Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal respiratory system physiology (HP:0002795)

Parent Node:
Respiratory insufficiency (HP:0002093)

..Starting node
..Respiratory failure (HP:0002878)

Term ID:

2878

Name:

Respiratory failure

Synonym:

Respiratory failure

Definition:

A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.

Comments:

Reference:

HP:0002878

Genes and Diseases:

Child Nodes:

Sister Nodes:

Intercostal muscle weakness (HP:0004878)

Neonatal respiratory distress (HP:0002643)

obsolete Restrictive deficit on pulmonary function testing (HP:0002111)

Respiratory arrest (HP:0005943)

Respiratory failure requiring assisted ventilation (HP:0004887)

Respiratory insufficiency due to defective ciliary clearance (HP:0200073)

Respiratory insufficiency due to muscle weakness (HP:0002747)

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:0002878	HP:0002878	Respiratory failure	0	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		147
HP:0002878	HP:0002878	Respiratory failure	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0002878	HP:0002878	Respiratory failure	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0002878	HP:0002878	Respiratory failure	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		96
HP:0002878	HP:0002878	Respiratory failure	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		96
HP:0002878	HP:0002878	Respiratory failure	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.		49
HP:0002878	HP:0002878	Respiratory failure	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0002878	HP:0002878	Respiratory failure	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0002878	HP:0002878	Respiratory failure	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040283 - Occasional		31
HP:0002878	HP:0002878	Respiratory failure	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		1
HP:0002878	HP:0002878	Respiratory failure	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040283 - Occasional		58
HP:0002878	HP:0002878	Respiratory failure	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		32
HP:0002878	HP:0002878	Respiratory failure	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002878	HP:0002878	Respiratory failure	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040283 - Occasional		78
HP:0002878	HP:0002878	Respiratory failure	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0002878	HP:0002878	Respiratory failure	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0002878	HP:0002878	Respiratory failure	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040283 - Occasional		19
HP:0002878	HP:0002878	Respiratory failure	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0002878	HP:0002878	Respiratory failure	0	BCHE CL E G H	590	983	ORPHA:132	Butyrylcholinesterase deficiency	HP:0040282 - Frequent		67
HP:0002878	HP:0002878	Respiratory failure	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0002878	HP:0002878	Respiratory failure	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040284 - Very rare		314
HP:0002878	HP:0002878	Respiratory failure	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.		14
HP:0002878	HP:0002878	Respiratory failure	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040283 - Occasional		105
HP:0002878	HP:0002878	Respiratory failure	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		56
HP:0002878	HP:0002878	Respiratory failure	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		36
HP:0002878	HP:0002878	Respiratory failure	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		126
HP:0002878	HP:0002878	Respiratory failure	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		182
HP:0002878	HP:0002878	Respiratory failure	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0002878	HP:0002878	Respiratory failure	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002878	HP:0002878	Respiratory failure	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0002878	HP:0002878	Respiratory failure	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		9
HP:0002878	HP:0002878	Respiratory failure	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		31
HP:0002878	HP:0002878	Respiratory failure	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		50
HP:0002878	HP:0002878	Respiratory failure	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002878	HP:0002878	Respiratory failure	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002878	HP:0002878	Respiratory failure	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002878	HP:0002878	Respiratory failure	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002878	HP:0002878	Respiratory failure	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0002878	HP:0002878	Respiratory failure	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		42
HP:0002878	HP:0002878	Respiratory failure	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		74
HP:0002878	HP:0002878	Respiratory failure	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		53
HP:0002878	HP:0002878	Respiratory failure	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		88
HP:0002878	HP:0002878	Respiratory failure	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		139
HP:0002878	HP:0002878	Respiratory failure	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040283 - Occasional		38
HP:0002878	HP:0002878	Respiratory failure	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		65
HP:0002878	HP:0002878	Respiratory failure	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0002878	HP:0002878	Respiratory failure	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		442
HP:0002878	HP:0002878	Respiratory failure	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		478
HP:0002878	HP:0002878	Respiratory failure	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		702
HP:0002878	HP:0002878	Respiratory failure	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0002878	HP:0002878	Respiratory failure	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0002878	HP:0002878	Respiratory failure	0	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related	.		46
HP:0002878	HP:0002878	Respiratory failure	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.		159
HP:0002878	HP:0002878	Respiratory failure	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.		108
HP:0002878	HP:0002878	Respiratory failure	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002878	HP:0002878	Respiratory failure	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		86
HP:0002878	HP:0002878	Respiratory failure	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent		1
HP:0002878	HP:0002878	Respiratory failure	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0002878	HP:0002878	Respiratory failure	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.		1496
HP:0002878	HP:0002878	Respiratory failure	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		116
