	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0004298	HP:0010866	Abdominal wall defect	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0004298	HP:0010866	Abdominal wall defect	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0004298	HP:0010866	Abdominal wall defect	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0004298	HP:0010866	Abdominal wall defect	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0004298	HP:0010866	Abdominal wall defect	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0004298	HP:0010866	Abdominal wall defect	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0004298	HP:0010866	Abdominal wall defect	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0004298	HP:0010866	Abdominal wall defect	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0004298	HP:0010866	Abdominal wall defect	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0004298	HP:0010866	Abdominal wall defect	1	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome		270
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome		270
HP:0004298	HP:0010866	Abdominal wall defect	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0004298	HP:0010866	Abdominal wall defect	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0004298	HP:0010866	Abdominal wall defect	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia		63
HP:0004298	HP:0010866	Abdominal wall defect	1	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia		63
HP:0004298	HP:0010866	Abdominal wall defect	1	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1		63
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1		63
HP:0004298	HP:0010866	Abdominal wall defect	1	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia		46
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia		46
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0004298	HP:0010866	Abdominal wall defect	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0004298	HP:0010866	Abdominal wall defect	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0004298	HP:0010866	Abdominal wall defect	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004298	HP:0010866	Abdominal wall defect	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0004298	HP:0010866	Abdominal wall defect	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0004298	HP:0010866	Abdominal wall defect	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0004298	HP:0010866	Abdominal wall defect	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0004298	HP:0010866	Abdominal wall defect	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0004298	HP:0010866	Abdominal wall defect	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0004298	HP:0010866	Abdominal wall defect	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004298	HP:0010866	Abdominal wall defect	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0004298	HP:0010866	Abdominal wall defect	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia		18
HP:0004298	HP:0010866	Abdominal wall defect	1	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia		18
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1		18
HP:0004298	HP:0010866	Abdominal wall defect	1	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1		18
HP:0004298	HP:0010866	Abdominal wall defect	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0004298	HP:0010866	Abdominal wall defect	1	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures		274
HP:0004298	HP:0010866	Abdominal wall defect	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0004298	HP:0010866	Abdominal wall defect	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0004298	HP:0010866	Abdominal wall defect	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0004298	HP:0010866	Abdominal wall defect	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0004298	HP:0010866	Abdominal wall defect	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0010866	Abdominal wall defect	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0010866	Abdominal wall defect	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0010866	Abdominal wall defect	1	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7		54
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7		54
HP:0004298	HP:0010866	Abdominal wall defect	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0004298	HP:0010866	Abdominal wall defect	1	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia		4
HP:0004298	HP:0010866	Abdominal wall defect	1	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication		4
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication		4
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		4
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0004298	HP:0010866	Abdominal wall defect	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0004298	HP:0010866	Abdominal wall defect	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0004298	HP:0010866	Abdominal wall defect	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0004298	HP:0010866	Abdominal wall defect	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0004298	HP:0010866	Abdominal wall defect	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0004298	HP:0010866	Abdominal wall defect	1	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0004298	HP:0010866	Abdominal wall defect	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0004298	HP:0010866	Abdominal wall defect	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0004298	HP:0010866	Abdominal wall defect	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0004298	HP:0010866	Abdominal wall defect	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0004298	HP:0010866	Abdominal wall defect	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0004298	HP:0010866	Abdominal wall defect	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0004298	HP:0010866	Abdominal wall defect	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0004298	HP:0010866	Abdominal wall defect	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040283 - Occasional
HP:0004298	HP:0010866	Abdominal wall defect	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0004298	HP:0010866	Abdominal wall defect	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0004298	HP:0010866	Abdominal wall defect	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0004298	HP:0010866	Abdominal wall defect	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0004298	HP:0010866	Abdominal wall defect	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0004298	HP:0010866	Abdominal wall defect	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0004298	HP:0010866	Abdominal wall defect	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0004298	HP:0010866	Abdominal wall defect	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0004298	HP:0010866	Abdominal wall defect	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0004298	HP:0010866	Abdominal wall defect	1	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0004298	HP:0010866	Abdominal wall defect	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0004298	HP:0010866	Abdominal wall defect	1	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia		9
HP:0004298	HP:0010866	Abdominal wall defect	1	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication		9
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication		9
HP:0004298	HP:0010866	Abdominal wall defect	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		9
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0004298	HP:0010866	Abdominal wall defect	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0004298	HP:0010866	Abdominal wall defect	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip		99
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip		99
HP:0004298	HP:0010866	Abdominal wall defect	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0004298	HP:0010866	Abdominal wall defect	1	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0004298	HP:0100548	Exstrophy	1	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0004298	HP:0010866	Abdominal wall defect	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0004298	HP:0010866	Abdominal wall defect	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0004298	HP:0010866	Abdominal wall defect	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0004298	HP:0010866	Abdominal wall defect	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus		127
HP:0004298	HP:0010866	Abdominal wall defect	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus		127
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0004298	HP:0010866	Abdominal wall defect	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0004298	HP:0010866	Abdominal wall defect	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0004298	HP:0010866	Abdominal wall defect	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0004298	HP:0010866	Abdominal wall defect	1	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia		1
HP:0004298	HP:0010866	Abdominal wall defect	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0004298	HP:0010866	Abdominal wall defect	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0004298	HP:0010866	Abdominal wall defect	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0004298	HP:0010866	Abdominal wall defect	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0004298	HP:0010866	Abdominal wall defect	1	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0004298	HP:0010866	Abdominal wall defect	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0004298	HP:0010866	Abdominal wall defect	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome		1
HP:0004298	HP:0010866	Abdominal wall defect	1	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome		1
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0004298	HP:0100548	Exstrophy	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040282 - Frequent	100
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0004298	HP:0010866	Abdominal wall defect	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0004298	HP:0010866	Abdominal wall defect	1	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0004298	HP:0010866	Abdominal wall defect	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0004298	HP:0010866	Abdominal wall defect	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0004298	HP:0010866	Abdominal wall defect	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0004298	HP:0010866	Abdominal wall defect	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0004298	HP:0010866	Abdominal wall defect	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome		289
HP:0004298	HP:0010866	Abdominal wall defect	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome		289
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0004298	HP:0010866	Abdominal wall defect	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0004298	HP:0010866	Abdominal wall defect	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0004298	HP:0010866	Abdominal wall defect	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0004298	HP:0010866	Abdominal wall defect	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0004298	HP:0010866	Abdominal wall defect	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0004298	HP:0010866	Abdominal wall defect	1	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias		5
HP:0004298	HP:0010866	Abdominal wall defect	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0004298	HP:0010866	Abdominal wall defect	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis		55
HP:0004298	HP:0010866	Abdominal wall defect	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0004298	HP:0010866	Abdominal wall defect	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0004298	HP:0010866	Abdominal wall defect	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome		21
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome		21
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome		21
HP:0004298	HP:0010866	Abdominal wall defect	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0004298	HP:0010866	Abdominal wall defect	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0004298	HP:0010866	Abdominal wall defect	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0004298	HP:0010866	Abdominal wall defect	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV		78
HP:0004298	HP:0010866	Abdominal wall defect	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0004298	HP:0010866	Abdominal wall defect	1	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome		950
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0004298	HP:0010866	Abdominal wall defect	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0004298	HP:0100548	Exstrophy	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004298	HP:0010866	Abdominal wall defect	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004298	HP:0010866	Abdominal wall defect	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0004298	HP:0010866	Abdominal wall defect	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0004298	HP:0010866	Abdominal wall defect	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0004298	HP:0010866	Abdominal wall defect	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0004298	HP:0010866	Abdominal wall defect	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0004298	HP:0010866	Abdominal wall defect	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004298	HP:0010866	Abdominal wall defect	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004298	HP:0010866	Abdominal wall defect	1	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome		13
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome		13
HP:0004298	HP:0010866	Abdominal wall defect	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0004298	HP:0010866	Abdominal wall defect	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome		7
HP:0004298	HP:0010866	Abdominal wall defect	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0004298	HP:0010866	Abdominal wall defect	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0010866	Abdominal wall defect	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0004298	HP:0010866	Abdominal wall defect	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0004298	HP:0010866	Abdominal wall defect	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0004298	HP:0010866	Abdominal wall defect	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0010866	Abdominal wall defect	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0010866	Abdominal wall defect	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0004298	HP:0010866	Abdominal wall defect	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		2
HP:0004298	HP:0010866	Abdominal wall defect	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		64
HP:0004298	HP:0010866	Abdominal wall defect	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip		12
HP:0004298	HP:0010866	Abdominal wall defect	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip		12
HP:0004298	HP:0010866	Abdominal wall defect	1	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly		183
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0004298	HP:0010866	Abdominal wall defect	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0004298	HP:0010866	Abdominal wall defect	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		418
HP:0004298	HP:0010866	Abdominal wall defect	1	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		418
HP:0004298	HP:0004392	Prune belly	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0004298	HP:0010866	Abdominal wall defect	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0004298	HP:0010866	Abdominal wall defect	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0004298	HP:0010866	Abdominal wall defect	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0004298	HP:0010866	Abdominal wall defect	1	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		326
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		326
HP:0004298	HP:0010866	Abdominal wall defect	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0004298	HP:0010866	Abdominal wall defect	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0004298	HP:0010866	Abdominal wall defect	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0004298	HP:0010866	Abdominal wall defect	1	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0004298	HP:0010866	Abdominal wall defect	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0004298	HP:0010866	Abdominal wall defect	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0004298	HP:0010866	Abdominal wall defect	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip		4
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip		4
HP:0004298	HP:0010866	Abdominal wall defect	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0004298	HP:0010866	Abdominal wall defect	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0004298	HP:0010866	Abdominal wall defect	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2		43
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2		43
HP:0004298	HP:0010866	Abdominal wall defect	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0004298	HP:0010866	Abdominal wall defect	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0004298	HP:0010866	Abdominal wall defect	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0004298	HP:0010866	Abdominal wall defect	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0004298	HP:0010866	Abdominal wall defect	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0004298	HP:0010866	Abdominal wall defect	1	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia		90
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia		90
HP:0004298	HP:0010866	Abdominal wall defect	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome		217
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0004298	HP:0010866	Abdominal wall defect	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0004298	HP:0010866	Abdominal wall defect	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0004298	HP:0010866	Abdominal wall defect	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0004298	HP:0010866	Abdominal wall defect	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0004298	HP:0010866	Abdominal wall defect	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0004298	HP:0010866	Abdominal wall defect	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0004298	HP:0010866	Abdominal wall defect	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0004298	HP:0010866	Abdominal wall defect	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0004298	HP:0010866	Abdominal wall defect	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0004298	HP:0010866	Abdominal wall defect	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0004298	HP:0010866	Abdominal wall defect	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2		2
HP:0004298	HP:0010866	Abdominal wall defect	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0004298	HP:0010866	Abdominal wall defect	1	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0004298	HP:0010866	Abdominal wall defect	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0004298	HP:0010866	Abdominal wall defect	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0004298	HP:0010866	Abdominal wall defect	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0004298	HP:0010866	Abdominal wall defect	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII		43
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0004298	HP:0010866	Abdominal wall defect	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0004298	HP:0010866	Abdominal wall defect	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome		231
HP:0004298	HP:0010866	Abdominal wall defect	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome		231
HP:0004298	HP:0100548	Exstrophy	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0004298	HP:0010866	Abdominal wall defect	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0004298	HP:0010866	Abdominal wall defect	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia		63
HP:0004298	HP:0010866	Abdominal wall defect	1	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia		63
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form		37
HP:0004298	HP:0010866	Abdominal wall defect	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form		37
HP:0004298	HP:0010866	Abdominal wall defect	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		11
HP:0004298	HP:0004392	Prune belly	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0004298	HP:0010866	Abdominal wall defect	1	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0004298	HP:0010866	Abdominal wall defect	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0004298	HP:0010866	Abdominal wall defect	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy		2
HP:0004298	HP:0010866	Abdominal wall defect	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy		2
