Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abdominal wall defect (HP:0010866)

Grandparent Node:
Hernia (HP:0100790)

Parent Node:
Hernia of the abdominal wall (HP:0004299)

..Starting node
..Inguinal hernia (HP:0000023)

Term ID:

Name:

Inguinal hernia

Synonym:

Definition:

Protrusion of the contents of the abdominal cavity through the inguinal canal.

Comments:

Reference:

HP:0000023

Genes and Diseases:

Child Nodes:

Sister Nodes:

Femoral hernia (HP:0100541)

Incisional hernia (HP:0004872)

Omphalocele (HP:0001539)

Umbilical hernia (HP:0001537)

Ventral hernia (HP:0002933)

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:0000023	HP:0000023	Inguinal hernia	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0000023	HP:0000023	Inguinal hernia	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0000023	HP:0000023	Inguinal hernia	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent	165
HP:0000023	HP:0000023	Inguinal hernia	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0000023	HP:0000023	Inguinal hernia	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent	72
HP:0000023	HP:0000023	Inguinal hernia	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare	47
HP:0000023	HP:0000023	Inguinal hernia	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0000023	HP:0000023	Inguinal hernia	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0000023	HP:0000023	Inguinal hernia	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040283 - Occasional	76
HP:0000023	HP:0000023	Inguinal hernia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional	89
HP:0000023	HP:0000023	Inguinal hernia	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0000023	HP:0000023	Inguinal hernia	0	AMH CL E G H	268	464	ORPHA:2856	Persistent Müllerian duct syndrome	HP:0040282 - Frequent	9
HP:0000023	HP:0000023	Inguinal hernia	0	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II		9
HP:0000023	HP:0000023	Inguinal hernia	0	AMHR2 CL E G H	269	465	ORPHA:2856	Persistent Müllerian duct syndrome	HP:0040282 - Frequent	8
HP:0000023	HP:0000023	Inguinal hernia	0	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II		8
HP:0000023	HP:0000023	Inguinal hernia	0	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:0000023	HP:0000023	Inguinal hernia	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0000023	HP:0000023	Inguinal hernia	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0000023	HP:0000023	Inguinal hernia	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0000023	HP:0000023	Inguinal hernia	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000023	HP:0000023	Inguinal hernia	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000023	HP:0000023	Inguinal hernia	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0000023	HP:0000023	Inguinal hernia	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0000023	HP:0000023	Inguinal hernia	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040283 - Occasional	166
HP:0000023	HP:0000023	Inguinal hernia	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0000023	HP:0000023	Inguinal hernia	0	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0000023	HP:0000023	Inguinal hernia	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	140
HP:0000023	HP:0000023	Inguinal hernia	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0000023	HP:0000023	Inguinal hernia	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0000023	HP:0000023	Inguinal hernia	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0000023	HP:0000023	Inguinal hernia	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	3
HP:0000023	HP:0000023	Inguinal hernia	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0000023	HP:0000023	Inguinal hernia	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	2
HP:0000023	HP:0000023	Inguinal hernia	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent	192
HP:0000023	HP:0000023	Inguinal hernia	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0000023	HP:0000023	Inguinal hernia	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0000023	HP:0000023	Inguinal hernia	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0000023	HP:0000023	Inguinal hernia	0	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:0000023	HP:0000023	Inguinal hernia	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0000023	HP:0000023	Inguinal hernia	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000023	HP:0000023	Inguinal hernia	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000023	HP:0000023	Inguinal hernia	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0000023	HP:0000023	Inguinal hernia	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0000023	HP:0000023	Inguinal hernia	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0000023	HP:0000023	Inguinal hernia	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0000023	HP:0000023	Inguinal hernia	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000023	HP:0000023	Inguinal hernia	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0000023	HP:0000023	Inguinal hernia	0	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	.	7
HP:0000023	HP:0000023	Inguinal hernia	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.	242
HP:0000023	HP:0000023	Inguinal hernia	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	247
HP:0000023	HP:0000023	Inguinal hernia	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0000023	HP:0000023	Inguinal hernia	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0000023	HP:0000023	Inguinal hernia	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0000023	HP:0000023	Inguinal hernia	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0000023	HP:0000023	Inguinal hernia	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	68
HP:0000023	HP:0000023	Inguinal hernia	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0000023	HP:0000023	Inguinal hernia	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040284 - Very rare	27
HP:0000023	HP:0000023	Inguinal hernia	0	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:0000023	HP:0000023	Inguinal hernia	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040284 - Very rare	45
