Human Phenotype Ontology

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

Grandparent Node:
Abnormality of the digestive system (HP:0025031)

Parent Node:
Abnormality of the abdominal wall (HP:0004298)

..Starting node
..Abdominal wall defect (HP:0010866)

Term ID:

10866

Name:

Abdominal wall defect

Synonym:

Abdominal wall defect; Congenital anterior abdominal wall defect

Definition:

An incomplete closure of the abdominal wall.

Comments:

Reference:

HP:0010866

Genes and Diseases:

Child Nodes:

........

Gastroschisis (HP:0001543)

........

Hernia of the abdominal wall (HP:0004299)

................... HP:0000023 Inguinal hernia
................... HP:0001537 Umbilical hernia
................... HP:0001539 Omphalocele
................... HP:0002933 Ventral hernia
................... HP:0004872 Incisional hernia
................... HP:0100541 Femoral hernia

........

Cloacal abnormality (HP:0012620)

................... HP:0010475 Cloacal exstrophy
................... HP:0012621 Persistent cloaca

........

Thoracoabdominal wall defect (HP:0100656)

................... HP:0100657 Thoracoabdominal eventration

Sister Nodes:

Abnormal morphology of the abdominal musculature (HP:0010991)

Abnormal umbilicus morphology (HP:0001551)

Exstrophy (HP:0100548)

Prune belly (HP:0004392)

