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 lung morphology (HP:0002088)

Grandparent Node:
Abnormality of the vasculature (HP:0002597)

Parent Node:
Abnormality of the pulmonary vasculature (HP:0004930)

..Starting node
..Peripheral pulmonary vessel aplasia (HP:0005316)

Term ID:

5316

Name:

Peripheral pulmonary vessel aplasia

Synonym:

Definition:

Comments:

Reference:

HP:0005316

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the pulmonary artery (HP:0004414)

Abnormality of the pulmonary veins (HP:0011718)

Agenesis of pulmonary vessels (HP:0005311)

Pulmonary arteriovenous malformation (HP:0006548)

Pulmonary capillary hemangiomatosis (HP:0005954)

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:0005316	HP:0005316	Peripheral pulmonary vessel aplasia	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12

Genes (1) :WNT3

Diseases (1) :OMIM:273395

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