Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 cardiac atrium morphology (HP:0005120)

Grandparent Node:
Abnormal spatial orientation of the cardiac segments (HP:0011534)

Parent Node:
Abnormal atrial arrangement (HP:0011535)

..Starting node
..Atrial situs ambiguous (HP:0011539)

Term ID:

11539

Name:

Atrial situs ambiguous

Synonym:

Atrial heterotaxy; Atrial situs ambiguus

Definition:

Common atrium without defining morphologic features.

Comments:

Reference:

HP:0011539

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atrial situs inversus (HP:0011538)

Left atrial isomerism (HP:0011537)

Right atrial isomerism (HP:0011536)

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:0011539	HP:0011539	Atrial situs ambiguous	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	36
HP:0011539	HP:0011539	Atrial situs ambiguous	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	126
HP:0011539	HP:0011539	Atrial situs ambiguous	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	182
HP:0011539	HP:0011539	Atrial situs ambiguous	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0011539	HP:0011539	Atrial situs ambiguous	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0011539	HP:0011539	Atrial situs ambiguous	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011539	HP:0011539	Atrial situs ambiguous	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011539	HP:0011539	Atrial situs ambiguous	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011539	HP:0011539	Atrial situs ambiguous	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	116
HP:0011539	HP:0011539	Atrial situs ambiguous	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011539	HP:0011539	Atrial situs ambiguous	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	78
HP:0011539	HP:0011539	Atrial situs ambiguous	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	63
HP:0011539	HP:0011539	Atrial situs ambiguous	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	27
HP:0011539	HP:0011539	Atrial situs ambiguous	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	62
HP:0011539	HP:0011539	Atrial situs ambiguous	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011539	HP:0011539	Atrial situs ambiguous	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0011539	HP:0011539	Atrial situs ambiguous	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	542
HP:0011539	HP:0011539	Atrial situs ambiguous	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	527
HP:0011539	HP:0011539	Atrial situs ambiguous	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	18
HP:0011539	HP:0011539	Atrial situs ambiguous	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	73
HP:0011539	HP:0011539	Atrial situs ambiguous	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	104
HP:0011539	HP:0011539	Atrial situs ambiguous	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	2
HP:0011539	HP:0011539	Atrial situs ambiguous	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	167
HP:0011539	HP:0011539	Atrial situs ambiguous	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	44
HP:0011539	HP:0011539	Atrial situs ambiguous	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011539	HP:0011539	Atrial situs ambiguous	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	1
HP:0011539	HP:0011539	Atrial situs ambiguous	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	9
HP:0011539	HP:0011539	Atrial situs ambiguous	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0011539	HP:0011539	Atrial situs ambiguous	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011539	HP:0011539	Atrial situs ambiguous	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	13
HP:0011539	HP:0011539	Atrial situs ambiguous	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011539	HP:0011539	Atrial situs ambiguous	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	50
HP:0011539	HP:0011539	Atrial situs ambiguous	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011539	HP:0011539	Atrial situs ambiguous	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011539	HP:0011539	Atrial situs ambiguous	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011539	HP:0011539	Atrial situs ambiguous	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011539	HP:0011539	Atrial situs ambiguous	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	201
HP:0011539	HP:0011539	Atrial situs ambiguous	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.	3
HP:0011539	HP:0011539	Atrial situs ambiguous	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	200
HP:0011539	HP:0011539	Atrial situs ambiguous	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	31
HP:0011539	HP:0011539	Atrial situs ambiguous	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	5
HP:0011539	HP:0011539	Atrial situs ambiguous	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	58
HP:0011539	HP:0011539	Atrial situs ambiguous	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0011539	HP:0011539	Atrial situs ambiguous	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	45
HP:0011539	HP:0011539	Atrial situs ambiguous	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	15
HP:0011539	HP:0011539	Atrial situs ambiguous	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	3
HP:0011539	HP:0011539	Atrial situs ambiguous	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011539	HP:0011539	Atrial situs ambiguous	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20

Genes (48) :CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FOXJ1 GAS2L2 GAS8 HYDIN LRRC56 MCIDAS NEK10 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PKD1L1 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 SPEF2 STK36 TTC12 ZMYND10

Diseases (2) :ORPHA:244 OMIM:617205

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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