Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abdominal wall defect (HP:0010866)

Grandparent Node:
Hernia (HP:0100790)

Parent Node:
Abnormal umbilicus morphology (HP:0001551)

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

..Starting node
..Umbilical hernia (HP:0001537)

Term ID:

1537

Name:

Umbilical hernia

Synonym:

Umbilical hernias

Definition:

Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.

Comments:

Reference:

HP:0001537

Genes and Diseases:

Child Nodes:

Sister Nodes:

Femoral hernia (HP:0100541)

Incisional hernia (HP:0004872)

Inguinal hernia (HP:0000023)

Omphalocele (HP:0001539)

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:0001537	HP:0001537	Umbilical hernia	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	245
HP:0001537	HP:0001537	Umbilical hernia	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0001537	HP:0001537	Umbilical hernia	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0001537	HP:0001537	Umbilical hernia	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional	23
HP:0001537	HP:0001537	Umbilical hernia	0	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	23
HP:0001537	HP:0001537	Umbilical hernia	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0001537	HP:0001537	Umbilical hernia	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare	47
HP:0001537	HP:0001537	Umbilical hernia	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040282 - Frequent
HP:0001537	HP:0001537	Umbilical hernia	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0001537	HP:0001537	Umbilical hernia	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent	76
HP:0001537	HP:0001537	Umbilical hernia	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0001537	HP:0001537	Umbilical hernia	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0001537	HP:0001537	Umbilical hernia	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0001537	HP:0001537	Umbilical hernia	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040282 - Frequent	8
HP:0001537	HP:0001537	Umbilical hernia	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0001537	HP:0001537	Umbilical hernia	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0001537	HP:0001537	Umbilical hernia	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0001537	HP:0001537	Umbilical hernia	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0001537	HP:0001537	Umbilical hernia	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0001537	HP:0001537	Umbilical hernia	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent
HP:0001537	HP:0001537	Umbilical hernia	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0001537	HP:0001537	Umbilical hernia	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0001537	HP:0001537	Umbilical hernia	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0001537	HP:0001537	Umbilical hernia	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent	192
HP:0001537	HP:0001537	Umbilical hernia	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0001537	HP:0001537	Umbilical hernia	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0001537	HP:0001537	Umbilical hernia	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0001537	HP:0001537	Umbilical hernia	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0001537	HP:0001537	Umbilical hernia	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0001537	HP:0001537	Umbilical hernia	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0001537	HP:0001537	Umbilical hernia	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	HP:0040283 - Occasional	101
HP:0001537	HP:0001537	Umbilical hernia	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional	49
HP:0001537	HP:0001537	Umbilical hernia	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0001537	HP:0001537	Umbilical hernia	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0001537	HP:0001537	Umbilical hernia	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0001537	HP:0001537	Umbilical hernia	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0001537	HP:0001537	Umbilical hernia	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0001537	HP:0001537	Umbilical hernia	0	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	.	7
HP:0001537	HP:0001537	Umbilical hernia	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	118
HP:0001537	HP:0001537	Umbilical hernia	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0001537	HP:0001537	Umbilical hernia	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	4
HP:0001537	HP:0001537	Umbilical hernia	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040284 - Very rare	2
HP:0001537	HP:0001537	Umbilical hernia	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	405
HP:0001537	HP:0001537	Umbilical hernia	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0001537	HP:0001537	Umbilical hernia	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0001537	HP:0001537	Umbilical hernia	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0001537	HP:0001537	Umbilical hernia	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0001537	HP:0001537	Umbilical hernia	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0001537	HP:0001537	Umbilical hernia	0	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:0001537	HP:0001537	Umbilical hernia	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0001537	HP:0001537	Umbilical hernia	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0001537	HP:0001537	Umbilical hernia	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0001537	HP:0001537	Umbilical hernia	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0001537	HP:0001537	Umbilical hernia	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.	660
HP:0001537	HP:0001537	Umbilical hernia	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0001537	HP:0001537	Umbilical hernia	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	3
HP:0001537	HP:0001537	Umbilical hernia	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	9
HP:0001537	HP:0001537	Umbilical hernia	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0001537	HP:0001537	Umbilical hernia	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0001537	HP:0001537	Umbilical hernia	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001537	HP:0001537	Umbilical hernia	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001537	HP:0001537	Umbilical hernia	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001537	HP:0001537	Umbilical hernia	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional	1
