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:
Congenital malformation of the great arteries (HP:0011603)

Parent Node:
Conotruncal defect (HP:0001710)

..Starting node
..Tetralogy of Fallot (HP:0001636)

Term ID:

1636

Name:

Tetralogy of Fallot

Synonym:

Tetrology of fallot

Definition:

A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.

Comments:

Reference:

HP:0001636

Genes and Diseases:

Child Nodes:

........

Tetralogy of Fallot with absent pulmonary valve (HP:0011659)

........

Tetralogy of Fallot with absent subarterial conus (HP:0011676)

........

Tetralogy of Fallot with atrioventricular canal defect (HP:0011677)

........

Tetralogy of Fallot with pulmonary stenosis (HP:0011679)

........

Tetralogy of Fallot with pulmonary atresia (HP:0012516)

................... HP:0011678 Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries

Sister Nodes:

Double outlet right ventricle (HP:0001719)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040283 - Occasional		5
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.		9
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		147
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		88
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		219
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		25
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		1
HP:0001636	HP:0001636	Tetralogy of Fallot	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001636	HP:0001636	Tetralogy of Fallot	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0001636	HP:0001636	Tetralogy of Fallot	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0001636	HP:0001636	Tetralogy of Fallot	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0001636	HP:0001636	Tetralogy of Fallot	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0001636	HP:0001636	Tetralogy of Fallot	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional		572
HP:0001636	HP:0001636	Tetralogy of Fallot	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0001636	HP:0001636	Tetralogy of Fallot	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent		33
HP:0001636	HP:0001636	Tetralogy of Fallot	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001636	HP:0001636	Tetralogy of Fallot	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		200
HP:0001636	HP:0001636	Tetralogy of Fallot	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.		14
HP:0001636	HP:0001636	Tetralogy of Fallot	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0001636	HP:0001636	Tetralogy of Fallot	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0001636	HP:0001636	Tetralogy of Fallot	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional		4
HP:0001636	HP:0001636	Tetralogy of Fallot	0	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0001636	HP:0001636	Tetralogy of Fallot	0	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		5
HP:0001636	HP:0001636	Tetralogy of Fallot	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		6
HP:0001636	HP:0001636	Tetralogy of Fallot	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional		6
HP:0001636	HP:0001636	Tetralogy of Fallot	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040283 - Occasional		9
HP:0001636	HP:0001636	Tetralogy of Fallot	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0001636	HP:0001636	Tetralogy of Fallot	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	HP:0040283 - Occasional		13
HP:0001636	HP:0001636	Tetralogy of Fallot	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional		2
HP:0001636	HP:0001636	Tetralogy of Fallot	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0001636	HP:0001636	Tetralogy of Fallot	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001636	HP:0001636	Tetralogy of Fallot	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001636	HP:0001636	Tetralogy of Fallot	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001636	HP:0001636	Tetralogy of Fallot	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		22
HP:0001636	HP:0001636	Tetralogy of Fallot	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		3
HP:0001636	HP:0001636	Tetralogy of Fallot	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		9
HP:0001636	HP:0001636	Tetralogy of Fallot	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		18
HP:0001636	HP:0001636	Tetralogy of Fallot	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional		223
HP:0001636	HP:0001636	Tetralogy of Fallot	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0001636	HP:0001636	Tetralogy of Fallot	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		4
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		17
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		172
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040284 - Very rare		111
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7			90
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		90
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.		20
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional		61
HP:0001636	HP:0001636	Tetralogy of Fallot	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		48
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		2
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional		87
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease	HP:0040283 - Occasional		87
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		87
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot	.		87
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1			87
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.		10
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		10
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional		37
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot	.		37
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		37
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.		28
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		28
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		39
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		173
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		8
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001636	HP:0001636	Tetralogy of Fallot	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001636	HP:0001636	Tetralogy of Fallot	0	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency	.		32
HP:0001636	HP:0001636	Tetralogy of Fallot	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040284 - Very rare		32
HP:0001636	HP:0001636	Tetralogy of Fallot	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		3
HP:0001636	HP:0001636	Tetralogy of Fallot	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0001636	HP:0001636	Tetralogy of Fallot	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0001636	HP:0001636	Tetralogy of Fallot	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0001636	HP:0001636	Tetralogy of Fallot	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0001636	HP:0001636	Tetralogy of Fallot	0	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0001636	HP:0001636	Tetralogy of Fallot	0	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot	.		257
HP:0001636	HP:0001636	Tetralogy of Fallot	0	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		257
HP:0001636	HP:0001636	Tetralogy of Fallot	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		2
HP:0001636	HP:0001636	Tetralogy of Fallot	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0001636	HP:0001636	Tetralogy of Fallot	0	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		40
HP:0001636	HP:0001636	Tetralogy of Fallot	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0001636	HP:0001636	Tetralogy of Fallot	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001636	HP:0001636	Tetralogy of Fallot	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001636	HP:0001636	Tetralogy of Fallot	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional		69
