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:
Congenital malformation of the great arteries (HP:0011603)

Parent Node:
Patent ductus arteriosus (HP:0001643)

..Starting node
..Patent ductus arteriosus after birth at term (HP:0011648)

Term ID:

11648

Name:

Patent ductus arteriosus after birth at term

Synonym:

Definition:

Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.

Comments:

Reference:

HP:0011648

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral ductus arteriosus (HP:0011650)

Patent ductus arteriosus after premature birth (HP:0011649)

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:0011648	HP:0011648	Patent ductus arteriosus after birth at term	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0011648	HP:0011648	Patent ductus arteriosus after birth at term	0	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16		16
HP:0011648	HP:0011648	Patent ductus arteriosus after birth at term	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional	4
HP:0011648	HP:0011648	Patent ductus arteriosus after birth at term	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12

Genes (4) :BPTF CALM3 PSMD12 SON

Diseases (3) :ORPHA:529962 OMIM:618782 ORPHA:500150

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