Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030829	HP:0030829	Abnormal breath sound	0	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis			147
HP:0030829	HP:0030829	Abnormal breath sound	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0030829	HP:0030829	Abnormal breath sound	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0030829	HP:0030829	Abnormal breath sound	0	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0030829	HP:0030829	Abnormal breath sound	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0030829	HP:0030829	Abnormal breath sound	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0030829	HP:0030829	Abnormal breath sound	0	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0030829	HP:0030829	Abnormal breath sound	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0030829	HP:0030829	Abnormal breath sound	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0030829	HP:0030829	Abnormal breath sound	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0030829	HP:0030829	Abnormal breath sound	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0030829	HP:0030829	Abnormal breath sound	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0030829	HP:0030829	Abnormal breath sound	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0030829	HP:0030829	Abnormal breath sound	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0030829	HP:0030829	Abnormal breath sound	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0030829	HP:0030829	Abnormal breath sound	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0030829	HP:0030829	Abnormal breath sound	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0030829	HP:0030829	Abnormal breath sound	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis			1371
HP:0030829	HP:0030829	Abnormal breath sound	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0030829	HP:0030829	Abnormal breath sound	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0030829	HP:0030829	Abnormal breath sound	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0030829	HP:0030829	Abnormal breath sound	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type			54
HP:0030829	HP:0030829	Abnormal breath sound	0	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia			24
HP:0030829	HP:0030829	Abnormal breath sound	0	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			15
HP:0030829	HP:0030829	Abnormal breath sound	0	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			17
HP:0030829	HP:0030829	Abnormal breath sound	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0030829	HP:0030829	Abnormal breath sound	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0030829	HP:0030829	Abnormal breath sound	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0030829	HP:0030829	Abnormal breath sound	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0030829	HP:0030829	Abnormal breath sound	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0030829	HP:0030829	Abnormal breath sound	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0030829	HP:0030829	Abnormal breath sound	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0030829	HP:0030829	Abnormal breath sound	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0030829	HP:0030829	Abnormal breath sound	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0030829	HP:0030829	Abnormal breath sound	0	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37			21
HP:0030829	HP:0030829	Abnormal breath sound	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0030829	HP:0030829	Abnormal breath sound	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0030829	HP:0030829	Abnormal breath sound	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0030829	HP:0030829	Abnormal breath sound	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0030829	HP:0030829	Abnormal breath sound	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0030829	HP:0030829	Abnormal breath sound	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0030829	HP:0030829	Abnormal breath sound	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0030829	HP:0030829	Abnormal breath sound	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0030829	HP:0030829	Abnormal breath sound	0	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0030829	HP:0030829	Abnormal breath sound	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0030829	HP:0030829	Abnormal breath sound	0	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis			747
HP:0030829	HP:0030829	Abnormal breath sound	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0030829	HP:0030829	Abnormal breath sound	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0030829	HP:0030829	Abnormal breath sound	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0030829	HP:0030829	Abnormal breath sound	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0030829	HP:0030829	Abnormal breath sound	0	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0030829	HP:0030829	Abnormal breath sound	0	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20			4
HP:0030829	HP:0030829	Abnormal breath sound	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0030829	HP:0030829	Abnormal breath sound	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0030829	HP:0030829	Abnormal breath sound	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0030829	HP:0030829	Abnormal breath sound	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0030829	HP:0030829	Abnormal breath sound	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0030829	HP:0030829	Abnormal breath sound	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0030829	HP:0030829	Abnormal breath sound	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0030829	HP:0030829	Abnormal breath sound	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0030829	HP:0030829	Abnormal breath sound	0	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia
HP:0030829	HP:0030829	Abnormal breath sound	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia
HP:0030829	HP:0030829	Abnormal breath sound	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis			2
HP:0030829	HP:0030829	Abnormal breath sound	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0030829	HP:0030829	Abnormal breath sound	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0030829	HP:0030829	Abnormal breath sound	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0030829	HP:0030829	Abnormal breath sound	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0030829	HP:0030829	Abnormal breath sound	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0030829	HP:0030829	Abnormal breath sound	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0030829	HP:0030829	Abnormal breath sound	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0030829	HP:0030829	Abnormal breath sound	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0030829	HP:0030829	Abnormal breath sound	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0030829	HP:0030829	Abnormal breath sound	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0030829	HP:0030829	Abnormal breath sound	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0030829	HP:0030829	Abnormal breath sound	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0030829	HP:0030829	Abnormal breath sound	0	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0030829	HP:0030829	Abnormal breath sound	0	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis			133
HP:0030829	HP:0030829	Abnormal breath sound	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0030829	HP:0030829	Abnormal breath sound	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0030829	HP:0030829	Abnormal breath sound	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0030829	HP:0030829	Abnormal breath sound	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0030829	HP:0030829	Abnormal breath sound	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0030829	HP:0030829	Abnormal breath sound	0	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia			2
HP:0030829	HP:0030829	Abnormal breath sound	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0030829	HP:0030829	Abnormal breath sound	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0030829	HP:0030829	Abnormal breath sound	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0030829	HP:0030829	Abnormal breath sound	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0030829	HP:0030829	Abnormal breath sound	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0030829	HP:0030829	Abnormal breath sound	0	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis			26
HP:0030829	HP:0030829	Abnormal breath sound	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2			63
HP:0030829	HP:0030829	Abnormal breath sound	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0030829	HP:0030829	Abnormal breath sound	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0030829	HP:0030829	Abnormal breath sound	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0030829	HP:0030829	Abnormal breath sound	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0030829	HP:0030829	Abnormal breath sound	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0030829	HP:0030829	Abnormal breath sound	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0030829	HP:0030829	Abnormal breath sound	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0030829	HP:0030829	Abnormal breath sound	0	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis			77
HP:0030829	HP:0030829	Abnormal breath sound	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0030829	HP:0030829	Abnormal breath sound	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0030829	HP:0030829	Abnormal breath sound	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans			263
HP:0030829	HP:0030829	Abnormal breath sound	0	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated			263
HP:0030829	HP:0030829	Abnormal breath sound	0	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg			263
HP:0030829	HP:0030829	Abnormal breath sound	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg			263
HP:0030829	HP:0030829	Abnormal breath sound	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0030829	HP:0030829	Abnormal breath sound	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis			67
HP:0030829	HP:0030829	Abnormal breath sound	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0030829	HP:0030829	Abnormal breath sound	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis			61
HP:0030829	HP:0030829	Abnormal breath sound	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0030829	HP:0030829	Abnormal breath sound	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis			57
HP:0030829	HP:0030829	Abnormal breath sound	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0030829	HP:0030829	Abnormal breath sound	0	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency			131
HP:0030829	HP:0030829	Abnormal breath sound	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1			64
HP:0030829	HP:0030829	Abnormal breath sound	0	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis			19
HP:0030829	HP:0030829	Abnormal breath sound	0	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1			19
HP:0030829	HP:0030829	Abnormal breath sound	0	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis			10
HP:0030829	HP:0030829	Abnormal breath sound	0	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis			33
HP:0030829	HP:0030829	Abnormal breath sound	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease			2
HP:0030829	HP:0030829	Abnormal breath sound	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0030829	HP:0030829	Abnormal breath sound	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria			28
HP:0030829	HP:0030829	Abnormal breath sound	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0030829	HP:0030829	Abnormal breath sound	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0030829	HP:0030829	Abnormal breath sound	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0030829	HP:0030829	Abnormal breath sound	0	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood			51
