Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACE CL E G H	1636	267430	Renal dysplasia	267430	C3536714	OMIM	1	324	2707	106180
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACOX1 CL E G H	51	2971				ORPHA	1	517	119	609751
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACTA1 CL E G H	58	97244				ORPHA	1	392	129	102610
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACTA1 CL E G H	58	171436				ORPHA	1	392	129	102610
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	392	129	102610
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACVR1 CL E G H	90	337				ORPHA	1	169	171	102576
HP:0002093	HP:0002093	Respiratory insufficiency	0	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	242	21869	610345
HP:0002093	HP:0002093	Respiratory insufficiency	0	AGT CL E G H	183	267430	Renal dysplasia	267430	C3536714	OMIM	1	161	333	106150
HP:0002093	HP:0002093	Respiratory insufficiency	0	AGTR1 CL E G H	185	267430	Renal dysplasia	267430	C3536714	OMIM	1	107	336	106165
HP:0002093	HP:0002093	Respiratory insufficiency	0	AIFM1 CL E G H	9131	238329				ORPHA	1	487	8768	300169
HP:0002093	HP:0002093	Respiratory insufficiency	0	ALMS1 CL E G H	7840	64				ORPHA	1	4321	428	606844
HP:0002093	HP:0002093	Respiratory insufficiency	0	ASAH1 CL E G H	427	333				ORPHA	1	712	735	613468
HP:0002093	HP:0002093	Respiratory insufficiency	0	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	712	735	613468
HP:0002093	HP:0002093	Respiratory insufficiency	0	ASNS CL E G H	440	615574	Asparagine synthetase deficiency	615574	C3809971	OMIM	1	432	753	108370
HP:0002093	HP:0002093	Respiratory insufficiency	0	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	856	939	603883
HP:0002093	HP:0002093	Respiratory insufficiency	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	334	1020	603647
HP:0002093	HP:0002093	Respiratory insufficiency	0	BDNF CL E G H	627	661				ORPHA	1	57	1033	113505
HP:0002093	HP:0002093	Respiratory insufficiency	0	BIN1 CL E G H	274	169186				ORPHA	1	552	1052	601248
HP:0002093	HP:0002093	Respiratory insufficiency	0	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	244	24154	608699
HP:0002093	HP:0002093	Respiratory insufficiency	0	CEP120 CL E G H	153241	474				ORPHA	1	305	26690	613446
HP:0002093	HP:0002093	Respiratory insufficiency	0	CEP120 CL E G H	153241	616300	Short-rib thoracic dysplasia 13 with or without polydactyly	616300	C4225378	OMIM	1	305	26690	613446
HP:0002093	HP:0002093	Respiratory insufficiency	0	CFL2 CL E G H	1073	171436				ORPHA	1	147	1875	601443
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	357	1961	100710
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	408	1965	100720
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	408	1965	100720
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	408	1965	100720
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	795	1966	100725
HP:0002093	HP:0002093	Respiratory insufficiency	0	CLCF1 CL E G H	23529	1545	Corsello Opitz syndrome			ORPHA	1	33	17412	607672
HP:0002093	HP:0002093	Respiratory insufficiency	0	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL11A1 CL E G H	1301	2021				ORPHA	1	1671	2186	120280
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL11A2 CL E G H	1302	2021				ORPHA	1	1240	2187	120290
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL12A1 CL E G H	1303	616470	Ullrich congenital muscular dystrophy 2	616470	C4225314	OMIM	1	1944	2188	120320
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	397	2190	120350
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL1A1 CL E G H	1277	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	2016	2197	120150
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL1A2 CL E G H	1278	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	1458	2198	120160
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	1	2274	2201	120180
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	1	2531	2209	120215
HP:0002093	HP:0002093	Respiratory insufficiency	0	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	465	2226	603033
HP:0002093	HP:0002093	Respiratory insufficiency	0	COQ4 CL E G H	51117	616276	Coenzyme Q10 deficiency, primary, 7	616276	C4225392	OMIM	1	209	19693	612898
HP:0002093	HP:0002093	Respiratory insufficiency	0	COQ9 CL E G H	57017	614654	Coenzyme Q10 deficiency, primary, 5	614654	C3553374	OMIM	1	183	25302	612837
HP:0002093	HP:0002093	Respiratory insufficiency	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	293	2260	602125
HP:0002093	HP:0002093	Respiratory insufficiency	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	251	2263	603646
HP:0002093	HP:0002093	Respiratory insufficiency	0	CPS1 CL E G H	1373	147				ORPHA	1	1152	2323	608307
HP:0002093	HP:0002093	Respiratory insufficiency	0	CPT2 CL E G H	1376	228308				ORPHA	1	720	2330	600650
HP:0002093	HP:0002093	Respiratory insufficiency	0	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	720	2330	600650
HP:0002093	HP:0002093	Respiratory insufficiency	0	CRLF1 CL E G H	9244	1545	Corsello Opitz syndrome			ORPHA	1	80	2364	604237
HP:0002093	HP:0002093	Respiratory insufficiency	0	CSF2RB CL E G H	1439	614370	Surfactant metabolism dysfunction, pulmonary, 5	614370	C3280574	OMIM	1	361	2436	138981
HP:0002093	HP:0002093	Respiratory insufficiency	0	CTLA4 CL E G H	1493	900				ORPHA	1	190	2505	123890
HP:0002093	HP:0002093	Respiratory insufficiency	0	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	527	2529	116840
HP:0002093	HP:0002093	Respiratory insufficiency	0	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	751	2605	606530
HP:0002093	HP:0002093	Respiratory insufficiency	0	DCTN1 CL E G H	1639	168605	Perry syndrome	168605	C1868594	OMIM	1	858	2711	601143
HP:0002093	HP:0002093	Respiratory insufficiency	0	DLL3 CL E G H	10683	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	248	2909	602768
HP:0002093	HP:0002093	Respiratory insufficiency	0	DMD CL E G H	1756	98896				ORPHA	1	7370	2928	300377
HP:0002093	HP:0002093	Respiratory insufficiency	0	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	7370	2928	300377
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNM2 CL E G H	1785	615368	Lethal congenital contracture syndrome 5	615368	C3809272	OMIM	1	885	2974	602378
HP:0002093	HP:0002093	Respiratory insufficiency	0	DOK7 CL E G H	285489	994				ORPHA	1	840	26594	610285
HP:0002093	HP:0002093	Respiratory insufficiency	0	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	2927	1090	113810
HP:0002093	HP:0002093	Respiratory insufficiency	0	DYNC2H1 CL E G H	79659	93271				ORPHA	1	1521	2962	603297
HP:0002093	HP:0002093	Respiratory insufficiency	0	DYNC2H1 CL E G H	79659	474				ORPHA	1	1521	2962	603297
HP:0002093	HP:0002093	Respiratory insufficiency	0	DYNC2LI1 CL E G H	51626	474				ORPHA	1	414	24595	617083
HP:0002093	HP:0002093	Respiratory insufficiency	0	DZIP1L CL E G H	199221	731				ORPHA	1	90	26551	617570
HP:0002093	HP:0002093	Respiratory insufficiency	0	EDN3 CL E G H	1908	661				ORPHA	1	155	3178	131242
HP:0002093	HP:0002093	Respiratory insufficiency	0	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	190	17944	606489
HP:0002093	HP:0002093	Respiratory insufficiency	0	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	156	9137	606180
HP:0002093	HP:0002093	Respiratory insufficiency	0	FBN1 CL E G H	2200	614185	Geleophysic dysplasia 2	614185	C3280054	OMIM	1	5970	3603	134797
HP:0002093	HP:0002093	Respiratory insufficiency	0	FGFR1 CL E G H	2260	2117	Encephalopathy recurrent of childhood			ORPHA	1	688	3688	136350
HP:0002093	HP:0002093	Respiratory insufficiency	0	FGFR3 CL E G H	2261	1860				ORPHA	1	746	3690	134934
HP:0002093	HP:0002093	Respiratory insufficiency	0	FGFR3 CL E G H	2261	93274				ORPHA	1	746	3690	134934
HP:0002093	HP:0002093	Respiratory insufficiency	0	FGFR3 CL E G H	2261	187600	Thanatophoric dysplasia type 1	187600	C1868678	OMIM	1	746	3690	134934
HP:0002093	HP:0002093	Respiratory insufficiency	0	FGFR3 CL E G H	2261	187601	Thanatophoric dysplasia, type 2	187601	C1300257	OMIM	1	746	3690	134934
HP:0002093	HP:0002093	Respiratory insufficiency	0	FHL1 CL E G H	2273	300696	Myopathy with postural muscle atrophy, X-linked	300696	C2678055	OMIM	1	517	3702	300163
HP:0002093	HP:0002093	Respiratory insufficiency	0	FKBP10 CL E G H	60681	2771	Hydrocephalus costovertebral dysplasia Sprengel anomaly			ORPHA	1	292	18169	607063
HP:0002093	HP:0002093	Respiratory insufficiency	0	FKRP CL E G H	79147	613153	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	613153	C3150413	OMIM	1	787	17997	606596
HP:0002093	HP:0002093	Respiratory insufficiency	0	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	783	3622	607440
HP:0002093	HP:0002093	Respiratory insufficiency	0	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	121	24671	610595
HP:0002093	HP:0002093	Respiratory insufficiency	0	FLNA CL E G H	2316	304120	Oto-palato-digital syndrome, type II	304120	C1844696	OMIM	1	2538	3754	300017
HP:0002093	HP:0002093	Respiratory insufficiency	0	FLNB CL E G H	2317	56305				ORPHA	1	1155	3755	603381
HP:0002093	HP:0002093	Respiratory insufficiency	0	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	3455	3756	102565
HP:0002093	HP:0002093	Respiratory insufficiency	0	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	218	24861	611045
HP:0002093	HP:0002093	Respiratory insufficiency	0	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2068	4065	606800
HP:0002093	HP:0002093	Respiratory insufficiency	0	GDNF CL E G H	2668	661				ORPHA	1	131	4232	600837
HP:0002093	HP:0002093	Respiratory insufficiency	0	GLUL CL E G H	2752	610015	Glutamine deficiency, congenital	610015	C1864910	OMIM	1	220	4341	138290
HP:0002093	HP:0002093	Respiratory insufficiency	0	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	630	4801	600890