HP:0002878	HP:0002878	Respiratory failure	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002878	HP:0002878	Respiratory failure	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		78
HP:0002878	HP:0002878	Respiratory failure	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		63
HP:0002878	HP:0002878	Respiratory failure	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		27
HP:0002878	HP:0002878	Respiratory failure	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		62
HP:0002878	HP:0002878	Respiratory failure	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002878	HP:0002878	Respiratory failure	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0002878	HP:0002878	Respiratory failure	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		542
HP:0002878	HP:0002878	Respiratory failure	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		527
HP:0002878	HP:0002878	Respiratory failure	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		18
HP:0002878	HP:0002878	Respiratory failure	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		73
HP:0002878	HP:0002878	Respiratory failure	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		104
HP:0002878	HP:0002878	Respiratory failure	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		2
HP:0002878	HP:0002878	Respiratory failure	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		167
HP:0002878	HP:0002878	Respiratory failure	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		91
HP:0002878	HP:0002878	Respiratory failure	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		44
HP:0002878	HP:0002878	Respiratory failure	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		747
HP:0002878	HP:0002878	Respiratory failure	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0002878	HP:0002878	Respiratory failure	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		4
HP:0002878	HP:0002878	Respiratory failure	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0002878	HP:0002878	Respiratory failure	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0002878	HP:0002878	Respiratory failure	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.	HP:0003593 - Infantile onset	12
HP:0002878	HP:0002878	Respiratory failure	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		15
HP:0002878	HP:0002878	Respiratory failure	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0002878	HP:0002878	Respiratory failure	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0002878	HP:0002878	Respiratory failure	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.		4
HP:0002878	HP:0002878	Respiratory failure	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002878	HP:0002878	Respiratory failure	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040282 - Frequent		35
HP:0002878	HP:0002878	Respiratory failure	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002878	HP:0002878	Respiratory failure	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		111
HP:0002878	HP:0002878	Respiratory failure	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		157
HP:0002878	HP:0002878	Respiratory failure	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0002878	HP:0002878	Respiratory failure	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002878	HP:0002878	Respiratory failure	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0002878	HP:0002878	Respiratory failure	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:0002878	HP:0002878	Respiratory failure	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0002878	HP:0002878	Respiratory failure	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		1
HP:0002878	HP:0002878	Respiratory failure	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		9
HP:0002878	HP:0002878	Respiratory failure	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent		137
HP:0002878	HP:0002878	Respiratory failure	0	GFRA1 CL E G H	2674	4243	OMIM:619887				1
HP:0002878	HP:0002878	Respiratory failure	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		45
HP:0002878	HP:0002878	Respiratory failure	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0002878	HP:0002878	Respiratory failure	0	GLS CL E G H	2744	4331	OMIM:618328	Epileptic encephalopathy, early infantile, 71	.
HP:0002878	HP:0002878	Respiratory failure	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002878	HP:0002878	Respiratory failure	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		3
HP:0002878	HP:0002878	Respiratory failure	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		34
HP:0002878	HP:0002878	Respiratory failure	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional		30
HP:0002878	HP:0002878	Respiratory failure	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002878	HP:0002878	Respiratory failure	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		99
HP:0002878	HP:0002878	Respiratory failure	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		99
HP:0002878	HP:0002878	Respiratory failure	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		60
HP:0002878	HP:0002878	Respiratory failure	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		60
HP:0002878	HP:0002878	Respiratory failure	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0002878	HP:0002878	Respiratory failure	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0002878	HP:0002878	Respiratory failure	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0002878	HP:0002878	Respiratory failure	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.		39
HP:0002878	HP:0002878	Respiratory failure	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5			21
HP:0002878	HP:0002878	Respiratory failure	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0002878	HP:0002878	Respiratory failure	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0002878	HP:0002878	Respiratory failure	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95			28
HP:0002878	HP:0002878	Respiratory failure	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		23
HP:0002878	HP:0002878	Respiratory failure	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0002878	HP:0002878	Respiratory failure	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0002878	HP:0002878	Respiratory failure	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.		106
HP:0002878	HP:0002878	Respiratory failure	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0002878	HP:0002878	Respiratory failure	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent		222
HP:0002878	HP:0002878	Respiratory failure	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0002878	HP:0002878	Respiratory failure	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		28
HP:0002878	HP:0002878	Respiratory failure	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		13
HP:0002878	HP:0002878	Respiratory failure	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		13
HP:0002878	HP:0002878	Respiratory failure	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040281 - Very frequent		411
HP:0002878	HP:0002878	Respiratory failure	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		116