HP:0001537	HP:0001537	Umbilical 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:0001537	HP:0001537	Umbilical hernia	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0001537	HP:0001537	Umbilical hernia	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0001537	HP:0001537	Umbilical hernia	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare	44
HP:0001537	HP:0001537	Umbilical hernia	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0001537	HP:0001537	Umbilical hernia	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	79
HP:0001537	HP:0001537	Umbilical hernia	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	121
HP:0001537	HP:0001537	Umbilical hernia	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional	121
HP:0001537	HP:0001537	Umbilical hernia	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	11
HP:0001537	HP:0001537	Umbilical hernia	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0001537	HP:0001537	Umbilical hernia	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0001537	HP:0001537	Umbilical hernia	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2	HP:0040283 - Occasional	14
HP:0001537	HP:0001537	Umbilical hernia	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0001537	HP:0001537	Umbilical hernia	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0001537	HP:0001537	Umbilical hernia	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0001537	HP:0001537	Umbilical hernia	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	223
HP:0001537	HP:0001537	Umbilical hernia	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	.	3
HP:0001537	HP:0001537	Umbilical hernia	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0001537	HP:0001537	Umbilical hernia	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0001537	HP:0001537	Umbilical hernia	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0001537	HP:0001537	Umbilical hernia	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	HP:0040283 - Occasional	4
HP:0001537	HP:0001537	Umbilical hernia	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0001537	HP:0001537	Umbilical hernia	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0001537	HP:0001537	Umbilical hernia	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0001537	HP:0001537	Umbilical hernia	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0001537	HP:0001537	Umbilical hernia	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0001537	HP:0001537	Umbilical hernia	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0001537	HP:0001537	Umbilical hernia	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0001537	HP:0001537	Umbilical hernia	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0001537	HP:0001537	Umbilical hernia	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0001537	HP:0001537	Umbilical hernia	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001537	HP:0001537	Umbilical hernia	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0001537	HP:0001537	Umbilical hernia	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001537	HP:0001537	Umbilical hernia	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0001537	HP:0001537	Umbilical hernia	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0001537	HP:0001537	Umbilical hernia	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0001537	HP:0001537	Umbilical hernia	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0001537	HP:0001537	Umbilical hernia	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	1361
HP:0001537	HP:0001537	Umbilical hernia	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0001537	HP:0001537	Umbilical hernia	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001537	HP:0001537	Umbilical hernia	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040281 - Very frequent	62
HP:0001537	HP:0001537	Umbilical hernia	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040283 - Occasional	175
HP:0001537	HP:0001537	Umbilical hernia	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040283 - Occasional	13
HP:0001537	HP:0001537	Umbilical hernia	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent	493
HP:0001537	HP:0001537	Umbilical hernia	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001537	HP:0001537	Umbilical hernia	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0001537	HP:0001537	Umbilical hernia	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0001537	HP:0001537	Umbilical hernia	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0001537	HP:0001537	Umbilical hernia	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0001537	HP:0001537	Umbilical hernia	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0001537	HP:0001537	Umbilical hernia	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare	37
HP:0001537	HP:0001537	Umbilical hernia	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0001537	HP:0001537	Umbilical hernia	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040283 - Occasional	270
HP:0001537	HP:0001537	Umbilical hernia	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0001537	HP:0001537	Umbilical hernia	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0001537	HP:0001537	Umbilical hernia	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional	143
HP:0001537	HP:0001537	Umbilical hernia	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent	63
HP:0001537	HP:0001537	Umbilical hernia	0	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.	63
HP:0001537	HP:0001537	Umbilical hernia	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent	46
HP:0001537	HP:0001537	Umbilical hernia	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0001537	HP:0001537	Umbilical hernia	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	36
HP:0001537	HP:0001537	Umbilical hernia	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0001537	HP:0001537	Umbilical hernia	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040281 - Very frequent	240