HP:0002093	HP:0002093	Respiratory insufficiency	0	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	263	4803	143450
HP:0002093	HP:0002093	Respiratory insufficiency	0	HES7 CL E G H	84667	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	96	15977	608059
HP:0002093	HP:0002093	Respiratory insufficiency	0	HLA-DPA1 CL E G H	3113	900				ORPHA	1	15	4938	142880
HP:0002093	HP:0002093	Respiratory insufficiency	0	HLA-DPB1 CL E G H	3115	900				ORPHA	1	15	4940	142858
HP:0002093	HP:0002093	Respiratory insufficiency	0	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	547	5173	190020
HP:0002093	HP:0002093	Respiratory insufficiency	0	HSPG2 CL E G H	3339	1865				ORPHA	1	1830	5273	142461
HP:0002093	HP:0002093	Respiratory insufficiency	0	IFT140 CL E G H	9742	474				ORPHA	1	1284	29077	614620
HP:0002093	HP:0002093	Respiratory insufficiency	0	IFT172 CL E G H	26160	474				ORPHA	1	989	30391	607386
HP:0002093	HP:0002093	Respiratory insufficiency	0	IFT80 CL E G H	57560	474				ORPHA	1	466	29262	611177
HP:0002093	HP:0002093	Respiratory insufficiency	0	IFT80 CL E G H	57560	93271				ORPHA	1	466	29262	611177
HP:0002093	HP:0002093	Respiratory insufficiency	0	INPPL1 CL E G H	3636	2746	Hoyeraal syndrome			ORPHA	1	295	6080	600829
HP:0002093	HP:0002093	Respiratory insufficiency	0	INVS CL E G H	27130	602088	Infantile nephronophthisis	602088	C1865872	OMIM	1	581	17870	243305
HP:0002093	HP:0002093	Respiratory insufficiency	0	JAK2 CL E G H	3717	729	Anti-factor 8 autoimmunization			ORPHA	1	293	6192	147796
HP:0002093	HP:0002093	Respiratory insufficiency	0	KCNJ6 CL E G H	3763	435628				ORPHA	1	122	6267	600877
HP:0002093	HP:0002093	Respiratory insufficiency	0	KLHL41 CL E G H	10324	171436				ORPHA	1	220	16905	607701
HP:0002093	HP:0002093	Respiratory insufficiency	0	LARS2 CL E G H	23395	617021	Hydrops, lactic acidosis, and sideroblastic anemia	617021	C4310761	OMIM	1	267	17095	604544
HP:0002093	HP:0002093	Respiratory insufficiency	0	LFNG CL E G H	3955	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	219	6560	602576
HP:0002093	HP:0002093	Respiratory insufficiency	0	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	335	16429	607031
HP:0002093	HP:0002093	Respiratory insufficiency	0	LIFR CL E G H	3977	601559	Stuve-Wiedemann syndrome	601559	C0796176	OMIM	1	721	6597	151443
HP:0002093	HP:0002093	Respiratory insufficiency	0	LIG4 CL E G H	3981	235				ORPHA	1	510	6601	601837
HP:0002093	HP:0002093	Respiratory insufficiency	0	LMNA CL E G H	4000	157973				ORPHA	1	1622	6636	150330
HP:0002093	HP:0002093	Respiratory insufficiency	0	LMOD3 CL E G H	56203	171436				ORPHA	1	326	6649	616112
HP:0002093	HP:0002093	Respiratory insufficiency	0	LTBP4 CL E G H	8425	98896				ORPHA	1	540	6717	604710
HP:0002093	HP:0002093	Respiratory insufficiency	0	MARS CL E G H	4141	615486	Interstitial lung and liver disease	615486	C4225400	OMIM	1		6898	156560
HP:0002093	HP:0002093	Respiratory insufficiency	0	MECP2 CL E G H	4204	778				ORPHA	1	1778	6990	300005
HP:0002093	HP:0002093	Respiratory insufficiency	0	MECP2 CL E G H	4204	300673	Severe neonatal-onset encephalopathy with microcephaly	300673	C1968556	OMIM	1	1778	6990	300005
HP:0002093	HP:0002093	Respiratory insufficiency	0	MESP2 CL E G H	145873	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	337	29659	605195
HP:0002093	HP:0002093	Respiratory insufficiency	0	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	78	16205	615076
HP:0002093	HP:0002093	Respiratory insufficiency	0	MPL CL E G H	4352	729	Anti-factor 8 autoimmunization			ORPHA	1	447	7217	159530
HP:0002093	HP:0002093	Respiratory insufficiency	0	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0002093	HP:0002093	Respiratory insufficiency	0	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0002093	HP:0002093	Respiratory insufficiency	0	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0002093	HP:0002093	Respiratory insufficiency	0	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0002093	HP:0002093	Respiratory insufficiency	0	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0002093	HP:0002093	Respiratory insufficiency	0	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0002093	HP:0002093	Respiratory insufficiency	0	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0002093	HP:0002093	Respiratory insufficiency	0	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0002093	HP:0002093	Respiratory insufficiency	0	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0002093	HP:0002093	Respiratory insufficiency	0	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0002093	HP:0002093	Respiratory insufficiency	0	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0002093	HP:0002093	Respiratory insufficiency	0	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0002093	HP:0002093	Respiratory insufficiency	0	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0002093	HP:0002093	Respiratory insufficiency	0	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0002093	HP:0002093	Respiratory insufficiency	0	MTRR CL E G H	4552	2169	Epilepsy with myoclono-astatic crisis			ORPHA	1	668	7473	602568
HP:0002093	HP:0002093	Respiratory insufficiency	0	MUSK CL E G H	4593	994				ORPHA	1	496	7525	601296
HP:0002093	HP:0002093	Respiratory insufficiency	0	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	496	7525	601296
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYD88 CL E G H	4615	33226				ORPHA	1	104	7562	602170
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYH7 CL E G H	4625	1880				ORPHA	1	3612	7577	160760
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	3612	7577	160760
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYH7 CL E G H	4625	255160	Myopathy, myosin storage, autosomal recessive	255160	C1850709	OMIM	1	3612	7577	160760
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	75	33778	615345
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYO1H CL E G H	283446	661				ORPHA	1	30	13879	614636
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	172	7608	604875
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYOD1 CL E G H	4654	994				ORPHA	1	35	7611	159970
HP:0002093	HP:0002093	Respiratory insufficiency	0	NALCN CL E G H	259232	616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	616266	C4225398	OMIM	1	653	19082	611549
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	332	7707	157655
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	104	7711	602694
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFS8 CL E G H	4728	618222	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2	618222		OMIM	1	98	7715	602141
HP:0002093	HP:0002093	Respiratory insufficiency	0	NEB CL E G H	4703	171436				ORPHA	1	6444	7720	161650
HP:0002093	HP:0002093	Respiratory insufficiency	0	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	183	14537	601015
HP:0002093	HP:0002093	Respiratory insufficiency	0	NSUN2 CL E G H	54888	235				ORPHA	1	443	25994	610916
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX1 CL E G H	5189	912				ORPHA	1	1205	8850	602136
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX10 CL E G H	5192	912				ORPHA	1	654	8851	602859
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX11B CL E G H	8799	912				ORPHA	1	350	8853	603867
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX12 CL E G H	5193	912				ORPHA	1	360	8854	601758
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX13 CL E G H	5194	912				ORPHA	1	397	8855	601789
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX14 CL E G H	5195	912				ORPHA	1	374	8856	601791
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX16 CL E G H	9409	912				ORPHA	1	346	8857	603360
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX19 CL E G H	5824	912				ORPHA	1	304	9713	600279
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX2 CL E G H	5828	912				ORPHA	1	366	9717	170993
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX26 CL E G H	55670	912				ORPHA	1	431	22965	608666
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX3 CL E G H	8504	912				ORPHA	1	271	8858	603164
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX5 CL E G H	5830	912				ORPHA	1	689	9719	600414
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX6 CL E G H	5190	912				ORPHA	1	1085	8859	601498
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX7 CL E G H	5191	215100	Rhizomelic chondrodysplasia punctata type 1	215100	C1859133	OMIM	1	441	8860	601757
HP:0002093	HP:0002093	Respiratory insufficiency	0	PHOX2B CL E G H	8929	661				ORPHA	1	840	9143	603851
HP:0002093	HP:0002093	Respiratory insufficiency	0	PIP5K1C CL E G H	23396	611369	Lethal congenital contractural syndrome 3	611369	C1969655	OMIM	1	134	8996	606102
HP:0002093	HP:0002093	Respiratory insufficiency	0	PKHD1 CL E G H	5314	731				ORPHA	1	3397	9016	606702
HP:0002093	HP:0002093	Respiratory insufficiency	0	PLAA CL E G H	9373	521426				ORPHA	1	338	9043	603873
HP:0002093	HP:0002093	Respiratory insufficiency	0	PLAA CL E G H	9373	617527	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES	617527	C4479631	OMIM	1	338	9043	603873
HP:0002093	HP:0002093	Respiratory insufficiency	0	PLOD1 CL E G H	5351	225400	Ehlers-Danlos syndrome, hydroxylysine-deficient	225400	C0268342	OMIM	1	794	9081	153454
HP:0002093	HP:0002093	Respiratory insufficiency	0	PLOD2 CL E G H	5352	2771	Hydrocephalus costovertebral dysplasia Sprengel anomaly			ORPHA	1	305	9082	601865
HP:0002093	HP:0002093	Respiratory insufficiency	0	PLPBP CL E G H	11212	617290	Epilepsy, early-onset, vitamin b6-dependent	617290	C4310632	OMIM	1	90	9457	604436
HP:0002093	HP:0002093	Respiratory insufficiency	0	POGLUT1 CL E G H	56983	617232	Muscular dystrophy, limb-girdle, type 2z	617232	C4310660	OMIM	1	111	22954	615618
HP:0002093	HP:0002093	Respiratory insufficiency	0	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	766	19743	607439