HP:0002878	HP:0002878	Respiratory failure	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		167
HP:0002878	HP:0002878	Respiratory failure	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		135
HP:0002878	HP:0002878	Respiratory failure	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		136
HP:0002878	HP:0002878	Respiratory failure	0	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002878	HP:0002878	Respiratory failure	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		11
HP:0002878	HP:0002878	Respiratory failure	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		124
HP:0002878	HP:0002878	Respiratory failure	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040283 - Occasional		191
HP:0002878	HP:0002878	Respiratory failure	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002878	HP:0002878	Respiratory failure	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	.		12
HP:0002878	HP:0002878	Respiratory failure	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0002878	HP:0002878	Respiratory failure	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002878	HP:0002878	Respiratory failure	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		80
HP:0002878	HP:0002878	Respiratory failure	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		13
HP:0002878	HP:0002878	Respiratory failure	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54	HP:0040283 - Occasional		69
HP:0002878	HP:0002878	Respiratory failure	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent		1
HP:0002878	HP:0002878	Respiratory failure	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0002878	HP:0002878	Respiratory failure	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0002878	HP:0002878	Respiratory failure	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent		11
HP:0002878	HP:0002878	Respiratory failure	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002878	HP:0002878	Respiratory failure	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare		81
HP:0002878	HP:0002878	Respiratory failure	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		72
HP:0002878	HP:0002878	Respiratory failure	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0002878	HP:0002878	Respiratory failure	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0002878	HP:0002878	Respiratory failure	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040283 - Occasional		75
HP:0002878	HP:0002878	Respiratory failure	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.		9
HP:0002878	HP:0002878	Respiratory failure	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional		706
HP:0002878	HP:0002878	Respiratory failure	0	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	.		26
HP:0002878	HP:0002878	Respiratory failure	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0002878	HP:0002878	Respiratory failure	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18	.		31
HP:0002878	HP:0002878	Respiratory failure	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0002878	HP:0002878	Respiratory failure	0	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30	.		3
HP:0002878	HP:0002878	Respiratory failure	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0002878	HP:0002878	Respiratory failure	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0002878	HP:0002878	Respiratory failure	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002878	HP:0002878	Respiratory failure	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0002878	HP:0002878	Respiratory failure	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		745
HP:0002878	HP:0002878	Respiratory failure	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		745
HP:0002878	HP:0002878	Respiratory failure	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		24
HP:0002878	HP:0002878	Respiratory failure	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		101
HP:0002878	HP:0002878	Respiratory failure	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002878	HP:0002878	Respiratory failure	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0002878	HP:0002878	Respiratory failure	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	.		34
HP:0002878	HP:0002878	Respiratory failure	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002878	HP:0002878	Respiratory failure	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare		51
HP:0002878	HP:0002878	Respiratory failure	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		50
HP:0002878	HP:0002878	Respiratory failure	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0002878	HP:0002878	Respiratory failure	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0002878	HP:0002878	Respiratory failure	0	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0002878	HP:0002878	Respiratory failure	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002878	HP:0002878	Respiratory failure	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002878	HP:0002878	Respiratory failure	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002878	HP:0002878	Respiratory failure	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002878	HP:0002878	Respiratory failure	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		201
HP:0002878	HP:0002878	Respiratory failure	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0002878	HP:0002878	Respiratory failure	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12			62
HP:0002878	HP:0002878	Respiratory failure	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		53
HP:0002878	HP:0002878	Respiratory failure	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		21
HP:0002878	HP:0002878	Respiratory failure	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		39
HP:0002878	HP:0002878	Respiratory failure	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0002878	HP:0002878	Respiratory failure	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0002878	HP:0002878	Respiratory failure	0	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)	.		98
HP:0002878	HP:0002878	Respiratory failure	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0002878	HP:0002878	Respiratory failure	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002878	HP:0002878	Respiratory failure	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		563
HP:0002878	HP:0002878	Respiratory failure	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040283 - Occasional		60
HP:0002878	HP:0002878	Respiratory failure	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		213
HP:0002878	HP:0002878	Respiratory failure	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		221
HP:0002878	HP:0002878	Respiratory failure	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0002878	HP:0002878	Respiratory failure	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		2
HP:0002878	HP:0002878	Respiratory failure	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0002878	HP:0002878	Respiratory failure	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0002878	HP:0002878	Respiratory failure	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		25
