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
..Pulmonary venous occlusion (HP:0006518)

Term ID:

6518

Name:

Pulmonary venous occlusion

Synonym:

Pulmonary venoocclusive disease; Pulmonary venous stenosis

Definition:

Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition.

Comments:

Reference:

HP:0006518

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anomalous pulmonary venous return (HP:0010772)

Hypoplastic pulmonary veins (HP:0005304)

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:0006518	HP:0006518	Pulmonary venous occlusion	0	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1	525
HP:0006518	HP:0006518	Pulmonary venous occlusion	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2	40

Genes (2) :BMPR2 EIF2AK4

Diseases (2) :OMIM:265450 OMIM:234810

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