HP:0001537	HP:0001537	Umbilical hernia	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0001537	HP:0001537	Umbilical hernia	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0001537	HP:0001537	Umbilical hernia	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001537	HP:0001537	Umbilical hernia	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0001537	HP:0001537	Umbilical hernia	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001537	HP:0001537	Umbilical hernia	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0001537	HP:0001537	Umbilical hernia	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent	18
HP:0001537	HP:0001537	Umbilical hernia	0	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.	18
HP:0001537	HP:0001537	Umbilical hernia	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	108
HP:0001537	HP:0001537	Umbilical hernia	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0001537	HP:0001537	Umbilical hernia	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0001537	HP:0001537	Umbilical hernia	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0001537	HP:0001537	Umbilical hernia	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001537	HP:0001537	Umbilical hernia	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001537	HP:0001537	Umbilical hernia	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001537	HP:0001537	Umbilical hernia	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001537	HP:0001537	Umbilical hernia	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent	54
HP:0001537	HP:0001537	Umbilical hernia	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0001537	HP:0001537	Umbilical hernia	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	4
HP:0001537	HP:0001537	Umbilical hernia	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001537	HP:0001537	Umbilical hernia	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0001537	HP:0001537	Umbilical hernia	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	6
HP:0001537	HP:0001537	Umbilical hernia	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0001537	HP:0001537	Umbilical hernia	0	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:0001537	HP:0001537	Umbilical hernia	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0001537	HP:0001537	Umbilical hernia	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0001537	HP:0001537	Umbilical hernia	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0001537	HP:0001537	Umbilical hernia	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0001537	HP:0001537	Umbilical hernia	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001537	HP:0001537	Umbilical hernia	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0001537	HP:0001537	Umbilical hernia	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0001537	HP:0001537	Umbilical hernia	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0001537	HP:0001537	Umbilical hernia	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0001537	HP:0001537	Umbilical hernia	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0001537	HP:0001537	Umbilical hernia	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.	115
HP:0001537	HP:0001537	Umbilical hernia	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0001537	HP:0001537	Umbilical hernia	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	9
HP:0001537	HP:0001537	Umbilical hernia	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0001537	HP:0001537	Umbilical hernia	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001537	HP:0001537	Umbilical hernia	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	99
HP:0001537	HP:0001537	Umbilical hernia	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	2
HP:0001537	HP:0001537	Umbilical hernia	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	130
HP:0001537	HP:0001537	Umbilical hernia	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0001537	HP:0001537	Umbilical hernia	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	145
HP:0001537	HP:0001537	Umbilical hernia	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0001537	HP:0001537	Umbilical hernia	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	127
HP:0001537	HP:0001537	Umbilical hernia	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0001537	HP:0001537	Umbilical hernia	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001537	HP:0001537	Umbilical hernia	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0001537	HP:0001537	Umbilical hernia	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	99
HP:0001537	HP:0001537	Umbilical hernia	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0001537	HP:0001537	Umbilical hernia	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0001537	HP:0001537	Umbilical hernia	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001537	HP:0001537	Umbilical hernia	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0001537	HP:0001537	Umbilical hernia	0	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:0001537	HP:0001537	Umbilical hernia	0	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:0001537	HP:0001537	Umbilical hernia	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0001537	HP:0001537	Umbilical hernia	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040282 - Frequent	289
HP:0001537	HP:0001537	Umbilical hernia	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0001537	HP:0001537	Umbilical hernia	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0001537	HP:0001537	Umbilical hernia	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0001537	HP:0001537	Umbilical hernia	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0001537	HP:0001537	Umbilical hernia	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	21
HP:0001537	HP:0001537	Umbilical hernia	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0001537	HP:0001537	Umbilical hernia	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0001537	HP:0001537	Umbilical hernia	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0001537	HP:0001537	Umbilical hernia	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0001537	HP:0001537	Umbilical hernia	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0001537	HP:0001537	Umbilical hernia	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional	1