HP:0002878	HP:0002878	Respiratory failure	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0002878	HP:0002878	Respiratory failure	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0002878	HP:0002878	Respiratory failure	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0002878	HP:0002878	Respiratory failure	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		73
HP:0002878	HP:0002878	Respiratory failure	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional		7
HP:0002878	HP:0002878	Respiratory failure	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0002878	HP:0002878	Respiratory failure	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		200
HP:0002878	HP:0002878	Respiratory failure	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		31
HP:0002878	HP:0002878	Respiratory failure	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		5
HP:0002878	HP:0002878	Respiratory failure	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		58
HP:0002878	HP:0002878	Respiratory failure	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0002878	HP:0002878	Respiratory failure	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0002878	HP:0002878	Respiratory failure	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0002878	HP:0002878	Respiratory failure	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional		1200
HP:0002878	HP:0002878	Respiratory failure	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.		60
HP:0002878	HP:0002878	Respiratory failure	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		263
HP:0002878	HP:0002878	Respiratory failure	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0002878	HP:0002878	Respiratory failure	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0002878	HP:0002878	Respiratory failure	0	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		51
HP:0002878	HP:0002878	Respiratory failure	0	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1	.	HP:0003623 - Neonatal onset	51
HP:0002878	HP:0002878	Respiratory failure	0	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		33
HP:0002878	HP:0002878	Respiratory failure	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0002878	HP:0002878	Respiratory failure	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0002878	HP:0002878	Respiratory failure	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	HP:0040284 - Very rare		14
HP:0002878	HP:0002878	Respiratory failure	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0002878	HP:0002878	Respiratory failure	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0002878	HP:0002878	Respiratory failure	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040284 - Very rare		7
HP:0002878	HP:0002878	Respiratory failure	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0002878	HP:0002878	Respiratory failure	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	HP:0040283 - Occasional		504
HP:0002878	HP:0002878	Respiratory failure	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.		22
HP:0002878	HP:0002878	Respiratory failure	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		53
HP:0002878	HP:0002878	Respiratory failure	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0002878	HP:0002878	Respiratory failure	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		45
HP:0002878	HP:0002878	Respiratory failure	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		15
HP:0002878	HP:0002878	Respiratory failure	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0002878	HP:0002878	Respiratory failure	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		3
HP:0002878	HP:0002878	Respiratory failure	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0002878	HP:0002878	Respiratory failure	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0002878	HP:0002878	Respiratory failure	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0002878	HP:0002878	Respiratory failure	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0002878	HP:0002878	Respiratory failure	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		65
HP:0002878	HP:0002878	Respiratory failure	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040282 - Frequent		16
HP:0002878	HP:0002878	Respiratory failure	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0002878	HP:0002878	Respiratory failure	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040283 - Occasional		18
HP:0002878	HP:0002878	Respiratory failure	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent		103
HP:0002878	HP:0002878	Respiratory failure	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent		63
HP:0002878	HP:0002878	Respiratory failure	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002878	HP:0002878	Respiratory failure	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0002878	HP:0002878	Respiratory failure	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0002878	HP:0002878	Respiratory failure	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		108
HP:0002878	HP:0002878	Respiratory failure	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0002878	HP:0002878	Respiratory failure	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002878	HP:0002878	Respiratory failure	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002878	HP:0002878	Respiratory failure	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0002878	HP:0002878	Respiratory failure	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.		214
HP:0002878	HP:0002878	Respiratory failure	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		1090
HP:0002878	HP:0002878	Respiratory failure	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		2738
HP:0002878	HP:0002878	Respiratory failure	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4	.		102
HP:0002878	HP:0002878	Respiratory failure	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0002878	HP:0002878	Respiratory failure	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002878	HP:0002878	Respiratory failure	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure	.		7128
HP:0002878	HP:0002878	Respiratory failure	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4	.		55
HP:0002878	HP:0002878	Respiratory failure	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent		13
HP:0002878	HP:0002878	Respiratory failure	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0002878	HP:0002878	Respiratory failure	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0002878	HP:0002878	Respiratory failure	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		116
HP:0002878	HP:0002878	Respiratory failure	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		63
HP:0002878	HP:0002878	Respiratory failure	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0002878	HP:0002878	Respiratory failure	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0002878	HP:0002878	Respiratory failure	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20

