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:
Congenital malformation of the right heart (HP:0011723)

Parent Node:
Hypoplastic heart (HP:0001961)

..Starting node
..Hypoplastic right heart (HP:0010954)

Term ID:

10954

Name:

Hypoplastic right heart

Synonym:

Hypoplastic right heart syndrome; Underdeveloped right heart

Definition:

Underdevelopment of the right-sided structures of the heart.

Comments:

Reference:

HP:0010954

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic left heart (HP:0004383)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010954	HP:0010954	Hypoplastic right heart	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	3
HP:0010954	HP:0010954	Hypoplastic right heart	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	1
HP:0010954	HP:0010954	Hypoplastic right heart	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3	5

Genes (3) :ATP6V1A CTU2 DVL3

Diseases (3) :OMIM:617403 OMIM:618142 OMIM:616894

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