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0004298	HP:0010866	Abdominal wall defect	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0004298	HP:0010866	Abdominal wall defect	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0004298	HP:0010866	Abdominal wall defect	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0004298	HP:0010866	Abdominal wall defect	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0004298	HP:0010866	Abdominal wall defect	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004298	HP:0010866	Abdominal wall defect	1	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome		9
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome		9
HP:0004298	HP:0010866	Abdominal wall defect	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome		43
HP:0004298	HP:0010866	Abdominal wall defect	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0004298	HP:0010866	Abdominal wall defect	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0004298	HP:0010866	Abdominal wall defect	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040283 - Occasional
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0004298	HP:0010866	Abdominal wall defect	1	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0004298	HP:0010866	Abdominal wall defect	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0004298	HP:0010866	Abdominal wall defect	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0004298	HP:0010866	Abdominal wall defect	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0004298	HP:0010866	Abdominal wall defect	1	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2		45
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy		244
HP:0004298	HP:0010866	Abdominal wall defect	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy		244
HP:0004298	HP:0010866	Abdominal wall defect	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0004298	HP:0010866	Abdominal wall defect	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0004298	HP:0010866	Abdominal wall defect	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0004298	HP:0010866	Abdominal wall defect	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0004298	HP:0010866	Abdominal wall defect	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0004298	HP:0010866	Abdominal wall defect	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0004298	HP:0010866	Abdominal wall defect	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0004298	HP:0010866	Abdominal wall defect	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities		2
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities		2
HP:0004298	HP:0010866	Abdominal wall defect	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0004298	HP:0010866	Abdominal wall defect	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0004298	HP:0010866	Abdominal wall defect	1	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2		58
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2		58
HP:0004298	HP:0010866	Abdominal wall defect	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0004298	HP:0010866	Abdominal wall defect	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0004298	HP:0010866	Abdominal wall defect	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0004298	HP:0010866	Abdominal wall defect	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0004298	HP:0010866	Abdominal wall defect	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0004298	HP:0010866	Abdominal wall defect	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0004298	HP:0010866	Abdominal wall defect	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0004298	HP:0010866	Abdominal wall defect	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0004298	HP:0010866	Abdominal wall defect	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0004298	HP:0010866	Abdominal wall defect	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0004298	HP:0010866	Abdominal wall defect	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome		31
HP:0004298	HP:0010866	Abdominal wall defect	1	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome		31
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0004298	HP:0010866	Abdominal wall defect	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0004298	HP:0010866	Abdominal wall defect	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0004298	HP:0010866	Abdominal wall defect	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0004298	HP:0010866	Abdominal wall defect	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0004298	HP:0010866	Abdominal wall defect	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0004298	HP:0010866	Abdominal wall defect	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0004298	HP:0010866	Abdominal wall defect	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0004298	HP:0010866	Abdominal wall defect	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0004298	HP:0010866	Abdominal wall defect	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0004298	HP:0010866	Abdominal wall defect	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0004298	HP:0010866	Abdominal wall defect	1	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome		43
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome		43
HP:0004298	HP:0010866	Abdominal wall defect	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0004298	HP:0010866	Abdominal wall defect	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0004298	HP:0010866	Abdominal wall defect	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0004298	HP:0010866	Abdominal wall defect	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0004298	HP:0010866	Abdominal wall defect	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0004298	HP:0010866	Abdominal wall defect	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0004298	HP:0010866	Abdominal wall defect	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0004298	HP:0010866	Abdominal wall defect	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0004298	HP:0010866	Abdominal wall defect	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0004298	HP:0010866	Abdominal wall defect	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0004298	HP:0010866	Abdominal wall defect	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0004298	HP:0010866	Abdominal wall defect	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0004298	HP:0010866	Abdominal wall defect	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0004298	HP:0010866	Abdominal wall defect	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0004298	HP:0010866	Abdominal wall defect	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0004298	HP:0010866	Abdominal wall defect	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy		126
HP:0004298	HP:0010866	Abdominal wall defect	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy		126
HP:0004298	HP:0010866	Abdominal wall defect	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy		427
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy		427
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0004298	HP:0010866	Abdominal wall defect	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0004298	HP:0010866	Abdominal wall defect	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p		6
HP:0004298	HP:0010866	Abdominal wall defect	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X		52
HP:0004298	HP:0010866	Abdominal wall defect	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0004298	HP:0010866	Abdominal wall defect	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0004298	HP:0010866	Abdominal wall defect	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0004298	HP:0010866	Abdominal wall defect	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0004298	HP:0010866	Abdominal wall defect	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome		134
HP:0004298	HP:0010866	Abdominal wall defect	1	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome		134
HP:0004298	HP:0010866	Abdominal wall defect	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0004298	HP:0010866	Abdominal wall defect	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0004298	HP:0010866	Abdominal wall defect	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency		2
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency		2
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy		11
HP:0004298	HP:0010866	Abdominal wall defect	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy		11
HP:0004298	HP:0010866	Abdominal wall defect	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0004298	HP:0010866	Abdominal wall defect	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0004298	HP:0010866	Abdominal wall defect	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0004298	HP:0010866	Abdominal wall defect	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0004298	HP:0010866	Abdominal wall defect	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0004298	HP:0010866	Abdominal wall defect	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0004298	HP:0010866	Abdominal wall defect	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0004298	HP:0010866	Abdominal wall defect	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0004298	HP:0010866	Abdominal wall defect	1	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B		166
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B		166
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB		166
HP:0004298	HP:0010866	Abdominal wall defect	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB		166
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0004298	HP:0010866	Abdominal wall defect	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0004298	HP:0010866	Abdominal wall defect	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0004298	HP:0010866	Abdominal wall defect	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0004298	HP:0010866	Abdominal wall defect	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0004298	HP:0010866	Abdominal wall defect	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0004298	HP:0010866	Abdominal wall defect	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0004298	HP:0010866	Abdominal wall defect	1	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1		59
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1		59
HP:0004298	HP:0010866	Abdominal wall defect	1	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia		81
HP:0004298	HP:0010866	Abdominal wall defect	1	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia		81
HP:0004298	HP:0010866	Abdominal wall defect	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0004298	HP:0010866	Abdominal wall defect	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0004298	HP:0010866	Abdominal wall defect	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0004298	HP:0010866	Abdominal wall defect	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0004298	HP:0010866	Abdominal wall defect	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0004298	HP:0010866	Abdominal wall defect	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0004298	HP:0010866	Abdominal wall defect	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome		504
HP:0004298	HP:0010866	Abdominal wall defect	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0004298	HP:0010866	Abdominal wall defect	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0004298	HP:0010866	Abdominal wall defect	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0004298	HP:0010866	Abdominal wall defect	1	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome		174
HP:0004298	HP:0010866	Abdominal wall defect	1	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism		3
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism		3
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0004298	HP:0010866	Abdominal wall defect	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0004298	HP:0010866	Abdominal wall defect	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0004298	HP:0010866	Abdominal wall defect	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0004298	HP:0010866	Abdominal wall defect	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0004298	HP:0010866	Abdominal wall defect	1	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis	HP:0040283 - Occasional	19
HP:0004298	HP:0010866	Abdominal wall defect	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0004298	HP:0010866	Abdominal wall defect	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0004298	HP:0010866	Abdominal wall defect	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0004298	HP:0010866	Abdominal wall defect	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0004298	HP:0010866	Abdominal wall defect	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0004298	HP:0010866	Abdominal wall defect	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0004298	HP:0010866	Abdominal wall defect	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0004298	HP:0010866	Abdominal wall defect	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0004298	HP:0010866	Abdominal wall defect	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0004298	HP:0010866	Abdominal wall defect	1	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0004298	HP:0010866	Abdominal wall defect	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0004298	HP:0010866	Abdominal wall defect	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome		6
HP:0004298	HP:0010866	Abdominal wall defect	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome		6
HP:0004298	HP:0010866	Abdominal wall defect	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0004298	HP:0010866	Abdominal wall defect	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0004298	HP:0010866	Abdominal wall defect	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0004298	HP:0010866	Abdominal wall defect	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0004298	HP:0010866	Abdominal wall defect	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0004298	HP:0010866	Abdominal wall defect	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0004298	HP:0010866	Abdominal wall defect	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0004298	HP:0010866	Abdominal wall defect	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6		9
HP:0004298	HP:0010866	Abdominal wall defect	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0004298	HP:0010866	Abdominal wall defect	1	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI		4
HP:0004298	HP:0010866	Abdominal wall defect	1	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0004298	HP:0010866	Abdominal wall defect	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0004298	HP:0010866	Abdominal wall defect	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0004298	HP:0010866	Abdominal wall defect	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0004298	HP:0010866	Abdominal wall defect	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0004298	HP:0010866	Abdominal wall defect	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0004298	HP:0010866	Abdominal wall defect	1	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0004298	HP:0100548	Exstrophy	1	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip		140
HP:0004298	HP:0010866	Abdominal wall defect	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip		140
HP:0004298	HP:0010866	Abdominal wall defect	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0004298	HP:0010866	Abdominal wall defect	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0004298	HP:0010866	Abdominal wall defect	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy		1
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A		133
HP:0004298	HP:0010866	Abdominal wall defect	1	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A		133
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0004298	HP:0010866	Abdominal wall defect	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0004298	HP:0010866	Abdominal wall defect	1	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4		9
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4		9
HP:0004298	HP:0010866	Abdominal wall defect	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0004298	HP:0010866	Abdominal wall defect	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0004298	HP:0010866	Abdominal wall defect	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0004298	HP:0010866	Abdominal wall defect	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		26
HP:0004298	HP:0010866	Abdominal wall defect	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0004298	HP:0010866	Abdominal wall defect	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0004298	HP:0010866	Abdominal wall defect	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0004298	HP:0010866	Abdominal wall defect	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0004298	HP:0010866	Abdominal wall defect	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0004298	HP:0010866	Abdominal wall defect	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0004298	HP:0010866	Abdominal wall defect	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0004298	HP:0010866	Abdominal wall defect	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0004298	HP:0100548	Exstrophy	1	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency		44
HP:0004298	HP:0010866	Abdominal wall defect	1	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly		2
HP:0004298	HP:0010866	Abdominal wall defect	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0004298	HP:0010866	Abdominal wall defect	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0004298	HP:0010866	Abdominal wall defect	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0004298	HP:0010866	Abdominal wall defect	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0004298	HP:0010866	Abdominal wall defect	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0004298	HP:0010866	Abdominal wall defect	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0004298	HP:0010866	Abdominal wall defect	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0004298	HP:0010866	Abdominal wall defect	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0004298	HP:0010866	Abdominal wall defect	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0004298	HP:0010866	Abdominal wall defect	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0004298	HP:0010991	Abnormal morphology of the abdominal musculature	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0004298	HP:0010866	Abdominal wall defect	1	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome		14
HP:0004298	HP:0010866	Abdominal wall defect	1	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome		14
HP:0004298	HP:0010866	Abdominal wall defect	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0004298	HP:0010866	Abdominal wall defect	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0004298	HP:0010866	Abdominal wall defect	1	ZEB1 CL E G H	6935	11642	OMIM:609141	Corneal dystrophy, posterior polymorphous, 3		8
HP:0004298	HP:0010866	Abdominal wall defect	1	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus		30
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus		30
HP:0004298	HP:0010866	Abdominal wall defect	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0004298	HP:0001551	Abnormal umbilicus morphology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0004298	HP:0032511	Superiorly positioned umbilicus	2	CL E G H
HP:0004298	HP:0012620	Cloacal abnormality	2	CL E G H
HP:0004298	HP:0010475	Cloacal exstrophy	2	CL E G H
HP:0004298	HP:0100656	Thoracoabdominal wall defect	2	CL E G H
HP:0004298	HP:0034453	Hypoplastic umbilicus	2	CL E G H
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus		245
HP:0004298	HP:0001537	Umbilical hernia	2	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	245
HP:0004298	HP:0001537	Umbilical hernia	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0004298	HP:0001537	Umbilical hernia	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040282 - Frequent	23
HP:0004298	HP:0001537	Umbilical hernia	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional	23
HP:0004298	HP:0001537	Umbilical hernia	2	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	23
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		23
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0004298	HP:0001537	Umbilical hernia	2	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0004298	HP:0001537	Umbilical hernia	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare	47
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0004298	HP:0001537	Umbilical hernia	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0004298	HP:0001537	Umbilical hernia	2	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent	76
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria		76
HP:0004298	HP:0001537	Umbilical hernia	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0004298	HP:0001544	Prominent umbilicus	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0004298	HP:0001537	Umbilical hernia	2	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	AMH CL E G H	268	464	ORPHA:2856	Persistent Müllerian duct syndrome		9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II		9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	AMHR2 CL E G H	269	465	ORPHA:2856	Persistent Müllerian duct syndrome		8