Genes (248) :ABCA3 ACTA1 ACVR1 AGRN AGTPBP1 AHCY AK9 ALG1 ANG ANXA11 ASAH1 ASCC1 ATAD1 ATXN1 ATXN2 BCHE BICD2 BLM BOLA3 BSCL2 C9ORF72 CCDC103 CCDC39 CCDC40 CCDC65 CCNF CCNO CDC45 CDC6 CDT1 CFAP221 CFAP298 CFAP300 CFAP410 CHCHD10 CHMP2B CHRNA1 CHRNB1 CHRND CHRNE CLPB COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COX7B CPT2 CRYAB CTSD DAG1 DAO DCTN1 DLK1 DMD DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DOK7 DRC1 DSP DTYMK DZIP1L ECHS1 EPHA4 ERBB3 ERBB4 EXOSC3 EXOSC8 EXOSC9 FAM20C FARSB FIG4 FKRP FLNA FOXJ1 FUS GAA GALC GAS2L2 GAS8 GATA2 GFRA1 GLE1 GLS GLT8D1 GMNN GMPPB GTPBP3 HACD1 HADHA HADHB HCCS HNRNPA1 HRAS HTRA2 HYDIN IBA57 IFIH1 IFNG IFT81 IGHMBP2 INVS ITGA7 JUP KLHL40 KLHL41 LAMA2 LAMA3 LAMB3 LAMC2 LARGE1 LBX1 LMOD3 LRP4 LRPPRC LRRC56 LTBP3 LYRM7 MAP3K20 MATR3 MCIDAS MCM4 MEG3 MEGF10 MGME1 MICOS13 MTTP MUSK MYL1 MYL2 MYOT NAXE NBN NDUFAF2 NDUFAF3 NDUFB11 NDUFB8 NDUFS2 NDUFS4 NEB NEFH NEK1 NEK10 NFS1 NFU1 NHLRC2 NKX2-1 NME8 NPC2 NUP188 NUTM2B-AS1 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OPTN ORC1 ORC4 ORC6 OSTM1 PDHA1 PEX6 PFN1 PIGA PKHD1 PLP1 POMT1 POMT2 PON1 PON2 PON3 PPARGC1A PRPH PSAP PTCD3 RAPSN RNF168 RNU4ATAC RPGR RSPH1 RSPH3 RSPH4A RSPH9 RTL1 RYR1 SARS2 SCN4A SCO2 SELENON SFTPB SFTPC SLC25A26 SLC25A46 SLC2A10 SLC34A2 SLC6A9 SMAD4 SMN1 SOD1 SON SPAG1 SPEF2 SQSTM1 STK36 SUCLG1 SURF1 TAF15 TARDBP TBCD TBK1 TFG TK2 TMEM70 TPI1 TPM2 TPM3 TREM2 TRNN TRNS1 TRPV4 TSC1 TSC2 TSEN54 TSFM TTC12 TTN TUFM UBE3B UBQLN2 UNC13A VAPB VCP VRK1 ZMYND10

