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 atrioventricular valve morphology (HP:0006705)

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

..Starting node
..Dysplastic tricuspid valve (HP:0030732)

Term ID:

30732

Name:

Dysplastic tricuspid valve

Synonym:

Tricuspid valve dysplasia

Definition:

A congenital malformation of the tricuspid valve characterized by leaflet deformation.

Comments:

Reference:

HP:0030732

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)

Ebstein anomaly of the tricuspid valve (HP:0010316)

Hypoplastic tricuspid valve (HP:0011573)

Imperforate tricuspid valve (HP:0011575)

Tricuspid atresia (HP:0011662)

Tricuspid valve prolapse (HP:0001704)

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:0030732	HP:0030732	Dysplastic tricuspid valve	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0030732	HP:0030732	Dysplastic tricuspid valve	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0030732	HP:0030732	Dysplastic tricuspid valve	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0030732	HP:0030732	Dysplastic tricuspid valve	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2

Genes (4) :CHD7 FOXF1 MAP3K7 MYRF

Diseases (4) :OMIM:214800 OMIM:265380 OMIM:157800 OMIM:618280

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.