Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002093	HP:0002093	Respiratory insufficiency	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		57
HP:0002093	HP:0002093	Respiratory insufficiency	0	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis	HP:0040283 - Occasional		130
HP:0002093	HP:0002093	Respiratory insufficiency	0	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome			147
HP:0002093	HP:0002093	Respiratory insufficiency	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0002093	HP:0002093	Respiratory insufficiency	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0002093	HP:0002093	Respiratory insufficiency	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.		113
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040282 - Frequent		120
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		96
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040281 - Very frequent		96
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		96
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040282 - Frequent		49
HP:0002093	HP:0002093	Respiratory insufficiency	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.		49
HP:0002093	HP:0002093	Respiratory insufficiency	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		1
HP:0002093	HP:0002093	Respiratory insufficiency	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0002093	HP:0002093	Respiratory insufficiency	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0002093	HP:0002093	Respiratory insufficiency	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional		1
HP:0002093	HP:0002093	Respiratory insufficiency	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.		82
HP:0002093	HP:0002093	Respiratory insufficiency	0	AGRN CL E G H	375790	329	OMIM:615120	Myasthenic syndrome, congenital, 8	HP:0040283 - Occasional		127
HP:0002093	HP:0002093	Respiratory insufficiency	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0002093	HP:0002093	Respiratory insufficiency	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0002093	HP:0002093	Respiratory insufficiency	0	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.		48
HP:0002093	HP:0002093	Respiratory insufficiency	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0002093	HP:0002093	Respiratory insufficiency	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0002093	HP:0002093	Respiratory insufficiency	0	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.		33
HP:0002093	HP:0002093	Respiratory insufficiency	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0002093	HP:0002093	Respiratory insufficiency	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0002093	HP:0002093	Respiratory insufficiency	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0002093	HP:0002093	Respiratory insufficiency	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040282 - Frequent		60
HP:0002093	HP:0002093	Respiratory insufficiency	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0002093	HP:0002093	Respiratory insufficiency	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional		62
HP:0002093	HP:0002093	Respiratory insufficiency	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0002093	HP:0002093	Respiratory insufficiency	0	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent			227
HP:0002093	HP:0002093	Respiratory insufficiency	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0002093	HP:0002093	Respiratory insufficiency	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG			58
HP:0002093	HP:0002093	Respiratory insufficiency	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0002093	HP:0002093	Respiratory insufficiency	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis			32
HP:0002093	HP:0002093	Respiratory insufficiency	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002093	HP:0002093	Respiratory insufficiency	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0002093	HP:0002093	Respiratory insufficiency	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0002093	HP:0002093	Respiratory insufficiency	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.		78
HP:0002093	HP:0002093	Respiratory insufficiency	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0002093	HP:0002093	Respiratory insufficiency	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0002093	HP:0002093	Respiratory insufficiency	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0002093	HP:0002093	Respiratory insufficiency	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.		17
HP:0002093	HP:0002093	Respiratory insufficiency	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0002093	HP:0002093	Respiratory insufficiency	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0002093	HP:0002093	Respiratory insufficiency	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0002093	HP:0002093	Respiratory insufficiency	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0002093	HP:0002093	Respiratory insufficiency	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0002093	HP:0002093	Respiratory insufficiency	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0002093	HP:0002093	Respiratory insufficiency	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0002093	HP:0002093	Respiratory insufficiency	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.		204
HP:0002093	HP:0002093	Respiratory insufficiency	0	BCHE CL E G H	590	983	ORPHA:132	Butyrylcholinesterase deficiency			67
HP:0002093	HP:0002093	Respiratory insufficiency	0	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome	HP:0040281 - Very frequent		5
HP:0002093	HP:0002093	Respiratory insufficiency	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0002093	HP:0002093	Respiratory insufficiency	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0002093	HP:0002093	Respiratory insufficiency	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		99
HP:0002093	HP:0002093	Respiratory insufficiency	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0002093	HP:0002093	Respiratory insufficiency	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0002093	HP:0002093	Respiratory insufficiency	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0002093	HP:0002093	Respiratory insufficiency	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.		14
HP:0002093	HP:0002093	Respiratory insufficiency	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0002093	HP:0002093	Respiratory insufficiency	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040284 - Very rare		114
HP:0002093	HP:0002093	Respiratory insufficiency	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis			56
HP:0002093	HP:0002093	Respiratory insufficiency	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0002093	HP:0002093	Respiratory insufficiency	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		147
HP:0002093	HP:0002093	Respiratory insufficiency	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0002093	HP:0002093	Respiratory insufficiency	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0002093	HP:0002093	Respiratory insufficiency	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0002093	HP:0002093	Respiratory insufficiency	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0002093	HP:0002093	Respiratory insufficiency	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0002093	HP:0002093	Respiratory insufficiency	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0002093	HP:0002093	Respiratory insufficiency	0	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27			23
HP:0002093	HP:0002093	Respiratory insufficiency	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002093	HP:0002093	Respiratory insufficiency	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002093	HP:0002093	Respiratory insufficiency	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002093	HP:0002093	Respiratory insufficiency	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0002093	HP:0002093	Respiratory insufficiency	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0002093	HP:0002093	Respiratory insufficiency	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0002093	HP:0002093	Respiratory insufficiency	0	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent		7
HP:0002093	HP:0002093	Respiratory insufficiency	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.		7
HP:0002093	HP:0002093	Respiratory insufficiency	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0002093	HP:0002093	Respiratory insufficiency	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0002093	HP:0002093	Respiratory insufficiency	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0002093	HP:0002093	Respiratory insufficiency	0	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0002093	HP:0002093	Respiratory insufficiency	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0002093	HP:0002093	Respiratory insufficiency	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002093	HP:0002093	Respiratory insufficiency	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0002093	HP:0002093	Respiratory insufficiency	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		35