Diseases (126) :ORPHA:70587 OMIM:610921 ORPHA:2020 ORPHA:171433 ORPHA:171430 OMIM:135100 ORPHA:98913 ORPHA:2254 ORPHA:88618 ORPHA:79327 ORPHA:803 ORPHA:2590 OMIM:616867 OMIM:618011 ORPHA:98755 ORPHA:132 OMIM:618291 ORPHA:125 OMIM:614299 ORPHA:363400 ORPHA:244 ORPHA:2554 ORPHA:445038 ORPHA:75840 ORPHA:2556 OMIM:608836 OMIM:613869 OMIM:610127 OMIM:616538 ORPHA:254528 ORPHA:96334 OMIM:310200 ORPHA:158687 OMIM:619847 ORPHA:731 OMIM:616277 OMIM:607598 OMIM:616081 ORPHA:1832 OMIM:613658 ORPHA:370968 OMIM:304120 ORPHA:308552 ORPHA:206436 ORPHA:3226 OMIM:619887 OMIM:611890 OMIM:618328 ORPHA:444013 OMIM:609015 ORPHA:746 OMIM:218040 OMIM:617248 OMIM:608647 OMIM:615330 OMIM:619773 ORPHA:805 OMIM:617895 OMIM:604320 OMIM:602088 OMIM:615348 ORPHA:258 ORPHA:79404 OMIM:619483 ORPHA:70472 OMIM:617809 OMIM:615838 OMIM:609981 OMIM:614399 ORPHA:352447 OMIM:618329 ORPHA:14 OMIM:618414 ORPHA:266 OMIM:617186 ORPHA:647 OMIM:618233 ORPHA:70474 OMIM:618240 OMIM:301021 OMIM:252010 OMIM:619334 OMIM:619386 OMIM:605711 OMIM:618278 ORPHA:209905 OMIM:607625 OMIM:618804 OMIM:618637 OMIM:613435 OMIM:259720 OMIM:312170 OMIM:614862 OMIM:300868 ORPHA:280210 OMIM:611722 OMIM:619057 ORPHA:420741 ORPHA:2636 ORPHA:98905 OMIM:613845 OMIM:265120 OMIM:610913 OMIM:616794 OMIM:616505 ORPHA:3342 ORPHA:60025 OMIM:617301 OMIM:139210 OMIM:253300 ORPHA:500150 OMIM:245400 OMIM:220110 ORPHA:496641 ORPHA:90117 ORPHA:254875 ORPHA:1194 OMIM:615512 OMIM:606071 OMIM:156530 OMIM:225753 OMIM:610505 OMIM:603689 OMIM:610678 ORPHA:2707 OMIM:613954

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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