Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abnormal heart valve physiology (HP:0031653)

Parent Node:
Abnormal aortic valve physiology (HP:0031652)

..Starting node
..Aortic regurgitation (HP:0001659)

Term ID:

1659

Name:

Aortic regurgitation

Synonym:

Aortic insufficiency; Aortic valve regurgitation

Definition:

An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.

Comments:

Reference:

HP:0001659

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aortic valve stenosis (HP:0001650)

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:0001659	HP:0001659	Aortic regurgitation	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	94
HP:0001659	HP:0001659	Aortic regurgitation	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0001659	HP:0001659	Aortic regurgitation	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0001659	HP:0001659	Aortic regurgitation	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	HP:0040283 - Occasional	89
HP:0001659	HP:0001659	Aortic regurgitation	0	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0001659	HP:0001659	Aortic regurgitation	0	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	179
HP:0001659	HP:0001659	Aortic regurgitation	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001659	HP:0001659	Aortic regurgitation	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0001659	HP:0001659	Aortic regurgitation	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0001659	HP:0001659	Aortic regurgitation	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0001659	HP:0001659	Aortic regurgitation	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0001659	HP:0001659	Aortic regurgitation	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0001659	HP:0001659	Aortic regurgitation	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0001659	HP:0001659	Aortic regurgitation	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001659	HP:0001659	Aortic regurgitation	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040283 - Occasional	7
HP:0001659	HP:0001659	Aortic regurgitation	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001659	HP:0001659	Aortic regurgitation	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0001659	HP:0001659	Aortic regurgitation	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0001659	HP:0001659	Aortic regurgitation	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0001659	HP:0001659	Aortic regurgitation	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0001659	HP:0001659	Aortic regurgitation	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0001659	HP:0001659	Aortic regurgitation	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0001659	HP:0001659	Aortic regurgitation	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0001659	HP:0001659	Aortic regurgitation	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001659	HP:0001659	Aortic regurgitation	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.	102
HP:0001659	HP:0001659	Aortic regurgitation	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001659	HP:0001659	Aortic regurgitation	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare	134
HP:0001659	HP:0001659	Aortic regurgitation	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare	134
HP:0001659	HP:0001659	Aortic regurgitation	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0001659	HP:0001659	Aortic regurgitation	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0001659	HP:0001659	Aortic regurgitation	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1	.	172
HP:0001659	HP:0001659	Aortic regurgitation	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	172
HP:0001659	HP:0001659	Aortic regurgitation	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001659	HP:0001659	Aortic regurgitation	0	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	36
HP:0001659	HP:0001659	Aortic regurgitation	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0001659	HP:0001659	Aortic regurgitation	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0001659	HP:0001659	Aortic regurgitation	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	1361
HP:0001659	HP:0001659	Aortic regurgitation	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0001659	HP:0001659	Aortic regurgitation	0	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked	.	493
HP:0001659	HP:0001659	Aortic regurgitation	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0001659	HP:0001659	Aortic regurgitation	0	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	493
HP:0001659	HP:0001659	Aortic regurgitation	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	23
HP:0001659	HP:0001659	Aortic regurgitation	0	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2		87
HP:0001659	HP:0001659	Aortic regurgitation	0	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	10
HP:0001659	HP:0001659	Aortic regurgitation	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0001659	HP:0001659	Aortic regurgitation	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0001659	HP:0001659	Aortic regurgitation	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0001659	HP:0001659	Aortic regurgitation	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.	240
HP:0001659	HP:0001659	Aortic regurgitation	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0001659	HP:0001659	Aortic regurgitation	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.	57
HP:0001659	HP:0001659	Aortic regurgitation	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2	HP:0040283 - Occasional	185
HP:0001659	HP:0001659	Aortic regurgitation	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001659	HP:0001659	Aortic regurgitation	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent
HP:0001659	HP:0001659	Aortic regurgitation	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0001659	HP:0001659	Aortic regurgitation	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040283 - Occasional	4
HP:0001659	HP:0001659	Aortic regurgitation	0	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1	.	4
HP:0001659	HP:0001659	Aortic regurgitation	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0001659	HP:0001659	Aortic regurgitation	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.	115
HP:0001659	HP:0001659	Aortic regurgitation	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.	115
HP:0001659	HP:0001659	Aortic regurgitation	0	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome	HP:0040281 - Very frequent	115
HP:0001659	HP:0001659	Aortic regurgitation	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0001659	HP:0001659	Aortic regurgitation	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001659	HP:0001659	Aortic regurgitation	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001659	HP:0001659	Aortic regurgitation	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001659	HP:0001659	Aortic regurgitation	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001659	HP:0001659	Aortic regurgitation	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001659	HP:0001659	Aortic regurgitation	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0001659	HP:0001659	Aortic regurgitation	0	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0001659	HP:0001659	Aortic regurgitation	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	6
HP:0001659	HP:0001659	Aortic regurgitation	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040284 - Very rare	136
HP:0001659	HP:0001659	Aortic regurgitation	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040284 - Very rare	136
HP:0001659	HP:0001659	Aortic regurgitation	0	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0001659	HP:0001659	Aortic regurgitation	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0001659	HP:0001659	Aortic regurgitation	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	13
HP:0001659	HP:0001659	Aortic regurgitation	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0001659	HP:0001659	Aortic regurgitation	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	11
HP:0001659	HP:0001659	Aortic regurgitation	0	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4	.	418
HP:0001659	HP:0001659	Aortic regurgitation	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent	418
HP:0001659	HP:0001659	Aortic regurgitation	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	418
HP:0001659	HP:0001659	Aortic regurgitation	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	326
HP:0001659	HP:0001659	Aortic regurgitation	0	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	30
HP:0001659	HP:0001659	Aortic regurgitation	0	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	90
HP:0001659	HP:0001659	Aortic regurgitation	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent	3
HP:0001659	HP:0001659	Aortic regurgitation	0	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	452
HP:0001659	HP:0001659	Aortic regurgitation	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0001659	HP:0001659	Aortic regurgitation	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.	40
HP:0001659	HP:0001659	Aortic regurgitation	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent
HP:0001659	HP:0001659	Aortic regurgitation	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	41
HP:0001659	HP:0001659	Aortic regurgitation	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0001659	HP:0001659	Aortic regurgitation	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0001659	HP:0001659	Aortic regurgitation	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001659	HP:0001659	Aortic regurgitation	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001659	HP:0001659	Aortic regurgitation	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	HP:0040283 - Occasional
HP:0001659	HP:0001659	Aortic regurgitation	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0001659	HP:0001659	Aortic regurgitation	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.	24
HP:0001659	HP:0001659	Aortic regurgitation	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	7
HP:0001659	HP:0001659	Aortic regurgitation	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0001659	HP:0001659	Aortic regurgitation	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	260
HP:0001659	HP:0001659	Aortic regurgitation	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	504
HP:0001659	HP:0001659	Aortic regurgitation	0	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	33
HP:0001659	HP:0001659	Aortic regurgitation	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0001659	HP:0001659	Aortic regurgitation	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001659	HP:0001659	Aortic regurgitation	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001659	HP:0001659	Aortic regurgitation	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001659	HP:0001659	Aortic regurgitation	0	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2	.	11
HP:0001659	HP:0001659	Aortic regurgitation	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	162
HP:0001659	HP:0001659	Aortic regurgitation	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	85
HP:0001659	HP:0001659	Aortic regurgitation	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	239
HP:0001659	HP:0001659	Aortic regurgitation	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	253
HP:0001659	HP:0001659	Aortic regurgitation	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0001659	HP:0001659	Aortic regurgitation	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0001659	HP:0001659	Aortic regurgitation	0	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	5
HP:0001659	HP:0001659	Aortic regurgitation	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0001659	HP:0001659	Aortic regurgitation	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001659	HP:0001659	Aortic regurgitation	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001659	HP:0001659	Aortic regurgitation	0	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome	HP:0040282 - Frequent	5
HP:0001659	HP:0001659	Aortic regurgitation	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83

