Human Phenotype Ontology

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:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus		58
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced		16
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0010948	HP:0010948	Abnormal fetal cardiovascular morphology	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0010948	HP:0034196	Ductus venosus agenesis	1	CL E G H
HP:0010948	HP:0025730	Foramen ovale aneurysm	1	CL E G H
HP:0010948	HP:0001195	Single umbilical artery	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0010948	HP:0001195	Single umbilical artery	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0010948	HP:0001195	Single umbilical artery	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0010948	HP:0001195	Single umbilical artery	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0010948	HP:0001195	Single umbilical artery	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional	58
HP:0010948	HP:0001195	Single umbilical artery	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0010948	HP:0001195	Single umbilical artery	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010948	HP:0001195	Single umbilical artery	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0010948	HP:0001195	Single umbilical artery	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0010948	HP:0001195	Single umbilical artery	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare	37
HP:0010948	HP:0001195	Single umbilical artery	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010948	HP:0001195	Single umbilical artery	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0010948	HP:0001195	Single umbilical artery	1	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.	345
HP:0010948	HP:0001195	Single umbilical artery	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0010948	HP:0001195	Single umbilical artery	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional	3
HP:0010948	HP:0025671	Fetal pericardial effusion	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0010948	HP:0001195	Single umbilical artery	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0010948	HP:0001195	Single umbilical artery	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0010948	HP:0001195	Single umbilical artery	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0010948	HP:0001195	Single umbilical artery	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0010948	HP:0001195	Single umbilical artery	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0010948	HP:0001195	Single umbilical artery	1	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0010948	HP:0001195	Single umbilical artery	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0010948	HP:0001195	Single umbilical artery	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0010948	HP:0001195	Single umbilical artery	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0010948	HP:0001195	Single umbilical artery	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0010948	HP:0001195	Single umbilical artery	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0010948	HP:0001195	Single umbilical artery	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0010948	HP:0001195	Single umbilical artery	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0010948	HP:0001195	Single umbilical artery	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0010948	HP:0001195	Single umbilical artery	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0010948	HP:0010942	Echogenic intracardiac focus	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0010948	HP:0025671	Fetal pericardial effusion	1	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced		16
HP:0010948	HP:0001195	Single umbilical artery	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0010948	HP:0001195	Single umbilical artery	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0010948	HP:0001195	Single umbilical artery	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0010948	HP:0001195	Single umbilical artery	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0010948	HP:0001195	Single umbilical artery	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0010948	HP:0001195	Single umbilical artery	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0010948	HP:0001195	Single umbilical artery	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0010948	HP:0001195	Single umbilical artery	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0010948	HP:0001195	Single umbilical artery	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0010948	HP:0001195	Single umbilical artery	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0010948	HP:0001195	Single umbilical artery	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0010948	HP:0001195	Single umbilical artery	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS