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 atrial septum morphology (HP:0011994)

Grandparent Node:
Abnormal cardiac atrium morphology (HP:0005120)

Parent Node:
Atrial septal defect (HP:0001631)

..Starting node
..Swiss cheese atrial septal defect (HP:0031017)

Term ID:

31017

Name:

Swiss cheese atrial septal defect

Synonym:

Definition:

Multiple defects in the atrial septum.

Comments:

Reference:

HP:0031017

Genes and Diseases:

Child Nodes:

Sister Nodes:

Patent foramen ovale (HP:0001655)

Primum atrial septal defect (HP:0010445)

Secundum atrial septal defect (HP:0001684)

Sinus venosus atrial septal defect (HP:0011567)

Unroofed coronary sinus (HP:0031297)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031017	HP:0031017	Swiss cheese atrial septal defect	0	CL E G H

Genes (0) :

Diseases (0) :

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