HP:0000023	HP:0000023	Inguinal hernia	0	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:0000023	HP:0000023	Inguinal hernia	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000023	HP:0000023	Inguinal hernia	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0000023	HP:0000023	Inguinal hernia	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0000023	HP:0000023	Inguinal hernia	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0000023	HP:0000023	Inguinal hernia	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0000023	HP:0000023	Inguinal hernia	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0000023	HP:0000023	Inguinal hernia	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0000023	HP:0000023	Inguinal hernia	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0000023	HP:0000023	Inguinal hernia	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0000023	HP:0000023	Inguinal hernia	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000023	HP:0000023	Inguinal hernia	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0000023	HP:0000023	Inguinal hernia	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0000023	HP:0000023	Inguinal hernia	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0000023	HP:0000023	Inguinal hernia	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0000023	HP:0000023	Inguinal hernia	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0000023	HP:0000023	Inguinal hernia	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000023	HP:0000023	Inguinal hernia	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000023	HP:0000023	Inguinal hernia	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0000023	HP:0000023	Inguinal hernia	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional	15
HP:0000023	HP:0000023	Inguinal hernia	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent	38
HP:0000023	HP:0000023	Inguinal hernia	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0000023	HP:0000023	Inguinal hernia	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000023	HP:0000023	Inguinal hernia	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0000023	HP:0000023	Inguinal hernia	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0000023	HP:0000023	Inguinal hernia	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0000023	HP:0000023	Inguinal hernia	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040283 - Occasional	164
HP:0000023	HP:0000023	Inguinal hernia	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0000023	HP:0000023	Inguinal hernia	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0000023	HP:0000023	Inguinal hernia	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000023	HP:0000023	Inguinal hernia	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0000023	HP:0000023	Inguinal hernia	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0000023	HP:0000023	Inguinal hernia	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040284 - Very rare	13
HP:0000023	HP:0000023	Inguinal hernia	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0000023	HP:0000023	Inguinal hernia	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0000023	HP:0000023	Inguinal hernia	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0000023	HP:0000023	Inguinal hernia	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0000023	HP:0000023	Inguinal hernia	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	4
HP:0000023	HP:0000023	Inguinal hernia	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	45
HP:0000023	HP:0000023	Inguinal hernia	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0000023	HP:0000023	Inguinal hernia	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0000023	HP:0000023	Inguinal hernia	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0000023	HP:0000023	Inguinal hernia	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000023	HP:0000023	Inguinal hernia	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional	172
HP:0000023	HP:0000023	Inguinal hernia	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1	.	172
HP:0000023	HP:0000023	Inguinal hernia	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0000023	HP:0000023	Inguinal hernia	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0000023	HP:0000023	Inguinal hernia	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000023	HP:0000023	Inguinal hernia	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.	62
HP:0000023	HP:0000023	Inguinal hernia	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0000023	HP:0000023	Inguinal hernia	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0000023	HP:0000023	Inguinal hernia	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	81
HP:0000023	HP:0000023	Inguinal hernia	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional	58
HP:0000023	HP:0000023	Inguinal hernia	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0000023	HP:0000023	Inguinal hernia	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional	63
HP:0000023	HP:0000023	Inguinal hernia	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	63
HP:0000023	HP:0000023	Inguinal hernia	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0000023	HP:0000023	Inguinal hernia	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0000023	HP:0000023	Inguinal hernia	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	1361
HP:0000023	HP:0000023	Inguinal hernia	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000023	HP:0000023	Inguinal hernia	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent	62
HP:0000023	HP:0000023	Inguinal hernia	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0000023	HP:0000023	Inguinal hernia	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0000023	HP:0000023	Inguinal hernia	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040283 - Occasional	172
HP:0000023	HP:0000023	Inguinal hernia	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0000023	HP:0000023	Inguinal hernia	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040283 - Occasional	13
HP:0000023	HP:0000023	Inguinal hernia	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000023	HP:0000023	Inguinal hernia	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0000023	HP:0000023	Inguinal hernia	0	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent	493
HP:0000023	HP:0000023	Inguinal hernia	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0000023	HP:0000023	Inguinal hernia	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0000023	HP:0000023	Inguinal hernia	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0000023	HP:0000023	Inguinal hernia	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000023	HP:0000023	Inguinal hernia	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0000023	HP:0000023	Inguinal hernia	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0000023	HP:0000023	Inguinal hernia	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	HP:0040283 - Occasional	37
HP:0000023	HP:0000023	Inguinal hernia	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0000023	HP:0000023	Inguinal hernia	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000023	HP:0000023	Inguinal hernia	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.	120
