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 left ventricle morphology (HP:0001711)

Grandparent Node:
Ventricular hypertrophy (HP:0001714)

Parent Node:
Left ventricular hypertrophy (HP:0001712)

..Starting node
..Congenital hypertrophy of left ventricle (HP:0005129)

Term ID:

5129

Name:

Congenital hypertrophy of left ventricle

Synonym:

Definition:

Comments:

Reference:

HP:0005129

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0005129	HP:0005129	Congenital hypertrophy of left ventricle	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254

Genes (1) :ABCC9

Diseases (1) :OMIM:239850

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