HP:0001636	HP:0001636	Tetralogy of Fallot	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001636	HP:0001636	Tetralogy of Fallot	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.		2
HP:0001636	HP:0001636	Tetralogy of Fallot	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0001636	HP:0001636	Tetralogy of Fallot	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		117
HP:0001636	HP:0001636	Tetralogy of Fallot	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		1
HP:0001636	HP:0001636	Tetralogy of Fallot	0	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	HP:0040283 - Occasional		90
HP:0001636	HP:0001636	Tetralogy of Fallot	0	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		90
HP:0001636	HP:0001636	Tetralogy of Fallot	0	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot	.		90
HP:0001636	HP:0001636	Tetralogy of Fallot	0	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		3
HP:0001636	HP:0001636	Tetralogy of Fallot	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional		3
HP:0001636	HP:0001636	Tetralogy of Fallot	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		45
HP:0001636	HP:0001636	Tetralogy of Fallot	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		452
HP:0001636	HP:0001636	Tetralogy of Fallot	0	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001636	HP:0001636	Tetralogy of Fallot	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.		138
HP:0001636	HP:0001636	Tetralogy of Fallot	0	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4	.		13
HP:0001636	HP:0001636	Tetralogy of Fallot	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0001636	HP:0001636	Tetralogy of Fallot	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040283 - Occasional		641
HP:0001636	HP:0001636	Tetralogy of Fallot	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0001636	HP:0001636	Tetralogy of Fallot	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040282 - Frequent		36
HP:0001636	HP:0001636	Tetralogy of Fallot	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0001636	HP:0001636	Tetralogy of Fallot	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent		37
HP:0001636	HP:0001636	Tetralogy of Fallot	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.		28
HP:0001636	HP:0001636	Tetralogy of Fallot	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0001636	HP:0001636	Tetralogy of Fallot	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		665
HP:0001636	HP:0001636	Tetralogy of Fallot	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0001636	HP:0001636	Tetralogy of Fallot	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001636	HP:0001636	Tetralogy of Fallot	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0001636	HP:0001636	Tetralogy of Fallot	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0001636	HP:0001636	Tetralogy of Fallot	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0001636	HP:0001636	Tetralogy of Fallot	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040284 - Very rare		16
HP:0001636	HP:0001636	Tetralogy of Fallot	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	HP:0040283 - Occasional		16
HP:0001636	HP:0001636	Tetralogy of Fallot	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001636	HP:0001636	Tetralogy of Fallot	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional		10
HP:0001636	HP:0001636	Tetralogy of Fallot	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		3
HP:0001636	HP:0001636	Tetralogy of Fallot	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0001636	HP:0001636	Tetralogy of Fallot	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0001636	HP:0001636	Tetralogy of Fallot	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001636	HP:0001636	Tetralogy of Fallot	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6	.		40
HP:0001636	HP:0001636	Tetralogy of Fallot	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0001636	HP:0001636	Tetralogy of Fallot	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.		124
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional		86
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		67
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	HP:0040283 - Occasional	HP:0030674 - Antenatal onset
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare		27
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		617
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		87
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		1
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		47
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		14
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional		6
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040284 - Very rare		138
HP:0001636	HP:0001636	Tetralogy of Fallot	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0001636	HP:0001636	Tetralogy of Fallot	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		124
HP:0001636	HP:0001636	Tetralogy of Fallot	0	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2	.		11
HP:0001636	HP:0001636	Tetralogy of Fallot	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		32
HP:0001636	HP:0001636	Tetralogy of Fallot	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional		32
HP:0001636	HP:0001636	Tetralogy of Fallot	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0001636	HP:0001636	Tetralogy of Fallot	0	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		32
HP:0001636	HP:0001636	Tetralogy of Fallot	0	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot	.		32
HP:0001636	HP:0001636	Tetralogy of Fallot	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0001636	HP:0001636	Tetralogy of Fallot	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		1
HP:0001636	HP:0001636	Tetralogy of Fallot	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0001636	HP:0001636	Tetralogy of Fallot	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001636	HP:0001636	Tetralogy of Fallot	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0001636	HP:0001636	Tetralogy of Fallot	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		14
HP:0001636	HP:0001636	Tetralogy of Fallot	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0001636	HP:0001636	Tetralogy of Fallot	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0001636	HP:0001636	Tetralogy of Fallot	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001636	HP:0001636	Tetralogy of Fallot	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040284 - Very rare		6
HP:0001636	HP:0001636	Tetralogy of Fallot	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001636	HP:0001636	Tetralogy of Fallot	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent		83
HP:0001636	HP:0001636	Tetralogy of Fallot	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0001636	HP:0001636	Tetralogy of Fallot	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional		177
HP:0001636	HP:0001636	Tetralogy of Fallot	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001636	HP:0001636	Tetralogy of Fallot	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional		362
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot	.		31
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		31
HP:0001636	HP:0001636	Tetralogy of Fallot	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		34
HP:0001636	HP:0011677	Tetralogy of Fallot with atrioventricular canal defect	1	CL E G H
HP:0001636	HP:0011676	Tetralogy of Fallot with absent subarterial conus	1	CL E G H
HP:0001636	HP:0011659	Tetralogy of Fallot with absent pulmonary valve	1	CL E G H
HP:0001636	HP:0012516	Tetralogy of Fallot with pulmonary atresia	1	CL E G H
HP:0001636	HP:0011679	Tetralogy of Fallot with pulmonary stenosis	1	CL E G H
HP:0001636	HP:0011678	Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries	2	CL E G H