HP:0002093	HP:0002093	Respiratory insufficiency	0	PRPS1 CL E G H	5631	1187	Cerebellar agenesis			ORPHA	1	360	9462	311850
HP:0002093	HP:0002093	Respiratory insufficiency	0	PRTN3 CL E G H	5657	900				ORPHA	1	47	9495	177020
HP:0002093	HP:0002093	Respiratory insufficiency	0	PSAP CL E G H	5660	139406				ORPHA	1	598	9498	176801
HP:0002093	HP:0002093	Respiratory insufficiency	0	PSAP CL E G H	5660	611722	Krabbe disease atypical due to Saposin A deficiency	611722	C2673266	OMIM	1	598	9498	176801
HP:0002093	HP:0002093	Respiratory insufficiency	0	PTPN22 CL E G H	26191	900				ORPHA	1	34	9652	600716
HP:0002093	HP:0002093	Respiratory insufficiency	0	PURA CL E G H	5813	616158	Mental retardation, autosomal dominant 31	616158	C4015357	OMIM	1	393	9701	600473
HP:0002093	HP:0002093	Respiratory insufficiency	0	RAPSN CL E G H	5913	994				ORPHA	1	433	9863	601592
HP:0002093	HP:0002093	Respiratory insufficiency	0	RAPSN CL E G H	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	616326	C4225367	OMIM	1	433	9863	601592
HP:0002093	HP:0002093	Respiratory insufficiency	0	REN CL E G H	5972	267430	Renal dysplasia	267430	C3536714	OMIM	1	101	9958	179820
HP:0002093	HP:0002093	Respiratory insufficiency	0	RFT1 CL E G H	91869	612015	Congenital disorder of glycosylation type 1N	612015	C2677590	OMIM	1	399	30220	611908
HP:0002093	HP:0002093	Respiratory insufficiency	0	RIPPLY2 CL E G H	134701	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	69	21390	609891
HP:0002093	HP:0002093	Respiratory insufficiency	0	RMRP CL E G H	6023	175				ORPHA	1	625	10031	157660
HP:0002093	HP:0002093	Respiratory insufficiency	0	RYR1 CL E G H	6261	169186				ORPHA	1	5062	10483	180901
HP:0002093	HP:0002093	Respiratory insufficiency	0	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	5062	10483	180901
HP:0002093	HP:0002093	Respiratory insufficiency	0	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	5062	10483	180901
HP:0002093	HP:0002093	Respiratory insufficiency	0	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2186	10680	600857
HP:0002093	HP:0002093	Respiratory insufficiency	0	SELENON CL E G H	57190	97244				ORPHA	1	537	15999	606210
HP:0002093	HP:0002093	Respiratory insufficiency	0	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	537	15999	606210
HP:0002093	HP:0002093	Respiratory insufficiency	0	SF3B4 CL E G H	10262	245				ORPHA	1	86	10771	605593
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	215	10936	600336
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC25A1 CL E G H	6576	615182	Combined d-2- and l-2-hydroxyglutaric aciduria	615182	C2746066	OMIM	1	505	10979	190315
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC25A20 CL E G H	788	159				ORPHA	1	145	1421	613698
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC25A24 CL E G H	29957	612289	Fontaine progeroid syndrome	612289	C2676780	OMIM	1	83	20662	608744
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC25A3 CL E G H	5250	610773	Mitochondrial phosphate carrier deficiency	610773	C1835845	OMIM	1	114	10989	600370
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC26A2 CL E G H	1836	628				ORPHA	1	549	10994	606718
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC26A2 CL E G H	1836	600972	Achondrogenesis, type IB	600972	C0265274	OMIM	1	549	10994	606718
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC26A2 CL E G H	1836	256050	Atelosteogenesis type 2	256050	C1850554	OMIM	1	549	10994	606718
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC52A2 CL E G H	79581	97229				ORPHA	1	458	30224	607882
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC52A2 CL E G H	79581	614707	Brown-Vialetto-Van Laere syndrome 2	614707	C3553538	OMIM	1	458	30224	607882
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC52A3 CL E G H	113278	97229				ORPHA	1	399	16187	613350
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	399	16187	613350
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC7A7 CL E G H	9056	222700	Lysinuric protein intolerance	222700	C0268647	OMIM	1	528	11065	603593
HP:0002093	HP:0002093	Respiratory insufficiency	0	SMN1 CL E G H	6606	253300	Werdnig-Hoffmann disease	253300	C0043116	OMIM	1	208	11117	600354
HP:0002093	HP:0002093	Respiratory insufficiency	0	SNAP25 CL E G H	6616	616330	Myasthenic syndrome, congenital, 18	616330	C4225364	OMIM	1	191	11132	600322
HP:0002093	HP:0002093	Respiratory insufficiency	0	SOX9 CL E G H	6662	140	Atresia of small intestine			ORPHA	1	280	11204	608160
HP:0002093	HP:0002093	Respiratory insufficiency	0	SPEG CL E G H	10290	169186				ORPHA	1	907	16901	615950
HP:0002093	HP:0002093	Respiratory insufficiency	0	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	907	16901	615950
HP:0002093	HP:0002093	Respiratory insufficiency	0	STRA6 CL E G H	64220	601186	Microphthalmia syndromic 9	601186	C1832661	OMIM	1	262	30650	610745
HP:0002093	HP:0002093	Respiratory insufficiency	0	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	355	11474	185620
HP:0002093	HP:0002093	Respiratory insufficiency	0	SYNE2 CL E G H	23224	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999	C2751805	OMIM	1	2497	17084	608442
HP:0002093	HP:0002093	Respiratory insufficiency	0	TET2 CL E G H	54790	729	Anti-factor 8 autoimmunization			ORPHA	1	115	25941	612839
HP:0002093	HP:0002093	Respiratory insufficiency	0	TMEM231 CL E G H	79583	614970	Joubert syndrome 20	614970	C3554235	OMIM	1	341	37234	614949
HP:0002093	HP:0002093	Respiratory insufficiency	0	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	252	26050	612418
HP:0002093	HP:0002093	Respiratory insufficiency	0	TNNT1 CL E G H	7138	605355	Nemaline myopathy 5	605355	C1854380	OMIM	1	298	11948	191041
HP:0002093	HP:0002093	Respiratory insufficiency	0	TPM2 CL E G H	7169	171436				ORPHA	1	280	12011	190990
HP:0002093	HP:0002093	Respiratory insufficiency	0	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	280	12011	190990
HP:0002093	HP:0002093	Respiratory insufficiency	0	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	300	12012	191030
HP:0002093	HP:0002093	Respiratory insufficiency	0	TPM3 CL E G H	7170	609284	Nemaline myopathy 1	609284	C1836448	OMIM	1	300	12012	191030
HP:0002093	HP:0002093	Respiratory insufficiency	0	TRIM2 CL E G H	23321	615490	Charcot-Marie-Tooth disease, axonal, type 2R	615490	C3809655	OMIM	1	334	15974	614141
HP:0002093	HP:0002093	Respiratory insufficiency	0	TRPV4 CL E G H	59341	181405	Scapuloperoneal spinal muscular atrophy	181405	C0751335	OMIM	1	891	18083	605427
HP:0002093	HP:0002093	Respiratory insufficiency	0	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	302	12367	604723
HP:0002093	HP:0002093	Respiratory insufficiency	0	TTC21B CL E G H	79809	474				ORPHA	1	876	25660	612014
HP:0002093	HP:0002093	Respiratory insufficiency	0	TTN CL E G H	7273	169186				ORPHA	1	22859	12403	188840
HP:0002093	HP:0002093	Respiratory insufficiency	0	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	531	12469	314370
HP:0002093	HP:0002093	Respiratory insufficiency	0	USP18 CL E G H	11274	617397	Pseudo-torch syndrome 2	617397	C4479376	OMIM	1	149	12616	607057
HP:0002093	HP:0002093	Respiratory insufficiency	0	VRK1 CL E G H	7443	607596	Pontocerebellar hypoplasia type 1A	607596	CN032785	OMIM	1	385	12718	602168
HP:0002093	HP:0002093	Respiratory insufficiency	0	WDR19 CL E G H	57728	474				ORPHA	1	749	18340	608151
HP:0002093	HP:0002093	Respiratory insufficiency	0	WDR34 CL E G H	89891	474				ORPHA	1		28296	613363
HP:0002093	HP:0002093	Respiratory insufficiency	0	WDR34 CL E G H	89891	93271				ORPHA	1		28296	613363
HP:0002093	HP:0002093	Respiratory insufficiency	0	WDR34 CL E G H	89891	615633	Short-rib thoracic dysplasia 11 with or without polydactyly	615633	C3810200	OMIM	1		28296	613363
HP:0002093	HP:0002093	Respiratory insufficiency	0	WDR35 CL E G H	57539	93271				ORPHA	1	523	29250	613602
HP:0002093	HP:0002093	Respiratory insufficiency	0	WDR60 CL E G H	55112	93271				ORPHA	1		21862	615462
HP:0002093	HP:0002093	Respiratory insufficiency	0	WDR60 CL E G H	55112	474				ORPHA	1		21862	615462
HP:0002093	HP:0002093	Respiratory insufficiency	0	ZNF148 CL E G H	7707	617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	617260	C4310644	OMIM	1	63	12933	601897
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	ACE CL E G H	1636	267430	Renal dysplasia	267430	C3536714	OMIM	1	324	2707	106180
HP:0002093	HP:0002643	Neonatal respiratory distress	1	ACE CL E G H	1636	267430	Renal dysplasia	267430	C3536714	OMIM	1	324	2707	106180
HP:0002093	HP:0002878	Respiratory failure	1	ACE CL E G H	1636	267430	Renal dysplasia	267430	C3536714	OMIM	1	324	2707	106180
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	ACE CL E G H	1636	267430	Renal dysplasia	267430	C3536714	OMIM	1	324	2707	106180
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	ACE CL E G H	1636	267430	Renal dysplasia	267430	C3536714	OMIM	1	324	2707	106180
HP:0002093	HP:0004878	Intercostal muscle weakness	1	ACE CL E G H	1636	267430	Renal dysplasia	267430	C3536714	OMIM	1	324	2707	106180
HP:0002093	HP:0005943	Respiratory arrest	1	ACE CL E G H	1636	267430	Renal dysplasia	267430	C3536714	OMIM	1	324	2707	106180
HP:0002093	HP:0004878	Intercostal muscle weakness	1	ACOX1 CL E G H	51	2971				ORPHA	1	517	119	609751
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	ACOX1 CL E G H	51	2971				ORPHA	1	517	119	609751
HP:0002093	HP:0005943	Respiratory arrest	1	ACOX1 CL E G H	51	2971				ORPHA	1	517	119	609751
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	ACOX1 CL E G H	51	2971				ORPHA	1	517	119	609751
HP:0002093	HP:0002878	Respiratory failure	1	ACOX1 CL E G H	51	2971				ORPHA	1	517	119	609751
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	ACOX1 CL E G H	51	2971				ORPHA	1	517	119	609751
HP:0002093	HP:0002643	Neonatal respiratory distress	1	ACOX1 CL E G H	51	2971				ORPHA	1	517	119	609751