HP:0001537	HP:0001537	Umbilical 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:0001537	HP:0001537	Umbilical hernia	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional	13
HP:0001537	HP:0001537	Umbilical hernia	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional	13
HP:0001537	HP:0001537	Umbilical hernia	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0001537	HP:0001537	Umbilical hernia	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001537	HP:0001537	Umbilical hernia	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0001537	HP:0001537	Umbilical hernia	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0001537	HP:0001537	Umbilical hernia	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001537	HP:0001537	Umbilical hernia	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0001537	HP:0001537	Umbilical hernia	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0001537	HP:0001537	Umbilical hernia	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	12
HP:0001537	HP:0001537	Umbilical hernia	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0001537	HP:0001537	Umbilical hernia	0	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	418
HP:0001537	HP:0001537	Umbilical hernia	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0001537	HP:0001537	Umbilical hernia	0	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional	326
HP:0001537	HP:0001537	Umbilical hernia	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001537	HP:0001537	Umbilical hernia	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.	48
HP:0001537	HP:0001537	Umbilical hernia	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0001537	HP:0001537	Umbilical hernia	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	4
HP:0001537	HP:0001537	Umbilical hernia	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0001537	HP:0001537	Umbilical hernia	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0001537	HP:0001537	Umbilical hernia	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0001537	HP:0001537	Umbilical hernia	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0001537	HP:0001537	Umbilical hernia	0	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent	90
HP:0001537	HP:0001537	Umbilical hernia	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional	452
HP:0001537	HP:0001537	Umbilical hernia	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0001537	HP:0001537	Umbilical hernia	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0001537	HP:0001537	Umbilical hernia	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0001537	HP:0001537	Umbilical hernia	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent	144
HP:0001537	HP:0001537	Umbilical hernia	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0001537	HP:0001537	Umbilical hernia	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.	34
HP:0001537	HP:0001537	Umbilical hernia	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0001537	HP:0001537	Umbilical hernia	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0001537	HP:0001537	Umbilical hernia	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2	HP:0040283 - Occasional	88
HP:0001537	HP:0001537	Umbilical hernia	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0001537	HP:0001537	Umbilical hernia	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0001537	HP:0001537	Umbilical hernia	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0001537	HP:0001537	Umbilical hernia	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0001537	HP:0001537	Umbilical hernia	0	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent	63
HP:0001537	HP:0001537	Umbilical hernia	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0001537	HP:0001537	Umbilical hernia	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0001537	HP:0001537	Umbilical hernia	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0001537	HP:0001537	Umbilical hernia	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001537	HP:0001537	Umbilical hernia	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0001537	HP:0001537	Umbilical hernia	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0001537	HP:0001537	Umbilical hernia	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001537	HP:0001537	Umbilical hernia	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0001537	HP:0001537	Umbilical 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:0001537	HP:0001537	Umbilical hernia	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	244
HP:0001537	HP:0001537	Umbilical hernia	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0001537	HP:0001537	Umbilical hernia	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0001537	HP:0001537	Umbilical hernia	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0001537	HP:0001537	Umbilical hernia	0	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:0001537	HP:0001537	Umbilical hernia	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0001537	HP:0001537	Umbilical hernia	0	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	HP:0040283 - Occasional	58
HP:0001537	HP:0001537	Umbilical hernia	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001537	HP:0001537	Umbilical hernia	0	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:0001537	HP:0001537	Umbilical hernia	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0001537	HP:0001537	Umbilical hernia	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0001537	HP:0001537	Umbilical hernia	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional	31
HP:0001537	HP:0001537	Umbilical hernia	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0001537	HP:0001537	Umbilical hernia	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0001537	HP:0001537	Umbilical hernia	0	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:0001537	HP:0001537	Umbilical hernia	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0001537	HP:0001537	Umbilical hernia	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0001537	HP:0001537	Umbilical hernia	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	HP:0040283 - Occasional	43
HP:0001537	HP:0001537	Umbilical hernia	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040282 - Frequent	43
