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 cardiac atrium morphology (HP:0005120)

Parent Node:
Abnormal left atrium morphology (HP:0025579)

..Starting node
..Hypoplastic left atrium (HP:0005156)

Term ID:

5156

Name:

Hypoplastic left atrium

Synonym:

Left atrium hypoplasia; Underdeveloped left heart atrium

Definition:

Underdeveloped, small left heart atrium

Comments:

Reference:

HP:0005156

Genes and Diseases:

Child Nodes:

Sister Nodes:

Left atrial enlargement (HP:0031295)

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:0005156	HP:0005156	Hypoplastic left atrium	0	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12	HP:0040283 - Occasional	9
HP:0005156	HP:0005156	Hypoplastic left atrium	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71

Genes (2) :RARB STRA6

Diseases (2) :OMIM:615524 OMIM:601186

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