HP:0002093	HP:0002878	Respiratory failure	1	ACTA1 CL E G H	58	97244				ORPHA	1	392	129	102610
HP:0002093	HP:0005943	Respiratory arrest	1	ACTA1 CL E G H	58	171436				ORPHA	1	392	129	102610
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	ACTA1 CL E G H	58	97244				ORPHA	1	392	129	102610
HP:0002093	HP:0002643	Neonatal respiratory distress	1	ACTA1 CL E G H	58	97244				ORPHA	1	392	129	102610
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	ACTA1 CL E G H	58	171436				ORPHA	1	392	129	102610
HP:0002093	HP:0004878	Intercostal muscle weakness	1	ACTA1 CL E G H	58	97244				ORPHA	1	392	129	102610
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	ACTA1 CL E G H	58	97244				ORPHA	1	392	129	102610
HP:0002093	HP:0002643	Neonatal respiratory distress	1	ACTA1 CL E G H	58	171436				ORPHA	1	392	129	102610
HP:0002093	HP:0002878	Respiratory failure	1	ACTA1 CL E G H	58	171436				ORPHA	1	392	129	102610
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	ACTA1 CL E G H	58	171436				ORPHA	1	392	129	102610
HP:0002093	HP:0005943	Respiratory arrest	1	ACTA1 CL E G H	58	97244				ORPHA	1	392	129	102610
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	ACTA1 CL E G H	58	171436				ORPHA	1	392	129	102610
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	ACTA1 CL E G H	58	97244				ORPHA	1	392	129	102610
HP:0002093	HP:0004878	Intercostal muscle weakness	1	ACTA1 CL E G H	58	171436				ORPHA	1	392	129	102610
HP:0002093	HP:0005943	Respiratory arrest	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	392	129	102610
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	392	129	102610
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	392	129	102610
HP:0002093	HP:0002643	Neonatal respiratory distress	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	392	129	102610
HP:0002093	HP:0002878	Respiratory failure	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	392	129	102610
HP:0002093	HP:0004878	Intercostal muscle weakness	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	392	129	102610
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	392	129	102610
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	ACVR1 CL E G H	90	337				ORPHA	1	169	171	102576
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	ACVR1 CL E G H	90	337				ORPHA	1	169	171	102576
HP:0002093	HP:0002643	Neonatal respiratory distress	1	ACVR1 CL E G H	90	337				ORPHA	1	169	171	102576
HP:0002093	HP:0002878	Respiratory failure	1	ACVR1 CL E G H	90	337				ORPHA	1	169	171	102576
HP:0002093	HP:0004878	Intercostal muscle weakness	1	ACVR1 CL E G H	90	337				ORPHA	1	169	171	102576
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	ACVR1 CL E G H	90	337				ORPHA	1	169	171	102576
HP:0002093	HP:0005943	Respiratory arrest	1	ACVR1 CL E G H	90	337				ORPHA	1	169	171	102576
HP:0002093	HP:0005943	Respiratory arrest	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	242	21869	610345
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	242	21869	610345
HP:0002093	HP:0002878	Respiratory failure	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	242	21869	610345
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	242	21869	610345
HP:0002093	HP:0002643	Neonatal respiratory distress	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	242	21869	610345
HP:0002093	HP:0004878	Intercostal muscle weakness	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	242	21869	610345
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	242	21869	610345
HP:0002093	HP:0004878	Intercostal muscle weakness	1	AGT CL E G H	183	267430	Renal dysplasia	267430	C3536714	OMIM	1	161	333	106150
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	AGT CL E G H	183	267430	Renal dysplasia	267430	C3536714	OMIM	1	161	333	106150
HP:0002093	HP:0005943	Respiratory arrest	1	AGT CL E G H	183	267430	Renal dysplasia	267430	C3536714	OMIM	1	161	333	106150
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	AGT CL E G H	183	267430	Renal dysplasia	267430	C3536714	OMIM	1	161	333	106150
HP:0002093	HP:0002878	Respiratory failure	1	AGT CL E G H	183	267430	Renal dysplasia	267430	C3536714	OMIM	1	161	333	106150
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	AGT CL E G H	183	267430	Renal dysplasia	267430	C3536714	OMIM	1	161	333	106150
HP:0002093	HP:0002643	Neonatal respiratory distress	1	AGT CL E G H	183	267430	Renal dysplasia	267430	C3536714	OMIM	1	161	333	106150
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	AGTR1 CL E G H	185	267430	Renal dysplasia	267430	C3536714	OMIM	1	107	336	106165
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	AGTR1 CL E G H	185	267430	Renal dysplasia	267430	C3536714	OMIM	1	107	336	106165
HP:0002093	HP:0002643	Neonatal respiratory distress	1	AGTR1 CL E G H	185	267430	Renal dysplasia	267430	C3536714	OMIM	1	107	336	106165
HP:0002093	HP:0002878	Respiratory failure	1	AGTR1 CL E G H	185	267430	Renal dysplasia	267430	C3536714	OMIM	1	107	336	106165
HP:0002093	HP:0004878	Intercostal muscle weakness	1	AGTR1 CL E G H	185	267430	Renal dysplasia	267430	C3536714	OMIM	1	107	336	106165
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	AGTR1 CL E G H	185	267430	Renal dysplasia	267430	C3536714	OMIM	1	107	336	106165
HP:0002093	HP:0005943	Respiratory arrest	1	AGTR1 CL E G H	185	267430	Renal dysplasia	267430	C3536714	OMIM	1	107	336	106165
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	AIFM1 CL E G H	9131	238329				ORPHA	1	487	8768	300169
HP:0002093	HP:0002643	Neonatal respiratory distress	1	AIFM1 CL E G H	9131	238329				ORPHA	1	487	8768	300169
HP:0002093	HP:0002878	Respiratory failure	1	AIFM1 CL E G H	9131	238329				ORPHA	1	487	8768	300169
HP:0002093	HP:0004878	Intercostal muscle weakness	1	AIFM1 CL E G H	9131	238329				ORPHA	1	487	8768	300169
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	AIFM1 CL E G H	9131	238329				ORPHA	1	487	8768	300169
HP:0002093	HP:0005943	Respiratory arrest	1	AIFM1 CL E G H	9131	238329				ORPHA	1	487	8768	300169
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	AIFM1 CL E G H	9131	238329				ORPHA	1	487	8768	300169
HP:0002093	HP:0002643	Neonatal respiratory distress	1	ALMS1 CL E G H	7840	64				ORPHA	1	4321	428	606844
HP:0002093	HP:0002878	Respiratory failure	1	ALMS1 CL E G H	7840	64				ORPHA	1	4321	428	606844
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	ALMS1 CL E G H	7840	64				ORPHA	1	4321	428	606844
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	ALMS1 CL E G H	7840	64				ORPHA	1	4321	428	606844
HP:0002093	HP:0004878	Intercostal muscle weakness	1	ALMS1 CL E G H	7840	64				ORPHA	1	4321	428	606844
HP:0002093	HP:0005943	Respiratory arrest	1	ALMS1 CL E G H	7840	64				ORPHA	1	4321	428	606844
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	ALMS1 CL E G H	7840	64				ORPHA	1	4321	428	606844
HP:0002093	HP:0004878	Intercostal muscle weakness	1	ASAH1 CL E G H	427	333				ORPHA	1	712	735	613468
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	ASAH1 CL E G H	427	333				ORPHA	1	712	735	613468
HP:0002093	HP:0005943	Respiratory arrest	1	ASAH1 CL E G H	427	333				ORPHA	1	712	735	613468
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	ASAH1 CL E G H	427	333				ORPHA	1	712	735	613468
HP:0002093	HP:0002878	Respiratory failure	1	ASAH1 CL E G H	427	333				ORPHA	1	712	735	613468
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	ASAH1 CL E G H	427	333				ORPHA	1	712	735	613468
HP:0002093	HP:0002643	Neonatal respiratory distress	1	ASAH1 CL E G H	427	333				ORPHA	1	712	735	613468
HP:0002093	HP:0005943	Respiratory arrest	1	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	712	735	613468
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	712	735	613468
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	712	735	613468
HP:0002093	HP:0002643	Neonatal respiratory distress	1	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	712	735	613468
HP:0002093	HP:0002878	Respiratory failure	1	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	712	735	613468
HP:0002093	HP:0004878	Intercostal muscle weakness	1	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	712	735	613468
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	712	735	613468
HP:0002093	HP:0005943	Respiratory arrest	1	ASNS CL E G H	440	615574	Asparagine synthetase deficiency	615574	C3809971	OMIM	1	432	753	108370
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	ASNS CL E G H	440	615574	Asparagine synthetase deficiency	615574	C3809971	OMIM	1	432	753	108370
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	ASNS CL E G H	440	615574	Asparagine synthetase deficiency	615574	C3809971	OMIM	1	432	753	108370
HP:0002093	HP:0002643	Neonatal respiratory distress	1	ASNS CL E G H	440	615574	Asparagine synthetase deficiency	615574	C3809971	OMIM	1	432	753	108370
HP:0002093	HP:0002878	Respiratory failure	1	ASNS CL E G H	440	615574	Asparagine synthetase deficiency	615574	C3809971	OMIM	1	432	753	108370
HP:0002093	HP:0004878	Intercostal muscle weakness	1	ASNS CL E G H	440	615574	Asparagine synthetase deficiency	615574	C3809971	OMIM	1	432	753	108370
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	ASNS CL E G H	440	615574	Asparagine synthetase deficiency	615574	C3809971	OMIM	1	432	753	108370
HP:0002093	HP:0005943	Respiratory arrest	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	856	939	603883
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	856	939	603883
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	856	939	603883
HP:0002093	HP:0002643	Neonatal respiratory distress	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	856	939	603883
HP:0002093	HP:0002878	Respiratory failure	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	856	939	603883
HP:0002093	HP:0004878	Intercostal muscle weakness	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	856	939	603883
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	856	939	603883
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	334	1020	603647
HP:0002093	HP:0002643	Neonatal respiratory distress	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	334	1020	603647
HP:0002093	HP:0002878	Respiratory failure	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	334	1020	603647
HP:0002093	HP:0004878	Intercostal muscle weakness	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	334	1020	603647
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	334	1020	603647
HP:0002093	HP:0005943	Respiratory arrest	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	334	1020	603647
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	334	1020	603647
HP:0002093	HP:0005943	Respiratory arrest	1	BDNF CL E G H	627	661				ORPHA	1	57	1033	113505
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	BDNF CL E G H	627	661				ORPHA	1	57	1033	113505
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	BDNF CL E G H	627	661				ORPHA	1	57	1033	113505
HP:0002093	HP:0002643	Neonatal respiratory distress	1	BDNF CL E G H	627	661				ORPHA	1	57	1033	113505
HP:0002093	HP:0002878	Respiratory failure	1	BDNF CL E G H	627	661				ORPHA	1	57	1033	113505
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	BDNF CL E G H	627	661				ORPHA	1	57	1033	113505
HP:0002093	HP:0004878	Intercostal muscle weakness	1	BDNF CL E G H	627	661				ORPHA	1	57	1033	113505
HP:0002093	HP:0005943	Respiratory arrest	1	BIN1 CL E G H	274	169186				ORPHA	1	552	1052	601248
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	BIN1 CL E G H	274	169186				ORPHA	1	552	1052	601248
HP:0002093	HP:0002643	Neonatal respiratory distress	1	BIN1 CL E G H	274	169186				ORPHA	1	552	1052	601248
HP:0002093	HP:0002878	Respiratory failure	1	BIN1 CL E G H	274	169186				ORPHA	1	552	1052	601248
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	BIN1 CL E G H	274	169186				ORPHA	1	552	1052	601248
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	BIN1 CL E G H	274	169186				ORPHA	1	552	1052	601248
HP:0002093	HP:0004878	Intercostal muscle weakness	1	BIN1 CL E G H	274	169186				ORPHA	1	552	1052	601248
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	244	24154	608699
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	244	24154	608699
HP:0002093	HP:0002643	Neonatal respiratory distress	1	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	244	24154	608699
HP:0002093	HP:0002878	Respiratory failure	1	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	244	24154	608699
HP:0002093	HP:0004878	Intercostal muscle weakness	1	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	244	24154	608699
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	244	24154	608699
HP:0002093	HP:0005943	Respiratory arrest	1	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	244	24154	608699
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CEP120 CL E G H	153241	474				ORPHA	1	305	26690	613446
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CEP120 CL E G H	153241	474				ORPHA	1	305	26690	613446
HP:0002093	HP:0002878	Respiratory failure	1	CEP120 CL E G H	153241	474				ORPHA	1	305	26690	613446
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CEP120 CL E G H	153241	474				ORPHA	1	305	26690	613446
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CEP120 CL E G H	153241	474				ORPHA	1	305	26690	613446
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CEP120 CL E G H	153241	474				ORPHA	1	305	26690	613446
HP:0002093	HP:0005943	Respiratory arrest	1	CEP120 CL E G H	153241	474				ORPHA	1	305	26690	613446
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CEP120 CL E G H	153241	616300	Short-rib thoracic dysplasia 13 with or without polydactyly	616300	C4225378	OMIM	1	305	26690	613446
HP:0002093	HP:0002878	Respiratory failure	1	CEP120 CL E G H	153241	616300	Short-rib thoracic dysplasia 13 with or without polydactyly	616300	C4225378	OMIM	1	305	26690	613446
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CEP120 CL E G H	153241	616300	Short-rib thoracic dysplasia 13 with or without polydactyly	616300	C4225378	OMIM	1	305	26690	613446
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CEP120 CL E G H	153241	616300	Short-rib thoracic dysplasia 13 with or without polydactyly	616300	C4225378	OMIM	1	305	26690	613446
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CEP120 CL E G H	153241	616300	Short-rib thoracic dysplasia 13 with or without polydactyly	616300	C4225378	OMIM	1	305	26690	613446
HP:0002093	HP:0005943	Respiratory arrest	1	CEP120 CL E G H	153241	616300	Short-rib thoracic dysplasia 13 with or without polydactyly	616300	C4225378	OMIM	1	305	26690	613446
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CEP120 CL E G H	153241	616300	Short-rib thoracic dysplasia 13 with or without polydactyly	616300	C4225378	OMIM	1	305	26690	613446
HP:0002093	HP:0002878	Respiratory failure	1	CFL2 CL E G H	1073	171436				ORPHA	1	147	1875	601443
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CFL2 CL E G H	1073	171436				ORPHA	1	147	1875	601443
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CFL2 CL E G H	1073	171436				ORPHA	1	147	1875	601443
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CFL2 CL E G H	1073	171436				ORPHA	1	147	1875	601443
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CFL2 CL E G H	1073	171436				ORPHA	1	147	1875	601443
HP:0002093	HP:0005943	Respiratory arrest	1	CFL2 CL E G H	1073	171436				ORPHA	1	147	1875	601443
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CFL2 CL E G H	1073	171436				ORPHA	1	147	1875	601443
HP:0002093	HP:0005943	Respiratory arrest	1	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	357	1961	100710
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	357	1961	100710
HP:0002093	HP:0002878	Respiratory failure	1	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	357	1961	100710
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	357	1961	100710
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	357	1961	100710
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	357	1961	100710
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	357	1961	100710
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	408	1965	100720
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	408	1965	100720
HP:0002093	HP:0002878	Respiratory failure	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	408	1965	100720
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	408	1965	100720
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	408	1965	100720
HP:0002093	HP:0005943	Respiratory arrest	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	408	1965	100720
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	408	1965	100720
HP:0002093	HP:0005943	Respiratory arrest	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	408	1965	100720
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	408	1965	100720
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	408	1965	100720
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	408	1965	100720
HP:0002093	HP:0002878	Respiratory failure	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	408	1965	100720
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	408	1965	100720
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	408	1965	100720
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	408	1965	100720
HP:0002093	HP:0002878	Respiratory failure	1	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	408	1965	100720
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	408	1965	100720
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	408	1965	100720
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	408	1965	100720
HP:0002093	HP:0005943	Respiratory arrest	1	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	408	1965	100720
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	408	1965	100720
HP:0002093	HP:0005943	Respiratory arrest	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	795	1966	100725
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	795	1966	100725
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	795	1966	100725
HP:0002093	HP:0002878	Respiratory failure	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	795	1966	100725
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	795	1966	100725
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	795	1966	100725
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	795	1966	100725
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CLCF1 CL E G H	23529	1545	Corsello Opitz syndrome			ORPHA	1	33	17412	607672
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CLCF1 CL E G H	23529	1545	Corsello Opitz syndrome			ORPHA	1	33	17412	607672
HP:0002093	HP:0005943	Respiratory arrest	1	CLCF1 CL E G H	23529	1545	Corsello Opitz syndrome			ORPHA	1	33	17412	607672
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CLCF1 CL E G H	23529	1545	Corsello Opitz syndrome			ORPHA	1	33	17412	607672
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CLCF1 CL E G H	23529	1545	Corsello Opitz syndrome			ORPHA	1	33	17412	607672
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CLCF1 CL E G H	23529	1545	Corsello Opitz syndrome			ORPHA	1	33	17412	607672
HP:0002093	HP:0002878	Respiratory failure	1	CLCF1 CL E G H	23529	1545	Corsello Opitz syndrome			ORPHA	1	33	17412	607672
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0002093	HP:0002878	Respiratory failure	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0002093	HP:0005943	Respiratory arrest	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	COL11A1 CL E G H	1301	2021				ORPHA	1	1671	2186	120280
