Human Phenotype Ontology

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:0030878	HP:0030878	Abnormality on pulmonary function testing	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		96
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent	96
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare	54
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6		204
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare	184
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis		1371
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive		478
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis		15
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4		15
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis		17
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis		3
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial		91
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis		40
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia		145
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5		157
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive		10
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent	1
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis		2
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4		123
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion		2
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42		13
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	MESP2 CL E G H	145873	29659	OMIM:608681	Spondylocostal dysostosis 2, autosomal recessive		45
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy		1269
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1269
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A		75
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare	220
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome		217
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare	9
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare	162
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS		15
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1200
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis		67
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis		61
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis		57
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy		144
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		144
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent	144
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis		7
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis		7
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare	87
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare	47
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare	22
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch		14
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare	124
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare	238
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		54
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		108
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome		27
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy		7128
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0030878	HP:0030878	Abnormality on pulmonary function testing	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0030878	HP:0033372	Abnormal KCO	1	CL E G H
HP:0030878	HP:0033749	Abnormal functional residual capacity	1	CL E G H
HP:0030878	HP:0033772	Abnormal RV/TLC ratio	1	CL E G H
HP:0030878	HP:0033350	Elevated forced expiratory volume in one second	1	CL E G H
HP:0030878	HP:0033760	Decreased maximal oxygen uptake	1	CL E G H
HP:0030878	HP:0033632	Abnormal alveolar volume	1	CL E G H
HP:0030878	HP:0032355	Decreased peak expiratory flow	1	CL E G H
HP:0030878	HP:0033752	Abnormal residual volume	1	CL E G H
HP:0030878	HP:0033169	Reduced total lung capacity	1	CL E G H
HP:0030878	HP:0045049	Abnormal DLCO	1	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0030878	HP:0002792	Reduced vital capacity	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0030878	HP:0032341	Reduced forced vital capacity	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0030878	HP:0002792	Reduced vital capacity	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0030878	HP:0002792	Reduced vital capacity	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0030878	HP:0002792	Reduced vital capacity	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	1
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	1
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0030878	HP:0032341	Reduced forced vital capacity	1	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	38
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0030878	HP:0032359	Decreased forced expiratory flow 25-75%	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0030878	HP:0032341	Reduced forced vital capacity	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0030878	HP:0030877	Reduced FEV1/FVC ratio	1	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	1371
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent	11
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	74
HP:0030878	HP:0002792	Reduced vital capacity	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	74
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	53
HP:0030878	HP:0002792	Reduced vital capacity	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	53
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	88
HP:0030878	HP:0002792	Reduced vital capacity	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	88
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	139
HP:0030878	HP:0002792	Reduced vital capacity	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	139
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0030878	HP:0002792	Reduced vital capacity	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0030878	HP:0032341	Reduced forced vital capacity	1	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.	478
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0030878	HP:0045049	Abnormal DLCO	1	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	10
HP:0030878	HP:0002792	Reduced vital capacity	1	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040282 - Frequent
HP:0030878	HP:0032341	Reduced forced vital capacity	1	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent	15
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4		15
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4		15
HP:0030878	HP:0032341	Reduced forced vital capacity	1	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4		15
HP:0030878	HP:0045049	Abnormal DLCO	1	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4		15
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent	17
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0030878	HP:0030877	Reduced FEV1/FVC ratio	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional	3
HP:0030878	HP:0002792	Reduced vital capacity	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial		91
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	91
HP:0030878	HP:0002792	Reduced vital capacity	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	91
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0030878	HP:0045049	Abnormal DLCO	1	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis		40
HP:0030878	HP:0045049	Abnormal DLCO	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0030878	HP:0030877	Reduced FEV1/FVC ratio	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0030878	HP:0032341	Reduced forced vital capacity	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0030878	HP:0032359	Decreased forced expiratory flow 25-75%	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040283 - Occasional	145
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0030878	HP:0032341	Reduced forced vital capacity	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0030878	HP:0032341	Reduced forced vital capacity	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040282 - Frequent	240
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	.