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		515
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis			42
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel			74
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRNB1 CL E G H	1140	1961	OMIM:616314	Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	.		53
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel	.		88
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	.		88
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	.		88
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel			139
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel	.		139
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0002093	HP:0002093	Respiratory insufficiency	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0002093	HP:0002093	Respiratory insufficiency	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		3
HP:0002093	HP:0002093	Respiratory insufficiency	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		6
HP:0002093	HP:0002093	Respiratory insufficiency	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0002093	HP:0002093	Respiratory insufficiency	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0002093	HP:0002093	Respiratory insufficiency	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0002093	HP:0002093	Respiratory insufficiency	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	HP:0003623 - Neonatal onset	9
HP:0002093	HP:0002093	Respiratory insufficiency	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002093	HP:0002093	Respiratory insufficiency	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		215
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		222
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	.		6
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040283 - Occasional		373
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.		373
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.		243
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040282 - Frequent		749
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		442
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		478
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0002093	HP:0002093	Respiratory insufficiency	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		702
HP:0002093	HP:0002093	Respiratory insufficiency	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.		90
HP:0002093	HP:0002093	Respiratory insufficiency	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		90
HP:0002093	HP:0002093	Respiratory insufficiency	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7	.	HP:0003623 - Neonatal onset	24
HP:0002093	HP:0002093	Respiratory insufficiency	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.		44
HP:0002093	HP:0002093	Respiratory insufficiency	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0002093	HP:0002093	Respiratory insufficiency	0	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0002093	HP:0002093	Respiratory insufficiency	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0002093	HP:0002093	Respiratory insufficiency	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional		72
HP:0002093	HP:0002093	Respiratory insufficiency	0	CPS1 CL E G H	1373	2323	ORPHA:147	Carbamoyl-phosphate synthetase 1 deficiency	HP:0040281 - Very frequent		124
HP:0002093	HP:0002093	Respiratory insufficiency	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0002093	HP:0002093	Respiratory insufficiency	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0002093	HP:0002093	Respiratory insufficiency	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0002093	HP:0002093	Respiratory insufficiency	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		24
HP:0002093	HP:0002093	Respiratory insufficiency	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0002093	HP:0002093	Respiratory insufficiency	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2			46
HP:0002093	HP:0002093	Respiratory insufficiency	0	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related	.		46
HP:0002093	HP:0002093	Respiratory insufficiency	0	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			15
HP:0002093	HP:0002093	Respiratory insufficiency	0	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			17
HP:0002093	HP:0002093	Respiratory insufficiency	0	CSF2RB CL E G H	1439	2436	OMIM:614370	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5			17
HP:0002093	HP:0002093	Respiratory insufficiency	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0002093	HP:0002093	Respiratory insufficiency	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		10
HP:0002093	HP:0002093	Respiratory insufficiency	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.		159
HP:0002093	HP:0002093	Respiratory insufficiency	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1			127
HP:0002093	HP:0002093	Respiratory insufficiency	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	.		114
HP:0002093	HP:0002093	Respiratory insufficiency	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9			108
HP:0002093	HP:0002093	Respiratory insufficiency	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002093	HP:0002093	Respiratory insufficiency	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis			86
HP:0002093	HP:0002093	Respiratory insufficiency	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0002093	HP:0002093	Respiratory insufficiency	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0002093	HP:0002093	Respiratory insufficiency	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0002093	HP:0002093	Respiratory insufficiency	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0002093	HP:0002093	Respiratory insufficiency	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0002093	HP:0002093	Respiratory insufficiency	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002093	HP:0002093	Respiratory insufficiency	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		45
HP:0002093	HP:0002093	Respiratory insufficiency	0	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		1496
HP:0002093	HP:0002093	Respiratory insufficiency	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.		1496
HP:0002093	HP:0002093	Respiratory insufficiency	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.		62
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34			2
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0002093	HP:0002093	Respiratory insufficiency	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.		167
HP:0002093	HP:0002093	Respiratory insufficiency	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		91
HP:0002093	HP:0002093	Respiratory insufficiency	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial			91
HP:0002093	HP:0002093	Respiratory insufficiency	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0002093	HP:0002093	Respiratory insufficiency	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	HP:0040283 - Occasional		38
HP:0002093	HP:0002093	Respiratory insufficiency	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0002093	HP:0002093	Respiratory insufficiency	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0002093	HP:0002093	Respiratory insufficiency	0	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21			44
HP:0002093	HP:0002093	Respiratory insufficiency	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0002093	HP:0002093	Respiratory insufficiency	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0002093	HP:0002093	Respiratory insufficiency	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	.		108
HP:0002093	HP:0002093	Respiratory insufficiency	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0002093	HP:0002093	Respiratory insufficiency	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0002093	HP:0002093	Respiratory insufficiency	0	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent		304
HP:0002093	HP:0002093	Respiratory insufficiency	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent		304
HP:0002093	HP:0002093	Respiratory insufficiency	0	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent
HP:0002093	HP:0002093	Respiratory insufficiency	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0002093	HP:0002093	Respiratory insufficiency	0	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent
HP:0002093	HP:0002093	Respiratory insufficiency	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0002093	HP:0002093	Respiratory insufficiency	0	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly	.
