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 respiratory system morphology (HP:0012252)

Parent Node:
Abnormal pulmonary situs morphology (HP:0011615)

..Starting node
..Pulmonary situs ambiguus (HP:0011617)

Term ID:

11617

Name:

Pulmonary situs ambiguus

Synonym:

Definition:

An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same.

Comments:

Reference:

HP:0011617

Genes and Diseases:

Child Nodes:

........

Pulmonary situs ambiguus with bilateral morphologic right lungs (HP:0011618)

........

Pulmonary situs ambiguus with bilateral morphologic left lungs (HP:0011619)

Sister Nodes:

Pulmonary situs inversus (HP:0011616)

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:0011617	HP:0011617	Pulmonary situs ambiguus	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	36
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	126
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	182
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	23
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	23
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	116
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	78
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	63
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	27
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	62
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	21
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	542
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	527
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	18
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	73
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	104
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	2
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	167
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	44
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	1
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	9
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	21
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	13
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	50
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	201
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	200
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	31
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	5
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	58
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	20
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	45
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	15
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	3
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011617	HP:0011617	Pulmonary situs ambiguus	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	20
HP:0011617	HP:0011619	Pulmonary situs ambiguus with bilateral morphologic left lungs	1	CL E G H
HP:0011617	HP:0011618	Pulmonary situs ambiguus with bilateral morphologic right lungs	1	CL E G H

Genes (47) :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 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 SPEF2 STK36 TTC12 ZMYND10

Diseases (1) :ORPHA:244

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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