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:0010866	HP:0010866	Abdominal wall defect	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus		245
HP:0010866	HP:0010866	Abdominal wall defect	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0010866	HP:0010866	Abdominal wall defect	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0010866	HP:0010866	Abdominal wall defect	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0010866	HP:0010866	Abdominal wall defect	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0010866	HP:0010866	Abdominal wall defect	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0010866	HP:0010866	Abdominal wall defect	0	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		23
HP:0010866	HP:0010866	Abdominal wall defect	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0010866	HP:0010866	Abdominal wall defect	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0010866	HP:0010866	Abdominal wall defect	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0010866	HP:0010866	Abdominal wall defect	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0010866	HP:0010866	Abdominal wall defect	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0010866	HP:0010866	Abdominal wall defect	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0010866	HP:0010866	Abdominal wall defect	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria		76
HP:0010866	HP:0010866	Abdominal wall defect	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0010866	HP:0010866	Abdominal wall defect	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0010866	HP:0010866	Abdominal wall defect	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0010866	HP:0010866	Abdominal wall defect	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0010866	HP:0010866	Abdominal wall defect	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0010866	HP:0010866	Abdominal wall defect	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0010866	HP:0010866	Abdominal wall defect	0	AMH CL E G H	268	464	ORPHA:2856	Persistent Müllerian duct syndrome		9
HP:0010866	HP:0010866	Abdominal wall defect	0	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II		9
HP:0010866	HP:0010866	Abdominal wall defect	0	AMHR2 CL E G H	269	465	ORPHA:2856	Persistent Müllerian duct syndrome		8
HP:0010866	HP:0010866	Abdominal wall defect	0	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II		8
HP:0010866	HP:0010866	Abdominal wall defect	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0010866	HP:0010866	Abdominal wall defect	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0010866	HP:0010866	Abdominal wall defect	0	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome		13
HP:0010866	HP:0010866	Abdominal wall defect	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0010866	HP:0010866	Abdominal wall defect	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome		125
HP:0010866	HP:0010866	Abdominal wall defect	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias		125
HP:0010866	HP:0010866	Abdominal wall defect	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0010866	HP:0010866	Abdominal wall defect	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010866	HP:0010866	Abdominal wall defect	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0010866	HP:0010866	Abdominal wall defect	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0010866	HP:0010866	Abdominal wall defect	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0010866	HP:0010866	Abdominal wall defect	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome		166
HP:0010866	HP:0010866	Abdominal wall defect	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0010866	HP:0010866	Abdominal wall defect	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia
HP:0010866	HP:0010866	Abdominal wall defect	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0010866	HP:0010866	Abdominal wall defect	0	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0010866	HP:0010866	Abdominal wall defect	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0010866	HP:0010866	Abdominal wall defect	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0010866	HP:0010866	Abdominal wall defect	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0010866	HP:0010866	Abdominal wall defect	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0010866	HP:0010866	Abdominal wall defect	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0010866	HP:0010866	Abdominal wall defect	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0010866	HP:0010866	Abdominal wall defect	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0010866	HP:0010866	Abdominal wall defect	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0010866	HP:0010866	Abdominal wall defect	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0010866	HP:0010866	Abdominal wall defect	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0010866	HP:0010866	Abdominal wall defect	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0010866	HP:0010866	Abdominal wall defect	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0010866	HP:0010866	Abdominal wall defect	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:0010866	HP:0010866	Abdominal wall defect	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0010866	HP:0010866	Abdominal wall defect	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0010866	HP:0010866	Abdominal wall defect	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0010866	HP:0010866	Abdominal wall defect	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0010866	HP:0010866	Abdominal wall defect	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0010866	HP:0010866	Abdominal wall defect	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome		4
HP:0010866	HP:0010866	Abdominal wall defect	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII		49
HP:0010866	HP:0010866	Abdominal wall defect	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0010866	HP:0010866	Abdominal wall defect	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0010866	HP:0010866	Abdominal wall defect	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0010866	HP:0010866	Abdominal wall defect	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0010866	HP:0010866	Abdominal wall defect	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0010866	HP:0010866	Abdominal wall defect	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0010866	HP:0010866	Abdominal wall defect	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0010866	HP:0010866	Abdominal wall defect	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0010866	HP:0010866	Abdominal wall defect	0	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2		7
HP:0010866	HP:0010866	Abdominal wall defect	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0010866	HP:0010866	Abdominal wall defect	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0010866	HP:0010866	Abdominal wall defect	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0010866	HP:0010866	Abdominal wall defect	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0010866	HP:0010866	Abdominal wall defect	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0010866	HP:0010866	Abdominal wall defect	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0010866	HP:0010866	Abdominal wall defect	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0010866	HP:0010866	Abdominal wall defect	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0010866	HP:0010866	Abdominal wall defect	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0010866	HP:0010866	Abdominal wall defect	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0010866	HP:0010866	Abdominal wall defect	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0010866	HP:0010866	Abdominal wall defect	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0010866	HP:0010866	Abdominal wall defect	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0010866	HP:0010866	Abdominal wall defect	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0010866	HP:0010866	Abdominal wall defect	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0010866	HP:0010866	Abdominal wall defect	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0010866	HP:0010866	Abdominal wall defect	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0010866	HP:0010866	Abdominal wall defect	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0010866	HP:0010866	Abdominal wall defect	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0010866	HP:0010866	Abdominal wall defect	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0010866	HP:0010866	Abdominal wall defect	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0010866	HP:0010866	Abdominal wall defect	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0010866	HP:0010866	Abdominal wall defect	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:0010866	HP:0010866	Abdominal wall defect	0	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome		3
HP:0010866	HP:0010866	Abdominal wall defect	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome		45
HP:0010866	HP:0010866	Abdominal wall defect	0	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement		42
HP:0010866	HP:0010866	Abdominal wall defect	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0010866	HP:0010866	Abdominal wall defect	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0010866	HP:0010866	Abdominal wall defect	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0010866	HP:0010866	Abdominal wall defect	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		373
HP:0010866	HP:0010866	Abdominal wall defect	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0010866	HP:0010866	Abdominal wall defect	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0010866	HP:0010866	Abdominal wall defect	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		243
HP:0010866	HP:0010866	Abdominal wall defect	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0010866	HP:0010866	Abdominal wall defect	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form		243
HP:0010866	HP:0010866	Abdominal wall defect	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0010866	HP:0010866	Abdominal wall defect	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0010866	HP:0010866	Abdominal wall defect	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0010866	HP:0010866	Abdominal wall defect	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0010866	HP:0010866	Abdominal wall defect	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0010866	HP:0010866	Abdominal wall defect	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0010866	HP:0010866	Abdominal wall defect	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0010866	HP:0010866	Abdominal wall defect	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0010866	HP:0010866	Abdominal wall defect	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0010866	HP:0010866	Abdominal wall defect	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0010866	HP:0010866	Abdominal wall defect	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0010866	HP:0010866	Abdominal wall defect	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0010866	HP:0010866	Abdominal wall defect	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0010866	HP:0010866	Abdominal wall defect	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0010866	HP:0010866	Abdominal wall defect	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0010866	HP:0010866	Abdominal wall defect	0	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis		2
HP:0010866	HP:0010866	Abdominal wall defect	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0010866	HP:0010866	Abdominal wall defect	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0010866	HP:0010866	Abdominal wall defect	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0010866	HP:0010866	Abdominal wall defect	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0010866	HP:0010866	Abdominal wall defect	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0010866	HP:0010866	Abdominal wall defect	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0010866	HP:0010866	Abdominal wall defect	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0010866	HP:0010866	Abdominal wall defect	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0010866	HP:0010866	Abdominal wall defect	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0010866	HP:0010866	Abdominal wall defect	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0010866	HP:0010866	Abdominal wall defect	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0010866	HP:0010866	Abdominal wall defect	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0010866	HP:0010866	Abdominal wall defect	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2		13
HP:0010866	HP:0010866	Abdominal wall defect	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0010866	HP:0010866	Abdominal wall defect	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0010866	HP:0010866	Abdominal wall defect	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism		121
HP:0010866	HP:0010866	Abdominal wall defect	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0010866	HP:0010866	Abdominal wall defect	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0010866	HP:0010866	Abdominal wall defect	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0010866	HP:0010866	Abdominal wall defect	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0010866	HP:0010866	Abdominal wall defect	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0010866	HP:0010866	Abdominal wall defect	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0010866	HP:0010866	Abdominal wall defect	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0010866	HP:0010866	Abdominal wall defect	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010866	HP:0010866	Abdominal wall defect	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010866	HP:0010866	Abdominal wall defect	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0010866	HP:0010866	Abdominal wall defect	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0010866	HP:0010866	Abdominal wall defect	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0010866	HP:0010866	Abdominal wall defect	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0010866	HP:0010866	Abdominal wall defect	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB		45
HP:0010866	HP:0010866	Abdominal wall defect	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0010866	HP:0010866	Abdominal wall defect	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0010866	HP:0010866	Abdominal wall defect	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0010866	HP:0010866	Abdominal wall defect	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous		3
HP:0010866	HP:0010866	Abdominal wall defect	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0010866	HP:0010866	Abdominal wall defect	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0010866	HP:0010866	Abdominal wall defect	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0010866	HP:0010866	Abdominal wall defect	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0010866	HP:0010866	Abdominal wall defect	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010866	HP:0010866	Abdominal wall defect	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation		62
HP:0010866	HP:0010866	Abdominal wall defect	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0010866	HP:0010866	Abdominal wall defect	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0010866	HP:0010866	Abdominal wall defect	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0010866	HP:0010866	Abdominal wall defect	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0010866	HP:0010866	Abdominal wall defect	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0010866	HP:0010866	Abdominal wall defect	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0010866	HP:0010866	Abdominal wall defect	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0010866	HP:0010866	Abdominal wall defect	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0010866	HP:0010866	Abdominal wall defect	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0010866	HP:0010866	Abdominal wall defect	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus		58
HP:0010866	HP:0010866	Abdominal wall defect	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0010866	HP:0010866	Abdominal wall defect	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0010866	HP:0010866	Abdominal wall defect	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0010866	HP:0010866	Abdominal wall defect	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0010866	HP:0010866	Abdominal wall defect	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0010866	HP:0010866	Abdominal wall defect	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0010866	HP:0010866	Abdominal wall defect	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0010866	HP:0010866	Abdominal wall defect	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0010866	HP:0010866	Abdominal wall defect	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0010866	HP:0010866	Abdominal wall defect	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0010866	HP:0010866	Abdominal wall defect	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0010866	HP:0010866	Abdominal wall defect	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA		63
HP:0010866	HP:0010866	Abdominal wall defect	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0010866	HP:0010866	Abdominal wall defect	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0010866	HP:0010866	Abdominal wall defect	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0010866	HP:0010866	Abdominal wall defect	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0010866	HP:0010866	Abdominal wall defect	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0010866	HP:0010866	Abdominal wall defect	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0010866	HP:0010866	Abdominal wall defect	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0010866	HP:0010866	Abdominal wall defect	0	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly		172
HP:0010866	HP:0010866	Abdominal wall defect	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0010866	HP:0010866	Abdominal wall defect	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia		172
HP:0010866	HP:0010866	Abdominal wall defect	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1		172
HP:0010866	HP:0010866	Abdominal wall defect	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0010866	HP:0010866	Abdominal wall defect	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0010866	HP:0010866	Abdominal wall defect	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0010866	HP:0010866	Abdominal wall defect	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0010866	HP:0010866	Abdominal wall defect	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0010866	HP:0010866	Abdominal wall defect	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0010866	HP:0010866	Abdominal wall defect	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0010866	HP:0010866	Abdominal wall defect	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0010866	HP:0010866	Abdominal wall defect	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0010866	HP:0010866	Abdominal wall defect	0	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome		493
HP:0010866	HP:0010866	Abdominal wall defect	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia		233
HP:0010866	HP:0010866	Abdominal wall defect	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0010866	HP:0010866	Abdominal wall defect	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010866	HP:0010866	Abdominal wall defect	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0010866	HP:0010866	Abdominal wall defect	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010866	HP:0010866	Abdominal wall defect	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0010866	HP:0010866	Abdominal wall defect	0	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly		198
HP:0010866	HP:0010866	Abdominal wall defect	0	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome		198
HP:0010866	HP:0010866	Abdominal wall defect	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0010866	HP:0010866	Abdominal wall defect	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0010866	HP:0010866	Abdominal wall defect	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0010866	HP:0010866	Abdominal wall defect	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0010866	HP:0010866	Abdominal wall defect	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0010866	HP:0010866	Abdominal wall defect	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0010866	HP:0010866	Abdominal wall defect	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0010866	HP:0010866	Abdominal wall defect	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0010866	HP:0010866	Abdominal wall defect	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0010866	HP:0010866	Abdominal wall defect	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0010866	HP:0010866	Abdominal wall defect	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0010866	HP:0010866	Abdominal wall defect	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0010866	HP:0010866	Abdominal wall defect	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0010866	HP:0010866	Abdominal wall defect	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome		270
HP:0010866	HP:0010866	Abdominal wall defect	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0010866	HP:0010866	Abdominal wall defect	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0010866	HP:0010866	Abdominal wall defect	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0010866	HP:0010866	Abdominal wall defect	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia		63
HP:0010866	HP:0010866	Abdominal wall defect	0	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1		63
HP:0010866	HP:0010866	Abdominal wall defect	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia		46
HP:0010866	HP:0010866	Abdominal wall defect	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0010866	HP:0010866	Abdominal wall defect	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0010866	HP:0010866	Abdominal wall defect	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010866	HP:0010866	Abdominal wall defect	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0010866	HP:0010866	Abdominal wall defect	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0010866	HP:0010866	Abdominal wall defect	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0010866	HP:0010866	Abdominal wall defect	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0010866	HP:0010866	Abdominal wall defect	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0010866	HP:0010866	Abdominal wall defect	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0010866	HP:0010866	Abdominal wall defect	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0010866	HP:0010866	Abdominal wall defect	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0010866	HP:0010866	Abdominal wall defect	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0010866	HP:0010866	Abdominal wall defect	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia		18
HP:0010866	HP:0010866	Abdominal wall defect	0	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1		18
HP:0010866	HP:0010866	Abdominal wall defect	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0010866	HP:0010866	Abdominal wall defect	0	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures		274
HP:0010866	HP:0010866	Abdominal wall defect	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0010866	HP:0010866	Abdominal wall defect	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0010866	HP:0010866	Abdominal wall defect	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0010866	HP:0010866	Abdominal wall defect	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0010866	HP:0010866	Abdominal wall defect	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0010866	HP:0010866	Abdominal wall defect	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0010866	HP:0010866	Abdominal wall defect	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0010866	HP:0010866	Abdominal wall defect	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7		54
HP:0010866	HP:0010866	Abdominal wall defect	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0010866	HP:0010866	Abdominal wall defect	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia		4
HP:0010866	HP:0010866	Abdominal wall defect	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication		4
HP:0010866	HP:0010866	Abdominal wall defect	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0010866	HP:0010866	Abdominal wall defect	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0010866	HP:0010866	Abdominal wall defect	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0010866	HP:0010866	Abdominal wall defect	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0010866	HP:0010866	Abdominal wall defect	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0010866	HP:0010866	Abdominal wall defect	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0010866	HP:0010866	Abdominal wall defect	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0010866	HP:0010866	Abdominal wall defect	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0010866	HP:0010866	Abdominal wall defect	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0010866	HP:0010866	Abdominal wall defect	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0010866	HP:0010866	Abdominal wall defect	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0010866	HP:0010866	Abdominal wall defect	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0010866	HP:0010866	Abdominal wall defect	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0010866	HP:0010866	Abdominal wall defect	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040283 - Occasional
HP:0010866	HP:0010866	Abdominal wall defect	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0010866	HP:0010866	Abdominal wall defect	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0010866	HP:0010866	Abdominal wall defect	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0010866	HP:0010866	Abdominal wall defect	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0010866	HP:0010866	Abdominal wall defect	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0010866	HP:0010866	Abdominal wall defect	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0010866	HP:0010866	Abdominal wall defect	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0010866	HP:0010866	Abdominal wall defect	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0010866	HP:0010866	Abdominal wall defect	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0010866	HP:0010866	Abdominal wall defect	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0010866	HP:0010866	Abdominal wall defect	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0010866	HP:0010866	Abdominal wall defect	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia		9
HP:0010866	HP:0010866	Abdominal wall defect	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication		9
HP:0010866	HP:0010866	Abdominal wall defect	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0010866	HP:0010866	Abdominal wall defect	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0010866	HP:0010866	Abdominal wall defect	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0010866	HP:0010866	Abdominal wall defect	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip		99