Genes (180) :ALX1 ALX3 ARHGAP31 ARID1A ARID1B ARID2 ARVCF BAZ1B BCL7B BICRA BRAF BRCA1 BRCA2 BRIP1 BUD23 CACNA1C CASZ1 CCDC22 CDK8 CDON CHD4 CHD7 CHRM3 CHUK CITED2 CLIP2 COMT COX7B CXCR4 DACT1 DDX11 DDX59 DGCR2 DGCR6 DGCR8 DISP1 DLL1 DLL4 DNAJC30 DOCK6 DPF2 EHMT1 EIF4H ELN EOGT ERCC4 ESS2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF8 FGFR1 FIG4 FKBP6 FLT4 FOXC2 FOXF1 FOXH1 GABRD GAS1 GATA1 GATA4 GATA5 GATA6 GDF1 GJA5 GLI2 GP1BB GTF2I GTF2IRD1 GTF2IRD2 HIBCH HIRA HSPG2 INTU JAG1 JMJD1C KCNAB2 KDR LIMK1 LUZP1 MAD2L2 MAPKAPK5 METTL27 MKKS MLXIPL MMP23B MYRF NCF1 NIPA1 NIPA2 NKX2-5 NKX2-6 NODAL NOTCH1 NOTCH2 NR2F2 NXN PAH PALB2 PDPN PIGL PIGN PLXND1 PQBP1 PRDM16 PRKCZ PTCH1 PUF60 RAB23 RAD21 RAD51 RAD51C RBM10 RBM8A RBPJ RERE RFC2 RFWD3 RNU4ATAC ROR2 RPL11 RPL5 RRAS2 RREB1 SALL1 SALL4 SEC24C SEMA3E SF3B2 SF3B4 SHH SIX3 SKI SKIC2 SKIC3 SLC35A2 SLC37A4 SLX4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 SPECC1L SPEN SRCAP STRA6 STX1A SUFU TAB2 TBL2 TBX1 TDGF1 TGIF1 TMEM260 TMEM270 TMEM94 TUBG1 UBE2A UBE2T UBE4B UFD1 VAC14 VPS37D WASHC5 WT1 XRCC2 ZEB2 ZFPM2 ZIC2

Diseases (101) :ORPHA:306542 OMIM:136760 ORPHA:974 OMIM:100300 ORPHA:1465 OMIM:135900 ORPHA:567 ORPHA:904 OMIM:619325 OMIM:613707 ORPHA:84 OMIM:601005 ORPHA:1606 ORPHA:7 OMIM:618748 ORPHA:280200 OMIM:617159 ORPHA:138 OMIM:214800 ORPHA:2970 OMIM:613630 ORPHA:3303 OMIM:300887 ORPHA:51636 ORPHA:857 OMIM:613398 ORPHA:2919 OMIM:174300 OMIM:192430 ORPHA:96147 ORPHA:3472 OMIM:216340 OMIM:618780 OMIM:153400 OMIM:265380 ORPHA:210122 OMIM:190685 ORPHA:251071 OMIM:615542 OMIM:187500 OMIM:614429 OMIM:617912 OMIM:600001 ORPHA:2255 OMIM:613854 OMIM:208530 OMIM:250620 ORPHA:88639 OMIM:617926 OMIM:617925 OMIM:118450 OMIM:617992 OMIM:619869 ORPHA:2473 OMIM:618280 ORPHA:261183 OMIM:108900 ORPHA:3384 OMIM:109730 OMIM:610205 OMIM:615779 ORPHA:1507 ORPHA:2209 ORPHA:3474 OMIM:280000 ORPHA:2059 OMIM:309500 ORPHA:508498 OMIM:201000 OMIM:614701 ORPHA:2886 OMIM:311900 OMIM:274000 ORPHA:3320 OMIM:210710 OMIM:612562 OMIM:612561 OMIM:618624 OMIM:107480 ORPHA:959 OMIM:147750 OMIM:164210 OMIM:154400 ORPHA:84064 OMIM:222470 ORPHA:356961 OMIM:619525 ORPHA:1519 ORPHA:2044 OMIM:601186 OMIM:614980 ORPHA:1727 OMIM:188400 OMIM:617478 OMIM:618316 ORPHA:163956 OMIM:220210 ORPHA:3097 OMIM:608978 ORPHA:261552 ORPHA:261537

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