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II		8
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0004298	HP:0001537	Umbilical hernia	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0004298	HP:0001537	Umbilical hernia	2	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040282 - Frequent	8
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome		13
HP:0004298	HP:0001537	Umbilical hernia	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome		125
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias		125
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0004298	HP:0001537	Umbilical hernia	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0004298	HP:0001537	Umbilical hernia	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0004298	HP:0001537	Umbilical hernia	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome		166
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0004298	HP:0001537	Umbilical hernia	2	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia
HP:0004298	HP:0001537	Umbilical hernia	2	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0004298	HP:0001537	Umbilical hernia	2	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0004298	HP:0001537	Umbilical hernia	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0004298	HP:0001537	Umbilical hernia	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0004298	HP:0001537	Umbilical hernia	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent	192
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent	192
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0004298	HP:0001537	Umbilical hernia	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0004298	HP:0001537	Umbilical hernia	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0004298	HP:0001537	Umbilical hernia	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0004298	HP:0001537	Umbilical hernia	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0004298	HP:0001537	Umbilical hernia	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0004298	HP:0001540	Diastasis recti	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0004298	HP:0001537	Umbilical hernia	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	HP:0040283 - Occasional	101
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome		4
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII		49
HP:0004298	HP:0001537	Umbilical hernia	2	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional	49
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0004298	HP:0001537	Umbilical hernia	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0004298	HP:0001537	Umbilical hernia	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0004298	HP:0001537	Umbilical hernia	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0004298	HP:0001544	Prominent umbilicus	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0004298	HP:0001537	Umbilical hernia	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0004298	HP:0001537	Umbilical hernia	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0004298	HP:0001537	Umbilical hernia	2	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	.	7
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2		7
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	85
HP:0004298	HP:0001537	Umbilical hernia	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0004298	HP:0001537	Umbilical hernia	2	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	118
HP:0004298	HP:0001544	Prominent umbilicus	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0004298	HP:0001537	Umbilical hernia	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040283 - Occasional	83
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0004298	HP:0001537	Umbilical hernia	2	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	4
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0004298	HP:0002836	Bladder exstrophy	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040284 - Very rare	2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0004298	HP:0001537	Umbilical hernia	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040284 - Very rare	2
HP:0004298	HP:0001537	Umbilical hernia	2	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	405
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0004298	HP:0001540	Diastasis recti	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0004298	HP:0001540	Diastasis recti	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0004298	HP:0001537	Umbilical hernia	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0004298	HP:0001537	Umbilical hernia	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0004298	HP:0001537	Umbilical hernia	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0004298	HP:0001537	Umbilical hernia	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0004298	HP:0001537	Umbilical hernia	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0004298	HP:0001540	Diastasis recti	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome		3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome		45
HP:0004298	HP:0001537	Umbilical hernia	2	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	HP:0040283 - Occasional	42
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement		42
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		373
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0004298	HP:0001537	Umbilical hernia	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		243
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form		243
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0004298	HP:0001537	Umbilical hernia	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0004298	HP:0001537	Umbilical hernia	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0004298	HP:0001537	Umbilical hernia	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0004298	HP:0001537	Umbilical hernia	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.	660
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0004298	HP:0001537	Umbilical hernia	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0004298	HP:0001540	Diastasis recti	2	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	3
HP:0004298	HP:0001537	Umbilical hernia	2	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	3
HP:0004298	HP:0001540	Diastasis recti	2	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0004298	HP:0001540	Diastasis recti	2	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	9
HP:0004298	HP:0001537	Umbilical hernia	2	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2		9
HP:0004298	HP:0001540	Diastasis recti	2	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0004298	HP:0001537	Umbilical hernia	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0004298	HP:0001537	Umbilical hernia	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis		2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004298	HP:0001537	Umbilical hernia	2	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0001543	Gastroschisis	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0004298	HP:0001540	Diastasis recti	2	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent	1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0004298	HP:0001537	Umbilical hernia	2	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional	1
HP:0004298	HP:0001540	Diastasis recti	2	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0004298	HP:0001537	Umbilical hernia	2	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0004298	HP:0001540	Diastasis recti	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0004298	HP:0001537	Umbilical hernia	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0004298	HP:0001537	Umbilical hernia	2	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0004298	HP:0001537	Umbilical hernia	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare	44
HP:0004298	HP:0001537	Umbilical hernia	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0004298	HP:0001537	Umbilical hernia	2	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	79
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2		13
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0004298	HP:0001537	Umbilical hernia	2	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	121
HP:0004298	HP:0001537	Umbilical hernia	2	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional	121
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism		121
HP:0004298	HP:0001537	Umbilical hernia	2	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	11
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0004298	HP:0001537	Umbilical hernia	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0004298	HP:0001537	Umbilical hernia	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0004298	HP:0001537	Umbilical hernia	2	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2	HP:0040283 - Occasional	14
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0004298	HP:0001537	Umbilical hernia	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0004298	HP:0001537	Umbilical hernia	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB		45
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0004298	HP:0001537	Umbilical hernia	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0004298	HP:0001537	Umbilical hernia	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	223
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001540	Diastasis recti	2	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	.	3
HP:0004298	HP:0001537	Umbilical hernia	2	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	.	3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous		3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0004298	HP:0001537	Umbilical hernia	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0004298	HP:0001537	Umbilical hernia	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation		62
HP:0004298	HP:0001537	Umbilical hernia	2	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0004298	HP:0001537	Umbilical hernia	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	HP:0040283 - Occasional	4
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0004298	HP:0001537	Umbilical hernia	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0004298	HP:0001537	Umbilical hernia	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0004298	HP:0001537	Umbilical hernia	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0004298	HP:0001537	Umbilical hernia	2	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0004298	HP:0001540	Diastasis recti	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0004298	HP:0001537	Umbilical hernia	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0004298	HP:0001537	Umbilical hernia	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0004298	HP:0001537	Umbilical hernia	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus		58
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0004298	HP:0001537	Umbilical hernia	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0004298	HP:0001537	Umbilical hernia	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0004298	HP:0001537	Umbilical hernia	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0004298	HP:0001537	Umbilical hernia	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0004298	HP:0001537	Umbilical hernia	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0004298	HP:0001537	Umbilical hernia	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0004298	HP:0001537	Umbilical hernia	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0004298	HP:0001537	Umbilical hernia	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA		63
HP:0004298	HP:0001537	Umbilical hernia	2	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	1361
HP:0004298	HP:0001537	Umbilical hernia	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	1361
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0004298	HP:0001537	Umbilical hernia	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0004298	HP:0001537	Umbilical hernia	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0004298	HP:0032277	Lozenge-shaped umbilicus	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0004298	HP:0001537	Umbilical hernia	2	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040281 - Very frequent	62
HP:0004298	HP:0001544	Prominent umbilicus	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly		172
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia		172
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1		172
HP:0004298	HP:0001537	Umbilical hernia	2	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040283 - Occasional	175
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0004298	HP:0001537	Umbilical hernia	2	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040283 - Occasional	13
HP:0004298	HP:0001537	Umbilical hernia	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome		493
HP:0004298	HP:0001537	Umbilical hernia	2	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent	493
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia		233
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040282 - Frequent	233
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0004298	HP:0001537	Umbilical hernia	2	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004298	HP:0001540	Diastasis recti	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0004298	HP:0001537	Umbilical hernia	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly		198
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome		198
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0004298	HP:0001537	Umbilical hernia	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0004298	HP:0001537	Umbilical hernia	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0004298	HP:0001537	Umbilical hernia	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0004298	HP:0001537	Umbilical hernia	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare	37
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0004298	HP:0001537	Umbilical hernia	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0004298	HP:0001537	Umbilical hernia	2	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0004298	HP:0001537	Umbilical hernia	2	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040283 - Occasional	270
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome		270
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0004298	HP:0001537	Umbilical hernia	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0004298	HP:0001537	Umbilical hernia	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional	143
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0004298	HP:0001537	Umbilical hernia	2	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent	63
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia		63
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1		63
HP:0004298	HP:0001537	Umbilical hernia	2	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.	63
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia		46
HP:0004298	HP:0001537	Umbilical hernia	2	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent	46
HP:0004298	HP:0001537	Umbilical hernia	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0004298	HP:0001537	Umbilical hernia	2	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	36
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0004298	HP:0001540	Diastasis recti	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0004298	HP:0001537	Umbilical hernia	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0004298	HP:0001537	Umbilical hernia	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040281 - Very frequent	240
HP:0004298	HP:0001540	Diastasis recti	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0004298	HP:0001537	Umbilical hernia	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0004298	HP:0001537	Umbilical hernia	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0004298	HP:0001537	Umbilical hernia	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004298	HP:0001540	Diastasis recti	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004298	HP:0001537	Umbilical hernia	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004298	HP:0001540	Diastasis recti	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0004298	HP:0001537	Umbilical hernia	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0004298	HP:0001537	Umbilical hernia	2	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent	18
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia		18
HP:0004298	HP:0001537	Umbilical hernia	2	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.	18
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1		18
HP:0004298	HP:0001537	Umbilical hernia	2	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	108
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures		274
HP:0004298	HP:0001537	Umbilical hernia	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0004298	HP:0001537	Umbilical hernia	2	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0004298	HP:0001537	Umbilical hernia	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0004298	HP:0001537	Umbilical hernia	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0001537	Umbilical hernia	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0001537	Umbilical hernia	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004298	HP:0001537	Umbilical hernia	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0001537	Umbilical hernia	2	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent	54
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7		54
HP:0004298	HP:0001537	Umbilical hernia	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia		4
HP:0004298	HP:0001537	Umbilical hernia	2	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	4
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication		4
HP:0004298	HP:0001540	Diastasis recti	2	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional	4
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0004298	HP:0001540	Diastasis recti	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0004298	HP:0001537	Umbilical hernia	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0004298	HP:0001537	Umbilical hernia	2	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0004298	HP:0001537	Umbilical hernia	2	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	6
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0004298	HP:0001537	Umbilical hernia	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0004298	HP:0001537	Umbilical hernia	2	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0004298	HP:0001537	Umbilical hernia	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0004298	HP:0001537	Umbilical hernia	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0004298	HP:0001537	Umbilical hernia	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0004298	HP:0001537	Umbilical hernia	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0004298	HP:0001537	Umbilical hernia	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0004298	HP:0001537	Umbilical hernia	2	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0004298	HP:0001537	Umbilical hernia	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0004298	HP:0001537	Umbilical hernia	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0004298	HP:0001537	Umbilical hernia	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0004298	HP:0001537	Umbilical hernia	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0004298	HP:0001537	Umbilical hernia	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.	115
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0004298	HP:0001537	Umbilical hernia	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0004298	HP:0001540	Diastasis recti	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia		9
HP:0004298	HP:0001537	Umbilical hernia	2	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication		9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0004298	HP:0001540	Diastasis recti	2	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional	9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0004298	HP:0001537	Umbilical hernia	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	99
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip		99
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0004298	HP:0001537	Umbilical hernia	2	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	2
HP:0004298	HP:0002836	Bladder exstrophy	2	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0004298	HP:0001537	Umbilical hernia	2	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	130
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0004298	HP:0001537	Umbilical hernia	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0004298	HP:0001544	Prominent umbilicus	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0004298	HP:0001537	Umbilical hernia	2	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	145