HP:0010866	HP:0010866	Abdominal wall defect	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0010866	HP:0010866	Abdominal wall defect	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0010866	HP:0010866	Abdominal wall defect	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0010866	HP:0010866	Abdominal wall defect	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0010866	HP:0010866	Abdominal wall defect	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0010866	HP:0010866	Abdominal wall defect	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0010866	HP:0010866	Abdominal wall defect	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus		127
HP:0010866	HP:0010866	Abdominal wall defect	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0010866	HP:0010866	Abdominal wall defect	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0010866	HP:0010866	Abdominal wall defect	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0010866	HP:0010866	Abdominal wall defect	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia		1
HP:0010866	HP:0010866	Abdominal wall defect	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0010866	HP:0010866	Abdominal wall defect	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0010866	HP:0010866	Abdominal wall defect	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0010866	HP:0010866	Abdominal wall defect	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0010866	HP:0010866	Abdominal wall defect	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0010866	HP:0010866	Abdominal wall defect	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0010866	HP:0010866	Abdominal wall defect	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0010866	HP:0010866	Abdominal wall defect	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome		1
HP:0010866	HP:0010866	Abdominal wall defect	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0010866	HP:0010866	Abdominal wall defect	0	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0010866	HP:0010866	Abdominal wall defect	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0010866	HP:0010866	Abdominal wall defect	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0010866	HP:0010866	Abdominal wall defect	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0010866	HP:0010866	Abdominal wall defect	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0010866	HP:0010866	Abdominal wall defect	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0010866	HP:0010866	Abdominal wall defect	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0010866	HP:0010866	Abdominal wall defect	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome		289
HP:0010866	HP:0010866	Abdominal wall defect	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0010866	HP:0010866	Abdominal wall defect	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0010866	HP:0010866	Abdominal wall defect	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0010866	HP:0010866	Abdominal wall defect	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0010866	HP:0010866	Abdominal wall defect	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0010866	HP:0010866	Abdominal wall defect	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias		5
HP:0010866	HP:0010866	Abdominal wall defect	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0010866	HP:0010866	Abdominal wall defect	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0010866	HP:0010866	Abdominal wall defect	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0010866	HP:0010866	Abdominal wall defect	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0010866	HP:0010866	Abdominal wall defect	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome		21
HP:0010866	HP:0010866	Abdominal wall defect	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0010866	HP:0010866	Abdominal wall defect	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0010866	HP:0010866	Abdominal wall defect	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0010866	HP:0010866	Abdominal wall defect	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0010866	HP:0010866	Abdominal wall defect	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0010866	HP:0010866	Abdominal wall defect	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome		950
HP:0010866	HP:0010866	Abdominal wall defect	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0010866	HP:0010866	Abdominal wall defect	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0010866	HP:0010866	Abdominal wall defect	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0010866	HP:0010866	Abdominal wall defect	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0010866	HP:0010866	Abdominal wall defect	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0010866	HP:0010866	Abdominal wall defect	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0010866	HP:0010866	Abdominal wall defect	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0010866	HP:0010866	Abdominal wall defect	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0010866	HP:0010866	Abdominal wall defect	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0010866	HP:0010866	Abdominal wall defect	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome		13
HP:0010866	HP:0010866	Abdominal wall defect	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0010866	HP:0010866	Abdominal wall defect	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome		7
HP:0010866	HP:0010866	Abdominal wall defect	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0010866	HP:0010866	Abdominal wall defect	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0010866	HP:0010866	Abdominal wall defect	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0010866	HP:0010866	Abdominal wall defect	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0010866	HP:0010866	Abdominal wall defect	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010866	HP:0010866	Abdominal wall defect	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0010866	HP:0010866	Abdominal wall defect	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0010866	HP:0010866	Abdominal wall defect	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010866	HP:0010866	Abdominal wall defect	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		2
HP:0010866	HP:0010866	Abdominal wall defect	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		64
HP:0010866	HP:0010866	Abdominal wall defect	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0010866	HP:0010866	Abdominal wall defect	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip		12
HP:0010866	HP:0010866	Abdominal wall defect	0	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly		183
HP:0010866	HP:0010866	Abdominal wall defect	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0010866	HP:0010866	Abdominal wall defect	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0010866	HP:0010866	Abdominal wall defect	0	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		418
HP:0010866	HP:0010866	Abdominal wall defect	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0010866	HP:0010866	Abdominal wall defect	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0010866	HP:0010866	Abdominal wall defect	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0010866	HP:0010866	Abdominal wall defect	0	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		326
HP:0010866	HP:0010866	Abdominal wall defect	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0010866	HP:0010866	Abdominal wall defect	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0010866	HP:0010866	Abdominal wall defect	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0010866	HP:0010866	Abdominal wall defect	0	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY		1
HP:0010866	HP:0010866	Abdominal wall defect	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0010866	HP:0010866	Abdominal wall defect	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0010866	HP:0010866	Abdominal wall defect	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip		4
HP:0010866	HP:0010866	Abdominal wall defect	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0010866	HP:0010866	Abdominal wall defect	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0010866	HP:0010866	Abdominal wall defect	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2		43
HP:0010866	HP:0010866	Abdominal wall defect	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0010866	HP:0010866	Abdominal wall defect	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0010866	HP:0010866	Abdominal wall defect	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0010866	HP:0010866	Abdominal wall defect	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0010866	HP:0010866	Abdominal wall defect	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0010866	HP:0010866	Abdominal wall defect	0	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia		90
HP:0010866	HP:0010866	Abdominal wall defect	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome		217
HP:0010866	HP:0010866	Abdominal wall defect	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0010866	HP:0010866	Abdominal wall defect	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0010866	HP:0010866	Abdominal wall defect	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0010866	HP:0010866	Abdominal wall defect	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0010866	HP:0010866	Abdominal wall defect	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0010866	HP:0010866	Abdominal wall defect	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0010866	HP:0010866	Abdominal wall defect	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0010866	HP:0010866	Abdominal wall defect	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0010866	HP:0010866	Abdominal wall defect	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0010866	HP:0010866	Abdominal wall defect	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0010866	HP:0010866	Abdominal wall defect	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2		2
HP:0010866	HP:0010866	Abdominal wall defect	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0010866	HP:0010866	Abdominal wall defect	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0010866	HP:0010866	Abdominal wall defect	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0010866	HP:0010866	Abdominal wall defect	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0010866	HP:0010866	Abdominal wall defect	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0010866	HP:0010866	Abdominal wall defect	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII		43
HP:0010866	HP:0010866	Abdominal wall defect	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0010866	HP:0010866	Abdominal wall defect	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome		231
HP:0010866	HP:0010866	Abdominal wall defect	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome		231
HP:0010866	HP:0010866	Abdominal wall defect	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0010866	HP:0010866	Abdominal wall defect	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0010866	HP:0010866	Abdominal wall defect	0	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia		63
HP:0010866	HP:0010866	Abdominal wall defect	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form		37
HP:0010866	HP:0010866	Abdominal wall defect	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		11
HP:0010866	HP:0010866	Abdominal wall defect	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0010866	HP:0010866	Abdominal wall defect	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0010866	HP:0010866	Abdominal wall defect	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0010866	HP:0010866	Abdominal wall defect	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy		2
HP:0010866	HP:0010866	Abdominal wall defect	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0010866	HP:0010866	Abdominal wall defect	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0010866	HP:0010866	Abdominal wall defect	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010866	HP:0010866	Abdominal wall defect	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0010866	HP:0010866	Abdominal wall defect	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0010866	HP:0010866	Abdominal wall defect	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome		9
HP:0010866	HP:0010866	Abdominal wall defect	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome		43
HP:0010866	HP:0010866	Abdominal wall defect	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0010866	HP:0010866	Abdominal wall defect	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0010866	HP:0010866	Abdominal wall defect	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040283 - Occasional
HP:0010866	HP:0010866	Abdominal wall defect	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0010866	HP:0010866	Abdominal wall defect	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0010866	HP:0010866	Abdominal wall defect	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0010866	HP:0010866	Abdominal wall defect	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0010866	HP:0010866	Abdominal wall defect	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2		45
HP:0010866	HP:0010866	Abdominal wall defect	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy		244
HP:0010866	HP:0010866	Abdominal wall defect	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0010866	HP:0010866	Abdominal wall defect	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0010866	HP:0010866	Abdominal wall defect	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0010866	HP:0010866	Abdominal wall defect	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0010866	HP:0010866	Abdominal wall defect	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0010866	HP:0010866	Abdominal wall defect	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0010866	HP:0010866	Abdominal wall defect	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010866	HP:0010866	Abdominal wall defect	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities		2
HP:0010866	HP:0010866	Abdominal wall defect	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0010866	HP:0010866	Abdominal wall defect	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0010866	HP:0010866	Abdominal wall defect	0	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2		58
HP:0010866	HP:0010866	Abdominal wall defect	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0010866	HP:0010866	Abdominal wall defect	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0010866	HP:0010866	Abdominal wall defect	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0010866	HP:0010866	Abdominal wall defect	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0010866	HP:0010866	Abdominal wall defect	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0010866	HP:0010866	Abdominal wall defect	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0010866	HP:0010866	Abdominal wall defect	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0010866	HP:0010866	Abdominal wall defect	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0010866	HP:0010866	Abdominal wall defect	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0010866	HP:0010866	Abdominal wall defect	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0010866	HP:0010866	Abdominal wall defect	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0010866	HP:0010866	Abdominal wall defect	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome		31
HP:0010866	HP:0010866	Abdominal wall defect	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0010866	HP:0010866	Abdominal wall defect	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0010866	HP:0010866	Abdominal wall defect	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0010866	HP:0010866	Abdominal wall defect	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0010866	HP:0010866	Abdominal wall defect	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0010866	HP:0010866	Abdominal wall defect	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0010866	HP:0010866	Abdominal wall defect	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0010866	HP:0010866	Abdominal wall defect	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0010866	HP:0010866	Abdominal wall defect	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0010866	HP:0010866	Abdominal wall defect	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome		43
HP:0010866	HP:0010866	Abdominal wall defect	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0010866	HP:0010866	Abdominal wall defect	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0010866	HP:0010866	Abdominal wall defect	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0010866	HP:0010866	Abdominal wall defect	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0010866	HP:0010866	Abdominal wall defect	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0010866	HP:0010866	Abdominal wall defect	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0010866	HP:0010866	Abdominal wall defect	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0010866	HP:0010866	Abdominal wall defect	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0010866	HP:0010866	Abdominal wall defect	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0010866	HP:0010866	Abdominal wall defect	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0010866	HP:0010866	Abdominal wall defect	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0010866	HP:0010866	Abdominal wall defect	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0010866	HP:0010866	Abdominal wall defect	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0010866	HP:0010866	Abdominal wall defect	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0010866	HP:0010866	Abdominal wall defect	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0010866	HP:0010866	Abdominal wall defect	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0010866	HP:0010866	Abdominal wall defect	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0010866	HP:0010866	Abdominal wall defect	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy		126
HP:0010866	HP:0010866	Abdominal wall defect	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy		427
HP:0010866	HP:0010866	Abdominal wall defect	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0010866	HP:0010866	Abdominal wall defect	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p		6
HP:0010866	HP:0010866	Abdominal wall defect	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X		52
HP:0010866	HP:0010866	Abdominal wall defect	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0010866	HP:0010866	Abdominal wall defect	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0010866	HP:0010866	Abdominal wall defect	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0010866	HP:0010866	Abdominal wall defect	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0010866	HP:0010866	Abdominal wall defect	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0010866	HP:0010866	Abdominal wall defect	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome		134
HP:0010866	HP:0010866	Abdominal wall defect	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0010866	HP:0010866	Abdominal wall defect	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0010866	HP:0010866	Abdominal wall defect	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency		2
HP:0010866	HP:0010866	Abdominal wall defect	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy		11
HP:0010866	HP:0010866	Abdominal wall defect	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0010866	HP:0010866	Abdominal wall defect	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0010866	HP:0010866	Abdominal wall defect	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0010866	HP:0010866	Abdominal wall defect	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0010866	HP:0010866	Abdominal wall defect	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0010866	HP:0010866	Abdominal wall defect	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0010866	HP:0010866	Abdominal wall defect	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0010866	HP:0010866	Abdominal wall defect	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0010866	HP:0010866	Abdominal wall defect	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B		166
HP:0010866	HP:0010866	Abdominal wall defect	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB		166
HP:0010866	HP:0010866	Abdominal wall defect	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0010866	HP:0010866	Abdominal wall defect	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0010866	HP:0010866	Abdominal wall defect	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0010866	HP:0010866	Abdominal wall defect	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0010866	HP:0010866	Abdominal wall defect	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0010866	HP:0010866	Abdominal wall defect	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0010866	HP:0010866	Abdominal wall defect	0	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1		59
HP:0010866	HP:0010866	Abdominal wall defect	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0010866	HP:0010866	Abdominal wall defect	0	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia		81
HP:0010866	HP:0010866	Abdominal wall defect	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0010866	HP:0010866	Abdominal wall defect	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0010866	HP:0010866	Abdominal wall defect	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0010866	HP:0010866	Abdominal wall defect	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0010866	HP:0010866	Abdominal wall defect	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0010866	HP:0010866	Abdominal wall defect	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0010866	HP:0010866	Abdominal wall defect	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome		504
HP:0010866	HP:0010866	Abdominal wall defect	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0010866	HP:0010866	Abdominal wall defect	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0010866	HP:0010866	Abdominal wall defect	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0010866	HP:0010866	Abdominal wall defect	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome		174
HP:0010866	HP:0010866	Abdominal wall defect	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism		3
HP:0010866	HP:0010866	Abdominal wall defect	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0010866	HP:0010866	Abdominal wall defect	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0010866	HP:0010866	Abdominal wall defect	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0010866	HP:0010866	Abdominal wall defect	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0010866	HP:0010866	Abdominal wall defect	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0010866	HP:0010866	Abdominal wall defect	0	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis	HP:0040283 - Occasional	19
HP:0010866	HP:0010866	Abdominal wall defect	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0010866	HP:0010866	Abdominal wall defect	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0010866	HP:0010866	Abdominal wall defect	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0010866	HP:0010866	Abdominal wall defect	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0010866	HP:0010866	Abdominal wall defect	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0010866	HP:0010866	Abdominal wall defect	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0010866	HP:0010866	Abdominal wall defect	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0010866	HP:0010866	Abdominal wall defect	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0010866	HP:0010866	Abdominal wall defect	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0010866	HP:0010866	Abdominal wall defect	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0010866	HP:0010866	Abdominal wall defect	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0010866	HP:0010866	Abdominal wall defect	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0010866	HP:0010866	Abdominal wall defect	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome		6
HP:0010866	HP:0010866	Abdominal wall defect	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0010866	HP:0010866	Abdominal wall defect	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0010866	HP:0010866	Abdominal wall defect	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0010866	HP:0010866	Abdominal wall defect	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0010866	HP:0010866	Abdominal wall defect	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0010866	HP:0010866	Abdominal wall defect	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0010866	HP:0010866	Abdominal wall defect	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0010866	HP:0010866	Abdominal wall defect	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6		9
HP:0010866	HP:0010866	Abdominal wall defect	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0010866	HP:0010866	Abdominal wall defect	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI		4
HP:0010866	HP:0010866	Abdominal wall defect	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0010866	HP:0010866	Abdominal wall defect	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0010866	HP:0010866	Abdominal wall defect	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0010866	HP:0010866	Abdominal wall defect	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0010866	HP:0010866	Abdominal wall defect	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0010866	HP:0010866	Abdominal wall defect	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0010866	HP:0010866	Abdominal wall defect	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0010866	HP:0010866	Abdominal wall defect	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip		140
HP:0010866	HP:0010866	Abdominal wall defect	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0010866	HP:0010866	Abdominal wall defect	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0010866	HP:0010866	Abdominal wall defect	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy		1
HP:0010866	HP:0010866	Abdominal wall defect	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A		133
HP:0010866	HP:0010866	Abdominal wall defect	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0010866	HP:0010866	Abdominal wall defect	0	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4		9
HP:0010866	HP:0010866	Abdominal wall defect	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0010866	HP:0010866	Abdominal wall defect	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0010866	HP:0010866	Abdominal wall defect	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0010866	HP:0010866	Abdominal wall defect	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		26
HP:0010866	HP:0010866	Abdominal wall defect	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0010866	HP:0010866	Abdominal wall defect	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0010866	HP:0010866	Abdominal wall defect	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0010866	HP:0010866	Abdominal wall defect	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0010866	HP:0010866	Abdominal wall defect	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0010866	HP:0010866	Abdominal wall defect	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0010866	HP:0010866	Abdominal wall defect	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0010866	HP:0010866	Abdominal wall defect	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly		2
