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 morphology of the great vessels (HP:0030962)

Grandparent Node:
Abnormality of the pulmonary artery (HP:0004414)

Parent Node:
Abnormal pulmonary artery morphology (HP:0030966)

..Starting node
..Pulmonary artery atresia (HP:0004935)

Term ID:

4935

Name:

Pulmonary artery atresia

Synonym:

Pulmonary atresia

Definition:

A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.

Comments:

Reference:

HP:0004935

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent pulmonary artery (HP:0004960)

Anomalous origin of one pulmonary artery from ascending aorta (HP:0011660)

Pulmonary arterial atherosclerosis (HP:0031272)

Pulmonary arterial medial hypertrophy (HP:0004964)

Pulmonary artery dilatation (HP:0004927)

Pulmonary artery hypoplasia (HP:0004971)

Pulmonary artery sling (HP:0004961)

Pulmonary artery stenosis (HP:0004415)

Pulmonary aterial intimal fibrosis (HP:0005312)

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:0004935	HP:0004935	Pulmonary artery atresia	0	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0004935	HP:0004935	Pulmonary artery atresia	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	147
HP:0004935	HP:0004935	Pulmonary artery atresia	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0004935	HP:0004935	Pulmonary artery atresia	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0004935	HP:0004935	Pulmonary artery atresia	0	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2	.	19
HP:0004935	HP:0004935	Pulmonary artery atresia	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0004935	HP:0004935	Pulmonary artery atresia	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0004935	HP:0004935	Pulmonary artery atresia	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0004935	HP:0004935	Pulmonary artery atresia	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	9
HP:0004935	HP:0004935	Pulmonary artery atresia	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	18
HP:0004935	HP:0004935	Pulmonary artery atresia	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0004935	HP:0004935	Pulmonary artery atresia	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	4
HP:0004935	HP:0004935	Pulmonary artery atresia	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0004935	HP:0004935	Pulmonary artery atresia	0	FADD CL E G H	8772	3573	ORPHA:306550	FADD-related immunodeficiency	HP:0040283 - Occasional	3
HP:0004935	HP:0004935	Pulmonary artery atresia	0	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS		3
HP:0004935	HP:0004935	Pulmonary artery atresia	0	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7		90
HP:0004935	HP:0004935	Pulmonary artery atresia	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.	28
HP:0004935	HP:0004935	Pulmonary artery atresia	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0004935	HP:0004935	Pulmonary artery atresia	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal	.	3
HP:0004935	HP:0004935	Pulmonary artery atresia	0	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	HP:0040283 - Occasional	90
HP:0004935	HP:0004935	Pulmonary artery atresia	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional	3
HP:0004935	HP:0004935	Pulmonary artery atresia	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0004935	HP:0004935	Pulmonary artery atresia	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	452
HP:0004935	HP:0004935	Pulmonary artery atresia	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0004935	HP:0004935	Pulmonary artery atresia	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.	3
HP:0004935	HP:0004935	Pulmonary artery atresia	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0004935	HP:0004935	Pulmonary artery atresia	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0004935	HP:0004935	Pulmonary artery atresia	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	3
HP:0004935	HP:0004935	Pulmonary artery atresia	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0004935	HP:0004935	Pulmonary artery atresia	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0004935	HP:0004935	Pulmonary artery atresia	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1

Genes (29) :ACVR2B ARHGAP31 CHD7 CIROP CRELD1 DGCR2 DGCR6 DGCR8 DLL4 DOCK6 DVL3 EOGT ESS2 FADD FLT4 GDF1 MMP21 NKX2-5 NKX2-6 NODAL NOTCH1 OTUD5 PKD1L1 PLD1 PLXND1 RBPJ STRA6 TBX1 TMEM94

Diseases (21) :OMIM:613751 ORPHA:974 OMIM:214800 OMIM:619702 OMIM:606217 OMIM:192430 OMIM:616894 ORPHA:306550 OMIM:613759 OMIM:618780 OMIM:613854 OMIM:208530 OMIM:616749 OMIM:108900 ORPHA:3384 OMIM:270100 OMIM:301056 OMIM:617205 OMIM:212093 OMIM:601186 OMIM:618316

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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