HP:0004298	HP:0001537	Umbilical hernia	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0004298	HP:0001537	Umbilical hernia	2	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	127
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus		127
HP:0004298	HP:0001537	Umbilical hernia	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0004298	HP:0001540	Diastasis recti	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0004298	HP:0001540	Diastasis recti	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia		1
HP:0004298	HP:0001537	Umbilical hernia	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0004298	HP:0001537	Umbilical hernia	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0004298	HP:0001537	Umbilical hernia	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	99
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004298	HP:0001537	Umbilical hernia	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome		1
HP:0004298	HP:0001537	Umbilical hernia	2	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0004298	HP:0002836	Bladder exstrophy	2	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0004298	HP:0001537	Umbilical hernia	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0004298	HP:0001537	Umbilical hernia	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0004298	HP:0001537	Umbilical hernia	2	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0004298	HP:0001537	Umbilical hernia	2	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001544	Prominent umbilicus	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	645
HP:0004298	HP:0001537	Umbilical hernia	2	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0004298	HP:0001537	Umbilical hernia	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040282 - Frequent	289
HP:0004298	HP:0001537	Umbilical hernia	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome		289
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0004298	HP:0001537	Umbilical hernia	2	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0004298	HP:0001537	Umbilical hernia	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias		5
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0004298	HP:0001537	Umbilical hernia	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis		55
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0004298	HP:0001537	Umbilical hernia	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome		21
HP:0004298	HP:0001537	Umbilical hernia	2	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	21
HP:0004298	HP:0001540	Diastasis recti	2	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	21
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0004298	HP:0001537	Umbilical hernia	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040281 - Very frequent	78
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040282 - Frequent	950
HP:0004298	HP:0001537	Umbilical hernia	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004298	HP:0001537	Umbilical hernia	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004298	HP:0002836	Bladder exstrophy	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0004298	HP:0001537	Umbilical hernia	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0004298	HP:0001537	Umbilical hernia	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0004298	HP:0001540	Diastasis recti	2	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent	1
HP:0004298	HP:0001537	Umbilical hernia	2	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional	1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0004298	HP:0001537	Umbilical hernia	2	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0004298	HP:0001540	Diastasis recti	2	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0004298	HP:0001540	Diastasis recti	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0004298	HP:0001537	Umbilical hernia	2	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional	13
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome		13
HP:0004298	HP:0001537	Umbilical hernia	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional	13
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome		7
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0004298	HP:0001537	Umbilical hernia	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0004298	HP:0001537	Umbilical hernia	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0004298	HP:0001537	Umbilical hernia	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0004298	HP:0001537	Umbilical hernia	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0004298	HP:0001537	Umbilical hernia	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0004298	HP:0001537	Umbilical hernia	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		64
HP:0004298	HP:0001537	Umbilical hernia	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip		12
HP:0004298	HP:0001537	Umbilical hernia	2	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	12
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly		183
HP:0004298	HP:0001540	Diastasis recti	2	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional	68
HP:0004298	HP:0001540	Diastasis recti	2	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0004298	HP:0001537	Umbilical hernia	2	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		418
HP:0004298	HP:0001537	Umbilical hernia	2	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	418
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0004298	HP:0001537	Umbilical hernia	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0004298	HP:0001537	Umbilical hernia	2	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	326
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		326
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0004298	HP:0001537	Umbilical hernia	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0004298	HP:0001537	Umbilical hernia	2	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.	48
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0004298	HP:0001537	Umbilical hernia	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0004298	HP:0001537	Umbilical hernia	2	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	4
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip		4
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0004298	HP:0001537	Umbilical hernia	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2		43
HP:0004298	HP:0001537	Umbilical hernia	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0004298	HP:0001537	Umbilical hernia	2	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0004298	HP:0001537	Umbilical hernia	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia		90
HP:0004298	HP:0001537	Umbilical hernia	2	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent	90
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional	217
HP:0004298	HP:0001537	Umbilical hernia	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional	452
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0004298	HP:0001537	Umbilical hernia	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0004298	HP:0001537	Umbilical hernia	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0004298	HP:0001537	Umbilical hernia	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0004298	HP:0001537	Umbilical hernia	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent	144
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0004298	HP:0001537	Umbilical hernia	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0004298	HP:0001537	Umbilical hernia	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.	34
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0004298	HP:0001537	Umbilical hernia	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2		2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0004298	HP:0001537	Umbilical hernia	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0004298	HP:0001537	Umbilical hernia	2	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2	HP:0040283 - Occasional	88
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0004298	HP:0001537	Umbilical hernia	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII		43
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0004298	HP:0001537	Umbilical hernia	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome		231
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome		231
HP:0004298	HP:0002836	Bladder exstrophy	2	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040284 - Very rare	641
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0004298	HP:0001537	Umbilical hernia	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0004298	HP:0001537	Umbilical hernia	2	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia		63
HP:0004298	HP:0001537	Umbilical hernia	2	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent	63
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form		37
HP:0004298	HP:0001537	Umbilical hernia	2	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		11
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy		2
HP:0004298	HP:0001537	Umbilical hernia	2	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0004298	HP:0001537	Umbilical hernia	2	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0004298	HP:0001540	Diastasis recti	2	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0004298	HP:0001537	Umbilical hernia	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004298	HP:0001537	Umbilical hernia	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0004298	HP:0001537	Umbilical hernia	2	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome		9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome		43
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0004298	HP:0001537	Umbilical hernia	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0004298	HP:0001537	Umbilical hernia	2	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0004298	HP:0001537	Umbilical hernia	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2		45
HP:0004298	HP:0001537	Umbilical hernia	2	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	244
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy		244
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0004298	HP:0001537	Umbilical hernia	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0004298	HP:0001537	Umbilical hernia	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0004298	HP:0001537	Umbilical hernia	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0004298	HP:0001540	Diastasis recti	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0004298	HP:0001540	Diastasis recti	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0004298	HP:0001537	Umbilical hernia	2	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0004298	HP:0001537	Umbilical hernia	2	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities		2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0004298	HP:0001540	Diastasis recti	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0004298	HP:0001537	Umbilical hernia	2	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	HP:0040283 - Occasional	58
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2		58
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0004298	HP:0001537	Umbilical hernia	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0004298	HP:0001537	Umbilical hernia	2	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0004298	HP:0001537	Umbilical hernia	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0004298	HP:0001537	Umbilical hernia	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	291
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0004298	HP:0001537	Umbilical hernia	2	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional	31
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome		31
HP:0004298	HP:0001537	Umbilical hernia	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0004298	HP:0001537	Umbilical hernia	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0004298	HP:0001537	Umbilical hernia	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0004298	HP:0001537	Umbilical hernia	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0004298	HP:0001537	Umbilical hernia	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	212
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0004298	HP:0001537	Umbilical hernia	2	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	HP:0040283 - Occasional	43
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0004298	HP:0001537	Umbilical hernia	2	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040282 - Frequent	43
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome		43
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0004298	HP:0032527	Inferiorly positioned umbilicus	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0004298	HP:0001537	Umbilical hernia	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0004298	HP:0001537	Umbilical hernia	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0004298	HP:0001537	Umbilical hernia	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0004298	HP:0001537	Umbilical hernia	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0004298	HP:0001537	Umbilical hernia	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001540	Diastasis recti	2	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	2	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0004298	HP:0001540	Diastasis recti	2	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	2	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0004298	HP:0001540	Diastasis recti	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0004298	HP:0001537	Umbilical hernia	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy		126
HP:0004298	HP:0001537	Umbilical hernia	2	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	126
HP:0004298	HP:0001537	Umbilical hernia	2	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	427
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy		427
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0004298	HP:0001537	Umbilical hernia	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p		6
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X		52
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0004298	HP:0001537	Umbilical hernia	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0004298	HP:0001537	Umbilical hernia	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0004298	HP:0001543	Gastroschisis	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0004298	HP:0001537	Umbilical hernia	2	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome		134
HP:0004298	HP:0001537	Umbilical hernia	2	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040283 - Occasional	134
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0004298	HP:0001537	Umbilical hernia	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional	53
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0004298	HP:0001540	Diastasis recti	2	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency		2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy		11
HP:0004298	HP:0001537	Umbilical hernia	2	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	11
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0004298	HP:0001537	Umbilical hernia	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0004298	HP:0001537	Umbilical hernia	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	150
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	150
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0004298	HP:0001537	Umbilical hernia	2	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040282 - Frequent
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0004298	HP:0001537	Umbilical hernia	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B		166
HP:0004298	HP:0001537	Umbilical hernia	2	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040282 - Frequent	166
HP:0004298	HP:0001537	Umbilical hernia	2	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB		166
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0004298	HP:0001537	Umbilical hernia	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0004298	HP:0001537	Umbilical hernia	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0004298	HP:0001537	Umbilical hernia	2	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0004298	HP:0001537	Umbilical hernia	2	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	59
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0004298	HP:0001537	Umbilical hernia	2	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1	.	59
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1		59
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0004298	HP:0001537	Umbilical hernia	2	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent	81
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia		81
HP:0004298	HP:0001537	Umbilical hernia	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0004298	HP:0001537	Umbilical hernia	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0004298	HP:0001537	Umbilical hernia	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome		504
HP:0004298	HP:0001537	Umbilical hernia	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome		174
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism		3
HP:0004298	HP:0001537	Umbilical hernia	2	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.	3
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0004298	HP:0001537	Umbilical hernia	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0004298	HP:0001540	Diastasis recti	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0004298	HP:0001537	Umbilical hernia	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0004298	HP:0001537	Umbilical hernia	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	2	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0004298	HP:0001537	Umbilical hernia	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0004298	HP:0001540	Diastasis recti	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0004298	HP:0001537	Umbilical hernia	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0004298	HP:0001537	Umbilical hernia	2	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0004298	HP:0001537	Umbilical hernia	2	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0004298	HP:0001537	Umbilical hernia	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0004298	HP:0001537	Umbilical hernia	2	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	155
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome		6
HP:0004298	HP:0001537	Umbilical hernia	2	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0004298	HP:0001537	Umbilical hernia	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	HP:0040283 - Occasional	253
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6		9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI		4
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0004298	HP:0001537	Umbilical hernia	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0004298	HP:0001537	Umbilical hernia	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0004298	HP:0001537	Umbilical hernia	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0004298	HP:0002836	Bladder exstrophy	2	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	140
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0004298	HP:0001537	Umbilical hernia	2	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	140
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip		140
HP:0004298	HP:0001537	Umbilical hernia	2	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	140
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0004298	HP:0001537	Umbilical hernia	2	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	92
HP:0004298	HP:0001537	Umbilical hernia	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy		1
HP:0004298	HP:0001537	Umbilical hernia	2	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0004298	HP:0001537	Umbilical hernia	2	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040282 - Frequent	133
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A		133
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0004298	HP:0001537	Umbilical hernia	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4		9
HP:0004298	HP:0001537	Umbilical hernia	2	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.	9
HP:0004298	HP:0001537	Umbilical hernia	2	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0004298	HP:0001537	Umbilical hernia	2	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional	97
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		26
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0004298	HP:0001537	Umbilical hernia	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0004298	HP:0001537	Umbilical hernia	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0004298	HP:0001537	Umbilical hernia	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0004298	HP:0002836	Bladder exstrophy	2	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency	.	44
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly		2