HP:0002093	HP:0002643	Neonatal respiratory distress	1	COL11A1 CL E G H	1301	2021				ORPHA	1	1671	2186	120280
HP:0002093	HP:0002878	Respiratory failure	1	COL11A1 CL E G H	1301	2021				ORPHA	1	1671	2186	120280
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	COL11A1 CL E G H	1301	2021				ORPHA	1	1671	2186	120280
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	COL11A1 CL E G H	1301	2021				ORPHA	1	1671	2186	120280
HP:0002093	HP:0004878	Intercostal muscle weakness	1	COL11A1 CL E G H	1301	2021				ORPHA	1	1671	2186	120280
HP:0002093	HP:0005943	Respiratory arrest	1	COL11A1 CL E G H	1301	2021				ORPHA	1	1671	2186	120280
HP:0002093	HP:0004878	Intercostal muscle weakness	1	COL11A2 CL E G H	1302	2021				ORPHA	1	1240	2187	120290
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	COL11A2 CL E G H	1302	2021				ORPHA	1	1240	2187	120290
HP:0002093	HP:0005943	Respiratory arrest	1	COL11A2 CL E G H	1302	2021				ORPHA	1	1240	2187	120290
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	COL11A2 CL E G H	1302	2021				ORPHA	1	1240	2187	120290
HP:0002093	HP:0002878	Respiratory failure	1	COL11A2 CL E G H	1302	2021				ORPHA	1	1240	2187	120290
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	COL11A2 CL E G H	1302	2021				ORPHA	1	1240	2187	120290
HP:0002093	HP:0002643	Neonatal respiratory distress	1	COL11A2 CL E G H	1302	2021				ORPHA	1	1240	2187	120290
HP:0002093	HP:0005943	Respiratory arrest	1	COL12A1 CL E G H	1303	616470	Ullrich congenital muscular dystrophy 2	616470	C4225314	OMIM	1	1944	2188	120320
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	COL12A1 CL E G H	1303	616470	Ullrich congenital muscular dystrophy 2	616470	C4225314	OMIM	1	1944	2188	120320
HP:0002093	HP:0002878	Respiratory failure	1	COL12A1 CL E G H	1303	616470	Ullrich congenital muscular dystrophy 2	616470	C4225314	OMIM	1	1944	2188	120320
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	COL12A1 CL E G H	1303	616470	Ullrich congenital muscular dystrophy 2	616470	C4225314	OMIM	1	1944	2188	120320
HP:0002093	HP:0002643	Neonatal respiratory distress	1	COL12A1 CL E G H	1303	616470	Ullrich congenital muscular dystrophy 2	616470	C4225314	OMIM	1	1944	2188	120320
HP:0002093	HP:0004878	Intercostal muscle weakness	1	COL12A1 CL E G H	1303	616470	Ullrich congenital muscular dystrophy 2	616470	C4225314	OMIM	1	1944	2188	120320
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	COL12A1 CL E G H	1303	616470	Ullrich congenital muscular dystrophy 2	616470	C4225314	OMIM	1	1944	2188	120320
HP:0002093	HP:0005943	Respiratory arrest	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	397	2190	120350
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	397	2190	120350
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	397	2190	120350
HP:0002093	HP:0002643	Neonatal respiratory distress	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	397	2190	120350
HP:0002093	HP:0002878	Respiratory failure	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	397	2190	120350
HP:0002093	HP:0004878	Intercostal muscle weakness	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	397	2190	120350
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	397	2190	120350
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	COL1A1 CL E G H	1277	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	2016	2197	120150
HP:0002093	HP:0002643	Neonatal respiratory distress	1	COL1A1 CL E G H	1277	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	2016	2197	120150
HP:0002093	HP:0002878	Respiratory failure	1	COL1A1 CL E G H	1277	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	2016	2197	120150
HP:0002093	HP:0004878	Intercostal muscle weakness	1	COL1A1 CL E G H	1277	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	2016	2197	120150
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	COL1A1 CL E G H	1277	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	2016	2197	120150
HP:0002093	HP:0005943	Respiratory arrest	1	COL1A1 CL E G H	1277	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	2016	2197	120150
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	COL1A1 CL E G H	1277	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	2016	2197	120150
HP:0002093	HP:0005943	Respiratory arrest	1	COL1A2 CL E G H	1278	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	1458	2198	120160
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	COL1A2 CL E G H	1278	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	1458	2198	120160
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	COL1A2 CL E G H	1278	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	1458	2198	120160
HP:0002093	HP:0002643	Neonatal respiratory distress	1	COL1A2 CL E G H	1278	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	1458	2198	120160
HP:0002093	HP:0002878	Respiratory failure	1	COL1A2 CL E G H	1278	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	1458	2198	120160
HP:0002093	HP:0004878	Intercostal muscle weakness	1	COL1A2 CL E G H	1278	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	1458	2198	120160
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	COL1A2 CL E G H	1278	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	1458	2198	120160
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	1	2274	2201	120180
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	1	2274	2201	120180
HP:0002093	HP:0002643	Neonatal respiratory distress	1	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	1	2274	2201	120180
HP:0002093	HP:0002878	Respiratory failure	1	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	1	2274	2201	120180
HP:0002093	HP:0004878	Intercostal muscle weakness	1	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	1	2274	2201	120180
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	1	2274	2201	120180
HP:0002093	HP:0005943	Respiratory arrest	1	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	1	2274	2201	120180
HP:0002093	HP:0004878	Intercostal muscle weakness	1	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	1	2531	2209	120215
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	1	2531	2209	120215
HP:0002093	HP:0005943	Respiratory arrest	1	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	1	2531	2209	120215
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	1	2531	2209	120215
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	1	2531	2209	120215
HP:0002093	HP:0002643	Neonatal respiratory distress	1	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	1	2531	2209	120215
HP:0002093	HP:0002878	Respiratory failure	1	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	1	2531	2209	120215
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	465	2226	603033
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	465	2226	603033
HP:0002093	HP:0002643	Neonatal respiratory distress	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	465	2226	603033
HP:0002093	HP:0002878	Respiratory failure	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	465	2226	603033
HP:0002093	HP:0004878	Intercostal muscle weakness	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	465	2226	603033
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	465	2226	603033
HP:0002093	HP:0005943	Respiratory arrest	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	465	2226	603033
HP:0002093	HP:0005943	Respiratory arrest	1	COQ4 CL E G H	51117	616276	Coenzyme Q10 deficiency, primary, 7	616276	C4225392	OMIM	1	209	19693	612898
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	COQ4 CL E G H	51117	616276	Coenzyme Q10 deficiency, primary, 7	616276	C4225392	OMIM	1	209	19693	612898
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	COQ4 CL E G H	51117	616276	Coenzyme Q10 deficiency, primary, 7	616276	C4225392	OMIM	1	209	19693	612898
HP:0002093	HP:0002643	Neonatal respiratory distress	1	COQ4 CL E G H	51117	616276	Coenzyme Q10 deficiency, primary, 7	616276	C4225392	OMIM	1	209	19693	612898
HP:0002093	HP:0002878	Respiratory failure	1	COQ4 CL E G H	51117	616276	Coenzyme Q10 deficiency, primary, 7	616276	C4225392	OMIM	1	209	19693	612898
HP:0002093	HP:0004878	Intercostal muscle weakness	1	COQ4 CL E G H	51117	616276	Coenzyme Q10 deficiency, primary, 7	616276	C4225392	OMIM	1	209	19693	612898
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	COQ4 CL E G H	51117	616276	Coenzyme Q10 deficiency, primary, 7	616276	C4225392	OMIM	1	209	19693	612898
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	COQ9 CL E G H	57017	614654	Coenzyme Q10 deficiency, primary, 5	614654	C3553374	OMIM	1	183	25302	612837
HP:0002093	HP:0002643	Neonatal respiratory distress	1	COQ9 CL E G H	57017	614654	Coenzyme Q10 deficiency, primary, 5	614654	C3553374	OMIM	1	183	25302	612837
HP:0002093	HP:0002878	Respiratory failure	1	COQ9 CL E G H	57017	614654	Coenzyme Q10 deficiency, primary, 5	614654	C3553374	OMIM	1	183	25302	612837
HP:0002093	HP:0004878	Intercostal muscle weakness	1	COQ9 CL E G H	57017	614654	Coenzyme Q10 deficiency, primary, 5	614654	C3553374	OMIM	1	183	25302	612837
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	COQ9 CL E G H	57017	614654	Coenzyme Q10 deficiency, primary, 5	614654	C3553374	OMIM	1	183	25302	612837
HP:0002093	HP:0005943	Respiratory arrest	1	COQ9 CL E G H	57017	614654	Coenzyme Q10 deficiency, primary, 5	614654	C3553374	OMIM	1	183	25302	612837
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	COQ9 CL E G H	57017	614654	Coenzyme Q10 deficiency, primary, 5	614654	C3553374	OMIM	1	183	25302	612837
HP:0002093	HP:0005943	Respiratory arrest	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	293	2260	602125
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	293	2260	602125
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	293	2260	602125
HP:0002093	HP:0002643	Neonatal respiratory distress	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	293	2260	602125