Genes (96) :ACTA2 ADAMTS19 ALDH18A1 ARF1 ARFGEF2 ARSK ATP6V1E1 BCR BUB1 BUB1B BUB3 C12ORF57 C4A CCNQ CCR1 CEP57 CHST14 CHST3 COA6 COL1A2 CRKL D2HGDH DOHH DYRK1A EHMT1 ELN ERAP1 ERMARD FAS FBLN5 FBN1 FLNA FOXE3 GATA4 GATA5 GJA5 GJA8 GNPTAB GNPTG HCN4 HEATR3 HEY2 HLA-B IDUA IFNGR1 IL10 IL12A IL12A-AS1 IL23R KLRC4 LMNA LMOD2 LOX MAN2B1 MAP1B MAPK1 MAT2A MEFV MFAP5 MYH11 MYLK NEDD4L NKX2-5 NKX2-6 NOTCH1 PCGF2 PDSS1 PLXND1 PRKG1 PUF60 SHOC2 SKIC2 SKIC3 SLC2A10 SLC35A1 SMAD2 SMAD3 SMAD4 SMAD6 SON SPRED2 SPTBN1 STAT4 TAB2 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TLR4 TMTC3 TRIP13 TTC26 UBAC2 YY1AP1 ZMPSTE24

Diseases (65) :ORPHA:91387 OMIM:620067 ORPHA:90348 OMIM:616603 ORPHA:98892 OMIM:619698 OMIM:617402 ORPHA:261330 ORPHA:1052 OMIM:218340 ORPHA:117 ORPHA:140952 OMIM:614114 OMIM:601776 OMIM:143095 OMIM:616501 ORPHA:230851 OMIM:225320 OMIM:600721 OMIM:620066 ORPHA:268261 ORPHA:464311 ORPHA:96147 OMIM:123700 OMIM:154700 OMIM:314400 ORPHA:555877 OMIM:607941 ORPHA:402075 OMIM:612474 OMIM:252500 OMIM:252600 ORPHA:576 OMIM:252605 OMIM:163800 OMIM:620072 ORPHA:29207 OMIM:106300 OMIM:607014 OMIM:607015 OMIM:607016 ORPHA:93474 ORPHA:740 OMIM:619897 ORPHA:309288 ORPHA:309282 OMIM:132900 ORPHA:229 ORPHA:3384 OMIM:618371 OMIM:614651 ORPHA:508498 OMIM:607721 ORPHA:84064 OMIM:222470 OMIM:208050 OMIM:603585 ORPHA:284984 OMIM:617140 OMIM:619745 OMIM:619475 OMIM:614980 OMIM:619825 OMIM:619534 ORPHA:79094

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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