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0004298	HP:0001537	Umbilical hernia	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0004298	HP:0001543	Gastroschisis	2	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0004298	HP:0001537	Umbilical hernia	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0004298	HP:0001537	Umbilical hernia	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0004298	HP:0001537	Umbilical hernia	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0004298	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	2	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	14
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome		14
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome		14
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0004298	HP:0001537	Umbilical hernia	2	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	9
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0004298	HP:0001537	Umbilical hernia	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ZEB1 CL E G H	6935	11642	OMIM:609141	Corneal dystrophy, posterior polymorphous, 3		8
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus		30
HP:0004298	HP:0001537	Umbilical hernia	2	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	30
HP:0004298	HP:0004299	Hernia of the abdominal wall	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0004298	HP:0001544	Prominent umbilicus	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	83
HP:0004298	HP:0012621	Persistent cloaca	3	CL E G H
HP:0004298	HP:0010475	Cloacal exstrophy	3	CL E G H
HP:0004298	HP:0100657	Thoracoabdominal eventration	3	CL E G H
HP:0004298	HP:0001537	Umbilical hernia	3	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	245
HP:0004298	HP:0001537	Umbilical hernia	3	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0004298	HP:0001537	Umbilical hernia	3	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0004298	HP:0000023	Inguinal hernia	3	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0004298	HP:0000023	Inguinal hernia	3	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0004298	HP:0001537	Umbilical hernia	3	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional	23
HP:0004298	HP:0001537	Umbilical hernia	3	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	23
HP:0004298	HP:0001539	Omphalocele	3	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	23
HP:0004298	HP:0100541	Femoral hernia	3	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent	165
HP:0004298	HP:0000023	Inguinal hernia	3	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent	165
HP:0004298	HP:0001537	Umbilical hernia	3	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0004298	HP:0000023	Inguinal hernia	3	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0004298	HP:0100541	Femoral hernia	3	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent	72
HP:0004298	HP:0000023	Inguinal hernia	3	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent	72
HP:0004298	HP:0000023	Inguinal hernia	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare	47
HP:0004298	HP:0001537	Umbilical hernia	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare	47
HP:0004298	HP:0002933	Ventral hernia	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040282 - Frequent
HP:0004298	HP:0000023	Inguinal hernia	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040282 - Frequent
HP:0004298	HP:0002933	Ventral hernia	3	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0004298	HP:0001537	Umbilical hernia	3	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0004298	HP:0000023	Inguinal hernia	3	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0004298	HP:0001537	Umbilical hernia	3	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent	76
HP:0004298	HP:0000023	Inguinal hernia	3	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040283 - Occasional	76
HP:0004298	HP:0001537	Umbilical hernia	3	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0004298	HP:0000023	Inguinal hernia	3	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional	89
HP:0004298	HP:0001537	Umbilical hernia	3	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0004298	HP:0000023	Inguinal hernia	3	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0004298	HP:0001539	Omphalocele	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0004298	HP:0001539	Omphalocele	3	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0004298	HP:0001539	Omphalocele	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	HP:0040284 - Very rare	34
HP:0004298	HP:0000023	Inguinal hernia	3	AMH CL E G H	268	464	ORPHA:2856	Persistent Müllerian duct syndrome	HP:0040282 - Frequent	9
HP:0004298	HP:0000023	Inguinal hernia	3	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II		9
HP:0004298	HP:0000023	Inguinal hernia	3	AMHR2 CL E G H	269	465	ORPHA:2856	Persistent Müllerian duct syndrome	HP:0040282 - Frequent	8
HP:0004298	HP:0000023	Inguinal hernia	3	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II		8
HP:0004298	HP:0001537	Umbilical hernia	3	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0004298	HP:0001537	Umbilical hernia	3	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040282 - Frequent	8
HP:0004298	HP:0000023	Inguinal hernia	3	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome	HP:0040281 - Very frequent	13
HP:0004298	HP:0001537	Umbilical hernia	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0004298	HP:0000023	Inguinal hernia	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0004298	HP:0000023	Inguinal hernia	3	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0004298	HP:0001539	Omphalocele	3	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	125
HP:0004298	HP:0000023	Inguinal hernia	3	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0004298	HP:0001537	Umbilical hernia	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0004298	HP:0000023	Inguinal hernia	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0004298	HP:0000023	Inguinal hernia	3	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0004298	HP:0001537	Umbilical hernia	3	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0004298	HP:0000023	Inguinal hernia	3	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0004298	HP:0000023	Inguinal hernia	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0004298	HP:0001537	Umbilical hernia	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0004298	HP:0000023	Inguinal hernia	3	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040283 - Occasional	166
HP:0004298	HP:0001537	Umbilical hernia	3	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0004298	HP:0001537	Umbilical hernia	3	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	3	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0004298	HP:0000023	Inguinal hernia	3	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0004298	HP:0000023	Inguinal hernia	3	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0004298	HP:0000023	Inguinal hernia	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	140
HP:0004298	HP:0000023	Inguinal hernia	3	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0004298	HP:0000023	Inguinal hernia	3	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0004298	HP:0001537	Umbilical hernia	3	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0004298	HP:0001537	Umbilical hernia	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0004298	HP:0000023	Inguinal hernia	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0004298	HP:0000023	Inguinal hernia	3	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	3
HP:0004298	HP:0000023	Inguinal hernia	3	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0004298	HP:0000023	Inguinal hernia	3	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	2
HP:0004298	HP:0001537	Umbilical hernia	3	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent	192
HP:0004298	HP:0000023	Inguinal hernia	3	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent	192
HP:0004298	HP:0000023	Inguinal hernia	3	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0004298	HP:0100541	Femoral hernia	3	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0004298	HP:0001537	Umbilical hernia	3	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0004298	HP:0001537	Umbilical hernia	3	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0004298	HP:0000023	Inguinal hernia	3	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0004298	HP:0000023	Inguinal hernia	3	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0004298	HP:0001537	Umbilical hernia	3	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0004298	HP:0000023	Inguinal hernia	3	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	5
HP:0004298	HP:0001537	Umbilical hernia	3	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0004298	HP:0000023	Inguinal hernia	3	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0004298	HP:0001537	Umbilical hernia	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0004298	HP:0000023	Inguinal hernia	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	3	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0004298	HP:0001537	Umbilical hernia	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0000023	Inguinal hernia	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	HP:0040283 - Occasional	101
HP:0004298	HP:0000023	Inguinal hernia	3	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0004298	HP:0001539	Omphalocele	3	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional	4
HP:0004298	HP:0001537	Umbilical hernia	3	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional	49
HP:0004298	HP:0000023	Inguinal hernia	3	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0004298	HP:0000023	Inguinal hernia	3	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0004298	HP:0001537	Umbilical hernia	3	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0004298	HP:0001537	Umbilical hernia	3	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0004298	HP:0000023	Inguinal hernia	3	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0004298	HP:0001537	Umbilical hernia	3	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0004298	HP:0001537	Umbilical hernia	3	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0004298	HP:0000023	Inguinal hernia	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0000023	Inguinal hernia	3	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0004298	HP:0001537	Umbilical hernia	3	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0004298	HP:0000023	Inguinal hernia	3	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	.	7
HP:0004298	HP:0001537	Umbilical hernia	3	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	.	7
HP:0004298	HP:0001537	Umbilical hernia	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	3	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	118
HP:0004298	HP:0000023	Inguinal hernia	3	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.	242
HP:0004298	HP:0000023	Inguinal hernia	3	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	247
HP:0004298	HP:0001537	Umbilical hernia	3	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0004298	HP:0000023	Inguinal hernia	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0004298	HP:0001539	Omphalocele	3	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0004298	HP:0001539	Omphalocele	3	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040283 - Occasional	83
HP:0004298	HP:0000023	Inguinal hernia	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0004298	HP:0000023	Inguinal hernia	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0004298	HP:0001537	Umbilical hernia	3	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	4
HP:0004298	HP:0001537	Umbilical hernia	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040284 - Very rare	2
HP:0004298	HP:0001537	Umbilical hernia	3	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	405
HP:0004298	HP:0001539	Omphalocele	3	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0004298	HP:0000023	Inguinal hernia	3	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0004298	HP:0001539	Omphalocele	3	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0004298	HP:0001537	Umbilical hernia	3	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0004298	HP:0001537	Umbilical hernia	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0004298	HP:0001539	Omphalocele	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0004298	HP:0005199	Aplasia of the abdominal wall musculature	3	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040281 - Very frequent	4
HP:0004298	HP:0005199	Aplasia of the abdominal wall musculature	3	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0004298	HP:0001537	Umbilical hernia	3	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0004298	HP:0000023	Inguinal hernia	3	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	68
HP:0004298	HP:0001537	Umbilical hernia	3	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0004298	HP:0000023	Inguinal hernia	3	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0004298	HP:0001537	Umbilical hernia	3	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0004298	HP:0000023	Inguinal hernia	3	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040284 - Very rare	27
HP:0004298	HP:0000023	Inguinal hernia	3	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	165
HP:0004298	HP:0001539	Omphalocele	3	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome		3
HP:0004298	HP:0000023	Inguinal hernia	3	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040284 - Very rare	45
HP:0004298	HP:0001537	Umbilical hernia	3	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	HP:0040283 - Occasional	42
HP:0004298	HP:0000023	Inguinal hernia	3	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	HP:0040282 - Frequent	42
HP:0004298	HP:0001537	Umbilical hernia	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0000023	Inguinal hernia	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004298	HP:0001539	Omphalocele	3	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional	215
HP:0004298	HP:0001539	Omphalocele	3	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0004298	HP:0001539	Omphalocele	3	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional	222
HP:0004298	HP:0000023	Inguinal hernia	3	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0004298	HP:0100541	Femoral hernia	3	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0004298	HP:0004872	Incisional hernia	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0004298	HP:0001537	Umbilical hernia	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0004298	HP:0000023	Inguinal hernia	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0004298	HP:0000023	Inguinal hernia	3	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0004298	HP:0000023	Inguinal hernia	3	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0004298	HP:0100541	Femoral hernia	3	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0004298	HP:0000023	Inguinal hernia	3	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0004298	HP:0000023	Inguinal hernia	3	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0004298	HP:0000023	Inguinal hernia	3	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0004298	HP:0001537	Umbilical hernia	3	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0004298	HP:0000023	Inguinal hernia	3	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0004298	HP:0000023	Inguinal hernia	3	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0004298	HP:0001537	Umbilical hernia	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0004298	HP:0000023	Inguinal hernia	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0004298	HP:0004872	Incisional hernia	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0004298	HP:0001537	Umbilical hernia	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0004298	HP:0000023	Inguinal hernia	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0004298	HP:0000023	Inguinal hernia	3	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0004298	HP:0001537	Umbilical hernia	3	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.	660
HP:0004298	HP:0000023	Inguinal hernia	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0004298	HP:0004872	Incisional hernia	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0004298	HP:0001537	Umbilical hernia	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0004298	HP:0001537	Umbilical hernia	3	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	3
HP:0004298	HP:0001537	Umbilical hernia	3	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	9
HP:0004298	HP:0005243	Partial abdominal muscle agenesis	3	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0004298	HP:0001537	Umbilical hernia	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0004298	HP:0000023	Inguinal hernia	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0004298	HP:0001537	Umbilical hernia	3	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0004298	HP:0000023	Inguinal hernia	3	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0004298	HP:0000023	Inguinal hernia	3	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0004298	HP:0000023	Inguinal hernia	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0004298	HP:0000023	Inguinal hernia	3	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional	15
HP:0004298	HP:0000023	Inguinal hernia	3	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent	38
HP:0004298	HP:0000023	Inguinal hernia	3	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0004298	HP:0001539	Omphalocele	3	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis	HP:0040283 - Occasional	2
HP:0004298	HP:0000023	Inguinal hernia	3	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004298	HP:0000023	Inguinal hernia	3	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0001537	Umbilical hernia	3	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0000023	Inguinal hernia	3	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0001537	Umbilical hernia	3	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0001537	Umbilical hernia	3	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0000023	Inguinal hernia	3	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0000023	Inguinal hernia	3	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040283 - Occasional	164
HP:0004298	HP:0100541	Femoral hernia	3	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040283 - Occasional	164
HP:0004298	HP:0005247	Hypoplasia of the abdominal wall musculature	3	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0004298	HP:0001539	Omphalocele	3	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional	1
HP:0004298	HP:0001537	Umbilical hernia	3	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional	1
HP:0004298	HP:0000023	Inguinal hernia	3	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0004298	HP:0001539	Omphalocele	3	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0004298	HP:0001537	Umbilical hernia	3	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0004298	HP:0001539	Omphalocele	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0004298	HP:0001537	Umbilical hernia	3	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0004298	HP:0000023	Inguinal hernia	3	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0004298	HP:0001537	Umbilical hernia	3	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0004298	HP:0000023	Inguinal hernia	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	3	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare	44
HP:0004298	HP:0001537	Umbilical hernia	3	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0004298	HP:0001537	Umbilical hernia	3	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	79
HP:0004298	HP:0000023	Inguinal hernia	3	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0004298	HP:0000023	Inguinal hernia	3	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0004298	HP:0000023	Inguinal hernia	3	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040284 - Very rare	13
HP:0004298	HP:0001537	Umbilical hernia	3	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	121
HP:0004298	HP:0001537	Umbilical hernia	3	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional	121
HP:0004298	HP:0001537	Umbilical hernia	3	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	11
HP:0004298	HP:0000023	Inguinal hernia	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0004298	HP:0100541	Femoral hernia	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0004298	HP:0001537	Umbilical hernia	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0004298	HP:0001537	Umbilical hernia	3	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0004298	HP:0000023	Inguinal hernia	3	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0004298	HP:0001537	Umbilical hernia	3	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2	HP:0040283 - Occasional	14