HP:0001537	HP:0001537	Umbilical hernia	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0001537	HP:0001537	Umbilical hernia	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001537	HP:0001537	Umbilical hernia	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001537	HP:0001537	Umbilical hernia	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0001537	HP:0001537	Umbilical hernia	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0001537	HP:0001537	Umbilical hernia	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0001537	HP:0001537	Umbilical hernia	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0001537	HP:0001537	Umbilical hernia	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	126
HP:0001537	HP:0001537	Umbilical hernia	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	427
HP:0001537	HP:0001537	Umbilical hernia	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001537	HP:0001537	Umbilical hernia	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0001537	HP:0001537	Umbilical hernia	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0001537	HP:0001537	Umbilical hernia	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0001537	HP:0001537	Umbilical hernia	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040283 - Occasional	134
HP:0001537	HP:0001537	Umbilical hernia	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional	53
HP:0001537	HP:0001537	Umbilical hernia	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	11
HP:0001537	HP:0001537	Umbilical hernia	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0001537	HP:0001537	Umbilical hernia	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent	150
HP:0001537	HP:0001537	Umbilical hernia	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0001537	HP:0001537	Umbilical hernia	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001537	HP:0001537	Umbilical hernia	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040282 - Frequent
HP:0001537	HP:0001537	Umbilical hernia	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0001537	HP:0001537	Umbilical hernia	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040282 - Frequent	166
HP:0001537	HP:0001537	Umbilical hernia	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0001537	HP:0001537	Umbilical hernia	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0001537	HP:0001537	Umbilical hernia	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0001537	HP:0001537	Umbilical hernia	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0001537	HP:0001537	Umbilical hernia	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	59
HP:0001537	HP:0001537	Umbilical hernia	0	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1	.	59
HP:0001537	HP:0001537	Umbilical hernia	0	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent	81
HP:0001537	HP:0001537	Umbilical hernia	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0001537	HP:0001537	Umbilical hernia	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0001537	HP:0001537	Umbilical hernia	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0001537	HP:0001537	Umbilical hernia	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0001537	HP:0001537	Umbilical hernia	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.	3
HP:0001537	HP:0001537	Umbilical hernia	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0001537	HP:0001537	Umbilical hernia	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0001537	HP:0001537	Umbilical hernia	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0001537	HP:0001537	Umbilical hernia	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0001537	HP:0001537	Umbilical hernia	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0001537	HP:0001537	Umbilical hernia	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0001537	HP:0001537	Umbilical hernia	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0001537	HP:0001537	Umbilical hernia	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0001537	HP:0001537	Umbilical hernia	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001537	HP:0001537	Umbilical hernia	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	155
HP:0001537	HP:0001537	Umbilical hernia	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0001537	HP:0001537	Umbilical hernia	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	HP:0040283 - Occasional	253
HP:0001537	HP:0001537	Umbilical hernia	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0001537	HP:0001537	Umbilical hernia	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0001537	HP:0001537	Umbilical hernia	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	140
HP:0001537	HP:0001537	Umbilical hernia	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	140
HP:0001537	HP:0001537	Umbilical hernia	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	92
HP:0001537	HP:0001537	Umbilical hernia	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0001537	HP:0001537	Umbilical hernia	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0001537	HP:0001537	Umbilical hernia	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040282 - Frequent	133
HP:0001537	HP:0001537	Umbilical hernia	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0001537	HP:0001537	Umbilical hernia	0	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.	9
HP:0001537	HP:0001537	Umbilical hernia	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0001537	HP:0001537	Umbilical hernia	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional	97
HP:0001537	HP:0001537	Umbilical hernia	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0001537	HP:0001537	Umbilical hernia	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0001537	HP:0001537	Umbilical hernia	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0001537	HP:0001537	Umbilical hernia	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001537	HP:0001537	Umbilical hernia	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0001537	HP:0001537	Umbilical hernia	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0001537	HP:0001537	Umbilical hernia	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0001537	HP:0001537	Umbilical hernia	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	9
HP:0001537	HP:0001537	Umbilical hernia	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001537	HP:0001537	Umbilical hernia	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	30

