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 atrioventricular valve morphology (HP:0006705)

Parent Node:
Abnormal tricuspid valve morphology (HP:0001702)

..Starting node
..Tricuspid valve prolapse (HP:0001704)

Term ID:

1704

Name:

Tricuspid valve prolapse

Synonym:

Definition:

One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.

Comments:

Reference:

HP:0001704

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal tricuspid chordae tendinae morphology (HP:0031442)

Abnormal tricuspid valve annulus morphology (HP:0031441)

Abnormal tricuspid valve leaflet morphology (HP:0031443)

Dysplastic tricuspid valve (HP:0030732)

Ebstein anomaly of the tricuspid valve (HP:0010316)

Hypoplastic tricuspid valve (HP:0011573)

Imperforate tricuspid valve (HP:0011575)

Tricuspid atresia (HP:0011662)

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:0001704	HP:0001704	Tricuspid valve prolapse	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0001704	HP:0001704	Tricuspid valve prolapse	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare	373
HP:0001704	HP:0001704	Tricuspid valve prolapse	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare	660
HP:0001704	HP:0001704	Tricuspid valve prolapse	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare	325
HP:0001704	HP:0001704	Tricuspid valve prolapse	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0001704	HP:0001704	Tricuspid valve prolapse	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0001704	HP:0001704	Tricuspid valve prolapse	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0001704	HP:0001704	Tricuspid valve prolapse	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0001704	HP:0001704	Tricuspid valve prolapse	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0001704	HP:0001704	Tricuspid valve prolapse	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0001704	HP:0001704	Tricuspid valve prolapse	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	196
HP:0001704	HP:0001704	Tricuspid valve prolapse	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0001704	HP:0001704	Tricuspid valve prolapse	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0001704	HP:0001704	Tricuspid valve prolapse	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0001704	HP:0001704	Tricuspid valve prolapse	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.	4

Genes (13) :CHST14 COL1A1 COL5A1 COL5A2 COX7B FBN1 FGFR1 FLNA HCCS KRAS NDUFB11 PCGF2 PLD1

Diseases (10) :OMIM:601776 ORPHA:287 ORPHA:2556 OMIM:154700 ORPHA:284979 ORPHA:2396 OMIM:309350 OMIM:609942 OMIM:618371 OMIM:212093

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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