HP:0002093	HP:0002093	Respiratory insufficiency	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent		7
HP:0002093	HP:0002093	Respiratory insufficiency	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002093	HP:0002093	Respiratory insufficiency	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0002093	HP:0002093	Respiratory insufficiency	0	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome	HP:0040281 - Very frequent		67
HP:0002093	HP:0002093	Respiratory insufficiency	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent		45
HP:0002093	HP:0002093	Respiratory insufficiency	0	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	.		58
HP:0002093	HP:0002093	Respiratory insufficiency	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0002093	HP:0002093	Respiratory insufficiency	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0002093	HP:0002093	Respiratory insufficiency	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0002093	HP:0002093	Respiratory insufficiency	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0002093	HP:0002093	Respiratory insufficiency	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis			15
HP:0002093	HP:0002093	Respiratory insufficiency	0	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19			15
HP:0002093	HP:0002093	Respiratory insufficiency	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		12
HP:0002093	HP:0002093	Respiratory insufficiency	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0002093	HP:0002093	Respiratory insufficiency	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0002093	HP:0002093	Respiratory insufficiency	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0002093	HP:0002093	Respiratory insufficiency	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0002093	HP:0002093	Respiratory insufficiency	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0002093	HP:0002093	Respiratory insufficiency	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.		4
HP:0002093	HP:0002093	Respiratory insufficiency	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002093	HP:0002093	Respiratory insufficiency	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0002093	HP:0002093	Respiratory insufficiency	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0002093	HP:0002093	Respiratory insufficiency	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002093	HP:0002093	Respiratory insufficiency	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		114
HP:0002093	HP:0002093	Respiratory insufficiency	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent		63
HP:0002093	HP:0002093	Respiratory insufficiency	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0002093	HP:0002093	Respiratory insufficiency	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0002093	HP:0002093	Respiratory insufficiency	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	.
HP:0002093	HP:0002093	Respiratory insufficiency	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome	HP:0040281 - Very frequent		172
HP:0002093	HP:0002093	Respiratory insufficiency	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional		175
HP:0002093	HP:0002093	Respiratory insufficiency	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		175
HP:0002093	HP:0002093	Respiratory insufficiency	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040283 - Occasional		145
HP:0002093	HP:0002093	Respiratory insufficiency	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent		145
HP:0002093	HP:0002093	Respiratory insufficiency	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040281 - Very frequent		145
HP:0002093	HP:0002093	Respiratory insufficiency	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.		145
HP:0002093	HP:0002093	Respiratory insufficiency	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.		145
HP:0002093	HP:0002093	Respiratory insufficiency	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset			68
HP:0002093	HP:0002093	Respiratory insufficiency	0	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.		68
HP:0002093	HP:0002093	Respiratory insufficiency	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy	.		68
HP:0002093	HP:0002093	Respiratory insufficiency	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0002093	HP:0002093	Respiratory insufficiency	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis			111
HP:0002093	HP:0002093	Respiratory insufficiency	0	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome	HP:0040282 - Frequent		61
HP:0002093	HP:0002093	Respiratory insufficiency	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		157
HP:0002093	HP:0002093	Respiratory insufficiency	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.		157
HP:0002093	HP:0002093	Respiratory insufficiency	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0002093	HP:0002093	Respiratory insufficiency	0	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	.		18
HP:0002093	HP:0002093	Respiratory insufficiency	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040283 - Occasional		493
HP:0002093	HP:0002093	Respiratory insufficiency	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0002093	HP:0002093	Respiratory insufficiency	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040282 - Frequent		233
HP:0002093	HP:0002093	Respiratory insufficiency	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040283 - Occasional		233
HP:0002093	HP:0002093	Respiratory insufficiency	0	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant	.		197
HP:0002093	HP:0002093	Respiratory insufficiency	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0002093	HP:0002093	Respiratory insufficiency	0	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		33
HP:0002093	HP:0002093	Respiratory insufficiency	0	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002093	HP:0002093	Respiratory insufficiency	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0002093	HP:0002093	Respiratory insufficiency	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0002093	HP:0002093	Respiratory insufficiency	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	.		61
HP:0002093	HP:0002093	Respiratory insufficiency	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis			105
HP:0002093	HP:0002093	Respiratory insufficiency	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0002093	HP:0002093	Respiratory insufficiency	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.		37
HP:0002093	HP:0002093	Respiratory insufficiency	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent		407
HP:0002093	HP:0002093	Respiratory insufficiency	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.		407