Genes (288) :ABCC8 ABCC9 ACTG2 ADAMTS2 ADNP AEBP1 AGA AGPAT2 ALDH18A1 ANTXR1 APC2 ARID1B ARSB ARVCF ARX ATAD1 ATP6V0A2 ATP7A ATRX AUTS2 B3GLCT BAZ1B BCL11B BCL7B BCOR BMP1 BRCA1 BRCA2 BRIP1 BSCL2 BUD23 C1R C1S CARS1 CASK CCBE1 CDCA7 CDH11 CDKL5 CHAMP1 CHD7 CHRNG CHST14 CLDN19 CLIP2 COL1A1 COL2A1 COL3A1 COL5A1 COL5A2 COLEC10 COLEC11 COMT CREBBP DGCR2 DGCR6 DGCR8 DLK1 DLL3 DMXL2 DNAJC30 DNMT3A DNMT3B DUOX2 DUOXA2 DVL1 DVL3 EED EFNB1 EHMT1 EIF4H ELMO2 ELN EN1 EOGT ERCC2 ERCC3 ERCC4 ESS2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBLN5 FBN1 FBXW11 FGD1 FGFR2 FKBP14 FKBP6 FLNA FOCAD FRAS1 FREM2 FTO FZD2 GATA6 GJA1 GLI3 GLIS3 GLRA1 GLRB GMNN GNAO1 GNPTAB GP1BB GPC3 GPC4 GPC6 GPHN GRIN1 GRIP1 GRM7 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB H19 H4C3 HDAC4 HELLS HES7 HESX1 HIRA HIVEP2 HSPG2 HYMAI IDS IDUA IFT140 IGF2 IKBKG IPO8 IRF6 ISL1 IYD JMJD1C KCNA1 KCNH1 KCNJ11 KCNJ8 KDM3B KIF7 KMT2C KNSTRN LBR LFNG LHX3 LHX4 LIMK1 LMOD1 LRP2 LTBP4 MAD2L2 MAN2B1 MAPRE2 MASP1 MBTPS2 MED12 MED13L MEG3 MEGF8 MESP2 METTL27 MID1 MLXIPL MPLKIP MSX1 MTOR MYH11 MYH3 MYLK NAA10 NALCN NCF1 NECTIN1 NEU1 NEUROD2 NFIX NKX2-5 NOTCH1 NOTCH2 NOTCH3 NSD1 NSDHL NXN OCLN OCRL PACS1 PALB2 PAX8 PHGDH PIGP PIGQ PIGS PIK3CD PLAGL1 PLOD1 PNKP POLR3GL PORCN POU1F1 PPP2CA PRDM5 PRKG2 PROP1 PRR12 PTCH1 RAB23 RAC1 RAD51 RAD51C RFC2 RFWD3 RIN2 RIPPLY2 RNF113A RNF2 ROR2 RREB1 RTL1 SALL1 SCN1B SCN2A SEC24C SEC31A SETBP1 SETD2 SGSH SH3PXD2B SHANK3 SIK1 SKI SLC25A22 SLC25A24 SLC26A2 SLC2A10 SLC35C1 SLC35D1 SLC5A5 SLC6A5 SLX4 SMAD3 SMARCA2 SNIP1 SOX6 SPECC1L SRCAP STX1A SUZ12 TARS1 TBL2 TBX1 TENT5A TFE3 TG TGDS TGFBR2 TMEM270 TMEM70 TOR1A TP63 TPO TRAF7 TRIM8 TRIP11 TRRAP TSHB TSHR TUBB TWIST2 UBE2T UFD1 VPS37D WNT5A XRCC2 ZBTB24 ZBTB7A ZFP57