HP:0030829	HP:0030829	Abnormal breath sound	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0030829	HP:0030829	Abnormal breath sound	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0030829	HP:0030829	Abnormal breath sound	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0030829	HP:0030829	Abnormal breath sound	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0030829	HP:0030829	Abnormal breath sound	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0030829	HP:0030829	Abnormal breath sound	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0030829	HP:0030829	Abnormal breath sound	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0030829	HP:0030829	Abnormal breath sound	0	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis			2
HP:0030829	HP:0030829	Abnormal breath sound	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0030829	HP:0030829	Abnormal breath sound	0	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis			48
HP:0030829	HP:0030829	Abnormal breath sound	0	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis			238
HP:0030829	HP:0030829	Abnormal breath sound	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0030829	HP:0030829	Abnormal breath sound	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0030829	HP:0030829	Abnormal breath sound	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy			214
HP:0030829	HP:0030829	Abnormal breath sound	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome			1
HP:0030829	HP:0030829	Abnormal breath sound	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0030829	HP:0030829	Abnormal breath sound	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0030829	HP:0030829	Abnormal breath sound	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0030829	HP:0030829	Abnormal breath sound	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0030829	HP:0030829	Abnormal breath sound	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0030829	HP:0031994	Bronchial breath sound	1	CL E G H
HP:0030829	HP:0032000	Pleural rub	1	CL E G H
HP:0030829	HP:0030831	Rhonchi	1	CL E G H
HP:0030829	HP:0030830	Crackles	1	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		147
HP:0030829	HP:0010307	Stridor	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0030829	HP:0010307	Stridor	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0030829	HP:0030830	Crackles	1	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0030829	HP:0030828	Wheezing	1	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0030829	HP:0030828	Wheezing	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0030829	HP:0010307	Stridor	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0030829	HP:0030828	Wheezing	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		36
HP:0030829	HP:0030828	Wheezing	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0030829	HP:0030828	Wheezing	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		126
HP:0030829	HP:0030828	Wheezing	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0030829	HP:0030828	Wheezing	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		182
HP:0030829	HP:0030828	Wheezing	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0030829	HP:0030828	Wheezing	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0030829	HP:0030828	Wheezing	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0030829	HP:0030828	Wheezing	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0030829	HP:0030828	Wheezing	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0030829	HP:0030830	Crackles	1	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		1371
HP:0030829	HP:0030828	Wheezing	1	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		1371
HP:0030829	HP:0010307	Stridor	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		65
HP:0030829	HP:0010307	Stridor	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0030829	HP:0010307	Stridor	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent		54
HP:0030829	HP:0010307	Stridor	1	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent		54
HP:0030829	HP:0030828	Wheezing	1	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional		24
HP:0030829	HP:0030830	Crackles	1	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional		15
HP:0030829	HP:0030830	Crackles	1	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional		17
HP:0030829	HP:0010307	Stridor	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0030829	HP:0010307	Stridor	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0030829	HP:0030828	Wheezing	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		116
HP:0030829	HP:0030828	Wheezing	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0030829	HP:0030828	Wheezing	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		78
HP:0030829	HP:0030828	Wheezing	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		63
HP:0030829	HP:0030828	Wheezing	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		27
HP:0030829	HP:0030828	Wheezing	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		62
HP:0030829	HP:0030828	Wheezing	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0030829	HP:0030828	Wheezing	1	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37	.		21
HP:0030829	HP:0030828	Wheezing	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0030829	HP:0030828	Wheezing	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		542
HP:0030829	HP:0030828	Wheezing	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		527
HP:0030829	HP:0030828	Wheezing	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		18
HP:0030829	HP:0030828	Wheezing	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		73
HP:0030829	HP:0030828	Wheezing	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		104
HP:0030829	HP:0030828	Wheezing	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		2
HP:0030829	HP:0030828	Wheezing	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		167
HP:0030829	HP:0030830	Crackles	1	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0030829	HP:0030828	Wheezing	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		44