HP:0002093	HP:0002093	Respiratory insufficiency	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0002093	HP:0002093	Respiratory insufficiency	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0002093	HP:0002093	Respiratory insufficiency	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0002093	HP:0002093	Respiratory insufficiency	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0002093	HP:0002093	Respiratory insufficiency	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0002093	HP:0002093	Respiratory insufficiency	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0002093	HP:0002093	Respiratory insufficiency	0	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome	HP:0040281 - Very frequent		59
HP:0002093	HP:0002093	Respiratory insufficiency	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0002093	HP:0002093	Respiratory insufficiency	0	GFRA1 CL E G H	2674	4243	OMIM:619887				1
HP:0002093	HP:0002093	Respiratory insufficiency	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0002093	HP:0002093	Respiratory insufficiency	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0002093	HP:0002093	Respiratory insufficiency	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0002093	HP:0002093	Respiratory insufficiency	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis			45
HP:0002093	HP:0002093	Respiratory insufficiency	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0002093	HP:0002093	Respiratory insufficiency	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare		270
HP:0002093	HP:0002093	Respiratory insufficiency	0	GLS CL E G H	2744	4331	OMIM:618328	Epileptic encephalopathy, early infantile, 71	.
HP:0002093	HP:0002093	Respiratory insufficiency	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis
HP:0002093	HP:0002093	Respiratory insufficiency	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0002093	HP:0002093	Respiratory insufficiency	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0002093	HP:0002093	Respiratory insufficiency	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0002093	HP:0002093	Respiratory insufficiency	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0002093	HP:0002093	Respiratory insufficiency	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		24
HP:0002093	HP:0002093	Respiratory insufficiency	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		34
HP:0002093	HP:0002093	Respiratory insufficiency	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0002093	HP:0002093	Respiratory insufficiency	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	HP:0040283 - Occasional		34
HP:0002093	HP:0002093	Respiratory insufficiency	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002093	HP:0002093	Respiratory insufficiency	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0002093	HP:0002093	Respiratory insufficiency	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002093	HP:0002093	Respiratory insufficiency	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002093	HP:0002093	Respiratory insufficiency	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040282 - Frequent		3
HP:0002093	HP:0002093	Respiratory insufficiency	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0002093	HP:0002093	Respiratory insufficiency	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0002093	HP:0002093	Respiratory insufficiency	0	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0002093	HP:0002093	Respiratory insufficiency	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002093	HP:0002093	Respiratory insufficiency	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		99
HP:0002093	HP:0002093	Respiratory insufficiency	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		99
HP:0002093	HP:0002093	Respiratory insufficiency	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		60
HP:0002093	HP:0002093	Respiratory insufficiency	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		60
HP:0002093	HP:0002093	Respiratory insufficiency	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0002093	HP:0002093	Respiratory insufficiency	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		10
HP:0002093	HP:0002093	Respiratory insufficiency	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040283 - Occasional		32
HP:0002093	HP:0002093	Respiratory insufficiency	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040283 - Occasional		4
HP:0002093	HP:0002093	Respiratory insufficiency	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0002093	HP:0002093	Respiratory insufficiency	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent		1
HP:0002093	HP:0002093	Respiratory insufficiency	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		1
HP:0002093	HP:0002093	Respiratory insufficiency	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0002093	HP:0002093	Respiratory insufficiency	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0002093	HP:0002093	Respiratory insufficiency	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0002093	HP:0002093	Respiratory insufficiency	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0002093	HP:0002093	Respiratory insufficiency	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0002093	HP:0002093	Respiratory insufficiency	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0002093	HP:0002093	Respiratory insufficiency	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0002093	HP:0002093	Respiratory insufficiency	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0002093	HP:0002093	Respiratory insufficiency	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5			21
HP:0002093	HP:0002093	Respiratory insufficiency	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002093	HP:0002093	Respiratory insufficiency	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0002093	HP:0002093	Respiratory insufficiency	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0002093	HP:0002093	Respiratory insufficiency	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95			28
HP:0002093	HP:0002093	Respiratory insufficiency	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0002093	HP:0002093	Respiratory insufficiency	0	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent		148
HP:0002093	HP:0002093	Respiratory insufficiency	0	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent		48
HP:0002093	HP:0002093	Respiratory insufficiency	0	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome	HP:0040282 - Frequent		65
HP:0002093	HP:0002093	Respiratory insufficiency	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent		65
