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:
Abnormality of the nose (HP:0000366)

Parent Node:
Abnormal nasal mucosa morphology (HP:0000433)

..Starting node
..Nasal polyposis (HP:0100582)

Term ID:

100582

Name:

Nasal polyposis

Synonym:

Nasal polyps; Polyposis nasi; Polyps of nose

Definition:

Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.

Comments:

Reference:

HP:0100582

Genes and Diseases:

Child Nodes:

Sister Nodes:

Nasal mucosa telangiectasia (HP:0000434)

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:0100582	HP:0100582	Nasal polyposis	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	36
HP:0100582	HP:0100582	Nasal polyposis	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	126
HP:0100582	HP:0100582	Nasal polyposis	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0100582	HP:0100582	Nasal polyposis	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	182
HP:0100582	HP:0100582	Nasal polyposis	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	23
HP:0100582	HP:0100582	Nasal polyposis	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	23
HP:0100582	HP:0100582	Nasal polyposis	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0100582	HP:0100582	Nasal polyposis	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0100582	HP:0100582	Nasal polyposis	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0100582	HP:0100582	Nasal polyposis	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0100582	HP:0100582	Nasal polyposis	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0100582	HP:0100582	Nasal polyposis	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0100582	HP:0100582	Nasal polyposis	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0100582	HP:0100582	Nasal polyposis	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0100582	HP:0100582	Nasal polyposis	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0100582	HP:0100582	Nasal polyposis	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	116
HP:0100582	HP:0100582	Nasal polyposis	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0100582	HP:0100582	Nasal polyposis	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0100582	HP:0100582	Nasal polyposis	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	78
HP:0100582	HP:0100582	Nasal polyposis	0	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.	63
HP:0100582	HP:0100582	Nasal polyposis	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	63
HP:0100582	HP:0100582	Nasal polyposis	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	27
HP:0100582	HP:0100582	Nasal polyposis	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	62
HP:0100582	HP:0100582	Nasal polyposis	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0100582	HP:0100582	Nasal polyposis	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	21
HP:0100582	HP:0100582	Nasal polyposis	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	542
HP:0100582	HP:0100582	Nasal polyposis	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	527
HP:0100582	HP:0100582	Nasal polyposis	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	18
HP:0100582	HP:0100582	Nasal polyposis	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.	73
HP:0100582	HP:0100582	Nasal polyposis	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	73
HP:0100582	HP:0100582	Nasal polyposis	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	104
HP:0100582	HP:0100582	Nasal polyposis	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	2
HP:0100582	HP:0100582	Nasal polyposis	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	167
HP:0100582	HP:0100582	Nasal polyposis	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	44
HP:0100582	HP:0100582	Nasal polyposis	0	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040283 - Occasional	14
HP:0100582	HP:0100582	Nasal polyposis	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0100582	HP:0100582	Nasal polyposis	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0100582	HP:0100582	Nasal polyposis	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0100582	HP:0100582	Nasal polyposis	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	1
HP:0100582	HP:0100582	Nasal polyposis	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	9
HP:0100582	HP:0100582	Nasal polyposis	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0100582	HP:0100582	Nasal polyposis	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0100582	HP:0100582	Nasal polyposis	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0100582	HP:0100582	Nasal polyposis	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0100582	HP:0100582	Nasal polyposis	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5	.	21
HP:0100582	HP:0100582	Nasal polyposis	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	21
HP:0100582	HP:0100582	Nasal polyposis	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0100582	HP:0100582	Nasal polyposis	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0100582	HP:0100582	Nasal polyposis	0	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42		13
HP:0100582	HP:0100582	Nasal polyposis	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	13
HP:0100582	HP:0100582	Nasal polyposis	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0100582	HP:0100582	Nasal polyposis	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0100582	HP:0100582	Nasal polyposis	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	50
HP:0100582	HP:0100582	Nasal polyposis	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0100582	HP:0100582	Nasal polyposis	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0100582	HP:0100582	Nasal polyposis	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0100582	HP:0100582	Nasal polyposis	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0100582	HP:0100582	Nasal polyposis	0	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35	.
HP:0100582	HP:0100582	Nasal polyposis	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0100582	HP:0100582	Nasal polyposis	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	201
HP:0100582	HP:0100582	Nasal polyposis	0	PTGER2 CL E G H	5732	9594	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance	.	1
HP:0100582	HP:0100582	Nasal polyposis	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	200
HP:0100582	HP:0100582	Nasal polyposis	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	31
HP:0100582	HP:0100582	Nasal polyposis	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	5
HP:0100582	HP:0100582	Nasal polyposis	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	58
HP:0100582	HP:0100582	Nasal polyposis	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	20
HP:0100582	HP:0100582	Nasal polyposis	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0100582	HP:0100582	Nasal polyposis	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0100582	HP:0100582	Nasal polyposis	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0100582	HP:0100582	Nasal polyposis	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0100582	HP:0100582	Nasal polyposis	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0100582	HP:0100582	Nasal polyposis	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	45
HP:0100582	HP:0100582	Nasal polyposis	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	15
HP:0100582	HP:0100582	Nasal polyposis	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.	740
HP:0100582	HP:0100582	Nasal polyposis	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0100582	HP:0100582	Nasal polyposis	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	3
HP:0100582	HP:0100582	Nasal polyposis	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0100582	HP:0100582	Nasal polyposis	0	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I	.	5
HP:0100582	HP:0100582	Nasal polyposis	0	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I	.	17
HP:0100582	HP:0100582	Nasal polyposis	0	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I	.	3
HP:0100582	HP:0100582	Nasal polyposis	0	TBX21 CL E G H	30009	11599	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance	.	1
HP:0100582	HP:0100582	Nasal polyposis	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0100582	HP:0100582	Nasal polyposis	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0100582	HP:0100582	Nasal polyposis	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0100582	HP:0100582	Nasal polyposis	0	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0100582	HP:0100582	Nasal polyposis	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.	20
HP:0100582	HP:0100582	Nasal polyposis	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	20

Genes (75) :CCDC103 CCDC39 CCDC40 CCDC65 CCNO CEACAM3 CEACAM6 CFAP221 CFAP298 CFAP300 CFTR CLCA4 DCTN4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 ECM1 EDNRA FCGR2A FOXJ1 GAS2L2 GAS8 GCLC GSTM3 HFE HMOX1 HYDIN KCNN4 LRRC56 MCIDAS MIF NEK10 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PTGER2 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 SPAG1 SPEF2 STK11 STK36 STX1A TAP1 TAP2 TAPBP TBX21 TGFB1 TTC12 UNC119 ZMYND10

Diseases (18) :ORPHA:244 OMIM:613808 ORPHA:586 OMIM:219700 OMIM:614935 OMIM:606763 OMIM:244400 ORPHA:530 OMIM:608647 OMIM:618695 OMIM:616037 OMIM:617092 OMIM:208550 OMIM:175200 ORPHA:2869 OMIM:604571 OMIM:615518 OMIM:615444

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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