HP:0000023	HP:0000023	Inguinal hernia	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0000023	HP:0000023	Inguinal hernia	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	270
HP:0000023	HP:0000023	Inguinal hernia	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0000023	HP:0000023	Inguinal hernia	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0000023	HP:0000023	Inguinal hernia	0	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.	63
HP:0000023	HP:0000023	Inguinal hernia	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000023	HP:0000023	Inguinal hernia	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0000023	HP:0000023	Inguinal hernia	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0000023	HP:0000023	Inguinal hernia	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0000023	HP:0000023	Inguinal hernia	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0000023	HP:0000023	Inguinal hernia	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0000023	HP:0000023	Inguinal hernia	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0000023	HP:0000023	Inguinal hernia	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000023	HP:0000023	Inguinal hernia	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0000023	HP:0000023	Inguinal hernia	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000023	HP:0000023	Inguinal hernia	0	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.	18
HP:0000023	HP:0000023	Inguinal hernia	0	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures		274
HP:0000023	HP:0000023	Inguinal hernia	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000023	HP:0000023	Inguinal hernia	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000023	HP:0000023	Inguinal hernia	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000023	HP:0000023	Inguinal hernia	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent	54
HP:0000023	HP:0000023	Inguinal hernia	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	4
HP:0000023	HP:0000023	Inguinal hernia	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0000023	HP:0000023	Inguinal hernia	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0000023	HP:0000023	Inguinal hernia	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0000023	HP:0000023	Inguinal hernia	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0000023	HP:0000023	Inguinal hernia	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0000023	HP:0000023	Inguinal hernia	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0000023	HP:0000023	Inguinal hernia	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0000023	HP:0000023	Inguinal hernia	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0000023	HP:0000023	Inguinal hernia	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0000023	HP:0000023	Inguinal hernia	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0000023	HP:0000023	Inguinal hernia	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0000023	HP:0000023	Inguinal hernia	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0000023	HP:0000023	Inguinal hernia	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	9
HP:0000023	HP:0000023	Inguinal hernia	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0000023	HP:0000023	Inguinal hernia	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	111
HP:0000023	HP:0000023	Inguinal hernia	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000023	HP:0000023	Inguinal hernia	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0000023	HP:0000023	Inguinal hernia	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040282 - Frequent	2
HP:0000023	HP:0000023	Inguinal hernia	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0000023	HP:0000023	Inguinal hernia	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	1
HP:0000023	HP:0000023	Inguinal hernia	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000023	HP:0000023	Inguinal hernia	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0000023	HP:0000023	Inguinal hernia	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000023	HP:0000023	Inguinal hernia	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	167
HP:0000023	HP:0000023	Inguinal hernia	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.	167
HP:0000023	HP:0000023	Inguinal hernia	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0000023	HP:0000023	Inguinal hernia	0	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID	.
HP:0000023	HP:0000023	Inguinal hernia	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0000023	HP:0000023	Inguinal hernia	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000023	HP:0000023	Inguinal hernia	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0000023	HP:0000023	Inguinal hernia	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0000023	HP:0000023	Inguinal hernia	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000023	HP:0000023	Inguinal hernia	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0000023	HP:0000023	Inguinal hernia	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0000023	HP:0000023	Inguinal hernia	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0000023	HP:0000023	Inguinal hernia	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000023	HP:0000023	Inguinal hernia	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0000023	HP:0000023	Inguinal hernia	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0000023	HP:0000023	Inguinal hernia	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0000023	HP:0000023	Inguinal hernia	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0000023	HP:0000023	Inguinal hernia	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0000023	HP:0000023	Inguinal hernia	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0000023	HP:0000023	Inguinal hernia	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000023	HP:0000023	Inguinal hernia	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0000023	HP:0000023	Inguinal hernia	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0000023	HP:0000023	Inguinal hernia	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0000023	HP:0000023	Inguinal hernia	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional	7