HP:0030829	HP:0030830	Crackles	1	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		747
HP:0030829	HP:0010307	Stridor	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0030829	HP:0010307	Stridor	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0030829	HP:0010307	Stridor	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0030829	HP:0010307	Stridor	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0030829	HP:0030830	Crackles	1	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0030829	HP:0030828	Wheezing	1	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20			4
HP:0030829	HP:0010307	Stridor	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0030829	HP:0030828	Wheezing	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0030829	HP:0010307	Stridor	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0030829	HP:0030828	Wheezing	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		1
HP:0030829	HP:0030828	Wheezing	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		9
HP:0030829	HP:0010307	Stridor	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0030829	HP:0010307	Stridor	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0030829	HP:0010307	Stridor	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional		30
HP:0030829	HP:0030828	Wheezing	1	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional
HP:0030829	HP:0030828	Wheezing	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional
HP:0030829	HP:0030830	Crackles	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040283 - Occasional		2
HP:0030829	HP:0030828	Wheezing	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0030829	HP:0010307	Stridor	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0030829	HP:0010307	Stridor	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0030829	HP:0010307	Stridor	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0030829	HP:0010307	Stridor	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		116
HP:0030829	HP:0010307	Stridor	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		167
HP:0030829	HP:0010307	Stridor	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		135
HP:0030829	HP:0030828	Wheezing	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0030829	HP:0010307	Stridor	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0030829	HP:0010307	Stridor	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.		11
HP:0030829	HP:0030828	Wheezing	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		13
HP:0030829	HP:0010307	Stridor	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0030829	HP:0010307	Stridor	1	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0030829	HP:0030830	Crackles	1	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		133
HP:0030829	HP:0010307	Stridor	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0030829	HP:0030828	Wheezing	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0030829	HP:0010307	Stridor	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0030829	HP:0030830	Crackles	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0030829	HP:0030828	Wheezing	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0030829	HP:0030828	Wheezing	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		50
HP:0030829	HP:0030828	Wheezing	1	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional		2
HP:0030829	HP:0030828	Wheezing	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0030829	HP:0030828	Wheezing	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0030829	HP:0030828	Wheezing	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0030829	HP:0030828	Wheezing	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0030829	HP:0030828	Wheezing	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		201
HP:0030829	HP:0030830	Crackles	1	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		26
HP:0030829	HP:0010307	Stridor	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.		63
HP:0030829	HP:0010307	Stridor	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0030829	HP:0030828	Wheezing	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0030829	HP:0030828	Wheezing	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		200
HP:0030829	HP:0030828	Wheezing	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		31
HP:0030829	HP:0030828	Wheezing	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		5
HP:0030829	HP:0030828	Wheezing	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		58
HP:0030829	HP:0030828	Wheezing	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0030829	HP:0030830	Crackles	1	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		77
HP:0030829	HP:0030830	Crackles	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional		1200
HP:0030829	HP:0010307	Stridor	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.		11
HP:0030829	HP:0010307	Stridor	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040284 - Very rare		263
HP:0030829	HP:0010307	Stridor	1	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated	.		263
HP:0030829	HP:0010307	Stridor	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg			263
HP:0030829	HP:0010307	Stridor	1	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg			263
HP:0030829	HP:0030828	Wheezing	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		67
HP:0030829	HP:0030828	Wheezing	1	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		67
HP:0030829	HP:0030830	Crackles	1	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		67
HP:0030829	HP:0030828	Wheezing	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		61
HP:0030829	HP:0030828	Wheezing	1	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		61
HP:0030829	HP:0030830	Crackles	1	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		61
HP:0030829	HP:0030828	Wheezing	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		57
HP:0030829	HP:0030828	Wheezing	1	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		57
HP:0030829	HP:0030830	Crackles	1	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent		57