Diseases (213) :ORPHA:99886 OMIM:239850 ORPHA:1517 ORPHA:2604 ORPHA:2241 OMIM:225410 ORPHA:404448 ORPHA:536532 OMIM:618000 ORPHA:93 OMIM:608594 OMIM:219150 OMIM:230740 ORPHA:2067 ORPHA:821 OMIM:135900 OMIM:253200 ORPHA:567 ORPHA:1934 ORPHA:3197 OMIM:618011 OMIM:278250 ORPHA:2834 ORPHA:565 OMIM:301040 ORPHA:352490 OMIM:615834 ORPHA:709 OMIM:261540 ORPHA:904 OMIM:617237 OMIM:300166 OMIM:614856 ORPHA:84 OMIM:269700 OMIM:130080 OMIM:617174 ORPHA:33364 OMIM:235510 ORPHA:2268 ORPHA:1299 OMIM:616579 OMIM:214800 ORPHA:2990 OMIM:265000 OMIM:601776 ORPHA:2196 ORPHA:287 OMIM:156550 ORPHA:286 OMIM:130000 ORPHA:293843 OMIM:618332 OMIM:192430 ORPHA:254534 ORPHA:254528 ORPHA:2311 ORPHA:404443 OMIM:615879 ORPHA:95716 ORPHA:226316 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:617561 OMIM:304110 ORPHA:261652 OMIM:606893 OMIM:194050 OMIM:619218 OMIM:615297 OMIM:277590 OMIM:219100 ORPHA:2462 OMIM:608328 OMIM:618914 ORPHA:915 ORPHA:1555 OMIM:614557 ORPHA:75497 OMIM:619991 ORPHA:2052 OMIM:612938 OMIM:600001 ORPHA:2255 ORPHA:2710 ORPHA:380 OMIM:175700 ORPHA:672 OMIM:610199 OMIM:149400 OMIM:616835 OMIM:252500 ORPHA:576 ORPHA:373 OMIM:312870 OMIM:258315 ORPHA:584 OMIM:253220 ORPHA:231144 OMIM:619758 ORPHA:1001 ORPHA:226307 OMIM:616977 ORPHA:800 OMIM:255800 ORPHA:96191 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:607014 OMIM:607015 OMIM:266920 ORPHA:464 OMIM:619472 ORPHA:199302 ORPHA:93930 OMIM:135500 OMIM:618846 OMIM:200990 ORPHA:221139 OMIM:613328 OMIM:169400 OMIM:222448 ORPHA:2143 OMIM:613177 ORPHA:309282 ORPHA:2505 OMIM:308205 ORPHA:93932 OMIM:301068 OMIM:305450 ORPHA:369891 ORPHA:65759 OMIM:614976 ORPHA:2745 OMIM:300000 OMIM:616638 OMIM:300855 OMIM:616266 ORPHA:93400 ORPHA:93399 OMIM:602535 ORPHA:95712 OMIM:616028 OMIM:102500 ORPHA:955 OMIM:130720 ORPHA:2789 OMIM:308050 ORPHA:1507 OMIM:251290 OMIM:300555 ORPHA:534 ORPHA:329224 OMIM:218700 ORPHA:79351 OMIM:618143 ORPHA:1900 OMIM:619234 ORPHA:2092 OMIM:305600 OMIM:618354 OMIM:614170 OMIM:619636 OMIM:619539 ORPHA:77301 OMIM:201000 OMIM:617751 ORPHA:500159 OMIM:613075 ORPHA:217335 OMIM:619460 OMIM:268310 OMIM:107480 OMIM:618651 ORPHA:798 OMIM:252900 ORPHA:137834 ORPHA:48652 OMIM:182212 OMIM:612289 ORPHA:2095 ORPHA:2963 ORPHA:93298 OMIM:600972 OMIM:208050 ORPHA:99843 OMIM:269250 OMIM:274400 ORPHA:284984 OMIM:613795 OMIM:601358 OMIM:614501 OMIM:618971 ORPHA:1519 OMIM:136140 OMIM:618786 OMIM:188400 OMIM:617952 OMIM:301066 OMIM:616145 OMIM:610168 OMIM:614052 OMIM:618947 OMIM:618164 ORPHA:93299 OMIM:618454 OMIM:275100 ORPHA:90674 ORPHA:90673 ORPHA:920 OMIM:619769

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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