HP:0002093	HP:0002093	Respiratory insufficiency	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0002093	HP:0002093	Respiratory insufficiency	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0002093	HP:0002093	Respiratory insufficiency	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	HP:0040283 - Occasional		7
HP:0002093	HP:0002093	Respiratory insufficiency	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent		18
HP:0002093	HP:0002093	Respiratory insufficiency	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0002093	HP:0002093	Respiratory insufficiency	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.		106
HP:0002093	HP:0002093	Respiratory insufficiency	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional		1
HP:0002093	HP:0002093	Respiratory insufficiency	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0002093	HP:0002093	Respiratory insufficiency	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0002093	HP:0002093	Respiratory insufficiency	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent		57
HP:0002093	HP:0002093	Respiratory insufficiency	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0002093	HP:0002093	Respiratory insufficiency	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0002093	HP:0002093	Respiratory insufficiency	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0002093	HP:0002093	Respiratory insufficiency	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0002093	HP:0002093	Respiratory insufficiency	0	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		121
HP:0002093	HP:0002093	Respiratory insufficiency	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0002093	HP:0002093	Respiratory insufficiency	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0002093	HP:0002093	Respiratory insufficiency	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0002093	HP:0002093	Respiratory insufficiency	0	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis			327
HP:0002093	HP:0002093	Respiratory insufficiency	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0002093	HP:0002093	Respiratory insufficiency	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0002093	HP:0002093	Respiratory insufficiency	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0002093	HP:0002093	Respiratory insufficiency	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0002093	HP:0002093	Respiratory insufficiency	0	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9	HP:0040283 - Occasional		13
HP:0002093	HP:0002093	Respiratory insufficiency	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0002093	HP:0002093	Respiratory insufficiency	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		13
HP:0002093	HP:0002093	Respiratory insufficiency	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0002093	HP:0002093	Respiratory insufficiency	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040284 - Very rare		411
HP:0002093	HP:0002093	Respiratory insufficiency	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0002093	HP:0002093	Respiratory insufficiency	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0002093	HP:0002093	Respiratory insufficiency	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		92
HP:0002093	HP:0002093	Respiratory insufficiency	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0002093	HP:0002093	Respiratory insufficiency	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0002093	HP:0002093	Respiratory insufficiency	0	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency			211
HP:0002093	HP:0002093	Respiratory insufficiency	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		136
HP:0002093	HP:0002093	Respiratory insufficiency	0	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	.		54
HP:0002093	HP:0002093	Respiratory insufficiency	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040283 - Occasional		70
HP:0002093	HP:0002093	Respiratory insufficiency	0	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002093	HP:0002093	Respiratory insufficiency	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		13
HP:0002093	HP:0002093	Respiratory insufficiency	0	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.		31
HP:0002093	HP:0002093	Respiratory insufficiency	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0002093	HP:0002093	Respiratory insufficiency	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		88
HP:0002093	HP:0002093	Respiratory insufficiency	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.		2
HP:0002093	HP:0002093	Respiratory insufficiency	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0002093	HP:0002093	Respiratory insufficiency	0	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation	HP:0040282 - Frequent		645
HP:0002093	HP:0002093	Respiratory insufficiency	0	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related			645
HP:0002093	HP:0002093	Respiratory insufficiency	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10			11
HP:0002093	HP:0002093	Respiratory insufficiency	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0002093	HP:0002093	Respiratory insufficiency	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		11
HP:0002093	HP:0002093	Respiratory insufficiency	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0002093	HP:0002093	Respiratory insufficiency	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0002093	HP:0002093	Respiratory insufficiency	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0002093	HP:0002093	Respiratory insufficiency	0	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		125
HP:0002093	HP:0002093	Respiratory insufficiency	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0002093	HP:0002093	Respiratory insufficiency	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0002093	HP:0002093	Respiratory insufficiency	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0002093	HP:0002093	Respiratory insufficiency	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3			12
HP:0002093	HP:0002093	Respiratory insufficiency	0	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		92
HP:0002093	HP:0002093	Respiratory insufficiency	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0002093	HP:0002093	Respiratory insufficiency	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002093	HP:0002093	Respiratory insufficiency	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0002093	HP:0002093	Respiratory insufficiency	0	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent		5
HP:0002093	HP:0002093	Respiratory insufficiency	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002093	HP:0002093	Respiratory insufficiency	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	.
