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 synaptic transmission at the neuromuscular junction (HP:0003398)

Grandparent Node:
Muscle weakness (HP:0001324)

Parent Node:
Fatigable weakness (HP:0003473)

..Starting node
..Fatigable weakness of respiratory muscles (HP:0030196)

Term ID:

30196

Name:

Fatigable weakness of respiratory muscles

Synonym:

Definition:

A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.

Comments:

Reference:

HP:0030196

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fatigable weakness of bulbar muscles (HP:0030192)

Fatigable weakness of skeletal muscles (HP:0030197)

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:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	96
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	1
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	32
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	56
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare	247
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	35
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	42
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	74
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	53
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	88
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	139
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	86
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040282 - Frequent	263
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	91
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	15
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	111
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	45
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare	73
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	13
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	11
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	124
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	80
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	72
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	745
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	24
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	101
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	2
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	25
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	73
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent	3
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent	125
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare	263
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	263
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	53
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	65
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	54
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	116
HP:0030196	HP:0030196	Fatigable weakness of respiratory muscles	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	63

Genes (60) :ACTA1 AGRN AK9 ANG ANXA11 ATXN2 C9ORF72 CACNA1S CCNF CFAP410 CFL2 CHCHD10 CHMP2B CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DAO DCTN1 DES DOK7 EPHA4 ERBB4 FIG4 FUS GLE1 GLT8D1 HNRNPA1 KCNE3 KLHL41 LMOD3 LRP4 MATR3 MUSK NEB NEFH NEK1 OPTN PFN1 PON1 PON2 PON3 PPARGC1A PRPH RAPSN RNASEH1 RRM2B SCN4A SOD1 SQSTM1 TAF15 TARDBP TBK1 TPM2 TREM2 UBQLN2 UNC13A VAPB VCP

Diseases (6) :ORPHA:171436 ORPHA:98913 ORPHA:803 ORPHA:681 ORPHA:98909 ORPHA:329336

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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