HP:0010866	HP:0010866	Abdominal wall defect	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0010866	HP:0010866	Abdominal wall defect	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0010866	HP:0010866	Abdominal wall defect	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0010866	HP:0010866	Abdominal wall defect	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0010866	HP:0010866	Abdominal wall defect	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0010866	HP:0010866	Abdominal wall defect	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0010866	HP:0010866	Abdominal wall defect	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0010866	HP:0010866	Abdominal wall defect	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0010866	HP:0010866	Abdominal wall defect	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0010866	HP:0010866	Abdominal wall defect	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0010866	HP:0010866	Abdominal wall defect	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome		14
HP:0010866	HP:0010866	Abdominal wall defect	0	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome		14
HP:0010866	HP:0010866	Abdominal wall defect	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0010866	HP:0010866	Abdominal wall defect	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0010866	HP:0010866	Abdominal wall defect	0	ZEB1 CL E G H	6935	11642	OMIM:609141	Corneal dystrophy, posterior polymorphous, 3		8
HP:0010866	HP:0010866	Abdominal wall defect	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus		30
HP:0010866	HP:0010866	Abdominal wall defect	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0010866	HP:0100656	Thoracoabdominal wall defect	1	CL E G H
HP:0010866	HP:0012620	Cloacal abnormality	1	CL E G H
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus		245
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		23
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria		76
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	AMH CL E G H	268	464	ORPHA:2856	Persistent Müllerian duct syndrome		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	AMHR2 CL E G H	269	465	ORPHA:2856	Persistent Müllerian duct syndrome		8
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II		8
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome		13
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome		125
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias		125
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome		166
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0010866	HP:0004299	Hernia of the abdominal wall	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:0010866	HP:0004299	Hernia of the abdominal wall	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome		4
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII		49
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2		7
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0010866	HP:0004299	Hernia of the abdominal wall	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:0010866	HP:0004299	Hernia of the abdominal wall	1	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome		45
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement		42
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		373
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		243
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form		243
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0010866	HP:0001543	Gastroschisis	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	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:0010866	HP:0004299	Hernia of the abdominal wall	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2		13
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism		121
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB		45
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation		62
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus		58
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA		63
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly		172
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia		172
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1		172
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome		493
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia		233
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly		198
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome		198
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome		270
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia		63
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1		63
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia		46
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia		18
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1		18
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures		274
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7		54
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia		4
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication		4
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip		99
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus		127
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome		289
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias		5
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome		21
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040282 - Frequent	950
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	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:0010866	HP:0004299	Hernia of the abdominal wall	1	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome		13
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome		7
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		64
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip		12
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly		183
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		418
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		326
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip		4
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2		43
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia		90
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional	217
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII		43
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome		231
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome		231
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia		63
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form		37
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		11
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome		43
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2		45
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy		244
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2		58
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome		31
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome		43
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy		126
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy		427
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p		6
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X		52
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0010866	HP:0001543	Gastroschisis	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome		134
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy		11
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B		166
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB		166
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1		59
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia		81
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome		504
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome		174
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism		3
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome		6
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI		4
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip		140
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy		1
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A		133
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		26
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly		2
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0010866	HP:0001543	Gastroschisis	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome		14
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome		14
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ZEB1 CL E G H	6935	11642	OMIM:609141	Corneal dystrophy, posterior polymorphous, 3		8
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus		30
HP:0010866	HP:0004299	Hernia of the abdominal wall	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0010866	HP:0100657	Thoracoabdominal eventration	2	CL E G H
HP:0010866	HP:0012621	Persistent cloaca	2	CL E G H
HP:0010866	HP:0010475	Cloacal exstrophy	2	CL E G H
HP:0010866	HP:0001537	Umbilical hernia	2	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	245
HP:0010866	HP:0001537	Umbilical hernia	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0010866	HP:0001537	Umbilical hernia	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0010866	HP:0000023	Inguinal hernia	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0010866	HP:0000023	Inguinal hernia	2	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0010866	HP:0001537	Umbilical hernia	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional	23
HP:0010866	HP:0001537	Umbilical hernia	2	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	23
HP:0010866	HP:0001539	Omphalocele	2	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	23
HP:0010866	HP:0000023	Inguinal hernia	2	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent	165
HP:0010866	HP:0100541	Femoral hernia	2	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent	165
HP:0010866	HP:0000023	Inguinal hernia	2	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0010866	HP:0001537	Umbilical hernia	2	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0010866	HP:0100541	Femoral hernia	2	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent	72
HP:0010866	HP:0000023	Inguinal hernia	2	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent	72
HP:0010866	HP:0000023	Inguinal hernia	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare	47
HP:0010866	HP:0001537	Umbilical hernia	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare	47
HP:0010866	HP:0002933	Ventral hernia	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040282 - Frequent
HP:0010866	HP:0000023	Inguinal hernia	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0010866	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:0010866	HP:0001537	Umbilical hernia	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0010866	HP:0002933	Ventral hernia	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0010866	HP:0000023	Inguinal hernia	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0010866	HP:0000023	Inguinal hernia	2	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040283 - Occasional	76
HP:0010866	HP:0001537	Umbilical hernia	2	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent	76
HP:0010866	HP:0001537	Umbilical hernia	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0010866	HP:0000023	Inguinal hernia	2	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional	89
HP:0010866	HP:0001537	Umbilical hernia	2	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0010866	HP:0000023	Inguinal hernia	2	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0010866	HP:0001539	Omphalocele	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0010866	HP:0001539	Omphalocele	2	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0010866	HP:0001539	Omphalocele	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	HP:0040284 - Very rare	34
HP:0010866	HP:0000023	Inguinal hernia	2	AMH CL E G H	268	464	ORPHA:2856	Persistent Müllerian duct syndrome	HP:0040282 - Frequent	9
HP:0010866	HP:0000023	Inguinal hernia	2	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II		9
HP:0010866	HP:0000023	Inguinal hernia	2	AMHR2 CL E G H	269	465	ORPHA:2856	Persistent Müllerian duct syndrome	HP:0040282 - Frequent	8
HP:0010866	HP:0000023	Inguinal hernia	2	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II		8
HP:0010866	HP:0001537	Umbilical hernia	2	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040282 - Frequent	8
HP:0010866	HP:0001537	Umbilical hernia	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0010866	HP:0000023	Inguinal hernia	2	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:0010866	HP:0000023	Inguinal hernia	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0010866	HP:0001537	Umbilical hernia	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0010866	HP:0000023	Inguinal hernia	2	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0010866	HP:0001539	Omphalocele	2	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	125
HP:0010866	HP:0000023	Inguinal hernia	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0010866	HP:0000023	Inguinal hernia	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0010866	HP:0001537	Umbilical hernia	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0010866	HP:0000023	Inguinal hernia	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0010866	HP:0000023	Inguinal hernia	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0010866	HP:0001537	Umbilical hernia	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0010866	HP:0001537	Umbilical hernia	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0010866	HP:0000023	Inguinal hernia	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0010866	HP:0000023	Inguinal hernia	2	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040283 - Occasional	166
HP:0010866	HP:0001537	Umbilical hernia	2	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0010866	HP:0001537	Umbilical hernia	2	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent
HP:0010866	HP:0000023	Inguinal hernia	2	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0010866	HP:0001537	Umbilical hernia	2	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0010866	HP:0000023	Inguinal hernia	2	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0010866	HP:0000023	Inguinal hernia	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	140
HP:0010866	HP:0000023	Inguinal hernia	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0010866	HP:0000023	Inguinal hernia	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0010866	HP:0000023	Inguinal hernia	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0010866	HP:0001537	Umbilical hernia	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0010866	HP:0001537	Umbilical hernia	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0010866	HP:0000023	Inguinal hernia	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	3
HP:0010866	HP:0000023	Inguinal hernia	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0010866	HP:0000023	Inguinal hernia	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	2
HP:0010866	HP:0001537	Umbilical hernia	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent	192
HP:0010866	HP:0000023	Inguinal hernia	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent	192
HP:0010866	HP:0100541	Femoral hernia	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0010866	HP:0000023	Inguinal hernia	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0010866	HP:0001537	Umbilical hernia	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0010866	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:0010866	HP:0000023	Inguinal hernia	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0010866	HP:0000023	Inguinal hernia	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0010866	HP:0001537	Umbilical hernia	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0010866	HP:0000023	Inguinal hernia	2	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:0010866	HP:0001537	Umbilical hernia	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0010866	HP:0000023	Inguinal hernia	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0010866	HP:0001537	Umbilical hernia	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0010866	HP:0000023	Inguinal hernia	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010866	HP:0001537	Umbilical hernia	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010866	HP:0001537	Umbilical hernia	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0010866	HP:0001537	Umbilical hernia	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010866	HP:0001537	Umbilical hernia	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	HP:0040283 - Occasional	101
HP:0010866	HP:0000023	Inguinal hernia	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0010866	HP:0001539	Omphalocele	2	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional	4
HP:0010866	HP:0001537	Umbilical hernia	2	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional	49
HP:0010866	HP:0000023	Inguinal hernia	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0010866	HP:0000023	Inguinal hernia	2	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0010866	HP:0001537	Umbilical hernia	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0010866	HP:0001537	Umbilical hernia	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0010866	HP:0000023	Inguinal hernia	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0010866	HP:0001537	Umbilical hernia	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0010866	HP:0001537	Umbilical hernia	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0010866	HP:0000023	Inguinal hernia	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010866	HP:0001537	Umbilical hernia	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0010866	HP:0001537	Umbilical hernia	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0010866	HP:0000023	Inguinal hernia	2	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	.	7
HP:0010866	HP:0001537	Umbilical hernia	2	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	.	7
HP:0010866	HP:0001537	Umbilical hernia	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0010866	HP:0001537	Umbilical hernia	2	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	118
HP:0010866	HP:0000023	Inguinal hernia	2	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.	242
HP:0010866	HP:0000023	Inguinal hernia	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	247
HP:0010866	HP:0001537	Umbilical hernia	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0010866	HP:0000023	Inguinal hernia	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0010866	HP:0001539	Omphalocele	2	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0010866	HP:0001539	Omphalocele	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040283 - Occasional	83
HP:0010866	HP:0000023	Inguinal hernia	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0010866	HP:0000023	Inguinal hernia	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0010866	HP:0001537	Umbilical hernia	2	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	4
HP:0010866	HP:0001537	Umbilical hernia	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040284 - Very rare	2
HP:0010866	HP:0001537	Umbilical hernia	2	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	405
HP:0010866	HP:0001539	Omphalocele	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0010866	HP:0000023	Inguinal hernia	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0010866	HP:0001539	Omphalocele	2	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0010866	HP:0001537	Umbilical hernia	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0010866	HP:0001537	Umbilical hernia	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0010866	HP:0001539	Omphalocele	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0010866	HP:0000023	Inguinal hernia	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	68
HP:0010866	HP:0001537	Umbilical hernia	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0010866	HP:0000023	Inguinal hernia	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0010866	HP:0001537	Umbilical hernia	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0010866	HP:0001537	Umbilical hernia	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0010866	HP:0000023	Inguinal hernia	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040284 - Very rare	27
HP:0010866	HP:0000023	Inguinal hernia	2	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:0010866	HP:0001539	Omphalocele	2	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome		3
HP:0010866	HP:0000023	Inguinal hernia	2	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040284 - Very rare	45
HP:0010866	HP:0000023	Inguinal hernia	2	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:0010866	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:0010866	HP:0001537	Umbilical hernia	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010866	HP:0001539	Omphalocele	2	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional	215
HP:0010866	HP:0001539	Omphalocele	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0010866	HP:0001539	Omphalocele	2	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional	222
HP:0010866	HP:0100541	Femoral hernia	2	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0010866	HP:0000023	Inguinal hernia	2	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0010866	HP:0001537	Umbilical hernia	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0010866	HP:0000023	Inguinal hernia	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0010866	HP:0004872	Incisional hernia	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0010866	HP:0000023	Inguinal hernia	2	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0010866	HP:0100541	Femoral hernia	2	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0010866	HP:0000023	Inguinal hernia	2	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0010866	HP:0000023	Inguinal hernia	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0010866	HP:0000023	Inguinal hernia	2	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0010866	HP:0001537	Umbilical hernia	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0010866	HP:0000023	Inguinal hernia	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0010866	HP:0000023	Inguinal hernia	2	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0010866	HP:0000023	Inguinal hernia	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0010866	HP:0000023	Inguinal hernia	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0010866	HP:0001537	Umbilical hernia	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0010866	HP:0001537	Umbilical hernia	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0010866	HP:0000023	Inguinal hernia	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0010866	HP:0004872	Incisional hernia	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0010866	HP:0001537	Umbilical hernia	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.	660
HP:0010866	HP:0000023	Inguinal hernia	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0010866	HP:0000023	Inguinal hernia	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0010866	HP:0001537	Umbilical hernia	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0010866	HP:0004872	Incisional hernia	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0010866	HP:0001537	Umbilical hernia	2	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	3
HP:0010866	HP:0001537	Umbilical hernia	2	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	9
HP:0010866	HP:0001537	Umbilical hernia	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0010866	HP:0000023	Inguinal hernia	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0010866	HP:0001537	Umbilical hernia	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0010866	HP:0000023	Inguinal hernia	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0010866	HP:0000023	Inguinal hernia	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0010866	HP:0000023	Inguinal hernia	2	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional	15
HP:0010866	HP:0000023	Inguinal hernia	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent	38
HP:0010866	HP:0000023	Inguinal hernia	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0010866	HP:0001539	Omphalocele	2	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis	HP:0040283 - Occasional	2
HP:0010866	HP:0000023	Inguinal hernia	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0010866	HP:0000023	Inguinal hernia	2	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0010866	HP:0001537	Umbilical hernia	2	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0010866	HP:0000023	Inguinal hernia	2	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0010866	HP:0001537	Umbilical hernia	2	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0010866	HP:0000023	Inguinal hernia	2	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0010866	HP:0001537	Umbilical hernia	2	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0010866	HP:0000023	Inguinal hernia	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040283 - Occasional	164
HP:0010866	HP:0100541	Femoral hernia	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040283 - Occasional	164
HP:0010866	HP:0001539	Omphalocele	2	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional	1
HP:0010866	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:0010866	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:0010866	HP:0001539	Omphalocele	2	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0010866	HP:0000023	Inguinal 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:0010866	HP:0001539	Omphalocele	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:0010866	HP:0001537	Umbilical hernia	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0010866	HP:0000023	Inguinal hernia	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0010866	HP:0001537	Umbilical hernia	2	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0010866	HP:0000023	Inguinal hernia	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010866	HP:0001537	Umbilical hernia	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010866	HP:0001537	Umbilical hernia	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0010866	HP:0001537	Umbilical hernia	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare	44
HP:0010866	HP:0001537	Umbilical hernia	2	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	79
HP:0010866	HP:0000023	Inguinal hernia	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0010866	HP:0000023	Inguinal hernia	2	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0010866	HP:0000023	Inguinal hernia	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040284 - Very rare	13
HP:0010866	HP:0001537	Umbilical hernia	2	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	121
HP:0010866	HP:0001537	Umbilical hernia	2	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional	121
HP:0010866	HP:0001537	Umbilical hernia	2	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	11
HP:0010866	HP:0100541	Femoral hernia	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0010866	HP:0000023	Inguinal hernia	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0010866	HP:0001537	Umbilical hernia	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0010866	HP:0000023	Inguinal hernia	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0010866	HP:0001537	Umbilical hernia	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0010866	HP:0001537	Umbilical hernia	2	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2	HP:0040283 - Occasional	14
HP:0010866	HP:0000023	Inguinal hernia	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0010866	HP:0001537	Umbilical hernia	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0010866	HP:0100541	Femoral hernia	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0010866	HP:0001539	Omphalocele	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0010866	HP:0001539	Omphalocele	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0010866	HP:0001539	Omphalocele	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0010866	HP:0001539	Omphalocele	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	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:0010866	HP:0001537	Umbilical hernia	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0010866	HP:0000023	Inguinal hernia	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	4
HP:0010866	HP:0000023	Inguinal hernia	2	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	45
HP:0010866	HP:0000023	Inguinal hernia	2	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0010866	HP:0001537	Umbilical hernia	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0010866	HP:0000023	Inguinal hernia	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0010866	HP:0100541	Femoral hernia	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0010866	HP:0000023	Inguinal hernia	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0010866	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:0010866	HP:0001537	Umbilical hernia	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010866	HP:0001537	Umbilical hernia	2	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	.	3
HP:0010866	HP:0000023	Inguinal hernia	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional	172
HP:0010866	HP:0000023	Inguinal hernia	2	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1	.	172
HP:0010866	HP:0000023	Inguinal hernia	2	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0010866	HP:0000023	Inguinal hernia	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0010866	HP:0001537	Umbilical hernia	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0010866	HP:0001537	Umbilical hernia	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010866	HP:0000023	Inguinal hernia	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010866	HP:0000023	Inguinal hernia	2	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.	62
HP:0010866	HP:0001537	Umbilical hernia	2	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0010866	HP:0001537	Umbilical hernia	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	HP:0040283 - Occasional	4
HP:0010866	HP:0001537	Umbilical hernia	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0010866	HP:0001537	Umbilical hernia	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0010866	HP:0001537	Umbilical hernia	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0010866	HP:0001537	Umbilical hernia	2	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0010866	HP:0000023	Inguinal hernia	2	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0010866	HP:0001537	Umbilical hernia	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0010866	HP:0000023	Inguinal hernia	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0010866	HP:0000023	Inguinal hernia	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	81
HP:0010866	HP:0001537	Umbilical hernia	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0010866	HP:0001537	Umbilical hernia	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0010866	HP:0000023	Inguinal hernia	2	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional	58
HP:0010866	HP:0100541	Femoral hernia	2	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional	58
HP:0010866	HP:0001537	Umbilical hernia	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0010866	HP:0001537	Umbilical hernia	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0010866	HP:0001537	Umbilical hernia	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0010866	HP:0001537	Umbilical hernia	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0010866	HP:0001537	Umbilical hernia	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0010866	HP:0001537	Umbilical hernia	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0010866	HP:0001537	Umbilical hernia	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0010866	HP:0001537	Umbilical hernia	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0010866	HP:0000023	Inguinal hernia	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0010866	HP:0000023	Inguinal hernia	2	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional	63
HP:0010866	HP:0000023	Inguinal hernia	2	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	63
HP:0010866	HP:0000023	Inguinal hernia	2	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0010866	HP:0001537	Umbilical hernia	2	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0010866	HP:0000023	Inguinal hernia	2	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0010866	HP:0004872	Incisional hernia	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.	1361
HP:0010866	HP:0000023	Inguinal hernia	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	1361
HP:0010866	HP:0001537	Umbilical hernia	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	1361
HP:0010866	HP:0001537	Umbilical hernia	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0010866	HP:0000023	Inguinal hernia	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0010866	HP:0001537	Umbilical hernia	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0010866	HP:0000023	Inguinal hernia	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0010866	HP:0001537	Umbilical hernia	2	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040281 - Very frequent	62
HP:0010866	HP:0000023	Inguinal hernia	2	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent	62
HP:0010866	HP:0001539	Omphalocele	2	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly	HP:0040283 - Occasional	172
HP:0010866	HP:0000023	Inguinal hernia	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0010866	HP:0000023	Inguinal hernia	2	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040283 - Occasional	172
HP:0010866	HP:0001539	Omphalocele	2	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1	.	172
HP:0010866	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:0010866	HP:0000023	Inguinal hernia	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0010866	HP:0000023	Inguinal hernia	2	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040283 - Occasional	13
HP:0010866	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:0010866	HP:0001537	Umbilical hernia	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010866	HP:0000023	Inguinal hernia	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0010866	HP:0001539	Omphalocele	2	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040283 - Occasional	493
HP:0010866	HP:0001539	Omphalocele	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0010866	HP:0001539	Omphalocele	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0010866	HP:0001539	Omphalocele	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0010866	HP:0001539	Omphalocele	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0010866	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:0010866	HP:0000023	Inguinal hernia	2	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent	493
HP:0010866	HP:0001539	Omphalocele	2	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040282 - Frequent	233
HP:0010866	HP:0000023	Inguinal hernia	2	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0010866	HP:0000023	Inguinal hernia	2	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010866	HP:0001537	Umbilical hernia	2	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010866	HP:0000023	Inguinal hernia	2	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0010866	HP:0001539	Omphalocele	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010866	HP:0001539	Omphalocele	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0010866	HP:0001537	Umbilical hernia	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0010866	HP:0001539	Omphalocele	2	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly	HP:0040283 - Occasional	198
HP:0010866	HP:0001539	Omphalocele	2	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome	.	198
HP:0010866	HP:0001539	Omphalocele	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0010866	HP:0001537	Umbilical hernia	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0010866	HP:0001537	Umbilical hernia	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0010866	HP:0100541	Femoral hernia	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0010866	HP:0001537	Umbilical hernia	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0010866	HP:0000023	Inguinal hernia	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0010866	HP:0001539	Omphalocele	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0010866	HP:0000023	Inguinal hernia	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0010866	HP:0001537	Umbilical hernia	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0010866	HP:0000023	Inguinal hernia	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	HP:0040283 - Occasional	37
HP:0010866	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:0010866	HP:0000023	Inguinal hernia	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0010866	HP:0000023	Inguinal hernia	2	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0010866	HP:0001537	Umbilical hernia	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0010866	HP:0000023	Inguinal hernia	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.	120
HP:0010866	HP:0000023	Inguinal hernia	2	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0010866	HP:0000023	Inguinal hernia	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	270
HP:0010866	HP:0001537	Umbilical hernia	2	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040283 - Occasional	270
HP:0010866	HP:0001537	Umbilical hernia	2	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0010866	HP:0000023	Inguinal hernia	2	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0010866	HP:0000023	Inguinal hernia	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0010866	HP:0001537	Umbilical hernia	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0010866	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:0010866	HP:0001537	Umbilical hernia	2	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent	63
HP:0010866	HP:0000023	Inguinal hernia	2	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.	63
HP:0010866	HP:0001537	Umbilical hernia	2	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.	63
HP:0010866	HP:0001537	Umbilical hernia	2	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent	46
HP:0010866	HP:0001537	Umbilical hernia	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0010866	HP:0001537	Umbilical hernia	2	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	36
HP:0010866	HP:0000023	Inguinal hernia	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010866	HP:0000023	Inguinal hernia	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0010866	HP:0000023	Inguinal hernia	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0010866	HP:0001537	Umbilical hernia	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0010866	HP:0001537	Umbilical hernia	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040281 - Very frequent	240
HP:0010866	HP:0000023	Inguinal hernia	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0010866	HP:0000023	Inguinal hernia	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0010866	HP:0001537	Umbilical hernia	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0010866	HP:0000023	Inguinal hernia	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0010866	HP:0001537	Umbilical hernia	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0010866	HP:0000023	Inguinal hernia	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0010866	HP:0001539	Omphalocele	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0010866	HP:0000023	Inguinal hernia	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0010866	HP:0001537	Umbilical hernia	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0010866	HP:0001537	Umbilical hernia	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0010866	HP:0001539	Omphalocele	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0010866	HP:0000023	Inguinal hernia	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0010866	HP:0001537	Umbilical hernia	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0010866	HP:0000023	Inguinal hernia	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0010866	HP:0001537	Umbilical hernia	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0010866	HP:0001537	Umbilical hernia	2	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent	18
HP:0010866	HP:0000023	Inguinal hernia	2	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.	18
HP:0010866	HP:0001537	Umbilical hernia	2	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.	18
HP:0010866	HP:0001537	Umbilical hernia	2	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	108
HP:0010866	HP:0000023	Inguinal hernia	2	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures		274
HP:0010866	HP:0001539	Omphalocele	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0010866	HP:0001537	Umbilical hernia	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0010866	HP:0001537	Umbilical hernia	2	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0010866	HP:0001537	Umbilical hernia	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0010866	HP:0001537	Umbilical hernia	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0010866	HP:0000023	Inguinal hernia	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010866	HP:0001537	Umbilical hernia	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010866	HP:0001537	Umbilical hernia	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010866	HP:0000023	Inguinal hernia	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010866	HP:0001537	Umbilical hernia	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010866	HP:0000023	Inguinal hernia	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010866	HP:0001537	Umbilical hernia	2	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent	54
HP:0010866	HP:0000023	Inguinal hernia	2	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent	54
HP:0010866	HP:0001537	Umbilical hernia	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0010866	HP:0000023	Inguinal hernia	2	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	4
HP:0010866	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:0010866	HP:0001539	Omphalocele	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0010866	HP:0001537	Umbilical hernia	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0010866	HP:0001537	Umbilical hernia	2	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0010866	HP:0001537	Umbilical hernia	2	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	6
HP:0010866	HP:0001537	Umbilical hernia	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0010866	HP:0000023	Inguinal hernia	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0010866	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:0010866	HP:0000023	Inguinal hernia	2	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0010866	HP:0001539	Omphalocele	2	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0010866	HP:0001537	Umbilical hernia	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0010866	HP:0001537	Umbilical hernia	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0010866	HP:0000023	Inguinal hernia	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0010866	HP:0001539	Omphalocele	2	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0010866	HP:0001537	Umbilical hernia	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0010866	HP:0000023	Inguinal hernia	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0010866	HP:0001537	Umbilical hernia	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0010866	HP:0000023	Inguinal hernia	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0010866	HP:0001539	Omphalocele	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0010866	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:0010866	HP:0001537	Umbilical hernia	2	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0010866	HP:0000023	Inguinal hernia	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0010866	HP:0001537	Umbilical hernia	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0010866	HP:0001537	Umbilical hernia	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0010866	HP:0000023	Inguinal hernia	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0010866	HP:0001537	Umbilical hernia	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0010866	HP:0000023	Inguinal hernia	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0010866	HP:0001537	Umbilical hernia	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0010866	HP:0000023	Inguinal hernia	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0010866	HP:0001537	Umbilical hernia	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.	115
HP:0010866	HP:0000023	Inguinal hernia	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0010866	HP:0000023	Inguinal hernia	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0010866	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:0010866	HP:0001539	Omphalocele	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0010866	HP:0001539	Omphalocele	2	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly	.	2
HP:0010866	HP:0001539	Omphalocele	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0010866	HP:0000023	Inguinal hernia	2	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	9
HP:0010866	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:0010866	HP:0000023	Inguinal hernia	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0010866	HP:0001537	Umbilical hernia	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0010866	HP:0000023	Inguinal hernia	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	111
HP:0010866	HP:0000023	Inguinal hernia	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0010866	HP:0001537	Umbilical hernia	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0010866	HP:0001537	Umbilical hernia	2	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	99
HP:0010866	HP:0000023	Inguinal hernia	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0010866	HP:0001537	Umbilical hernia	2	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	2
HP:0010866	HP:0001539	Omphalocele	2	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040283 - Occasional	2
HP:0010866	HP:0000023	Inguinal hernia	2	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040282 - Frequent	2
HP:0010866	HP:0001537	Umbilical hernia	2	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	130
HP:0010866	HP:0000023	Inguinal hernia	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0010866	HP:0001537	Umbilical hernia	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0010866	HP:0001537	Umbilical hernia	2	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	145
HP:0010866	HP:0001537	Umbilical hernia	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0010866	HP:0001537	Umbilical hernia	2	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	127
HP:0010866	HP:0001537	Umbilical hernia	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0010866	HP:0001539	Omphalocele	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0010866	HP:0001539	Omphalocele	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0010866	HP:0000023	Inguinal hernia	2	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	1
HP:0010866	HP:0000023	Inguinal hernia	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0010866	HP:0001537	Umbilical hernia	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0010866	HP:0000023	Inguinal hernia	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0010866	HP:0001537	Umbilical hernia	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0010866	HP:0000023	Inguinal hernia	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	167
HP:0010866	HP:0000023	Inguinal hernia	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0010866	HP:0000023	Inguinal hernia	2	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.	167
HP:0010866	HP:0000023	Inguinal hernia	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0010866	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:0010866	HP:0001537	Umbilical hernia	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0010866	HP:0001537	Umbilical hernia	2	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0010866	HP:0001537	Umbilical hernia	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0010866	HP:0000023	Inguinal hernia	2	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID	.
HP:0010866	HP:0000023	Inguinal hernia	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0010866	HP:0001537	Umbilical hernia	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0010866	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:0010866	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:0010866	HP:0001537	Umbilical hernia	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010866	HP:0001539	Omphalocele	2	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional
HP:0010866	HP:0001537	Umbilical hernia	2	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional
HP:0010866	HP:0001539	Omphalocele	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0010866	HP:0000023	Inguinal hernia	2	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0010866	HP:0001539	Omphalocele	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040282 - Frequent	289
HP:0010866	HP:0001537	Umbilical hernia	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0010866	HP:0001537	Umbilical hernia	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040282 - Frequent	289
HP:0010866	HP:0001539	Omphalocele	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0010866	HP:0000023	Inguinal hernia	2	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0010866	HP:0000023	Inguinal hernia	2	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0010866	HP:0000023	Inguinal hernia	2	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0010866	HP:0001537	Umbilical hernia	2	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0010866	HP:0001537	Umbilical hernia	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0010866	HP:0000023	Inguinal hernia	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0010866	HP:0001539	Omphalocele	2	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	5
HP:0010866	HP:0000023	Inguinal hernia	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0010866	HP:0001537	Umbilical hernia	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0010866	HP:0000023	Inguinal hernia	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0010866	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:0010866	HP:0000023	Inguinal hernia	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0010866	HP:0001537	Umbilical hernia	2	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	21
HP:0010866	HP:0001539	Omphalocele	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0010866	HP:0000023	Inguinal hernia	2	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0010866	HP:0001539	Omphalocele	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0010866	HP:0000023	Inguinal hernia	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0010866	HP:0000023	Inguinal hernia	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0010866	HP:0001537	Umbilical hernia	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0010866	HP:0000023	Inguinal hernia	2	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0010866	HP:0000023	Inguinal hernia	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0010866	HP:0001537	Umbilical hernia	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0010866	HP:0001537	Umbilical hernia	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0010866	HP:0000023	Inguinal hernia	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0010866	HP:0001537	Umbilical hernia	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0010866	HP:0000023	Inguinal hernia	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0010866	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:0010866	HP:0000023	Inguinal hernia	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0010866	HP:0001539	Omphalocele	2	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional	1
HP:0010866	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:0010866	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:0010866	HP:0001539	Omphalocele	2	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0010866	HP:0000023	Inguinal 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:0010866	HP:0001539	Omphalocele	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:0010866	HP:0001537	Umbilical hernia	2	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional	13
HP:0010866	HP:0001537	Umbilical hernia	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional	13
HP:0010866	HP:0000023	Inguinal hernia	2	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional	7
HP:0010866	HP:0001537	Umbilical hernia	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0010866	HP:0000023	Inguinal hernia	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0010866	HP:0001537	Umbilical hernia	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010866	HP:0000023	Inguinal hernia	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010866	HP:0000023	Inguinal hernia	2	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0010866	HP:0001537	Umbilical hernia	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0010866	HP:0000023	Inguinal hernia	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0010866	HP:0001539	Omphalocele	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0010866	HP:0001537	Umbilical hernia	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010866	HP:0000023	Inguinal hernia	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010866	HP:0001539	Omphalocele	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0010866	HP:0001537	Umbilical hernia	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010866	HP:0000023	Inguinal hernia	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010866	HP:0000023	Inguinal hernia	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010866	HP:0001537	Umbilical hernia	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010866	HP:0001539	Omphalocele	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0010866	HP:0001539	Omphalocele	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0010866	HP:0001537	Umbilical hernia	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0010866	HP:0001537	Umbilical hernia	2	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	12
HP:0010866	HP:0001539	Omphalocele	2	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional	183
HP:0010866	HP:0001537	Umbilical hernia	2	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0010866	HP:0000023	Inguinal hernia	2	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0010866	HP:0001537	Umbilical hernia	2	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	418
HP:0010866	HP:0001539	Omphalocele	2	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	418
HP:0010866	HP:0000023	Inguinal hernia	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0010866	HP:0000023	Inguinal hernia	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	166
HP:0010866	HP:0001537	Umbilical hernia	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0010866	HP:0000023	Inguinal hernia	2	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0010866	HP:0001539	Omphalocele	2	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	326
HP:0010866	HP:0001537	Umbilical hernia	2	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	326
HP:0010866	HP:0001537	Umbilical hernia	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0010866	HP:0000023	Inguinal hernia	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0010866	HP:0000023	Inguinal hernia	2	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0010866	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:0010866	HP:0000023	Inguinal hernia	2	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.	48
HP:0010866	HP:0000023	Inguinal hernia	2	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY	.	1
HP:0010866	HP:0000023	Inguinal hernia	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0010866	HP:0001537	Umbilical hernia	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0010866	HP:0000023	Inguinal hernia	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0010866	HP:0001537	Umbilical hernia	2	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	4
HP:0010866	HP:0001539	Omphalocele	2	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.	9
HP:0010866	HP:0000023	Inguinal hernia	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0010866	HP:0001537	Umbilical hernia	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0010866	HP:0001537	Umbilical hernia	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0010866	HP:0000023	Inguinal hernia	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0010866	HP:0000023	Inguinal hernia	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0010866	HP:0001537	Umbilical hernia	2	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0010866	HP:0000023	Inguinal hernia	2	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0010866	HP:0001539	Omphalocele	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0010866	HP:0001537	Umbilical hernia	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0010866	HP:0000023	Inguinal hernia	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0010866	HP:0001537	Umbilical hernia	2	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent	90
HP:0010866	HP:0001537	Umbilical hernia	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional	452
HP:0010866	HP:0000023	Inguinal hernia	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional	452
HP:0010866	HP:0001537	Umbilical hernia	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0010866	HP:0001537	Umbilical hernia	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0010866	HP:0000023	Inguinal hernia	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0010866	HP:0000023	Inguinal hernia	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0010866	HP:0000023	Inguinal hernia	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent	144
HP:0010866	HP:0000023	Inguinal hernia	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0010866	HP:0001537	Umbilical hernia	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0010866	HP:0001537	Umbilical hernia	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent	144
HP:0010866	HP:0000023	Inguinal hernia	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0010866	HP:0000023	Inguinal hernia	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0010866	HP:0001537	Umbilical hernia	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0010866	HP:0000023	Inguinal hernia	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	544
HP:0010866	HP:0001537	Umbilical hernia	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.	34
HP:0010866	HP:0001537	Umbilical hernia	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0010866	HP:0000023	Inguinal hernia	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0010866	HP:0001539	Omphalocele	2	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0010866	HP:0002933	Ventral hernia	2	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0010866	HP:0001537	Umbilical hernia	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0010866	HP:0001537	Umbilical hernia	2	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2	HP:0040283 - Occasional	88
HP:0010866	HP:0000023	Inguinal hernia	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0010866	HP:0001537	Umbilical hernia	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0010866	HP:0000023	Inguinal hernia	2	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:0010866	HP:0000023	Inguinal hernia	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0010866	HP:0000023	Inguinal hernia	2	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0010866	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:0010866	HP:0000023	Inguinal hernia	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0010866	HP:0000023	Inguinal hernia	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional	231
HP:0010866	HP:0001539	Omphalocele	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional	231
HP:0010866	HP:0001537	Umbilical hernia	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0010866	HP:0001537	Umbilical hernia	2	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0010866	HP:0001537	Umbilical hernia	2	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent	63
HP:0010866	HP:0000023	Inguinal hernia	2	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0010866	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:0010866	HP:0001539	Omphalocele	2	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	11
HP:0010866	HP:0000023	Inguinal hernia	2	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent	77
HP:0010866	HP:0000023	Inguinal hernia	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0010866	HP:0001539	Omphalocele	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0010866	HP:0001537	Umbilical hernia	2	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0010866	HP:0001537	Umbilical hernia	2	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0010866	HP:0000023	Inguinal hernia	2	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0010866	HP:0000023	Inguinal hernia	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010866	HP:0001537	Umbilical hernia	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010866	HP:0000023	Inguinal hernia	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0010866	HP:0001537	Umbilical hernia	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0010866	HP:0001537	Umbilical hernia	2	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0010866	HP:0000023	Inguinal hernia	2	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040281 - Very frequent	43
HP:0010866	HP:0000023	Inguinal hernia	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0010866	HP:0000023	Inguinal hernia	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	3
HP:0010866	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:0010866	HP:0001537	Umbilical hernia	2	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0010866	HP:0000023	Inguinal hernia	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.	4
HP:0010866	HP:0000023	Inguinal hernia	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0010866	HP:0000023	Inguinal 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:0010866	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:0010866	HP:0000023	Inguinal hernia	2	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.	45
HP:0010866	HP:0001537	Umbilical hernia	2	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	244
HP:0010866	HP:0002933	Ventral hernia	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0010866	HP:0000023	Inguinal hernia	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0010866	HP:0000023	Inguinal hernia	2	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0010866	HP:0001537	Umbilical hernia	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0010866	HP:0001537	Umbilical hernia	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0010866	HP:0001539	Omphalocele	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0010866	HP:0001539	Omphalocele	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0010866	HP:0000023	Inguinal hernia	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0010866	HP:0001537	Umbilical hernia	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0010866	HP:0000023	Inguinal hernia	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0010866	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:0010866	HP:0001539	Omphalocele	2	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010866	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:0010866	HP:0000023	Inguinal hernia	2	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0010866	HP:0000023	Inguinal hernia	2	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0010866	HP:0001539	Omphalocele	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	HP:0040284 - Very rare
HP:0010866	HP:0000023	Inguinal hernia	2	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	HP:0040283 - Occasional	58
HP:0010866	HP:0001537	Umbilical hernia	2	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	HP:0040283 - Occasional	58
HP:0010866	HP:0000023	Inguinal hernia	2	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0010866	HP:0001537	Umbilical hernia	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0010866	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:0010866	HP:0001537	Umbilical hernia	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0010866	HP:0001539	Omphalocele	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0010866	HP:0001537	Umbilical hernia	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0010866	HP:0000023	Inguinal hernia	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0010866	HP:0100541	Femoral hernia	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent	6
HP:0010866	HP:0000023	Inguinal hernia	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent	6
HP:0010866	HP:0000023	Inguinal hernia	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0010866	HP:0000023	Inguinal hernia	2	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0010866	HP:0000023	Inguinal hernia	2	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.	53
HP:0010866	HP:0001537	Umbilical hernia	2	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional	31
HP:0010866	HP:0001537	Umbilical hernia	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0010866	HP:0001539	Omphalocele	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0010866	HP:0000023	Inguinal hernia	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0010866	HP:0001537	Umbilical hernia	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0010866	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:0010866	HP:0001537	Umbilical hernia	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0010866	HP:0001537	Umbilical hernia	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0010866	HP:0000023	Inguinal hernia	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010866	HP:0001537	Umbilical hernia	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010866	HP:0001537	Umbilical hernia	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0010866	HP:0001537	Umbilical hernia	2	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	HP:0040283 - Occasional	43
HP:0010866	HP:0001537	Umbilical hernia	2	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040282 - Frequent	43
HP:0010866	HP:0000023	Inguinal hernia	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0010866	HP:0001539	Omphalocele	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0010866	HP:0001537	Umbilical hernia	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0010866	HP:0000023	Inguinal hernia	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0010866	HP:0001537	Umbilical hernia	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0010866	HP:0000023	Inguinal hernia	2	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0010866	HP:0000023	Inguinal hernia	2	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0010866	HP:0001537	Umbilical hernia	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0010866	HP:0000023	Inguinal hernia	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0010866	HP:0001537	Umbilical hernia	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0010866	HP:0000023	Inguinal hernia	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0010866	HP:0001537	Umbilical hernia	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0010866	HP:0000023	Inguinal hernia	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	167
HP:0010866	HP:0000023	Inguinal hernia	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0010866	HP:0000023	Inguinal hernia	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0010866	HP:0000023	Inguinal hernia	2	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0010866	HP:0001537	Umbilical hernia	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0010866	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:0010866	HP:0001539	Omphalocele	2	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional
HP:0010866	HP:0001539	Omphalocele	2	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0010866	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:0010866	HP:0000023	Inguinal hernia	2	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0010866	HP:0001539	Omphalocele	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:0010866	HP:0001537	Umbilical hernia	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0010866	HP:0000023	Inguinal hernia	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0010866	HP:0001537	Umbilical hernia	2	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	126
HP:0010866	HP:0001537	Umbilical hernia	2	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	427
HP:0010866	HP:0001537	Umbilical hernia	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0010866	HP:0001537	Umbilical hernia	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0010866	HP:0000023	Inguinal hernia	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0010866	HP:0000023	Inguinal hernia	2	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional	6
HP:0010866	HP:0000023	Inguinal hernia	2	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0010866	HP:0000023	Inguinal hernia	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0010866	HP:0001537	Umbilical hernia	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0010866	HP:0000023	Inguinal hernia	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0010866	HP:0000023	Inguinal hernia	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0010866	HP:0001537	Umbilical hernia	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0010866	HP:0000023	Inguinal hernia	2	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0010866	HP:0001537	Umbilical hernia	2	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0010866	HP:0001537	Umbilical hernia	2	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040283 - Occasional	134
HP:0010866	HP:0000023	Inguinal hernia	2	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040283 - Occasional	134
HP:0010866	HP:0001537	Umbilical hernia	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional	53
HP:0010866	HP:0000023	Inguinal hernia	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0010866	HP:0000023	Inguinal hernia	2	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0010866	HP:0001537	Umbilical hernia	2	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	11
HP:0010866	HP:0000023	Inguinal hernia	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0010866	HP:0001537	Umbilical hernia	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0010866	HP:0000023	Inguinal hernia	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0010866	HP:0001537	Umbilical hernia	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	150
HP:0010866	HP:0000023	Inguinal hernia	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	150
HP:0010866	HP:0000023	Inguinal hernia	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0010866	HP:0000023	Inguinal hernia	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0010866	HP:0000023	Inguinal hernia	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	HP:0040284 - Very rare
HP:0010866	HP:0001537	Umbilical hernia	2	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0010866	HP:0001537	Umbilical hernia	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0010866	HP:0001537	Umbilical hernia	2	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040282 - Frequent
HP:0010866	HP:0001537	Umbilical hernia	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0010866	HP:0100541	Femoral hernia	2	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040282 - Frequent	166
HP:0010866	HP:0001537	Umbilical hernia	2	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040282 - Frequent	166
HP:0010866	HP:0000023	Inguinal hernia	2	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0010866	HP:0001537	Umbilical hernia	2	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0010866	HP:0001537	Umbilical hernia	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0010866	HP:0000023	Inguinal hernia	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0010866	HP:0100541	Femoral hernia	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0010866	HP:0000023	Inguinal hernia	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0010866	HP:0001537	Umbilical hernia	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0010866	HP:0001537	Umbilical hernia	2	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0010866	HP:0000023	Inguinal hernia	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0010866	HP:0001537	Umbilical hernia	2	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	59
HP:0010866	HP:0001537	Umbilical hernia	2	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1	.	59
HP:0010866	HP:0000023	Inguinal hernia	2	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0010866	HP:0001537	Umbilical hernia	2	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent	81
HP:0010866	HP:0001537	Umbilical hernia	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0010866	HP:0000023	Inguinal hernia	2	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0010866	HP:0000023	Inguinal hernia	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0010866	HP:0001537	Umbilical hernia	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0010866	HP:0000023	Inguinal hernia	2	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0010866	HP:0000023	Inguinal hernia	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0010866	HP:0001537	Umbilical hernia	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0010866	HP:0000023	Inguinal hernia	2	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0010866	HP:0000023	Inguinal hernia	2	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504
HP:0010866	HP:0100541	Femoral hernia	2	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504
HP:0010866	HP:0000023	Inguinal hernia	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0010866	HP:0001537	Umbilical hernia	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0010866	HP:0000023	Inguinal hernia	2	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0010866	HP:0000023	Inguinal hernia	2	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome	HP:0040283 - Occasional	174
HP:0010866	HP:0000023	Inguinal hernia	2	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	174
HP:0010866	HP:0001537	Umbilical hernia	2	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.	3
HP:0010866	HP:0001537	Umbilical hernia	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0010866	HP:0001539	Omphalocele	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0010866	HP:0001537	Umbilical hernia	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0010866	HP:0001539	Omphalocele	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional	6
HP:0010866	HP:0001537	Umbilical hernia	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0010866	HP:0000023	Inguinal hernia	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0010866	HP:0000023	Inguinal hernia	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0010866	HP:0001537	Umbilical hernia	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010866	HP:0001537	Umbilical hernia	2	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0010866	HP:0000023	Inguinal hernia	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	1
HP:0010866	HP:0001537	Umbilical hernia	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0010866	HP:0001537	Umbilical hernia	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010866	HP:0000023	Inguinal hernia	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0010866	HP:0001537	Umbilical hernia	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0010866	HP:0000023	Inguinal hernia	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0010866	HP:0100541	Femoral hernia	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0010866	HP:0001537	Umbilical hernia	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0010866	HP:0001537	Umbilical hernia	2	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0010866	HP:0000023	Inguinal hernia	2	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0010866	HP:0000023	Inguinal hernia	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0010866	HP:0001537	Umbilical hernia	2	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0010866	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:0010866	HP:0001537	Umbilical hernia	2	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	155
HP:0010866	HP:0001537	Umbilical hernia	2	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0010866	HP:0000023	Inguinal hernia	2	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0010866	HP:0000023	Inguinal hernia	2	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0010866	HP:0000023	Inguinal hernia	2	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0010866	HP:0000023	Inguinal hernia	2	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0010866	HP:0000023	Inguinal hernia	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0010866	HP:0000023	Inguinal hernia	2	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0010866	HP:0000023	Inguinal hernia	2	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0010866	HP:0001537	Umbilical hernia	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	HP:0040283 - Occasional	253
HP:0010866	HP:0000023	Inguinal hernia	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	HP:0040283 - Occasional	253
HP:0010866	HP:0001539	Omphalocele	2	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.	9
HP:0010866	HP:0000023	Inguinal hernia	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0010866	HP:0000023	Inguinal hernia	2	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.	4
HP:0010866	HP:0001539	Omphalocele	2	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0010866	HP:0001537	Umbilical hernia	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010866	HP:0000023	Inguinal hernia	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	166
HP:0010866	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:0010866	HP:0000023	Inguinal hernia	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0010866	HP:0001539	Omphalocele	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0010866	HP:0000023	Inguinal hernia	2	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0010866	HP:0000023	Inguinal hernia	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0010866	HP:0001537	Umbilical hernia	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0010866	HP:0000023	Inguinal hernia	2	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040282 - Frequent	140
HP:0010866	HP:0001539	Omphalocele	2	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040283 - Occasional	140
HP:0010866	HP:0001537	Umbilical hernia	2	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	140
HP:0010866	HP:0001537	Umbilical hernia	2	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	140
HP:0010866	HP:0001537	Umbilical hernia	2	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	92
HP:0010866	HP:0001537	Umbilical hernia	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0010866	HP:0001537	Umbilical hernia	2	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0010866	HP:0001537	Umbilical hernia	2	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040282 - Frequent	133
HP:0010866	HP:0100541	Femoral hernia	2	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040282 - Frequent	133
HP:0010866	HP:0001539	Omphalocele	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0010866	HP:0000023	Inguinal hernia	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0010866	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:0010866	HP:0001537	Umbilical hernia	2	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.	9
HP:0010866	HP:0001539	Omphalocele	2	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.	9
HP:0010866	HP:0001537	Umbilical hernia	2	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0010866	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:0010866	HP:0000023	Inguinal hernia	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0010866	HP:0001539	Omphalocele	2	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	26
HP:0010866	HP:0001539	Omphalocele	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	HP:0040283 - Occasional	26
HP:0010866	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:0010866	HP:0000023	Inguinal hernia	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0010866	HP:0001539	Omphalocele	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040283 - Occasional	7
HP:0010866	HP:0001537	Umbilical hernia	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0010866	HP:0001539	Omphalocele	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0010866	HP:0002933	Ventral hernia	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.	7
HP:0010866	HP:0000023	Inguinal hernia	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0010866	HP:0000023	Inguinal hernia	2	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0010866	HP:0001537	Umbilical hernia	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0010866	HP:0000023	Inguinal hernia	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0010866	HP:0001537	Umbilical hernia	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0010866	HP:0001539	Omphalocele	2	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional	2
HP:0010866	HP:0001537	Umbilical hernia	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010866	HP:0000023	Inguinal hernia	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010866	HP:0000023	Inguinal hernia	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0010866	HP:0000023	Inguinal hernia	2	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95
HP:0010866	HP:0000023	Inguinal hernia	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0010866	HP:0001539	Omphalocele	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	136
HP:0010866	HP:0001537	Umbilical hernia	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0010866	HP:0000023	Inguinal hernia	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0010866	HP:0100541	Femoral hernia	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0010866	HP:0000023	Inguinal hernia	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0010866	HP:0001537	Umbilical hernia	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0010866	HP:0001537	Umbilical hernia	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0010866	HP:0000023	Inguinal hernia	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0010866	HP:0000023	Inguinal hernia	2	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional	14
HP:0010866	HP:0001539	Omphalocele	2	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional	14
HP:0010866	HP:0001537	Umbilical hernia	2	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	9
HP:0010866	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:0010866	HP:0000023	Inguinal hernia	2	ZEB1 CL E G H	6935	11642	OMIM:609141	Corneal dystrophy, posterior polymorphous, 3		8
HP:0010866	HP:0001537	Umbilical hernia	2	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	30
HP:0010866	HP:0001539	Omphalocele	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39