HP:0002093	HP:0002093	Respiratory insufficiency	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis			80
HP:0002093	HP:0002093	Respiratory insufficiency	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0002093	HP:0002093	Respiratory insufficiency	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0002093	HP:0002093	Respiratory insufficiency	0	MCCC1 CL E G H	56922	6936	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency	HP:0040283 - Occasional		81
HP:0002093	HP:0002093	Respiratory insufficiency	0	MCCC2 CL E G H	64087	6937	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency	HP:0040283 - Occasional		77
HP:0002093	HP:0002093	Respiratory insufficiency	0	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42			13
HP:0002093	HP:0002093	Respiratory insufficiency	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0002093	HP:0002093	Respiratory insufficiency	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54	HP:0040283 - Occasional		69
HP:0002093	HP:0002093	Respiratory insufficiency	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0002093	HP:0002093	Respiratory insufficiency	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.		950
HP:0002093	HP:0002093	Respiratory insufficiency	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0002093	HP:0002093	Respiratory insufficiency	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002093	HP:0002093	Respiratory insufficiency	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0002093	HP:0002093	Respiratory insufficiency	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		45
HP:0002093	HP:0002093	Respiratory insufficiency	0	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B			203
HP:0002093	HP:0002093	Respiratory insufficiency	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.		11
HP:0002093	HP:0002093	Respiratory insufficiency	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0002093	HP:0002093	Respiratory insufficiency	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002093	HP:0002093	Respiratory insufficiency	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0002093	HP:0002093	Respiratory insufficiency	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0002093	HP:0002093	Respiratory insufficiency	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent		97
HP:0002093	HP:0002093	Respiratory insufficiency	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0002093	HP:0002093	Respiratory insufficiency	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0002093	HP:0002093	Respiratory insufficiency	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0002093	HP:0002093	Respiratory insufficiency	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0002093	HP:0002093	Respiratory insufficiency	0	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent		185
HP:0002093	HP:0002093	Respiratory insufficiency	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0002093	HP:0002093	Respiratory insufficiency	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0002093	HP:0002093	Respiratory insufficiency	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		72
HP:0002093	HP:0002093	Respiratory insufficiency	0	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	.		72
HP:0002093	HP:0002093	Respiratory insufficiency	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYBPC1 CL E G H	4604	7549	OMIM:614915	Lethal congenital contracture syndrome 4	.		66
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040282 - Frequent		9
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040281 - Very frequent		1269
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1269
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.		1269
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome	HP:0040281 - Very frequent
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040283 - Occasional		75
HP:0002093	HP:0002093	Respiratory insufficiency	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0002093	HP:0002093	Respiratory insufficiency	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0002093	HP:0002093	Respiratory insufficiency	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0002093	HP:0002093	Respiratory insufficiency	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0002093	HP:0002093	Respiratory insufficiency	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002093	HP:0002093	Respiratory insufficiency	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002093	HP:0002093	Respiratory insufficiency	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22	.		91
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.		1
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26	.		27
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10			26
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18			31
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30			3
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32	.
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.		65
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8	.		22
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3	.		38
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2	.		42
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0002093	HP:0002093	Respiratory insufficiency	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0002093	HP:0002093	Respiratory insufficiency	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0002093	HP:0002093	Respiratory insufficiency	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0002093	HP:0002093	Respiratory insufficiency	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0002093	HP:0002093	Respiratory insufficiency	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0002093	HP:0002093	Respiratory insufficiency	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0002093	HP:0002093	Respiratory insufficiency	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		745
HP:0002093	HP:0002093	Respiratory insufficiency	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis			24
HP:0002093	HP:0002093	Respiratory insufficiency	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis			101
HP:0002093	HP:0002093	Respiratory insufficiency	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24	HP:0040284 - Very rare		101
HP:0002093	HP:0002093	Respiratory insufficiency	0	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0002093	HP:0002093	Respiratory insufficiency	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0002093	HP:0002093	Respiratory insufficiency	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0002093	HP:0002093	Respiratory insufficiency	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0002093	HP:0002093	Respiratory insufficiency	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	.		34
HP:0002093	HP:0002093	Respiratory insufficiency	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0002093	HP:0002093	Respiratory insufficiency	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0002093	HP:0002093	Respiratory insufficiency	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0002093	HP:0002093	Respiratory insufficiency	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0002093	HP:0002093	Respiratory insufficiency	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0002093	HP:0002093	Respiratory insufficiency	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0002093	HP:0002093	Respiratory insufficiency	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1			241
HP:0002093	HP:0002093	Respiratory insufficiency	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0002093	HP:0002093	Respiratory insufficiency	0	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0002093	HP:0002093	Respiratory insufficiency	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		84