HP:0000023	HP:0000023	Inguinal hernia	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0000023	HP:0000023	Inguinal hernia	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000023	HP:0000023	Inguinal hernia	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0000023	HP:0000023	Inguinal hernia	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0000023	HP:0000023	Inguinal hernia	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000023	HP:0000023	Inguinal hernia	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000023	HP:0000023	Inguinal hernia	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000023	HP:0000023	Inguinal hernia	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0000023	HP:0000023	Inguinal hernia	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0000023	HP:0000023	Inguinal hernia	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	166
HP:0000023	HP:0000023	Inguinal hernia	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0000023	HP:0000023	Inguinal hernia	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0000023	HP:0000023	Inguinal hernia	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0000023	HP:0000023	Inguinal hernia	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.	48
HP:0000023	HP:0000023	Inguinal hernia	0	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY	.	1
HP:0000023	HP:0000023	Inguinal hernia	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0000023	HP:0000023	Inguinal hernia	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0000023	HP:0000023	Inguinal hernia	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0000023	HP:0000023	Inguinal hernia	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0000023	HP:0000023	Inguinal hernia	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0000023	HP:0000023	Inguinal hernia	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0000023	HP:0000023	Inguinal hernia	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000023	HP:0000023	Inguinal hernia	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional	452
HP:0000023	HP:0000023	Inguinal hernia	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0000023	HP:0000023	Inguinal hernia	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0000023	HP:0000023	Inguinal hernia	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent	144
HP:0000023	HP:0000023	Inguinal hernia	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0000023	HP:0000023	Inguinal hernia	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0000023	HP:0000023	Inguinal hernia	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0000023	HP:0000023	Inguinal hernia	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	544
HP:0000023	HP:0000023	Inguinal hernia	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0000023	HP:0000023	Inguinal hernia	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0000023	HP:0000023	Inguinal hernia	0	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:0000023	HP:0000023	Inguinal hernia	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0000023	HP:0000023	Inguinal hernia	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0000023	HP:0000023	Inguinal hernia	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0000023	HP:0000023	Inguinal hernia	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional	231
HP:0000023	HP:0000023	Inguinal hernia	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0000023	HP:0000023	Inguinal hernia	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent	77
HP:0000023	HP:0000023	Inguinal hernia	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0000023	HP:0000023	Inguinal hernia	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000023	HP:0000023	Inguinal hernia	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000023	HP:0000023	Inguinal hernia	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0000023	HP:0000023	Inguinal hernia	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0000023	HP:0000023	Inguinal hernia	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040281 - Very frequent	43
HP:0000023	HP:0000023	Inguinal hernia	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	3
HP:0000023	HP:0000023	Inguinal hernia	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.	4
HP:0000023	HP:0000023	Inguinal hernia	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0000023	HP:0000023	Inguinal hernia	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0000023	HP:0000023	Inguinal hernia	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.	45
HP:0000023	HP:0000023	Inguinal hernia	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0000023	HP:0000023	Inguinal hernia	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0000023	HP:0000023	Inguinal hernia	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0000023	HP:0000023	Inguinal hernia	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000023	HP:0000023	Inguinal hernia	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0000023	HP:0000023	Inguinal hernia	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0000023	HP:0000023	Inguinal hernia	0	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	HP:0040283 - Occasional	58
HP:0000023	HP:0000023	Inguinal hernia	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0000023	HP:0000023	Inguinal hernia	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent	6
HP:0000023	HP:0000023	Inguinal hernia	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0000023	HP:0000023	Inguinal hernia	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0000023	HP:0000023	Inguinal hernia	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0000023	HP:0000023	Inguinal hernia	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.	53
HP:0000023	HP:0000023	Inguinal hernia	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0000023	HP:0000023	Inguinal hernia	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000023	HP:0000023	Inguinal hernia	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000023	HP:0000023	Inguinal hernia	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000023	HP:0000023	Inguinal hernia	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0000023	HP:0000023	Inguinal hernia	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000023	HP:0000023	Inguinal hernia	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0000023	HP:0000023	Inguinal hernia	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0000023	HP:0000023	Inguinal hernia	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0000023	HP:0000023	Inguinal hernia	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	167
HP:0000023	HP:0000023	Inguinal hernia	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0000023	HP:0000023	Inguinal hernia	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0000023	HP:0000023	Inguinal hernia	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0000023	HP:0000023	Inguinal hernia	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000023	HP:0000023	Inguinal hernia	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0000023	HP:0000023	Inguinal hernia	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0000023	HP:0000023	Inguinal hernia	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000023	HP:0000023	Inguinal hernia	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0000023	HP:0000023	Inguinal hernia	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional	6
