Human Phenotype Ontology

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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 morphology (HP:0001627)

Parent Node:
Abnormal heart valve morphology (HP:0001654)

..Starting node
..Abnormal pulmonary valve morphology (HP:0001641)

Term ID:

1641

Name:

Abnormal pulmonary valve morphology

Synonym:

Abnormality of the pulmonary valve; Anomaly of the pulmonary valve

Definition:

Any structural abnormality of the pulmonary valve.

Comments:

Reference:

HP:0001641

Genes and Diseases:

Child Nodes:

........

Absence of the pulmonary valve (HP:0005134)

................... HP:0011659 Tetralogy of Fallot with absent pulmonary valve

........

Pulmonary valve defects (HP:0005148)

........

Dysplastic pulmonary valve (HP:0005164)

........

Pulmonic valve myxoma (HP:0006691)

........

Pulmonary valve atresia (HP:0010882)

........

Abnormal pulmonary valve cusp morphology (HP:0031566)

................... HP:0005182 Bicuspid pulmonary valve

Sister Nodes:

Abnormal aortic valve morphology (HP:0001646)

Abnormal atrioventricular valve morphology (HP:0006705)

Cardiac valve calcification (HP:0005146)

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:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	147
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	1
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach		169
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	276
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	317
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	102
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	6
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	9
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	18
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	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:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	4
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7		90
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	8
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	3
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	2
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	196
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	43
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	452
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	102
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome		36
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma		134
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac		134
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	291
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	291
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	212
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	212
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	3
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	3
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	39
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	1
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	2
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	315
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	30
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	32
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	82
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent	63
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	44
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0001641	HP:0001641	Abnormal pulmonary valve morphology	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001641	HP:0031566	Abnormal pulmonary valve cusp morphology	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare	169
HP:0001641	HP:0031566	Abnormal pulmonary valve cusp morphology	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0001641	HP:0031566	Abnormal pulmonary valve cusp morphology	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare
HP:0001641	HP:0005164	Dysplastic pulmonary valve	1	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0001641	HP:0005134	Absence of the pulmonary valve	1	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7		90
HP:0001641	HP:0010882	Pulmonary valve atresia	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0001641	HP:0010882	Pulmonary valve atresia	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0001641	HP:0005164	Dysplastic pulmonary valve	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0001641	HP:0005148	Pulmonary valve defects	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0001641	HP:0010882	Pulmonary valve atresia	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040282 - Frequent	36
HP:0001641	HP:0010882	Pulmonary valve atresia	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.	2
HP:0001641	HP:0005164	Dysplastic pulmonary valve	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040284 - Very rare	138
HP:0001641	HP:0006691	Pulmonic valve myxoma	1	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040281 - Very frequent	134
HP:0001641	HP:0006691	Pulmonic valve myxoma	1	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac	.	134
HP:0001641	HP:0031566	Abnormal pulmonary valve cusp morphology	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0001641	HP:0005164	Dysplastic pulmonary valve	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001641	HP:0011659	Tetralogy of Fallot with absent pulmonary valve	2	CL E G H
HP:0001641	HP:0005182	Bicuspid pulmonary valve	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040284 - Very rare	36
HP:0001641	HP:0005182	Bicuspid pulmonary valve	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253

Genes (57) :ARHGAP31 ARVCF ATRX B3GLCT BRAF CBL CLCN7 COMT DACT1 DAXX DDX3X DLL4 DOCK6 DYRK1A EOGT FLT4 FOXF1 GP1BB HIRA IDS JMJD1C KAT5 KIF7 KRAS LZTR1 MRAS NOTCH1 NRAS NXN PIGL POLA1 POLR3A PRKAR1A PTPN11 RAF1 RASA2 RBPJ RIT1 RNF135 ROR2 RRAS RRAS2 RREB1 SALL1 SEC24C SNX10 SOS1 SOS2 SPRED2 TBX1 TCIRG1 TGFBR2 TMEM70 TNFSF11 UFD1 ZEB2 ZNF699

Diseases (29) :ORPHA:974 ORPHA:567 ORPHA:100075 ORPHA:709 ORPHA:500 ORPHA:648 ORPHA:667 ORPHA:857 OMIM:300958 ORPHA:268261 OMIM:618780 OMIM:265380 ORPHA:210122 ORPHA:217093 ORPHA:217085 OMIM:619103 OMIM:200990 ORPHA:1507 ORPHA:3474 OMIM:301030 ORPHA:3455 ORPHA:615 OMIM:255960 ORPHA:137634 OMIM:610168 ORPHA:1194 ORPHA:261552 ORPHA:261537 OMIM:619488

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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