HP:0004298	HP:0001537	Umbilical hernia	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0004298	HP:0000023	Inguinal hernia	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0004298	HP:0100541	Femoral hernia	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0004298	HP:0001539	Omphalocele	3	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0004298	HP:0001539	Omphalocele	3	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0004298	HP:0001539	Omphalocele	3	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0004298	HP:0001539	Omphalocele	3	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0004298	HP:0000023	Inguinal hernia	3	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:0004298	HP:0001537	Umbilical hernia	3	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0004298	HP:0000023	Inguinal hernia	3	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	4
HP:0004298	HP:0000023	Inguinal hernia	3	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	45
HP:0004298	HP:0000023	Inguinal hernia	3	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0004298	HP:0001537	Umbilical hernia	3	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0004298	HP:0000023	Inguinal hernia	3	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0004298	HP:0100541	Femoral hernia	3	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0004298	HP:0001537	Umbilical hernia	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	223
HP:0004298	HP:0000023	Inguinal hernia	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0004298	HP:0000023	Inguinal hernia	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	3	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	.	3
HP:0004298	HP:0000023	Inguinal hernia	3	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional	172
HP:0004298	HP:0000023	Inguinal hernia	3	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1	.	172
HP:0004298	HP:0000023	Inguinal hernia	3	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0004298	HP:0001537	Umbilical hernia	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0004298	HP:0000023	Inguinal hernia	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0004298	HP:0001537	Umbilical hernia	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0004298	HP:0000023	Inguinal hernia	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0004298	HP:0000023	Inguinal hernia	3	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.	62
HP:0004298	HP:0001537	Umbilical hernia	3	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0004298	HP:0001537	Umbilical hernia	3	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	HP:0040283 - Occasional	4
HP:0004298	HP:0001537	Umbilical hernia	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0004298	HP:0001537	Umbilical hernia	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0004298	HP:0001537	Umbilical hernia	3	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0004298	HP:0001537	Umbilical hernia	3	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0000023	Inguinal hernia	3	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0004298	HP:0000023	Inguinal hernia	3	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	81
HP:0004298	HP:0001537	Umbilical hernia	3	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0004298	HP:0000023	Inguinal hernia	3	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0004298	HP:0001537	Umbilical hernia	3	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0004298	HP:0001537	Umbilical hernia	3	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0004298	HP:0100541	Femoral hernia	3	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional	58
HP:0004298	HP:0000023	Inguinal hernia	3	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional	58
HP:0004298	HP:0001537	Umbilical hernia	3	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0004298	HP:0001537	Umbilical hernia	3	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0004298	HP:0001537	Umbilical hernia	3	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0004298	HP:0001537	Umbilical hernia	3	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0004298	HP:0001537	Umbilical hernia	3	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0004298	HP:0001537	Umbilical hernia	3	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0004298	HP:0001537	Umbilical hernia	3	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0004298	HP:0001537	Umbilical hernia	3	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0004298	HP:0000023	Inguinal hernia	3	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0004298	HP:0000023	Inguinal hernia	3	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional	63
HP:0004298	HP:0000023	Inguinal hernia	3	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	63
HP:0004298	HP:0001537	Umbilical hernia	3	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0004298	HP:0000023	Inguinal hernia	3	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0004298	HP:0000023	Inguinal hernia	3	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0004298	HP:0004872	Incisional hernia	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.	1361
HP:0004298	HP:0001537	Umbilical hernia	3	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	1361
HP:0004298	HP:0000023	Inguinal hernia	3	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	1361
HP:0004298	HP:0001537	Umbilical hernia	3	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0004298	HP:0001537	Umbilical hernia	3	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0004298	HP:0000023	Inguinal hernia	3	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0004298	HP:0000023	Inguinal hernia	3	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent	62
HP:0004298	HP:0001537	Umbilical hernia	3	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040281 - Very frequent	62
HP:0004298	HP:0000023	Inguinal hernia	3	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0004298	HP:0001539	Omphalocele	3	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly	HP:0040283 - Occasional	172
HP:0004298	HP:0000023	Inguinal hernia	3	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0004298	HP:0000023	Inguinal hernia	3	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040283 - Occasional	172
HP:0004298	HP:0001539	Omphalocele	3	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1	.	172
HP:0004298	HP:0001537	Umbilical hernia	3	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040283 - Occasional	175
HP:0004298	HP:0000023	Inguinal hernia	3	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0004298	HP:0001537	Umbilical hernia	3	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040283 - Occasional	13
HP:0004298	HP:0000023	Inguinal hernia	3	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040283 - Occasional	13
HP:0004298	HP:0000023	Inguinal hernia	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0000023	Inguinal hernia	3	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0004298	HP:0001539	Omphalocele	3	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040283 - Occasional	493
HP:0004298	HP:0001539	Omphalocele	3	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0004298	HP:0001539	Omphalocele	3	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0004298	HP:0001539	Omphalocele	3	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0004298	HP:0001539	Omphalocele	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0004298	HP:0000023	Inguinal hernia	3	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent	493
HP:0004298	HP:0001537	Umbilical hernia	3	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent	493
HP:0004298	HP:0001539	Omphalocele	3	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040282 - Frequent	233
HP:0004298	HP:0000023	Inguinal hernia	3	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0004298	HP:0001537	Umbilical hernia	3	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0004298	HP:0000023	Inguinal hernia	3	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0004298	HP:0000023	Inguinal hernia	3	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0004298	HP:0001539	Omphalocele	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004298	HP:0001539	Omphalocele	3	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0004298	HP:0001537	Umbilical hernia	3	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0004298	HP:0001539	Omphalocele	3	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly	HP:0040283 - Occasional	198
HP:0004298	HP:0001539	Omphalocele	3	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome	.	198
HP:0004298	HP:0001537	Umbilical hernia	3	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0004298	HP:0001539	Omphalocele	3	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0004298	HP:0001537	Umbilical hernia	3	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0004298	HP:0100541	Femoral hernia	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0004298	HP:0000023	Inguinal hernia	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0004298	HP:0000023	Inguinal hernia	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0004298	HP:0001539	Omphalocele	3	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0004298	HP:0000023	Inguinal hernia	3	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0004298	HP:0000023	Inguinal hernia	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	HP:0040283 - Occasional	37
HP:0004298	HP:0001537	Umbilical hernia	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0004298	HP:0001537	Umbilical hernia	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare	37
HP:0004298	HP:0000023	Inguinal hernia	3	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0004298	HP:0000023	Inguinal hernia	3	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0004298	HP:0001537	Umbilical hernia	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0004298	HP:0000023	Inguinal hernia	3	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.	120
HP:0004298	HP:0000023	Inguinal hernia	3	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0004298	HP:0000023	Inguinal hernia	3	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	270
HP:0004298	HP:0001537	Umbilical hernia	3	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0004298	HP:0001537	Umbilical hernia	3	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040283 - Occasional	270
HP:0004298	HP:0000023	Inguinal hernia	3	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0004298	HP:0000023	Inguinal hernia	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0004298	HP:0001537	Umbilical hernia	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0004298	HP:0001537	Umbilical hernia	3	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional	143
HP:0004298	HP:0001537	Umbilical hernia	3	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent	63
HP:0004298	HP:0000023	Inguinal hernia	3	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.	63
HP:0004298	HP:0001537	Umbilical hernia	3	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.	63
HP:0004298	HP:0001537	Umbilical hernia	3	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent	46
HP:0004298	HP:0001537	Umbilical hernia	3	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0004298	HP:0001537	Umbilical hernia	3	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	36
HP:0004298	HP:0000023	Inguinal hernia	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004298	HP:0000023	Inguinal hernia	3	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0004298	HP:0001537	Umbilical hernia	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0004298	HP:0000023	Inguinal hernia	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0004298	HP:0000023	Inguinal hernia	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0004298	HP:0001537	Umbilical hernia	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040281 - Very frequent	240
HP:0004298	HP:0000023	Inguinal hernia	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0004298	HP:0000023	Inguinal hernia	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0004298	HP:0001537	Umbilical hernia	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0004298	HP:0001539	Omphalocele	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0004298	HP:0001537	Umbilical hernia	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0004298	HP:0000023	Inguinal hernia	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0004298	HP:0000023	Inguinal hernia	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004298	HP:0001537	Umbilical hernia	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004298	HP:0001537	Umbilical hernia	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0004298	HP:0001539	Omphalocele	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0004298	HP:0000023	Inguinal hernia	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0004298	HP:0000023	Inguinal hernia	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004298	HP:0001537	Umbilical hernia	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004298	HP:0001537	Umbilical hernia	3	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0004298	HP:0001537	Umbilical hernia	3	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent	18
HP:0004298	HP:0000023	Inguinal hernia	3	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.	18
HP:0004298	HP:0001537	Umbilical hernia	3	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.	18
HP:0004298	HP:0001537	Umbilical hernia	3	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	108
HP:0004298	HP:0000023	Inguinal hernia	3	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures		274
HP:0004298	HP:0001539	Omphalocele	3	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0004298	HP:0001537	Umbilical hernia	3	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0004298	HP:0001537	Umbilical hernia	3	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0004298	HP:0001537	Umbilical hernia	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0004298	HP:0001537	Umbilical hernia	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0004298	HP:0001537	Umbilical hernia	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004298	HP:0000023	Inguinal hernia	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004298	HP:0000023	Inguinal hernia	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004298	HP:0001537	Umbilical hernia	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004298	HP:0000023	Inguinal hernia	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004298	HP:0001537	Umbilical hernia	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004298	HP:0001537	Umbilical hernia	3	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent	54
HP:0004298	HP:0000023	Inguinal hernia	3	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent	54
HP:0004298	HP:0001537	Umbilical hernia	3	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0004298	HP:0000023	Inguinal hernia	3	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	4
HP:0004298	HP:0001537	Umbilical hernia	3	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	4
HP:0004298	HP:0001539	Omphalocele	3	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0004298	HP:0001537	Umbilical hernia	3	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0004298	HP:0001537	Umbilical hernia	3	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0004298	HP:0001537	Umbilical hernia	3	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	6
HP:0004298	HP:0000023	Inguinal hernia	3	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0004298	HP:0001537	Umbilical hernia	3	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0004298	HP:0001537	Umbilical hernia	3	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0004298	HP:0000023	Inguinal hernia	3	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0004298	HP:0001539	Omphalocele	3	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional
HP:0004298	HP:0000023	Inguinal hernia	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0004298	HP:0001537	Umbilical hernia	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0004298	HP:0001537	Umbilical hernia	3	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0004298	HP:0000023	Inguinal hernia	3	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0004298	HP:0001539	Omphalocele	3	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0004298	HP:0001537	Umbilical hernia	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0004298	HP:0000023	Inguinal hernia	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0004298	HP:0000023	Inguinal hernia	3	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0004298	HP:0001537	Umbilical hernia	3	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0004298	HP:0001539	Omphalocele	3	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0004298	HP:0001537	Umbilical hernia	3	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0004298	HP:0001537	Umbilical hernia	3	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0004298	HP:0000023	Inguinal hernia	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0004298	HP:0000023	Inguinal hernia	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0004298	HP:0001537	Umbilical hernia	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0004298	HP:0000023	Inguinal hernia	3	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0004298	HP:0001537	Umbilical hernia	3	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0004298	HP:0001537	Umbilical hernia	3	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0004298	HP:0000023	Inguinal hernia	3	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0004298	HP:0000023	Inguinal hernia	3	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0004298	HP:0001537	Umbilical hernia	3	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.	115
HP:0004298	HP:0000023	Inguinal hernia	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0004298	HP:0001537	Umbilical hernia	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0004298	HP:0001539	Omphalocele	3	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0004298	HP:0001539	Omphalocele	3	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly	.	2
HP:0004298	HP:0001539	Omphalocele	3	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0004298	HP:0000023	Inguinal hernia	3	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	9
HP:0004298	HP:0001537	Umbilical hernia	3	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	9
HP:0004298	HP:0000023	Inguinal hernia	3	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0004298	HP:0001537	Umbilical hernia	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0004298	HP:0000023	Inguinal hernia	3	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	111
HP:0004298	HP:0001537	Umbilical hernia	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004298	HP:0000023	Inguinal hernia	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004298	HP:0001537	Umbilical hernia	3	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	99
HP:0004298	HP:0000023	Inguinal hernia	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0004298	HP:0000023	Inguinal hernia	3	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040282 - Frequent	2
HP:0004298	HP:0001537	Umbilical hernia	3	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	2
HP:0004298	HP:0001539	Omphalocele	3	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040283 - Occasional	2
HP:0004298	HP:0001537	Umbilical hernia	3	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	130
HP:0004298	HP:0000023	Inguinal hernia	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0004298	HP:0001537	Umbilical hernia	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0004298	HP:0001537	Umbilical hernia	3	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	145
HP:0004298	HP:0001537	Umbilical hernia	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0004298	HP:0001537	Umbilical hernia	3	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	127
HP:0004298	HP:0001537	Umbilical hernia	3	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0004298	HP:0001539	Omphalocele	3	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0004298	HP:0001539	Omphalocele	3	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0004298	HP:0000023	Inguinal hernia	3	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	1
HP:0004298	HP:0000023	Inguinal hernia	3	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0004298	HP:0001537	Umbilical hernia	3	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0004298	HP:0000023	Inguinal hernia	3	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0004298	HP:0000023	Inguinal hernia	3	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0004298	HP:0001537	Umbilical hernia	3	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0004298	HP:0000023	Inguinal hernia	3	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	167
HP:0004298	HP:0000023	Inguinal hernia	3	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.	167
HP:0004298	HP:0001537	Umbilical hernia	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	99
HP:0004298	HP:0000023	Inguinal hernia	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0004298	HP:0001537	Umbilical hernia	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0004298	HP:0001537	Umbilical hernia	3	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0004298	HP:0001537	Umbilical hernia	3	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0004298	HP:0000023	Inguinal hernia	3	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID	.