HP:0000023	HP:0000023	Inguinal hernia	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0000023	HP:0000023	Inguinal hernia	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0000023	HP:0000023	Inguinal hernia	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0000023	HP:0000023	Inguinal hernia	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0000023	HP:0000023	Inguinal hernia	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0000023	HP:0000023	Inguinal hernia	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040283 - Occasional	134
HP:0000023	HP:0000023	Inguinal hernia	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0000023	HP:0000023	Inguinal hernia	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0000023	HP:0000023	Inguinal hernia	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000023	HP:0000023	Inguinal hernia	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000023	HP:0000023	Inguinal hernia	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	150
HP:0000023	HP:0000023	Inguinal hernia	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0000023	HP:0000023	Inguinal hernia	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0000023	HP:0000023	Inguinal hernia	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	HP:0040284 - Very rare
HP:0000023	HP:0000023	Inguinal hernia	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0000023	HP:0000023	Inguinal hernia	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0000023	HP:0000023	Inguinal hernia	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0000023	HP:0000023	Inguinal hernia	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000023	HP:0000023	Inguinal hernia	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0000023	HP:0000023	Inguinal hernia	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0000023	HP:0000023	Inguinal hernia	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0000023	HP:0000023	Inguinal hernia	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0000023	HP:0000023	Inguinal hernia	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0000023	HP:0000023	Inguinal hernia	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0000023	HP:0000023	Inguinal hernia	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504
HP:0000023	HP:0000023	Inguinal hernia	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000023	HP:0000023	Inguinal hernia	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0000023	HP:0000023	Inguinal hernia	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome	HP:0040283 - Occasional	174
HP:0000023	HP:0000023	Inguinal hernia	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	174
HP:0000023	HP:0000023	Inguinal hernia	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000023	HP:0000023	Inguinal hernia	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0000023	HP:0000023	Inguinal hernia	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000023	HP:0000023	Inguinal hernia	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	1
HP:0000023	HP:0000023	Inguinal hernia	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000023	HP:0000023	Inguinal hernia	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000023	HP:0000023	Inguinal hernia	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0000023	HP:0000023	Inguinal hernia	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0000023	HP:0000023	Inguinal hernia	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0000023	HP:0000023	Inguinal hernia	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0000023	HP:0000023	Inguinal hernia	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0000023	HP:0000023	Inguinal hernia	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0000023	HP:0000023	Inguinal hernia	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0000023	HP:0000023	Inguinal hernia	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0000023	HP:0000023	Inguinal hernia	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0000023	HP:0000023	Inguinal hernia	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0000023	HP:0000023	Inguinal hernia	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0000023	HP:0000023	Inguinal hernia	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	HP:0040283 - Occasional	253
HP:0000023	HP:0000023	Inguinal hernia	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000023	HP:0000023	Inguinal hernia	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.	4
HP:0000023	HP:0000023	Inguinal hernia	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000023	HP:0000023	Inguinal hernia	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	166
HP:0000023	HP:0000023	Inguinal hernia	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0000023	HP:0000023	Inguinal hernia	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000023	HP:0000023	Inguinal hernia	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0000023	HP:0000023	Inguinal hernia	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040282 - Frequent	140
HP:0000023	HP:0000023	Inguinal hernia	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000023	HP:0000023	Inguinal hernia	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000023	HP:0000023	Inguinal hernia	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0000023	HP:0000023	Inguinal hernia	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0000023	HP:0000023	Inguinal hernia	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0000023	HP:0000023	Inguinal hernia	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000023	HP:0000023	Inguinal hernia	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000023	HP:0000023	Inguinal hernia	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0000023	HP:0000023	Inguinal hernia	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95
HP:0000023	HP:0000023	Inguinal hernia	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0000023	HP:0000023	Inguinal hernia	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0000023	HP:0000023	Inguinal hernia	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0000023	HP:0000023	Inguinal hernia	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0000023	HP:0000023	Inguinal hernia	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional	14
HP:0000023	HP:0000023	Inguinal hernia	0	ZEB1 CL E G H	6935	11642	OMIM:609141	Corneal dystrophy, posterior polymorphous, 3		8

