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 morphology of the great vessels (HP:0030962)

Grandparent Node:
Abnormality of the pulmonary veins (HP:0011718)

Parent Node:
Abnormal pulmonary vein morphology (HP:0030968)

..Starting node
..Hypoplastic pulmonary veins (HP:0005304)

Term ID:

5304

Name:

Hypoplastic pulmonary veins

Synonym:

Underdeveloped lung veins

Definition:

Comments:

Reference:

HP:0005304

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anomalous pulmonary venous return (HP:0010772)

Pulmonary venous occlusion (HP:0006518)

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:0005304	HP:0005304	Hypoplastic pulmonary veins	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0005304	HP:0005304	Hypoplastic pulmonary veins	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.	28
HP:0005304	HP:0005304	Hypoplastic pulmonary veins	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.

Genes (3) :CRTAP GDF1 RSPO2

Diseases (3) :OMIM:610682 OMIM:613854 OMIM:618021

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