HP:0002093	HP:0002093	Respiratory insufficiency	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0002093	HP:0002093	Respiratory insufficiency	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0002093	HP:0002093	Respiratory insufficiency	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0002093	HP:0002093	Respiratory insufficiency	0	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0002093	HP:0002093	Respiratory insufficiency	0	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia	.		2
HP:0002093	HP:0002093	Respiratory insufficiency	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0002093	HP:0002093	Respiratory insufficiency	0	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0002093	HP:0002093	Respiratory insufficiency	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0002093	HP:0002093	Respiratory insufficiency	0	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002093	HP:0002093	Respiratory insufficiency	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0002093	HP:0002093	Respiratory insufficiency	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.	HP:0003623 - Neonatal onset
HP:0002093	HP:0002093	Respiratory insufficiency	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0002093	HP:0002093	Respiratory insufficiency	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0002093	HP:0002093	Respiratory insufficiency	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0002093	HP:0002093	Respiratory insufficiency	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0002093	HP:0002093	Respiratory insufficiency	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12			62
HP:0002093	HP:0002093	Respiratory insufficiency	0	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9			19
HP:0002093	HP:0002093	Respiratory insufficiency	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0002093	HP:0002093	Respiratory insufficiency	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0002093	HP:0002093	Respiratory insufficiency	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0002093	HP:0002093	Respiratory insufficiency	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0002093	HP:0002093	Respiratory insufficiency	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0002093	HP:0002093	Respiratory insufficiency	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0002093	HP:0002093	Respiratory insufficiency	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	HP:0040284 - Very rare		3
HP:0002093	HP:0002093	Respiratory insufficiency	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0002093	HP:0002093	Respiratory insufficiency	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0002093	HP:0002093	Respiratory insufficiency	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		169
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		75
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		4
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		65
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		66
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		46
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		59
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		62
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		82
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		106
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		47
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		99
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)			98
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		98
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040283 - Occasional		72
HP:0002093	HP:0002093	Respiratory insufficiency	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0002093	HP:0002093	Respiratory insufficiency	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis			6
HP:0002093	HP:0002093	Respiratory insufficiency	0	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome	HP:0040281 - Very frequent		86
HP:0002093	HP:0002093	Respiratory insufficiency	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040283 - Occasional		45
HP:0002093	HP:0002093	Respiratory insufficiency	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0002093	HP:0002093	Respiratory insufficiency	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002093	HP:0002093	Respiratory insufficiency	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0002093	HP:0002093	Respiratory insufficiency	0	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3			1
HP:0002093	HP:0002093	Respiratory insufficiency	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002093	HP:0002093	Respiratory insufficiency	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.		3
HP:0002093	HP:0002093	Respiratory insufficiency	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0002093	HP:0002093	Respiratory insufficiency	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0002093	HP:0002093	Respiratory insufficiency	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0002093	HP:0002093	Respiratory insufficiency	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0002093	HP:0002093	Respiratory insufficiency	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4			186
HP:0002093	HP:0002093	Respiratory insufficiency	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.		105
HP:0002093	HP:0002093	Respiratory insufficiency	0	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome	HP:0040282 - Frequent		45
HP:0002093	HP:0002093	Respiratory insufficiency	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0002093	HP:0002093	Respiratory insufficiency	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	.	HP:0003623 - Neonatal onset	6
HP:0002093	HP:0002093	Respiratory insufficiency	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0002093	HP:0002093	Respiratory insufficiency	0	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies	HP:0040283 - Occasional		79
HP:0002093	HP:0002093	Respiratory insufficiency	0	POGLUT1 CL E G H	56983	22954	OMIM:617232	Muscular dystrophy, limb-girdle, type 2Z	.		6
HP:0002093	HP:0002093	Respiratory insufficiency	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0002093	HP:0002093	Respiratory insufficiency	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0002093	HP:0002093	Respiratory insufficiency	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0002093	HP:0002093	Respiratory insufficiency	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0002093	HP:0002093	Respiratory insufficiency	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0002093	HP:0002093	Respiratory insufficiency	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0002093	HP:0002093	Respiratory insufficiency	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		38
HP:0002093	HP:0002093	Respiratory insufficiency	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		31
HP:0002093	HP:0002093	Respiratory insufficiency	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0002093	HP:0002093	Respiratory insufficiency	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		213
HP:0002093	HP:0002093	Respiratory insufficiency	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		221
HP:0002093	HP:0002093	Respiratory insufficiency	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.		221
HP:0002093	HP:0002093	Respiratory insufficiency	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0002093	HP:0002093	Respiratory insufficiency	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis			2
HP:0002093	HP:0002093	Respiratory insufficiency	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0002093	HP:0002093	Respiratory insufficiency	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0002093	HP:0002093	Respiratory insufficiency	0	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0002093	HP:0002093	Respiratory insufficiency	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002093	HP:0002093	Respiratory insufficiency	0	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		63