Genes (278) :ABCD4 ACTA2 ADAMTS2 ADAMTSL2 ADNP AEBP1 AGA ALDH18A1 AMH AMHR2 AP1S2 APC2 AR ARID1A ARID1B ARPC4 ARSB ARVCF ARX ATAD1 ATP1A2 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A AUTS2 B3GAT3 B3GLCT BAZ1B BCL7B BCR BMPER BRAT1 BRF1 BUD23 C1R C1S CBS CC2D2A CCDC22 CDC42 CDKN1C CHRNG CHST14 CHST3 CLCN4 CLDN19 CLIP2 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COMT CREBBP CRKL CTCF CTNND2 CUL4B CWC27 DDX6 DGCR2 DGCR6 DGCR8 DIS3L2 DLK1 DLL3 DNAJC30 DPH1 DSE DVL1 DVL3 DYRK1A EED EFEMP2 EHMT1 EIF4H ELN ELOVL4 ESS2 EZH2 FANCB FARSB FBLN5 FBN1 FBXW11 FGD1 FGFR1 FIBP FKBP14 FKBP6 FLI1 FLNA FLNB FOCAD FOXE3 FZD2 G6PC3 GALNS GATA6 GDF1 GDF11 GLB1 GLI3 GLRA1 GNB2 GNE GNPTAB GNS GP1BB GPC3 GPC4 GPHN GRIN2B GTF2I GTF2IRD1 GTF2IRD2 GUSB H19 HES7 HEY2 HIRA HMGA2 HSPG2 IDS IDUA IFT122 IGF2 INPP5E IPO8 IRX5 ISL1 JMJD1C KCNQ1OT1 KDM3B KDM5B KIF7 KMT2C LDHD LFNG LIMK1 LOX LTBP1 LTBP4 MAF MAN2B1 MAPK1 MAPRE2 MAT2A MBTPS2 MDFIC MED12 MED25 MEG3 MEIS2 MESP2 METTL27 MFAP5 MID1 MLXIPL MYH11 MYH3 MYLK NAA10 NALCN NAT8L NCF1 NDUFA8 NEU1 NFIA NIPBL NOTCH1 NOTCH2 NOTCH3 NPHP3 NSD1 NXN OCRL ODC1 OFD1 P3H1 PACS1 PAFAH1B1 PHGDH PIEZO2 PIGQ PIGS PIGY PIK3R1 PLAG1 PLD1 PLOD1 PLOD2 POGZ POLR2A PORCN PPP2CA PPP2R1A PRDM5 PRKG1 PTDSS1 PUF60 PYCR1 RAB3GAP2 RFC2 RIC1 RIPK4 RIPPLY2 RNF13 ROR2 RPGRIP1L RPL10 RPS6KA3 RREB1 RTL1 SATB2 SEC24C SEC31A SEMA5A SERPINH1 SET SETBP1 SETD2 SGSH SH3PXD2B SHOC2 SHPK SIN3A SKI SKIC2 SKIC3 SLC10A7 SLC26A2 SLC2A10 SLC37A4 SLC5A6 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCB1 SMCHD1 SRCAP STRA6 STX1A SUZ12 TASP1 TBL2 TBX1 TBX3 TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TMCO1 TMEM107 TMEM270 TMEM67 TMEM70 TNRC6B TOR1A TP63 TRRAP TTC26 TUBB TXNL4A UBA1 UFD1 VPS37D WASHC5 WDR19 WDR35 WNT5A XRCC4 YWHAE ZEB1