HP:0002093	HP:0002878	Respiratory failure	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	293	2260	602125
HP:0002093	HP:0004878	Intercostal muscle weakness	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	293	2260	602125
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	293	2260	602125
HP:0002093	HP:0002643	Neonatal respiratory distress	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	251	2263	603646
HP:0002093	HP:0002878	Respiratory failure	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	251	2263	603646
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	251	2263	603646
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	251	2263	603646
HP:0002093	HP:0004878	Intercostal muscle weakness	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	251	2263	603646
HP:0002093	HP:0005943	Respiratory arrest	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	251	2263	603646
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	251	2263	603646
HP:0002093	HP:0005943	Respiratory arrest	1	CPS1 CL E G H	1373	147				ORPHA	1	1152	2323	608307
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CPS1 CL E G H	1373	147				ORPHA	1	1152	2323	608307
HP:0002093	HP:0002878	Respiratory failure	1	CPS1 CL E G H	1373	147				ORPHA	1	1152	2323	608307
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CPS1 CL E G H	1373	147				ORPHA	1	1152	2323	608307
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CPS1 CL E G H	1373	147				ORPHA	1	1152	2323	608307
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CPS1 CL E G H	1373	147				ORPHA	1	1152	2323	608307
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CPS1 CL E G H	1373	147				ORPHA	1	1152	2323	608307
HP:0002093	HP:0005943	Respiratory arrest	1	CPT2 CL E G H	1376	228308				ORPHA	1	720	2330	600650
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CPT2 CL E G H	1376	228308				ORPHA	1	720	2330	600650
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CPT2 CL E G H	1376	228308				ORPHA	1	720	2330	600650
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CPT2 CL E G H	1376	228308				ORPHA	1	720	2330	600650
HP:0002093	HP:0002878	Respiratory failure	1	CPT2 CL E G H	1376	228308				ORPHA	1	720	2330	600650
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CPT2 CL E G H	1376	228308				ORPHA	1	720	2330	600650
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CPT2 CL E G H	1376	228308				ORPHA	1	720	2330	600650
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	720	2330	600650
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	720	2330	600650
HP:0002093	HP:0002878	Respiratory failure	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	720	2330	600650
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	720	2330	600650
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	720	2330	600650
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	720	2330	600650
HP:0002093	HP:0005943	Respiratory arrest	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	720	2330	600650
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CRLF1 CL E G H	9244	1545	Corsello Opitz syndrome			ORPHA	1	80	2364	604237
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CRLF1 CL E G H	9244	1545	Corsello Opitz syndrome			ORPHA	1	80	2364	604237
HP:0002093	HP:0002878	Respiratory failure	1	CRLF1 CL E G H	9244	1545	Corsello Opitz syndrome			ORPHA	1	80	2364	604237
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CRLF1 CL E G H	9244	1545	Corsello Opitz syndrome			ORPHA	1	80	2364	604237
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CRLF1 CL E G H	9244	1545	Corsello Opitz syndrome			ORPHA	1	80	2364	604237
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CRLF1 CL E G H	9244	1545	Corsello Opitz syndrome			ORPHA	1	80	2364	604237
HP:0002093	HP:0005943	Respiratory arrest	1	CRLF1 CL E G H	9244	1545	Corsello Opitz syndrome			ORPHA	1	80	2364	604237
HP:0002093	HP:0005943	Respiratory arrest	1	CSF2RB CL E G H	1439	614370	Surfactant metabolism dysfunction, pulmonary, 5	614370	C3280574	OMIM	1	361	2436	138981
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CSF2RB CL E G H	1439	614370	Surfactant metabolism dysfunction, pulmonary, 5	614370	C3280574	OMIM	1	361	2436	138981
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CSF2RB CL E G H	1439	614370	Surfactant metabolism dysfunction, pulmonary, 5	614370	C3280574	OMIM	1	361	2436	138981
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CSF2RB CL E G H	1439	614370	Surfactant metabolism dysfunction, pulmonary, 5	614370	C3280574	OMIM	1	361	2436	138981
HP:0002093	HP:0002878	Respiratory failure	1	CSF2RB CL E G H	1439	614370	Surfactant metabolism dysfunction, pulmonary, 5	614370	C3280574	OMIM	1	361	2436	138981
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CSF2RB CL E G H	1439	614370	Surfactant metabolism dysfunction, pulmonary, 5	614370	C3280574	OMIM	1	361	2436	138981
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CSF2RB CL E G H	1439	614370	Surfactant metabolism dysfunction, pulmonary, 5	614370	C3280574	OMIM	1	361	2436	138981
HP:0002093	HP:0005943	Respiratory arrest	1	CTLA4 CL E G H	1493	900				ORPHA	1	190	2505	123890
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CTLA4 CL E G H	1493	900				ORPHA	1	190	2505	123890
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CTLA4 CL E G H	1493	900				ORPHA	1	190	2505	123890
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CTLA4 CL E G H	1493	900				ORPHA	1	190	2505	123890
HP:0002093	HP:0002878	Respiratory failure	1	CTLA4 CL E G H	1493	900				ORPHA	1	190	2505	123890
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CTLA4 CL E G H	1493	900				ORPHA	1	190	2505	123890
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CTLA4 CL E G H	1493	900				ORPHA	1	190	2505	123890
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	527	2529	116840
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	527	2529	116840
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	527	2529	116840
HP:0002093	HP:0002878	Respiratory failure	1	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	527	2529	116840
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	527	2529	116840
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	527	2529	116840
HP:0002093	HP:0005943	Respiratory arrest	1	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	527	2529	116840
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	751	2605	606530
HP:0002093	HP:0002643	Neonatal respiratory distress	1	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	751	2605	606530
HP:0002093	HP:0002878	Respiratory failure	1	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	751	2605	606530
HP:0002093	HP:0004878	Intercostal muscle weakness	1	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	751	2605	606530
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	751	2605	606530
HP:0002093	HP:0005943	Respiratory arrest	1	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	751	2605	606530
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	751	2605	606530
HP:0002093	HP:0002643	Neonatal respiratory distress	1	DCTN1 CL E G H	1639	168605	Perry syndrome	168605	C1868594	OMIM	1	858	2711	601143
HP:0002093	HP:0002878	Respiratory failure	1	DCTN1 CL E G H	1639	168605	Perry syndrome	168605	C1868594	OMIM	1	858	2711	601143
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	DCTN1 CL E G H	1639	168605	Perry syndrome	168605	C1868594	OMIM	1	858	2711	601143
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	DCTN1 CL E G H	1639	168605	Perry syndrome	168605	C1868594	OMIM	1	858	2711	601143
HP:0002093	HP:0004878	Intercostal muscle weakness	1	DCTN1 CL E G H	1639	168605	Perry syndrome	168605	C1868594	OMIM	1	858	2711	601143
HP:0002093	HP:0005943	Respiratory arrest	1	DCTN1 CL E G H	1639	168605	Perry syndrome	168605	C1868594	OMIM	1	858	2711	601143
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	DCTN1 CL E G H	1639	168605	Perry syndrome	168605	C1868594	OMIM	1	858	2711	601143
HP:0002093	HP:0004878	Intercostal muscle weakness	1	DLL3 CL E G H	10683	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	248	2909	602768
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	DLL3 CL E G H	10683	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	248	2909	602768
HP:0002093	HP:0005943	Respiratory arrest	1	DLL3 CL E G H	10683	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	248	2909	602768
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	DLL3 CL E G H	10683	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	248	2909	602768
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	DLL3 CL E G H	10683	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	248	2909	602768
HP:0002093	HP:0002643	Neonatal respiratory distress	1	DLL3 CL E G H	10683	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	248	2909	602768
HP:0002093	HP:0002878	Respiratory failure	1	DLL3 CL E G H	10683	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	248	2909	602768
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	DMD CL E G H	1756	98896				ORPHA	1	7370	2928	300377
HP:0002093	HP:0002643	Neonatal respiratory distress	1	DMD CL E G H	1756	98896				ORPHA	1	7370	2928	300377
HP:0002093	HP:0002878	Respiratory failure	1	DMD CL E G H	1756	98896				ORPHA	1	7370	2928	300377
HP:0002093	HP:0004878	Intercostal muscle weakness	1	DMD CL E G H	1756	98896				ORPHA	1	7370	2928	300377
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	DMD CL E G H	1756	98896				ORPHA	1	7370	2928	300377
HP:0002093	HP:0005943	Respiratory arrest	1	DMD CL E G H	1756	98896				ORPHA	1	7370	2928	300377
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	DMD CL E G H	1756	98896				ORPHA	1	7370	2928	300377
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	7370	2928	300377
HP:0002093	HP:0002643	Neonatal respiratory distress	1	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	7370	2928	300377
HP:0002093	HP:0002878	Respiratory failure	1	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	7370	2928	300377
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	7370	2928	300377
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	7370	2928	300377
HP:0002093	HP:0004878	Intercostal muscle weakness	1	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	7370	2928	300377
HP:0002093	HP:0005943	Respiratory arrest	1	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	7370	2928	300377
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	DNM2 CL E G H	1785	615368	Lethal congenital contracture syndrome 5	615368	C3809272	OMIM	1	885	2974	602378
HP:0002093	HP:0002643	Neonatal respiratory distress	1	DNM2 CL E G H	1785	615368	Lethal congenital contracture syndrome 5	615368	C3809272	OMIM	1	885	2974	602378
HP:0002093	HP:0002878	Respiratory failure	1	DNM2 CL E G H	1785	615368	Lethal congenital contracture syndrome 5	615368	C3809272	OMIM	1	885	2974	602378
HP:0002093	HP:0004878	Intercostal muscle weakness	1	DNM2 CL E G H	1785	615368	Lethal congenital contracture syndrome 5	615368	C3809272	OMIM	1	885	2974	602378
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	DNM2 CL E G H	1785	615368	Lethal congenital contracture syndrome 5	615368	C3809272	OMIM	1	885	2974	602378
HP:0002093	HP:0005943	Respiratory arrest	1	DNM2 CL E G H	1785	615368	Lethal congenital contracture syndrome 5	615368	C3809272	OMIM	1	885	2974	602378
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	DNM2 CL E G H	1785	615368	Lethal congenital contracture syndrome 5	615368	C3809272	OMIM	1	885	2974	602378
HP:0002093	HP:0004878	Intercostal muscle weakness	1	DOK7 CL E G H	285489	994				ORPHA	1	840	26594	610285
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	DOK7 CL E G H	285489	994				ORPHA	1	840	26594	610285
HP:0002093	HP:0005943	Respiratory arrest	1	DOK7 CL E G H	285489	994				ORPHA	1	840	26594	610285
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	DOK7 CL E G H	285489	994				ORPHA	1	840	26594	610285
HP:0002093	HP:0002878	Respiratory failure	1	DOK7 CL E G H	285489	994				ORPHA	1	840	26594	610285
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	DOK7 CL E G H	285489	994				ORPHA	1	840	26594	610285
HP:0002093	HP:0002643	Neonatal respiratory distress	1	DOK7 CL E G H	285489	994				ORPHA	1	840	26594	610285
HP:0002093	HP:0005943	Respiratory arrest	1	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	2927	1090	113810
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	2927	1090	113810
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	2927	1090	113810
HP:0002093	HP:0002643	Neonatal respiratory distress	1	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	2927	1090	113810
HP:0002093	HP:0002878	Respiratory failure	1	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	2927	1090	113810
HP:0002093	HP:0004878	Intercostal muscle weakness	1	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	2927	1090	113810
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	2927	1090	113810
HP:0002093	HP:0004878	Intercostal muscle weakness	1	DYNC2H1 CL E G H	79659	474				ORPHA	1	1521	2962	603297
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	DYNC2H1 CL E G H	79659	474				ORPHA	1	1521	2962	603297
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	DYNC2H1 CL E G H	79659	93271				ORPHA	1	1521	2962	603297
HP:0002093	HP:0005943	Respiratory arrest	1	DYNC2H1 CL E G H	79659	474				ORPHA	1	1521	2962	603297
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	DYNC2H1 CL E G H	79659	93271				ORPHA	1	1521	2962	603297
HP:0002093	HP:0002643	Neonatal respiratory distress	1	DYNC2H1 CL E G H	79659	93271				ORPHA	1	1521	2962	603297
HP:0002093	HP:0002878	Respiratory failure	1	DYNC2H1 CL E G H	79659	93271				ORPHA	1	1521	2962	603297
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	DYNC2H1 CL E G H	79659	474				ORPHA	1	1521	2962	603297
HP:0002093	HP:0004878	Intercostal muscle weakness	1	DYNC2H1 CL E G H	79659	93271				ORPHA	1	1521	2962	603297
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	DYNC2H1 CL E G H	79659	93271				ORPHA	1	1521	2962	603297
HP:0002093	HP:0002878	Respiratory failure	1	DYNC2H1 CL E G H	79659	474				ORPHA	1	1521	2962	603297
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	DYNC2H1 CL E G H	79659	474				ORPHA	1	1521	2962	603297
HP:0002093	HP:0002643	Neonatal respiratory distress	1	DYNC2H1 CL E G H	79659	474				ORPHA	1	1521	2962	603297
HP:0002093	HP:0005943	Respiratory arrest	1	DYNC2H1 CL E G H	79659	93271				ORPHA	1	1521	2962	603297
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	DYNC2LI1 CL E G H	51626	474				ORPHA	1	414	24595	617083
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	DYNC2LI1 CL E G H	51626	474				ORPHA	1	414	24595	617083
HP:0002093	HP:0002643	Neonatal respiratory distress	1	DYNC2LI1 CL E G H	51626	474				ORPHA	1	414	24595	617083
HP:0002093	HP:0002878	Respiratory failure	1	DYNC2LI1 CL E G H	51626	474				ORPHA	1	414	24595	617083
HP:0002093	HP:0004878	Intercostal muscle weakness	1	DYNC2LI1 CL E G H	51626	474				ORPHA	1	414	24595	617083
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	DYNC2LI1 CL E G H	51626	474				ORPHA	1	414	24595	617083
HP:0002093	HP:0005943	Respiratory arrest	1	DYNC2LI1 CL E G H	51626	474				ORPHA	1	414	24595	617083
HP:0002093	HP:0002643	Neonatal respiratory distress	1	DZIP1L CL E G H	199221	731				ORPHA	1	90	26551	617570
HP:0002093	HP:0002878	Respiratory failure	1	DZIP1L CL E G H	199221	731				ORPHA	1	90	26551	617570
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	DZIP1L CL E G H	199221	731				ORPHA	1	90	26551	617570
HP:0002093	HP:0004878	Intercostal muscle weakness	1	DZIP1L CL E G H	199221	731				ORPHA	1	90	26551	617570
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	DZIP1L CL E G H	199221	731				ORPHA	1	90	26551	617570
HP:0002093	HP:0005943	Respiratory arrest	1	DZIP1L CL E G H	199221	731				ORPHA	1	90	26551	617570
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	DZIP1L CL E G H	199221	731				ORPHA	1	90	26551	617570
HP:0002093	HP:0002878	Respiratory failure	1	EDN3 CL E G H	1908	661				ORPHA	1	155	3178	131242
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	EDN3 CL E G H	1908	661				ORPHA	1	155	3178	131242
HP:0002093	HP:0002643	Neonatal respiratory distress	1	EDN3 CL E G H	1908	661				ORPHA	1	155	3178	131242
HP:0002093	HP:0004878	Intercostal muscle weakness	1	EDN3 CL E G H	1908	661				ORPHA	1	155	3178	131242
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	EDN3 CL E G H	1908	661				ORPHA	1	155	3178	131242
HP:0002093	HP:0005943	Respiratory arrest	1	EDN3 CL E G H	1908	661				ORPHA	1	155	3178	131242
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	EDN3 CL E G H	1908	661				ORPHA	1	155	3178	131242
HP:0002093	HP:0005943	Respiratory arrest	1	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	190	17944	606489
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	190	17944	606489
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	190	17944	606489
HP:0002093	HP:0002643	Neonatal respiratory distress	1	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	190	17944	606489
HP:0002093	HP:0002878	Respiratory failure	1	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	190	17944	606489
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	190	17944	606489
HP:0002093	HP:0004878	Intercostal muscle weakness	1	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	190	17944	606489
HP:0002093	HP:0005943	Respiratory arrest	1	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	156	9137	606180
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	156	9137	606180
HP:0002093	HP:0002878	Respiratory failure	1	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	156	9137	606180
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	156	9137	606180
HP:0002093	HP:0002643	Neonatal respiratory distress	1	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	156	9137	606180
HP:0002093	HP:0004878	Intercostal muscle weakness	1	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	156	9137	606180
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	156	9137	606180
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	FBN1 CL E G H	2200	614185	Geleophysic dysplasia 2	614185	C3280054	OMIM	1	5970	3603	134797
HP:0002093	HP:0002643	Neonatal respiratory distress	1	FBN1 CL E G H	2200	614185	Geleophysic dysplasia 2	614185	C3280054	OMIM	1	5970	3603	134797
HP:0002093	HP:0002878	Respiratory failure	1	FBN1 CL E G H	2200	614185	Geleophysic dysplasia 2	614185	C3280054	OMIM	1	5970	3603	134797
HP:0002093	HP:0004878	Intercostal muscle weakness	1	FBN1 CL E G H	2200	614185	Geleophysic dysplasia 2	614185	C3280054	OMIM	1	5970	3603	134797
HP:0002093	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	FBN1 CL E G H	2200	614185	Geleophysic dysplasia 2	614185	C3280054	OMIM	1	5970	3603	134797
HP:0002093	HP:0005943	Respiratory arrest	1	FBN1 CL E G H	2200	614185	Geleophysic dysplasia 2	614185	C3280054	OMIM	1	5970	3603	134797
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	FBN1 CL E G H	2200	614185	Geleophysic dysplasia 2	614185	C3280054	OMIM	1	5970	3603	134797
HP:0002093	HP:0004887	Respiratory failure requiring assisted ventilation	1	FGFR1 CL E G H	2260	2117	Encephalopathy recurrent of childhood			ORPHA	1	688	3688	136350
HP:0002093	HP:0002747	Respiratory insufficiency due to muscle weakness	1	FGFR1 CL E G H	2260	2117	Encephalopathy recurrent of childhood			ORPHA	1	688	3688	136350
HP:0002093	HP:0002643	Neonatal respiratory distress	1	FGFR1 CL E G H	2260	2117	Encephalopathy recurrent of childhood			ORPHA	1	688	3688	136350