HP:0002093	HP:0002093	Respiratory insufficiency	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis			25
HP:0002093	HP:0002093	Respiratory insufficiency	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0002093	HP:0002093	Respiratory insufficiency	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0002093	HP:0002093	Respiratory insufficiency	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0002093	HP:0002093	Respiratory insufficiency	0	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency	HP:0040281 - Very frequent		81
HP:0002093	HP:0002093	Respiratory insufficiency	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0002093	HP:0002093	Respiratory insufficiency	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0002093	HP:0002093	Respiratory insufficiency	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0002093	HP:0002093	Respiratory insufficiency	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		3
HP:0002093	HP:0002093	Respiratory insufficiency	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.		53
HP:0002093	HP:0002093	Respiratory insufficiency	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0002093	HP:0002093	Respiratory insufficiency	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		73
HP:0002093	HP:0002093	Respiratory insufficiency	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0002093	HP:0002093	Respiratory insufficiency	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	.		73
HP:0002093	HP:0002093	Respiratory insufficiency	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0002093	HP:0002093	Respiratory insufficiency	0	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.		25
HP:0002093	HP:0002093	Respiratory insufficiency	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0002093	HP:0002093	Respiratory insufficiency	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		3
HP:0002093	HP:0002093	Respiratory insufficiency	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0002093	HP:0002093	Respiratory insufficiency	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0002093	HP:0002093	Respiratory insufficiency	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	HP:0040283 - Occasional		3
HP:0002093	HP:0002093	Respiratory insufficiency	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.		33
HP:0002093	HP:0002093	Respiratory insufficiency	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0002093	HP:0002093	Respiratory insufficiency	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0002093	HP:0002093	Respiratory insufficiency	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0002093	HP:0002093	Respiratory insufficiency	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0002093	HP:0002093	Respiratory insufficiency	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0002093	HP:0002093	Respiratory insufficiency	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0002093	HP:0002093	Respiratory insufficiency	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0002093	HP:0002093	Respiratory insufficiency	0	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32			5
HP:0002093	HP:0002093	Respiratory insufficiency	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0002093	HP:0002093	Respiratory insufficiency	0	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11			58
HP:0002093	HP:0002093	Respiratory insufficiency	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0002093	HP:0002093	Respiratory insufficiency	0	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0002093	HP:0002093	Respiratory insufficiency	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002093	HP:0002093	Respiratory insufficiency	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0002093	HP:0002093	Respiratory insufficiency	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002093	HP:0002093	Respiratory insufficiency	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0002093	HP:0002093	Respiratory insufficiency	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0002093	HP:0002093	Respiratory insufficiency	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0002093	HP:0002093	Respiratory insufficiency	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0002093	HP:0002093	Respiratory insufficiency	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0002093	HP:0002093	Respiratory insufficiency	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0002093	HP:0002093	Respiratory insufficiency	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.		1200
HP:0002093	HP:0002093	Respiratory insufficiency	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1200
HP:0002093	HP:0002093	Respiratory insufficiency	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.		60
HP:0002093	HP:0002093	Respiratory insufficiency	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0002093	HP:0002093	Respiratory insufficiency	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0002093	HP:0002093	Respiratory insufficiency	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional		263
HP:0002093	HP:0002093	Respiratory insufficiency	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg			263
HP:0002093	HP:0002093	Respiratory insufficiency	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0002093	HP:0002093	Respiratory insufficiency	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0002093	HP:0002093	Respiratory insufficiency	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0002093	HP:0002093	Respiratory insufficiency	0	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		137
HP:0002093	HP:0002093	Respiratory insufficiency	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0002093	HP:0002093	Respiratory insufficiency	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0002093	HP:0002093	Respiratory insufficiency	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		144
HP:0002093	HP:0002093	Respiratory insufficiency	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040281 - Very frequent		144
HP:0002093	HP:0002093	Respiratory insufficiency	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		16
HP:0002093	HP:0002093	Respiratory insufficiency	0	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy	HP:0040283 - Occasional
HP:0002093	HP:0002093	Respiratory insufficiency	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent		49
HP:0002093	HP:0002093	Respiratory insufficiency	0	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome			51
HP:0002093	HP:0002093	Respiratory insufficiency	0	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency			51
HP:0002093	HP:0002093	Respiratory insufficiency	0	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1			51
HP:0002093	HP:0002093	Respiratory insufficiency	0	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome			33
HP:0002093	HP:0002093	Respiratory insufficiency	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002093	HP:0002093	Respiratory insufficiency	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional		493
HP:0002093	HP:0002093	Respiratory insufficiency	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		2
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.		2
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040283 - Occasional		110
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	.		28
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent		40
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY			35
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.		166
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II			166
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent		166
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		274
HP:0002093	HP:0002093	Respiratory insufficiency	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0002093	HP:0002093	Respiratory insufficiency	0