Diseases (257) :OMIM:614857 ORPHA:91387 ORPHA:1901 OMIM:225410 ORPHA:404448 ORPHA:536532 OMIM:618000 ORPHA:93 ORPHA:90348 OMIM:219150 ORPHA:2856 OMIM:261550 ORPHA:1568 ORPHA:821 OMIM:300068 OMIM:614607 OMIM:135900 OMIM:620141 OMIM:253200 ORPHA:567 ORPHA:2508 OMIM:618011 OMIM:619602 ORPHA:357074 OMIM:219200 OMIM:278250 ORPHA:2834 OMIM:617403 ORPHA:565 ORPHA:198 ORPHA:352490 OMIM:615834 OMIM:245600 ORPHA:709 ORPHA:904 ORPHA:261330 OMIM:608022 OMIM:614498 ORPHA:444072 OMIM:130080 OMIM:617174 OMIM:236200 ORPHA:1454 ORPHA:7 ORPHA:487796 OMIM:616737 ORPHA:397590 ORPHA:2990 OMIM:265000 ORPHA:2953 ORPHA:485350 ORPHA:2196 ORPHA:1899 ORPHA:287 OMIM:619115 ORPHA:230851 OMIM:225320 OMIM:156550 OMIM:184250 OMIM:130050 ORPHA:286 OMIM:130000 OMIM:618332 ORPHA:363611 ORPHA:281 ORPHA:85293 ORPHA:166035 OMIM:618653 OMIM:192430 ORPHA:2849 ORPHA:254528 ORPHA:2311 ORPHA:459061 OMIM:615539 ORPHA:3107 OMIM:180700 ORPHA:268261 ORPHA:3447 ORPHA:90349 OMIM:614437 ORPHA:96147 ORPHA:261652 OMIM:123700 OMIM:194050 OMIM:614457 OMIM:277590 ORPHA:3412 OMIM:613658 OMIM:219100 ORPHA:2462 OMIM:618914 ORPHA:915 OMIM:305400 OMIM:166250 ORPHA:2645 ORPHA:500095 OMIM:614557 ORPHA:2308 ORPHA:75497 OMIM:272460 OMIM:619991 OMIM:612541 OMIM:253000 OMIM:600001 OMIM:208530 OMIM:619122 OMIM:230500 OMIM:253010 ORPHA:36 OMIM:175700 ORPHA:672 OMIM:149400 OMIM:619503 OMIM:269921 OMIM:252500 ORPHA:576 OMIM:252940 ORPHA:373 OMIM:312870 OMIM:613970 ORPHA:584 ORPHA:2128 ORPHA:800 OMIM:255800 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:607014 OMIM:607015 OMIM:218330 OMIM:619472 OMIM:611174 ORPHA:93930 OMIM:618846 OMIM:618109 OMIM:200990 OMIM:607131 OMIM:245450 OMIM:619451 OMIM:613177 ORPHA:1272 OMIM:248500 ORPHA:2505 ORPHA:2273 OMIM:308205 OMIM:620014 ORPHA:93932 OMIM:300895 OMIM:305450 ORPHA:464738 ORPHA:261190 ORPHA:2745 OMIM:300000 OMIM:193700 OMIM:300855 ORPHA:276432 OMIM:616266 OMIM:614063 OMIM:619272 ORPHA:93400 ORPHA:93399 OMIM:256550 OMIM:613735 OMIM:122470 OMIM:616028 ORPHA:955 OMIM:102500 ORPHA:2789 OMIM:130720 OMIM:267010 ORPHA:1507 ORPHA:534 ORPHA:544488 OMIM:300209 OMIM:610915 ORPHA:329224 ORPHA:217385 ORPHA:79351 ORPHA:1154 OMIM:248700 OMIM:618548 OMIM:618143 OMIM:616809 OMIM:269880 ORPHA:3163 OMIM:212093 OMIM:225400 ORPHA:1900 OMIM:609220 ORPHA:468678 OMIM:618603 ORPHA:2092 OMIM:305600 OMIM:618354 ORPHA:457284 OMIM:614170 ORPHA:2658 OMIM:151050 ORPHA:508488 OMIM:612940 OMIM:614438 OMIM:212720 OMIM:618761 OMIM:263650 OMIM:618379 ORPHA:544503 OMIM:268310 OMIM:300998 ORPHA:459070 OMIM:303600 OMIM:612313 OMIM:618651 OMIM:613848 OMIM:618106 ORPHA:798 OMIM:252900 ORPHA:137834 OMIM:607721 ORPHA:440713 OMIM:613406 OMIM:182212 ORPHA:84064 OMIM:618363 OMIM:600972 ORPHA:3342 OMIM:208050 OMIM:619525 OMIM:619903 ORPHA:284984 OMIM:613795 ORPHA:2588 OMIM:601358 OMIM:614608 OMIM:603457 ORPHA:2250 OMIM:136140 OMIM:601186 OMIM:618950 OMIM:188400 OMIM:181450 OMIM:616145 OMIM:614816 OMIM:615582 OMIM:610168 OMIM:213980 OMIM:617563 OMIM:614052 OMIM:619243 OMIM:618947 OMIM:618454 OMIM:619534 OMIM:608572 OMIM:301830 OMIM:614376 OMIM:613610 OMIM:616541 OMIM:609141

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen