Human Phenotype Ontology

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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)

Grandparent Node:
Muscle weakness (HP:0001324)

Parent Node:
Respiratory insufficiency (HP:0002093)

Parent Node:
Weakness of muscles of respiration (HP:0004347)

..Starting node
..Respiratory insufficiency due to muscle weakness (HP:0002747)

Term ID:

2747

Name:

Respiratory insufficiency due to muscle weakness

Synonym:

Decreased lung function due to weak breathing muscles; Decreased respiratory function due to muscle weakness; Respiratory distress due to muscle weakness; Respiratory failure due to muscle weakness; Respiratory muscle weakness

Definition:

Comments:

Reference:

HP:0002747

Genes and Diseases:

Child Nodes:

........

Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)

Sister Nodes:

Reduced maximal expiratory pressure (HP:0012497)

Reduced maximal inspiratory pressure (HP:0012496)

Respiratory paralysis (HP:0002203)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH		120
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	96
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.	60
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040282 - Frequent	78
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.	46
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	99
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	HP:0040283 - Occasional	99
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation	.	1
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7	HP:0040283 - Occasional	35
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.	65
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.	139
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.	40
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional	3
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.	442
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.	478
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.	702
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.	90
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040283 - Occasional	46
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.	46
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040282 - Frequent	263
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1		263
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	167
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	.	91
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	107
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19	.	15
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	.	68
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.	68
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	68
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	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:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.	407
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	127
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient	.	411
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	645
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.	645
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.	11
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.	80
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	HP:0040283 - Occasional	203
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040283 - Occasional	11
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040284 - Very rare	8
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.	134
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	7
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	19
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy		1269
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	131
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9	.	19
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.	186
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.	18
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent	3
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent	125
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040284 - Very rare	1200
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040284 - Very rare	1200
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy		144
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	144
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes		28
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	.	68
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes		9
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.	287
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.	66
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	1129
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	508
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes		4
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.	65
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent	103
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	171
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy	HP:0040283 - Occasional	37
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	HP:0040283 - Occasional	71
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.	28
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	54
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	108
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040281 - Very frequent	4
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type	.	4
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy		7128
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0002747	HP:0002747	Respiratory insufficiency due to muscle weakness	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.	45
HP:0002747	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	127
HP:0002747	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	65
HP:0002747	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.	74
HP:0002747	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	6
HP:0002747	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	1269
HP:0002747	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent
HP:0002747	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	144
HP:0002747	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0002747	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	28
HP:0002747	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	9
HP:0002747	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0002747	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	4
HP:0002747	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	7128
HP:0002747	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2

Genes (96) :ACOX1 ACTA1 AGRN AGTPBP1 AIFM1 ASAH1 BICD2 BIN1 CCDC174 CFL2 CHAT CHRNA1 CHRNE CNTN1 COA8 COL13A1 COL25A1 COL6A1 COL6A2 COL6A3 COLQ CRYAB DES DMD DNM2 DOK7 DYM EMD ERBB4 ERGIC1 FHL1 GAA GFPT1 GIPC1 GLE1 HACD1 ITGA7 KBTBD13 KLHL41 LAMA2 LMNA LMOD3 LRP12 MAP3K20 MATR3 MFN2 MGME1 MORC2 MPZ MTMR14 MYF6 MYH7 MYL1 MYL2 MYO9A MYPN NEB NOTCH2NLC ORAI1 PAX7 PLEKHG5 POLG POMK RNASEH1 RRM2B RYR1 SCYL2 SELENON SLC18A3 SLC25A1 SLC25A4 SLC5A7 SNAP25 SPG11 SUCLA2 SURF1 SYNE1 SYNE2 SYT2 TARDBP TK2 TMEM43 TNNT1 TNPO3 TPI1 TPM2 TPM3 TRIP4 TRNL1 TRNL2 TRNN TRNS1 TTN UBA1 VAMP1 YARS2

Diseases (80) :OMIM:618960 ORPHA:171439 ORPHA:2020 OMIM:255310 OMIM:161800 ORPHA:98914 OMIM:618276 OMIM:300816 OMIM:159950 ORPHA:2590 OMIM:618291 ORPHA:169189 OMIM:255200 OMIM:616816 OMIM:610687 OMIM:254210 OMIM:601462 OMIM:608930 OMIM:605809 OMIM:608931 OMIM:612540 ORPHA:436271 ORPHA:1143 OMIM:158810 OMIM:254090 OMIM:603034 ORPHA:399058 OMIM:608810 ORPHA:98909 OMIM:601419 OMIM:310200 OMIM:254300 ORPHA:239 ORPHA:98863 OMIM:615515 OMIM:300718 OMIM:300717 ORPHA:308552 OMIM:232300 ORPHA:98897 OMIM:611890 OMIM:607855 ORPHA:98853 OMIM:613205 OMIM:616165 OMIM:164310 OMIM:606070 ORPHA:600 OMIM:617087 ORPHA:352447 ORPHA:466768 OMIM:618184 ORPHA:324604 OMIM:618414 OMIM:256030 OMIM:612782 OMIM:618578 OMIM:611067 OMIM:258450 OMIM:615249 ORPHA:329336 ORPHA:597 ORPHA:424107 OMIM:617184 OMIM:602099 OMIM:612073 OMIM:220110 OMIM:619461 OMIM:612069 OMIM:609560 ORPHA:254875 ORPHA:98902 OMIM:608423 OMIM:615512 ORPHA:486815 OMIM:617066 ORPHA:663 ORPHA:178464 OMIM:301830 OMIM:613561

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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