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.	10
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0030878	HP:0030877	Reduced FEV1/FVC ratio	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent	1
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0030878	HP:0045049	Abnormal DLCO	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis		2
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040282 - Frequent	2
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.	121
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.	123
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	32
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	4
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0030878	HP:0032341	Reduced forced vital capacity	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0030878	HP:0002792	Reduced vital capacity	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0030878	HP:0002792	Reduced vital capacity	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0030878	HP:0032341	Reduced forced vital capacity	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	124
HP:0030878	HP:0002792	Reduced vital capacity	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	124
HP:0030878	HP:0002792	Reduced vital capacity	1	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.	2
HP:0030878	HP:0032341	Reduced forced vital capacity	1	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42		13
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.	158
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	MESP2 CL E G H	145873	29659	OMIM:608681	Spondylocostal dysostosis 2, autosomal recessive		45
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1
HP:0030878	HP:0045049	Abnormal DLCO	1	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	72
HP:0030878	HP:0002792	Reduced vital capacity	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	72
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	1269
HP:0030878	HP:0032341	Reduced forced vital capacity	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0030878	HP:0002792	Reduced vital capacity	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0030878	HP:0002792	Reduced vital capacity	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040283 - Occasional	75
HP:0030878	HP:0002792	Reduced vital capacity	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0030878	HP:0002792	Reduced vital capacity	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	HP:0040283 - Occasional	217
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0030878	HP:0045049	Abnormal DLCO	1	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0030878	HP:0002792	Reduced vital capacity	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0030878	HP:0032341	Reduced forced vital capacity	1	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	7
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	11
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional	217
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0030878	HP:0045049	Abnormal DLCO	1	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0030878	HP:0032341	Reduced forced vital capacity	1	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040284 - Very rare	105
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	10
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0030878	HP:0002792	Reduced vital capacity	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0030878	HP:0002792	Reduced vital capacity	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	73
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	73
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS		15
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0030878	HP:0045049	Abnormal DLCO	1	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0030878	HP:0032341	Reduced forced vital capacity	1	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0030878	HP:0032341	Reduced forced vital capacity	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0030878	HP:0002792	Reduced vital capacity	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	263
HP:0030878	HP:0002792	Reduced vital capacity	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	263
HP:0030878	HP:0030877	Reduced FEV1/FVC ratio	1	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	67
HP:0030878	HP:0030877	Reduced FEV1/FVC ratio	1	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	61
HP:0030878	HP:0030877	Reduced FEV1/FVC ratio	1	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	57
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	144
HP:0030878	HP:0032341	Reduced forced vital capacity	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0030878	HP:0002792	Reduced vital capacity	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0030878	HP:0045049	Abnormal DLCO	1	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0030878	HP:0045049	Abnormal DLCO	1	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0030878	HP:0045049	Abnormal DLCO	1	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0030878	HP:0032341	Reduced forced vital capacity	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0030878	HP:0045049	Abnormal DLCO	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C	.	83
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0030878	HP:0032341	Reduced forced vital capacity	1	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis	.	7
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040282 - Frequent	7
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0030878	HP:0045049	Abnormal DLCO	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.	14
HP:0030878	HP:0032341	Reduced forced vital capacity	1	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	HP:0040284 - Very rare	1129
HP:0030878	HP:0032341	Reduced forced vital capacity	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0030878	HP:0045049	Abnormal DLCO	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0030878	HP:0045049	Abnormal DLCO	1	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0030878	HP:0032341	Reduced forced vital capacity	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0030878	HP:0032359	Decreased forced expiratory flow 25-75%	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0030878	HP:0032342	Reduced forced expiratory volume in one second	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0030878	HP:0045049	Abnormal DLCO	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	32
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	12
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0030878	HP:0032359	Decreased forced expiratory flow 25-75%	1	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0030878	HP:0002792	Reduced vital capacity	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0030878	HP:0032341	Reduced forced vital capacity	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0030878	HP:0002792	Reduced vital capacity	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0030878	HP:0002792	Reduced vital capacity	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0030878	HP:0032341	Reduced forced vital capacity	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040283 - Occasional	27
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040281 - Very frequent	1090
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040281 - Very frequent	2738
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	7128
HP:0030878	HP:0002792	Reduced vital capacity	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0030878	HP:0002792	Reduced vital capacity	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0030878	HP:0032341	Reduced forced vital capacity	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0030878	HP:0002792	Reduced vital capacity	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040284 - Very rare	63
HP:0030878	HP:0002091	Restrictive ventilatory defect	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0030878	HP:0045049	Abnormal DLCO	1	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0030878	HP:0045049	Abnormal DLCO	1	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0030878	HP:0033374	Decreased KCO	2	CL E G H
HP:0030878	HP:0033751	Elevated functional residual capacity	2	CL E G H
HP:0030878	HP:0032361	Decreased post-bronchodilator forced expiratory flow 25-75%	2	CL E G H
HP:0030878	HP:0045050	Increased DLCO	2	CL E G H
HP:0030878	HP:0033373	Increased KCO	2	CL E G H
HP:0030878	HP:0033750	Reduced functional residual capacity	2	CL E G H
HP:0030878	HP:0032360	Decreased pre-bronchodilator forced expiratory flow 25-75%	2	CL E G H
HP:0030878	HP:0033773	Decreased RV/TLC ratio	2	CL E G H
HP:0030878	HP:0032358	Decreased post-bronchodilator forced expiratory volume in one second	2	CL E G H
HP:0030878	HP:0033634	Increased alveolar volume	2	CL E G H
HP:0030878	HP:0032357	Decreased post-bronchodilator forced vital capacity	2	CL E G H
HP:0030878	HP:0033251	Elevated residual volume	2	CL E G H
HP:0030878	HP:0033633	Decreased alveolar volume	2	CL E G H
HP:0030878	HP:0032356	Decreased pre-bronchodilator forced vital capacity	2	CL E G H
HP:0030878	HP:0033753	Reduced residual volume	2	CL E G H
HP:0030878	HP:0033240	Elevated RV/TLC ratio	2	CL E G H
HP:0030878	HP:0045051	Decreased DLCO	2	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0030878	HP:0045051	Decreased DLCO	2	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0030878	HP:0045051	Decreased DLCO	2	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4		15
HP:0030878	HP:0045051	Decreased DLCO	2	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040281 - Very frequent	40
HP:0030878	HP:0045051	Decreased DLCO	2	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0030878	HP:0045051	Decreased DLCO	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040282 - Frequent	2
HP:0030878	HP:0045051	Decreased DLCO	2	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0030878	HP:0045051	Decreased DLCO	2	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0030878	HP:0045051	Decreased DLCO	2	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0030878	HP:0045051	Decreased DLCO	2	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0030878	HP:0045051	Decreased DLCO	2	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0030878	HP:0045051	Decreased DLCO	2	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0030878	HP:0045051	Decreased DLCO	2	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0030878	HP:0045051	Decreased DLCO	2	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0030878	HP:0045051	Decreased DLCO	2	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0030878	HP:0045051	Decreased DLCO	2	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0030878	HP:0045051	Decreased DLCO	2	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0030878	HP:0045051	Decreased DLCO	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0030878	HP:0045051	Decreased DLCO	2	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0030878	HP:0045051	Decreased DLCO	2	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5