HP:0030829	HP:0010307	Stridor	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0030829	HP:0030828	Wheezing	1	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency			131
HP:0030829	HP:0010307	Stridor	1	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1			64
HP:0030829	HP:0030830	Crackles	1	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		19
HP:0030829	HP:0030830	Crackles	1	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1			19
HP:0030829	HP:0030830	Crackles	1	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		10
HP:0030829	HP:0030830	Crackles	1	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		33
HP:0030829	HP:0010307	Stridor	1	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent		2
HP:0030829	HP:0010307	Stridor	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0030829	HP:0010307	Stridor	1	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	.		28
HP:0030829	HP:0010307	Stridor	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		28
HP:0030829	HP:0010307	Stridor	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0030829	HP:0010307	Stridor	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0030829	HP:0010307	Stridor	1	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood			51
HP:0030829	HP:0010307	Stridor	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0030829	HP:0010307	Stridor	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		9
HP:0030829	HP:0010307	Stridor	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0030829	HP:0010307	Stridor	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0030829	HP:0030828	Wheezing	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		45
HP:0030829	HP:0030828	Wheezing	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		15
HP:0030829	HP:0030828	Wheezing	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		3
HP:0030829	HP:0030830	Crackles	1	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		2
HP:0030829	HP:0010307	Stridor	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		4
HP:0030829	HP:0030830	Crackles	1	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		48
HP:0030829	HP:0030830	Crackles	1	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent		238
HP:0030829	HP:0030830	Crackles	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0030829	HP:0010307	Stridor	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0030829	HP:0010307	Stridor	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.		214
HP:0030829	HP:0010307	Stridor	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.		1
HP:0030829	HP:0030828	Wheezing	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0030829	HP:0010307	Stridor	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0030829	HP:0010307	Stridor	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional		1
HP:0030829	HP:0010307	Stridor	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0030829	HP:0030828	Wheezing	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0030829	HP:0031995	Squawks	2	CL E G H
HP:0030829	HP:0031999	Expiratory crackles	2	CL E G H
HP:0030829	HP:0031996	Inspiratory crackles	2	CL E G H
HP:0030829	HP:0005348	Inspiratory stridor	2	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0030829	HP:0005348	Inspiratory stridor	2	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.		102
HP:0030829	HP:0005348	Inspiratory stridor	2	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0030829	HP:0005348	Inspiratory stridor	2	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0030829	HP:0005348	Inspiratory stridor	2	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0030829	HP:0005348	Inspiratory stridor	2	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional		3
HP:0030829	HP:0005348	Inspiratory stridor	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0030829	HP:0005348	Inspiratory stridor	2	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0030829	HP:0005348	Inspiratory stridor	2	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0030829	HP:0005348	Inspiratory stridor	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0030829	HP:0005348	Inspiratory stridor	2	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg			263
HP:0030829	HP:0005348	Inspiratory stridor	2	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg	.	HP:0003621 - Juvenile onset	263
HP:0030829	HP:0005348	Inspiratory stridor	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0030829	HP:0005348	Inspiratory stridor	2	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040283 - Occasional		64
HP:0030829	HP:0005348	Inspiratory stridor	2	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0030829	HP:0005348	Inspiratory stridor	2	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood			51
HP:0030829	HP:0005348	Inspiratory stridor	2	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0030829	HP:0031998	Late inspiratory crackles	3	CL E G H
HP:0030829	HP:0031997	Early inspiratory crackles	3	CL E G H
HP:0030829	HP:0004886	Congenital laryngeal stridor	3	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0030829	HP:0004886	Congenital laryngeal stridor	3	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0030829	HP:0004886	Congenital laryngeal stridor	3	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0030829	HP:0004886	Congenital laryngeal stridor	3	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0030829	HP:0004875	Neonatal inspiratory stridor	3	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional		14
HP:0030829	HP:0004886	Congenital laryngeal stridor	3	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0030829	HP:0004875	Neonatal inspiratory stridor	3	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent		263
HP:0030829	HP:0004886	Congenital laryngeal stridor	3	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0030829	HP:0005951	Progressive inspiratory stridor	3	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood	.		51
HP:0030829	HP:0004886	Congenital laryngeal stridor	3	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32