Genes (466) :ABCC8 ABCC9 ABCD4 ACTA2 ACTG2 ADAMTS2 ADAMTSL2 ADNP AEBP1 AGA AGPAT2 ALDH18A1 ALG9 AMER1 AMH AMHR2 ANTXR1 AP1S2 APC2 AR ARID1A ARID1B ARPC4 ARSB ARVCF ARX ATAD1 ATP1A2 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATRX AUTS2 B3GAT3 B3GLCT BAZ1B BCL11B BCL7B BCOR BCR BHLHA9 BMP1 BMPER BRAT1 BRCA1 BRCA2 BRF1 BRIP1 BSCL2 BUD23 C1R C1S CARS1 CASK CBS CC2D2A CCBE1 CCDC22 CD96 CDC42 CDCA7 CDH11 CDKL5 CDKN1C CEP120 CHAMP1 CHD7 CHRNG CHST14 CHST3 CHUK CLCN4 CLDN19 CLIP2 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COLEC10 COLEC11 COMT CREBBP CRKL CTCF CTNND2 CUL4B CWC27 DACT1 DDX6 DGCR2 DGCR6 DGCR8 DHCR7 DIS3L2 DLK1 DLL3 DMXL2 DNAJC30 DNMT3A DNMT3B DPH1 DSE DUOX2 DUOXA2 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EED EFEMP2 EFNB1 EHMT1 EIF4H ELMO2 ELN ELOVL4 EN1 EOGT ERCC2 ERCC3 ERCC4 ESS2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FBLN5 FBN1 FBXW11 FGD1 FGFR1 FGFR2 FIBP FKBP14 FKBP6 FLI1 FLNA FLNB FOCAD FOXE3 FOXF1 FRAS1 FREM1 FREM2 FTO FZD2 G6PC3 GAD1 GALNS GATA6 GDF1 GDF11 GJA1 GLB1 GLI3 GLIS3 GLRA1 GLRB GMNN GNAO1 GNB2 GNE GNPTAB GNS GP1BB GPC3 GPC4 GPC6 GPHN GRIN1 GRIN2B GRIP1 GRM7 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB H19 H19-ICR H4C3 HDAC4 HELLS HES7 HESX1 HEY2 HIC1 HIRA HIVEP2 HMGA2 HOXD13 HSPG2 HYLS1 HYMAI IDS IDUA IFT122 IFT140 IFT80 IFT81 IGF2 IKBKG INPP5E IPO8 IRF6 IRX5 ISL1 IYD JMJD1C KCNA1 KCNH1 KCNJ11 KCNJ8 KCNQ1 KCNQ1OT1 KDM3B KDM5B KIF7 KMT2C KNSTRN LBR LDHD LFNG LHX3 LHX4 LIMK1 LMOD1 LONP1 LOX LRP2 LTBP1 LTBP4 MAD2L2 MAF MAMLD1 MAN2B1 MAPK1 MAPRE2 MASP1 MAT2A MBTPS2 MDFIC MECP2 MED12 MED13L MED25 MEG3 MEGF8 MEIS2 MESP2 METTL27 MFAP5 MID1 MKS1 MLXIPL MMP14 MMP2 MPLKIP MSX1 MTHFR MTOR MYH11 MYH3 MYLK NAA10 NALCN NAT8L NCF1 NDUFA8 NECTIN1 NEK9 NEU1 NEUROD2 NFIA NFIX NIPBL NKX2-5 NLRP3 NOTCH1 NOTCH2 NOTCH3 NPHP3 NSD1 NSDHL NXN OCLN OCRL ODC1 OFD1 P3H1 PACS1 PAFAH1B1 PALB2 PAX8 PHGDH PI4KA PIEZO2 PIGN PIGP PIGQ PIGS PIGY PIK3CD PIK3R1 PLAG1 PLAGL1 PLD1 PLOD1 PLOD2 PNKP POGZ POLR2A POLR3GL PORCN POU1F1 PPP1R12A PPP2CA PPP2R1A PPP2R3C PRDM5 PRKG1 PRKG2 PROP1 PRR12 PTCH1 PTDSS1 PUF60 PYCR1 RAB23 RAB3GAP2 RAC1 RAD51 RAD51C RFC2 RFWD3 RIC1 RIN2 RIPK4 RIPPLY2 RNF113A RNF13 RNF2 ROR2 RPGRIP1L RPL10 RPS6KA3 RREB1 RTL1 SALL1 SATB2 SCN1B SCN2A SEC24C SEC31A SEMA5A SERPINH1 SET SETBP1 SETD2 SF3B4 SGSH SH3PXD2B SHANK3 SHOC2 SHPK SIK1 SIN3A SKI SKIC2 SKIC3 SLC10A7 SLC25A22 SLC25A24 SLC26A2 SLC2A10 SLC35C1 SLC35D1 SLC37A4 SLC5A5 SLC5A6 SLC6A5 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCB1 SMCHD1 SNIP1 SOX6 SPECC1L SRCAP STRA6 STS STX1A SUZ12 TARS1 TASP1 TBL2 TBX1 TBX3 TENT5A TFE3 TG TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 THRA TMCO1 TMEM107 TMEM216 TMEM270 TMEM67 TMEM70 TMEM94 TNRC6B TOR1A TP63 TPO TRAF7 TRIM8 TRIP11 TRRAP TSHB TSHR TTC26 TTC7A TUBB TWIST2 TXNL4A UBA1 UBE2T UFD1 VANGL2 VPS37D WASHC5 WDR19 WDR35 WNT3 WNT5A XRCC2 XRCC4 YWHAE ZBTB24 ZBTB7A ZEB1 ZFP57 ZIC3

