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
..Secundum atrial septal defect (HP:0001684)

Term ID:

1684

Name:

Secundum atrial septal defect

Synonym:

Atrial septal defect, ostium secundum type; Ostium secundum atrial septal defect; Patent ostium secundum

Definition:

A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.

Comments:

Reference:

HP:0001684

Genes and Diseases:

Child Nodes:

Sister Nodes:

Patent foramen ovale (HP:0001655)

Primum atrial septal defect (HP:0010445)

Sinus venosus atrial septal defect (HP:0011567)

Swiss cheese atrial septal defect (HP:0031017)

Unroofed coronary sinus (HP:0031297)

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:0001684	HP:0001684	Secundum atrial septal defect	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0001684	HP:0001684	Secundum atrial septal defect	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0001684	HP:0001684	Secundum atrial septal defect	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0001684	HP:0001684	Secundum atrial septal defect	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001684	HP:0001684	Secundum atrial septal defect	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0001684	HP:0001684	Secundum atrial septal defect	0	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9	.	37
HP:0001684	HP:0001684	Secundum atrial septal defect	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.	28
HP:0001684	HP:0001684	Secundum atrial septal defect	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001684	HP:0001684	Secundum atrial septal defect	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0001684	HP:0001684	Secundum atrial septal defect	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001684	HP:0001684	Secundum atrial septal defect	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001684	HP:0001684	Secundum atrial septal defect	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001684	HP:0001684	Secundum atrial septal defect	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0001684	HP:0001684	Secundum atrial septal defect	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0001684	HP:0001684	Secundum atrial septal defect	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001684	HP:0001684	Secundum atrial septal defect	0	MYH6 CL E G H	4624	7576	OMIM:614089	ATRIAL SEPTAL DEFECT 3; ASD3		452
HP:0001684	HP:0001684	Secundum atrial septal defect	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001684	HP:0001684	Secundum atrial septal defect	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome	.	1952
HP:0001684	HP:0001684	Secundum atrial septal defect	0	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	.	90
HP:0001684	HP:0001684	Secundum atrial septal defect	0	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0001684	HP:0001684	Secundum atrial septal defect	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0001684	HP:0001684	Secundum atrial septal defect	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0001684	HP:0001684	Secundum atrial septal defect	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0001684	HP:0001684	Secundum atrial septal defect	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0001684	HP:0001684	Secundum atrial septal defect	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	HP:0040283 - Occasional	22
HP:0001684	HP:0001684	Secundum atrial septal defect	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0001684	HP:0001684	Secundum atrial septal defect	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0001684	HP:0001684	Secundum atrial septal defect	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001684	HP:0001684	Secundum atrial septal defect	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0001684	HP:0001684	Secundum atrial septal defect	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0001684	HP:0001684	Secundum atrial septal defect	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001684	HP:0001684	Secundum atrial septal defect	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2

Genes (32) :ADK ATP2B1 CHD7 DOHH G6PC3 GATA6 GDF1 H4C3 H4C9 HEATR3 IDH1 KAT6A KDM5B MEIS2 METTL5 MYH6 NAA10 NF1 NKX2-5 NR2F2 PGAP1 POLR3A PRDM13 PRRX1 PTF1A RPL11 SH3PXD2B SHMT2 TBX5 TRIP4 TTC26 USP18

Diseases (32) :OMIM:614300 OMIM:619910 OMIM:214800 OMIM:620066 OMIM:612541 OMIM:614475 OMIM:613854 OMIM:619758 OMIM:619951 OMIM:620072 ORPHA:99646 OMIM:616268 OMIM:618109 OMIM:600987 OMIM:618665 OMIM:614089 OMIM:300855 OMIM:601321 OMIM:108900 OMIM:618901 OMIM:615802 OMIM:264090 OMIM:619909 OMIM:202650 OMIM:609069 OMIM:612562 OMIM:249420 OMIM:619121 OMIM:142900 OMIM:616866 OMIM:619534 OMIM:617397

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

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