HP:0004298	HP:0000023	Inguinal hernia	3	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0004298	HP:0001537	Umbilical hernia	3	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0004298	HP:0001537	Umbilical hernia	3	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0004298	HP:0001537	Umbilical hernia	3	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0004298	HP:0000023	Inguinal hernia	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001539	Omphalocele	3	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	3	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001539	Omphalocele	3	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0004298	HP:0000023	Inguinal hernia	3	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0004298	HP:0001539	Omphalocele	3	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040282 - Frequent	289
HP:0004298	HP:0001537	Umbilical hernia	3	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040282 - Frequent	289
HP:0004298	HP:0001537	Umbilical hernia	3	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0004298	HP:0001539	Omphalocele	3	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0004298	HP:0000023	Inguinal hernia	3	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0004298	HP:0000023	Inguinal hernia	3	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0004298	HP:0001537	Umbilical hernia	3	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0004298	HP:0000023	Inguinal hernia	3	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0004298	HP:0001537	Umbilical hernia	3	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0004298	HP:0000023	Inguinal hernia	3	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0004298	HP:0001539	Omphalocele	3	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	5
HP:0004298	HP:0000023	Inguinal hernia	3	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0004298	HP:0001537	Umbilical hernia	3	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0004298	HP:0005247	Hypoplasia of the abdominal wall musculature	3	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis	HP:0040281 - Very frequent	55
HP:0004298	HP:0000023	Inguinal hernia	3	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0004298	HP:0000023	Inguinal hernia	3	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0004298	HP:0001537	Umbilical hernia	3	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0004298	HP:0001537	Umbilical hernia	3	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	21
HP:0004298	HP:0001539	Omphalocele	3	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0004298	HP:0000023	Inguinal hernia	3	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0004298	HP:0000023	Inguinal hernia	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0004298	HP:0001539	Omphalocele	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0004298	HP:0001537	Umbilical hernia	3	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0004298	HP:0000023	Inguinal hernia	3	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0004298	HP:0000023	Inguinal hernia	3	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0004298	HP:0000023	Inguinal hernia	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0004298	HP:0001537	Umbilical hernia	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0004298	HP:0001537	Umbilical hernia	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004298	HP:0000023	Inguinal hernia	3	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0004298	HP:0001537	Umbilical hernia	3	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0004298	HP:0000023	Inguinal hernia	3	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0004298	HP:0001537	Umbilical hernia	3	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0004298	HP:0000023	Inguinal hernia	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0004298	HP:0001537	Umbilical hernia	3	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional	1
HP:0004298	HP:0001539	Omphalocele	3	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional	1
HP:0004298	HP:0001537	Umbilical hernia	3	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0004298	HP:0001539	Omphalocele	3	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0004298	HP:0000023	Inguinal hernia	3	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0004298	HP:0001539	Omphalocele	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0004298	HP:0001537	Umbilical hernia	3	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional	13
HP:0004298	HP:0001537	Umbilical hernia	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional	13
HP:0004298	HP:0000023	Inguinal hernia	3	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional	7
HP:0004298	HP:0000023	Inguinal hernia	3	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0004298	HP:0001537	Umbilical hernia	3	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0004298	HP:0001537	Umbilical hernia	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004298	HP:0000023	Inguinal hernia	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004298	HP:0000023	Inguinal hernia	3	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0004298	HP:0001537	Umbilical hernia	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0004298	HP:0001539	Omphalocele	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0004298	HP:0000023	Inguinal hernia	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0004298	HP:0000023	Inguinal hernia	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0004298	HP:0001537	Umbilical hernia	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0004298	HP:0001539	Omphalocele	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0004298	HP:0001537	Umbilical hernia	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004298	HP:0000023	Inguinal hernia	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004298	HP:0000023	Inguinal hernia	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0004298	HP:0001537	Umbilical hernia	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0004298	HP:0001539	Omphalocele	3	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0004298	HP:0001539	Omphalocele	3	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0004298	HP:0001537	Umbilical hernia	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0004298	HP:0001537	Umbilical hernia	3	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	12
HP:0004298	HP:0001539	Omphalocele	3	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional	183
HP:0004298	HP:0001537	Umbilical hernia	3	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0004298	HP:0000023	Inguinal hernia	3	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0004298	HP:0001537	Umbilical hernia	3	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	418
HP:0004298	HP:0001539	Omphalocele	3	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	418
HP:0004298	HP:0000023	Inguinal hernia	3	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0004298	HP:0000023	Inguinal hernia	3	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	166
HP:0004298	HP:0001537	Umbilical hernia	3	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0004298	HP:0000023	Inguinal hernia	3	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0004298	HP:0001539	Omphalocele	3	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	326
HP:0004298	HP:0001537	Umbilical hernia	3	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	326
HP:0004298	HP:0001537	Umbilical hernia	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0004298	HP:0000023	Inguinal hernia	3	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0004298	HP:0000023	Inguinal hernia	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0004298	HP:0001537	Umbilical hernia	3	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.	48
HP:0004298	HP:0000023	Inguinal hernia	3	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.	48
HP:0004298	HP:0000023	Inguinal hernia	3	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY	.	1
HP:0004298	HP:0000023	Inguinal hernia	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0004298	HP:0001537	Umbilical hernia	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0004298	HP:0000023	Inguinal hernia	3	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0004298	HP:0001537	Umbilical hernia	3	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	4
HP:0004298	HP:0001539	Omphalocele	3	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.	9
HP:0004298	HP:0001537	Umbilical hernia	3	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0004298	HP:0000023	Inguinal hernia	3	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0004298	HP:0001537	Umbilical hernia	3	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0004298	HP:0000023	Inguinal hernia	3	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0004298	HP:0000023	Inguinal hernia	3	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0004298	HP:0001537	Umbilical hernia	3	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0004298	HP:0000023	Inguinal hernia	3	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0004298	HP:0001539	Omphalocele	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0004298	HP:0001537	Umbilical hernia	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0004298	HP:0000023	Inguinal hernia	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0004298	HP:0001537	Umbilical hernia	3	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent	90
HP:0004298	HP:0000023	Inguinal hernia	3	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional	452
HP:0004298	HP:0001537	Umbilical hernia	3	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional	452
HP:0004298	HP:0001537	Umbilical hernia	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0004298	HP:0000023	Inguinal hernia	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0004298	HP:0000023	Inguinal hernia	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0004298	HP:0001537	Umbilical hernia	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0004298	HP:0000023	Inguinal hernia	3	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0004298	HP:0001537	Umbilical hernia	3	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0004298	HP:0001537	Umbilical hernia	3	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent	144
HP:0004298	HP:0000023	Inguinal hernia	3	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent	144
HP:0004298	HP:0000023	Inguinal hernia	3	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0004298	HP:0001537	Umbilical hernia	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0004298	HP:0000023	Inguinal hernia	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0004298	HP:0000023	Inguinal hernia	3	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	544
HP:0004298	HP:0001537	Umbilical hernia	3	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.	34
HP:0004298	HP:0001537	Umbilical hernia	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0004298	HP:0000023	Inguinal hernia	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0004298	HP:0002933	Ventral hernia	3	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0004298	HP:0001539	Omphalocele	3	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0004298	HP:0001537	Umbilical hernia	3	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0004298	HP:0001537	Umbilical hernia	3	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2	HP:0040283 - Occasional	88
HP:0004298	HP:0001537	Umbilical hernia	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0004298	HP:0000023	Inguinal hernia	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0004298	HP:0000023	Inguinal hernia	3	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional	1
HP:0004298	HP:0000023	Inguinal hernia	3	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0004298	HP:0000023	Inguinal hernia	3	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0004298	HP:0001537	Umbilical hernia	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0004298	HP:0000023	Inguinal hernia	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0004298	HP:0000023	Inguinal hernia	3	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional	231
HP:0004298	HP:0001539	Omphalocele	3	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional	231
HP:0004298	HP:0001537	Umbilical hernia	3	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0004298	HP:0001537	Umbilical hernia	3	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0004298	HP:0001537	Umbilical hernia	3	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent	63
HP:0004298	HP:0001537	Umbilical hernia	3	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0004298	HP:0000023	Inguinal hernia	3	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0004298	HP:0001539	Omphalocele	3	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	11
HP:0004298	HP:0000023	Inguinal hernia	3	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent	77
HP:0004298	HP:0000023	Inguinal hernia	3	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0004298	HP:0001539	Omphalocele	3	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0004298	HP:0001537	Umbilical hernia	3	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0004298	HP:0001537	Umbilical hernia	3	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0004298	HP:0000023	Inguinal hernia	3	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0004298	HP:0000023	Inguinal hernia	3	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0004298	HP:0001537	Umbilical hernia	3	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0004298	HP:0000023	Inguinal hernia	3	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0004298	HP:0001537	Umbilical hernia	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0004298	HP:0001537	Umbilical hernia	3	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0004298	HP:0000023	Inguinal hernia	3	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040281 - Very frequent	43
HP:0004298	HP:0000023	Inguinal hernia	3	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0004298	HP:0000023	Inguinal hernia	3	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	3
HP:0004298	HP:0001537	Umbilical hernia	3	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0004298	HP:0001537	Umbilical hernia	3	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0004298	HP:0000023	Inguinal hernia	3	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.	4
HP:0004298	HP:0000023	Inguinal hernia	3	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0004298	HP:0000023	Inguinal hernia	3	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0004298	HP:0001537	Umbilical hernia	3	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0004298	HP:0000023	Inguinal hernia	3	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.	45
HP:0004298	HP:0001537	Umbilical hernia	3	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	244
HP:0004298	HP:0000023	Inguinal hernia	3	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0004298	HP:0002933	Ventral hernia	3	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0004298	HP:0000023	Inguinal hernia	3	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0004298	HP:0001537	Umbilical hernia	3	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0004298	HP:0001537	Umbilical hernia	3	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0004298	HP:0000023	Inguinal hernia	3	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0004298	HP:0001539	Omphalocele	3	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0004298	HP:0000023	Inguinal hernia	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0004298	HP:0001539	Omphalocele	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0004298	HP:0001537	Umbilical hernia	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0004298	HP:0001537	Umbilical hernia	3	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0004298	HP:0001539	Omphalocele	3	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0004298	HP:0000023	Inguinal hernia	3	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0004298	HP:0001537	Umbilical hernia	3	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0004298	HP:0000023	Inguinal hernia	3	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0004298	HP:0001539	Omphalocele	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	HP:0040284 - Very rare
HP:0004298	HP:0001537	Umbilical hernia	3	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	HP:0040283 - Occasional	58
HP:0004298	HP:0000023	Inguinal hernia	3	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	HP:0040283 - Occasional	58
HP:0004298	HP:0000023	Inguinal hernia	3	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0004298	HP:0001537	Umbilical hernia	3	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0004298	HP:0001537	Umbilical hernia	3	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0004298	HP:0001537	Umbilical hernia	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0004298	HP:0001539	Omphalocele	3	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0004298	HP:0001537	Umbilical hernia	3	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0004298	HP:0000023	Inguinal hernia	3	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent	6
HP:0004298	HP:0000023	Inguinal hernia	3	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0004298	HP:0100541	Femoral hernia	3	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent	6
HP:0004298	HP:0000023	Inguinal hernia	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0004298	HP:0000023	Inguinal hernia	3	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0004298	HP:0000023	Inguinal hernia	3	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.	53
HP:0004298	HP:0001537	Umbilical hernia	3	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional	31