Diseases (421) :ORPHA:99886 OMIM:239850 ORPHA:1517 OMIM:614857 ORPHA:91387 ORPHA:2604 ORPHA:2241 ORPHA:1901 OMIM:225410 ORPHA:404448 ORPHA:536532 OMIM:618000 ORPHA:93 OMIM:608594 ORPHA:90348 OMIM:219150 ORPHA:79328 OMIM:263210 OMIM:300373 ORPHA:2856 OMIM:261550 OMIM:230740 ORPHA:2067 ORPHA:1568 ORPHA:821 OMIM:300068 ORPHA:95706 OMIM:614607 OMIM:135900 OMIM:620141 OMIM:253200 ORPHA:567 ORPHA:2508 ORPHA:1934 ORPHA:3197 OMIM:618011 OMIM:619602 ORPHA:357074 OMIM:219200 OMIM:278250 ORPHA:2834 OMIM:617403 ORPHA:565 ORPHA:198 OMIM:301040 ORPHA:352490 OMIM:615834 OMIM:245600 ORPHA:709 OMIM:261540 ORPHA:904 OMIM:617237 OMIM:300166 ORPHA:261330 ORPHA:3329 OMIM:614856 OMIM:608022 OMIM:614498 ORPHA:84 ORPHA:444072 OMIM:269700 OMIM:130080 OMIM:617174 ORPHA:33364 OMIM:236200 ORPHA:1454 OMIM:235510 ORPHA:7 ORPHA:1308 OMIM:211750 ORPHA:487796 OMIM:616737 ORPHA:2268 ORPHA:1299 OMIM:130650 ORPHA:397590 OMIM:616300 OMIM:616579 OMIM:214800 ORPHA:2990 OMIM:265000 OMIM:601776 ORPHA:2953 OMIM:613630 ORPHA:485350 ORPHA:2196 ORPHA:2021 OMIM:228520 ORPHA:1899 ORPHA:287 OMIM:619115 ORPHA:230851 OMIM:225320 OMIM:156550 OMIM:184250 OMIM:130050 ORPHA:286 OMIM:130000 ORPHA:293843 OMIM:618332 ORPHA:363611 ORPHA:281 ORPHA:85293 ORPHA:166035 ORPHA:63260 OMIM:618653 OMIM:192430 ORPHA:818 ORPHA:2849 ORPHA:254534 ORPHA:254528 ORPHA:96334 ORPHA:2311 ORPHA:404443 OMIM:615879 ORPHA:459061 OMIM:615539 ORPHA:95716 ORPHA:226316 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 ORPHA:93271 ORPHA:268261 OMIM:617561 ORPHA:3447 ORPHA:90349 OMIM:614437 OMIM:304110 ORPHA:96147 ORPHA:261652 OMIM:606893 OMIM:123700 OMIM:194050 OMIM:614457 OMIM:619218 OMIM:615297 OMIM:277590 ORPHA:3412 OMIM:613658 OMIM:219100 OMIM:154700 ORPHA:2462 OMIM:608328 OMIM:618914 OMIM:305400 ORPHA:915 ORPHA:3366 OMIM:166250 ORPHA:2645 OMIM:190440 ORPHA:1555 ORPHA:500095 OMIM:614557 ORPHA:2308 OMIM:309350 ORPHA:2484 ORPHA:90652 OMIM:311300 OMIM:304120 ORPHA:75497 ORPHA:1263 OMIM:272460 OMIM:619991 OMIM:265380 ORPHA:2052 OMIM:248450 OMIM:612938 OMIM:612541 OMIM:619124 OMIM:253000 OMIM:600001 ORPHA:2255 OMIM:208530 OMIM:619122 ORPHA:2710 OMIM:230500 OMIM:253010 ORPHA:36 ORPHA:380 OMIM:175700 ORPHA:672 OMIM:610199 OMIM:149400 OMIM:616835 OMIM:619503 OMIM:269921 OMIM:252500 ORPHA:576 OMIM:252940 ORPHA:373 OMIM:312870 OMIM:258315 OMIM:613970 ORPHA:584 OMIM:253220 ORPHA:2128 ORPHA:231144 OMIM:619758 ORPHA:1001 ORPHA:226307 ORPHA:531 OMIM:616977 ORPHA:887 ORPHA:800 OMIM:255800 OMIM:236680 ORPHA:96191 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:607014 OMIM:607015 OMIM:218330 OMIM:266920 OMIM:617895 ORPHA:464 OMIM:619472 ORPHA:199302 OMIM:611174 ORPHA:93930 OMIM:135500 OMIM:618846 OMIM:618109 OMIM:200990 OMIM:607131 ORPHA:221139 OMIM:613328 OMIM:169400 OMIM:245450 OMIM:600373 OMIM:222448 ORPHA:2143 OMIM:619451 OMIM:613177 ORPHA:1272 OMIM:248500 ORPHA:309282 ORPHA:2505 OMIM:257920 ORPHA:2273 OMIM:308205 OMIM:620014 ORPHA:1762 ORPHA:93932 OMIM:301068 OMIM:300895 OMIM:305450 ORPHA:369891 ORPHA:464738 ORPHA:65759 OMIM:614976 ORPHA:261190 ORPHA:2745 OMIM:300000 OMIM:249000 ORPHA:371428 ORPHA:563609 OMIM:616638 OMIM:193700 OMIM:300855 ORPHA:276432 OMIM:616266 OMIM:614063 OMIM:619272 OMIM:617022 ORPHA:93400 ORPHA:93399 OMIM:256550 OMIM:613735 OMIM:602535 OMIM:122470 ORPHA:95712 ORPHA:575 OMIM:616028 ORPHA:955 OMIM:102500 OMIM:130720 ORPHA:2789 OMIM:267010 OMIM:308050 ORPHA:1507 OMIM:618529 OMIM:251290 OMIM:300555 ORPHA:534 ORPHA:544488 OMIM:300209 OMIM:610915 ORPHA:329224 ORPHA:217385 OMIM:218700 ORPHA:79351 ORPHA:436252 ORPHA:1154 OMIM:248700 ORPHA:2059 OMIM:618548 OMIM:618143 OMIM:616809 ORPHA:3163 OMIM:269880 OMIM:212093 OMIM:225400 ORPHA:1900 OMIM:609220 ORPHA:468678 OMIM:618603 OMIM:619234 ORPHA:2092 OMIM:305600 OMIM:618820 OMIM:618354 ORPHA:457284 OMIM:618419 OMIM:614170 OMIM:619636 OMIM:619539 OMIM:610828 ORPHA:77301 OMIM:151050 ORPHA:2658 ORPHA:508488 OMIM:612940 OMIM:614438 OMIM:201000 OMIM:212720 OMIM:617751 ORPHA:500159 OMIM:618761 OMIM:613075 ORPHA:217335 OMIM:263650 OMIM:618379 ORPHA:544503 OMIM:619460 OMIM:268310 OMIM:300998 ORPHA:459070 OMIM:303600 OMIM:107480 OMIM:612313 OMIM:618651 OMIM:613848 OMIM:618106 ORPHA:798 OMIM:154400 OMIM:252900 ORPHA:137834 ORPHA:48652 OMIM:607721 ORPHA:440713 OMIM:613406 OMIM:182212 ORPHA:84064 OMIM:618363 OMIM:612289 ORPHA:2095 ORPHA:2963 ORPHA:93298 OMIM:600972 OMIM:208050 ORPHA:3342 ORPHA:99843 OMIM:269250 OMIM:619525 OMIM:274400 OMIM:619903 ORPHA:284984 OMIM:613795 ORPHA:2588 OMIM:601358 OMIM:614608 OMIM:603457 ORPHA:2250 OMIM:614501 OMIM:618971 OMIM:145420 ORPHA:1519 OMIM:136140 OMIM:601186 ORPHA:281090 OMIM:618786 OMIM:618950 OMIM:188400 OMIM:181450 ORPHA:3138 OMIM:617952 OMIM:301066 OMIM:616145 OMIM:614816 OMIM:615582 OMIM:610168 OMIM:614450 OMIM:213980 OMIM:617563 OMIM:603194 OMIM:614052 OMIM:618316 OMIM:619243 OMIM:618947 OMIM:618164 ORPHA:93299 OMIM:618454 OMIM:275100 ORPHA:90674 ORPHA:90673 OMIM:619534 OMIM:243150 ORPHA:920 OMIM:200110 OMIM:608572 OMIM:301830 OMIM:614376 OMIM:613610 OMIM:273395 OMIM:616541 OMIM:619769 OMIM:609141 OMIM:306955

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

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