HP:0004298	HP:0001539	Omphalocele	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0004298	HP:0001537	Umbilical hernia	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0004298	HP:0000023	Inguinal hernia	3	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0004298	HP:0001537	Umbilical hernia	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0004298	HP:0001537	Umbilical hernia	3	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0004298	HP:0001537	Umbilical hernia	3	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0004298	HP:0001537	Umbilical hernia	3	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0004298	HP:0001537	Umbilical hernia	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0000023	Inguinal hernia	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	3	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0004298	HP:0000023	Inguinal hernia	3	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0004298	HP:0001537	Umbilical hernia	3	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	HP:0040283 - Occasional	43
HP:0004298	HP:0001537	Umbilical hernia	3	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040282 - Frequent	43
HP:0004298	HP:0000023	Inguinal hernia	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0004298	HP:0001539	Omphalocele	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0004298	HP:0001537	Umbilical hernia	3	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0004298	HP:0000023	Inguinal hernia	3	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0004298	HP:0001537	Umbilical hernia	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0004298	HP:0000023	Inguinal hernia	3	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0004298	HP:0000023	Inguinal hernia	3	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	3	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0004298	HP:0001537	Umbilical hernia	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0004298	HP:0000023	Inguinal hernia	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0004298	HP:0000023	Inguinal hernia	3	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0004298	HP:0001537	Umbilical hernia	3	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0004298	HP:0000023	Inguinal hernia	3	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	167
HP:0004298	HP:0000023	Inguinal hernia	3	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0004298	HP:0000023	Inguinal hernia	3	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0004298	HP:0000023	Inguinal hernia	3	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0004298	HP:0001537	Umbilical hernia	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0004298	HP:0000023	Inguinal hernia	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	3	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional
HP:0004298	HP:0001539	Omphalocele	3	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional
HP:0004298	HP:0001539	Omphalocele	3	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	3	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0004298	HP:0000023	Inguinal hernia	3	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0004298	HP:0001539	Omphalocele	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0004298	HP:0000023	Inguinal hernia	3	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0004298	HP:0001537	Umbilical hernia	3	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	126
HP:0004298	HP:0001537	Umbilical hernia	3	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	427
HP:0004298	HP:0000023	Inguinal hernia	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0004298	HP:0000023	Inguinal hernia	3	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0004298	HP:0001537	Umbilical hernia	3	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0004298	HP:0000023	Inguinal hernia	3	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional	6
HP:0004298	HP:0000023	Inguinal hernia	3	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0004298	HP:0000023	Inguinal hernia	3	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0004298	HP:0000023	Inguinal hernia	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0004298	HP:0001537	Umbilical hernia	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0004298	HP:0001537	Umbilical hernia	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0004298	HP:0000023	Inguinal hernia	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0004298	HP:0001537	Umbilical hernia	3	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0004298	HP:0000023	Inguinal hernia	3	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0004298	HP:0000023	Inguinal hernia	3	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040283 - Occasional	134
HP:0004298	HP:0001537	Umbilical hernia	3	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040283 - Occasional	134
HP:0004298	HP:0001537	Umbilical hernia	3	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional	53
HP:0004298	HP:0000023	Inguinal hernia	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0004298	HP:0000023	Inguinal hernia	3	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0004298	HP:0001537	Umbilical hernia	3	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	11
HP:0004298	HP:0000023	Inguinal hernia	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0004298	HP:0001537	Umbilical hernia	3	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0004298	HP:0000023	Inguinal hernia	3	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0004298	HP:0001537	Umbilical hernia	3	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	150
HP:0004298	HP:0000023	Inguinal hernia	3	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	150
HP:0004298	HP:0000023	Inguinal hernia	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0004298	HP:0000023	Inguinal hernia	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0004298	HP:0000023	Inguinal hernia	3	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	HP:0040284 - Very rare
HP:0004298	HP:0001537	Umbilical hernia	3	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0004298	HP:0001537	Umbilical hernia	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0004298	HP:0005247	Hypoplasia of the abdominal wall musculature	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0004298	HP:0001537	Umbilical hernia	3	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	3	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0004298	HP:0001537	Umbilical hernia	3	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040282 - Frequent	166
HP:0004298	HP:0100541	Femoral hernia	3	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040282 - Frequent	166
HP:0004298	HP:0001537	Umbilical hernia	3	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0004298	HP:0000023	Inguinal hernia	3	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0004298	HP:0000023	Inguinal hernia	3	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0004298	HP:0100541	Femoral hernia	3	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0004298	HP:0000023	Inguinal hernia	3	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0004298	HP:0001537	Umbilical hernia	3	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0004298	HP:0001537	Umbilical hernia	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0004298	HP:0001537	Umbilical hernia	3	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0004298	HP:0000023	Inguinal hernia	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0004298	HP:0001537	Umbilical hernia	3	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	59
HP:0004298	HP:0001537	Umbilical hernia	3	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1	.	59
HP:0004298	HP:0000023	Inguinal hernia	3	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0004298	HP:0001537	Umbilical hernia	3	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent	81
HP:0004298	HP:0001537	Umbilical hernia	3	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0004298	HP:0000023	Inguinal hernia	3	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0004298	HP:0000023	Inguinal hernia	3	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0004298	HP:0001537	Umbilical hernia	3	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0004298	HP:0000023	Inguinal hernia	3	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0004298	HP:0001537	Umbilical hernia	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0004298	HP:0000023	Inguinal hernia	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0004298	HP:0000023	Inguinal hernia	3	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0004298	HP:0000023	Inguinal hernia	3	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504
HP:0004298	HP:0100541	Femoral hernia	3	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504
HP:0004298	HP:0001537	Umbilical hernia	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0004298	HP:0000023	Inguinal hernia	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0004298	HP:0000023	Inguinal hernia	3	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0004298	HP:0000023	Inguinal hernia	3	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome	HP:0040283 - Occasional	174
HP:0004298	HP:0000023	Inguinal hernia	3	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	174
HP:0004298	HP:0001537	Umbilical hernia	3	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.	3
HP:0004298	HP:0001537	Umbilical hernia	3	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0004298	HP:0001539	Omphalocele	3	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0004298	HP:0001539	Omphalocele	3	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional	6
HP:0004298	HP:0001537	Umbilical hernia	3	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0004298	HP:0000023	Inguinal hernia	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0004298	HP:0001537	Umbilical hernia	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0004298	HP:0000023	Inguinal hernia	3	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0004298	HP:0000023	Inguinal hernia	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	3	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0004298	HP:0000023	Inguinal hernia	3	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	1
HP:0004298	HP:0001537	Umbilical hernia	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0004298	HP:0000023	Inguinal hernia	3	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0004298	HP:0000023	Inguinal hernia	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0004298	HP:0000023	Inguinal hernia	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0004298	HP:0100541	Femoral hernia	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0004298	HP:0000023	Inguinal hernia	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0004298	HP:0001537	Umbilical hernia	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0004298	HP:0000023	Inguinal hernia	3	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0004298	HP:0001537	Umbilical hernia	3	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0004298	HP:0000023	Inguinal hernia	3	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0004298	HP:0001537	Umbilical hernia	3	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0004298	HP:0001537	Umbilical hernia	3	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0004298	HP:0001537	Umbilical hernia	3	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	155
HP:0004298	HP:0001537	Umbilical hernia	3	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0004298	HP:0000023	Inguinal hernia	3	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0004298	HP:0000023	Inguinal hernia	3	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0004298	HP:0000023	Inguinal hernia	3	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0004298	HP:0000023	Inguinal hernia	3	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0004298	HP:0000023	Inguinal hernia	3	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0004298	HP:0000023	Inguinal hernia	3	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0004298	HP:0000023	Inguinal hernia	3	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0004298	HP:0001537	Umbilical hernia	3	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	HP:0040283 - Occasional	253
HP:0004298	HP:0000023	Inguinal hernia	3	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	HP:0040283 - Occasional	253
HP:0004298	HP:0001539	Omphalocele	3	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.	9
HP:0004298	HP:0000023	Inguinal hernia	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0004298	HP:0000023	Inguinal hernia	3	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.	4
HP:0004298	HP:0001539	Omphalocele	3	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0004298	HP:0000023	Inguinal hernia	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0000023	Inguinal hernia	3	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	166
HP:0004298	HP:0000023	Inguinal hernia	3	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0004298	HP:0001537	Umbilical hernia	3	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0004298	HP:0001539	Omphalocele	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0004298	HP:0000023	Inguinal hernia	3	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0004298	HP:0001537	Umbilical hernia	3	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0004298	HP:0000023	Inguinal hernia	3	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0004298	HP:0000023	Inguinal hernia	3	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040282 - Frequent	140
HP:0004298	HP:0001539	Omphalocele	3	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040283 - Occasional	140
HP:0004298	HP:0001537	Umbilical hernia	3	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	140
HP:0004298	HP:0001537	Umbilical hernia	3	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	140
HP:0004298	HP:0001537	Umbilical hernia	3	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	92
HP:0004298	HP:0001537	Umbilical hernia	3	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0004298	HP:0001537	Umbilical hernia	3	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0004298	HP:0100541	Femoral hernia	3	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040282 - Frequent	133
HP:0004298	HP:0001537	Umbilical hernia	3	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040282 - Frequent	133
HP:0004298	HP:0000023	Inguinal hernia	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0004298	HP:0001537	Umbilical hernia	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0004298	HP:0001539	Omphalocele	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0004298	HP:0001539	Omphalocele	3	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.	9
HP:0004298	HP:0001537	Umbilical hernia	3	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.	9
HP:0004298	HP:0001537	Umbilical hernia	3	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0004298	HP:0001537	Umbilical hernia	3	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional	97
HP:0004298	HP:0000023	Inguinal hernia	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0004298	HP:0001539	Omphalocele	3	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	26
HP:0004298	HP:0001539	Omphalocele	3	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	HP:0040283 - Occasional	26
HP:0004298	HP:0001537	Umbilical hernia	3	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0004298	HP:0000023	Inguinal hernia	3	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0004298	HP:0001539	Omphalocele	3	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040283 - Occasional	7
HP:0004298	HP:0001537	Umbilical hernia	3	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0004298	HP:0001539	Omphalocele	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0004298	HP:0002933	Ventral hernia	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.	7
HP:0004298	HP:0000023	Inguinal hernia	3	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0004298	HP:0000023	Inguinal hernia	3	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0004298	HP:0001537	Umbilical hernia	3	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0004298	HP:0000023	Inguinal hernia	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001537	Umbilical hernia	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0004298	HP:0001539	Omphalocele	3	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional	2
HP:0004298	HP:0000023	Inguinal hernia	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004298	HP:0001537	Umbilical hernia	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004298	HP:0000023	Inguinal hernia	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0004298	HP:0000023	Inguinal hernia	3	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95
HP:0004298	HP:0000023	Inguinal hernia	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0004298	HP:0001539	Omphalocele	3	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	136
HP:0004298	HP:0000023	Inguinal hernia	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0004298	HP:0100541	Femoral hernia	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0004298	HP:0001537	Umbilical hernia	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0004298	HP:0001537	Umbilical hernia	3	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0004298	HP:0000023	Inguinal hernia	3	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0004298	HP:0001537	Umbilical hernia	3	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0004298	HP:0000023	Inguinal hernia	3	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0004298	HP:0000023	Inguinal hernia	3	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional	14
HP:0004298	HP:0001539	Omphalocele	3	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional	14
HP:0004298	HP:0001537	Umbilical hernia	3	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	9
HP:0004298	HP:0001537	Umbilical hernia	3	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0004298	HP:0000023	Inguinal hernia	3	ZEB1 CL E G H	6935	11642	OMIM:609141	Corneal dystrophy, posterior polymorphous, 3		8
HP:0004298	HP:0001537	Umbilical hernia	3	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	30
HP:0004298	HP:0001539	Omphalocele	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39