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:
Fatigable weakness (HP:0003473)

Parent Node:
Fatigable weakness of bulbar muscles (HP:0030192)

..Starting node
..Fatigable weakness of swallowing muscles (HP:0030195)

Term ID:

30195

Name:

Fatigable weakness of swallowing muscles

Synonym:

Definition:

A type of weakness of the muscles involved in swallowing 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:0030195

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fatigable weakness of chewing muscles (HP:0030193)

Fatigable weakness of speech muscles (HP:0030194)

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:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	32
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	56
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	42
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	86
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	15
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	111
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	45
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	80
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	24
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	101
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	2
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	25
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	53
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	65
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	116
HP:0030195	HP:0030195	Fatigable weakness of swallowing muscles	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	63

Genes (43) :ANG ANXA11 ATXN2 C9ORF72 CCNF CFAP410 CHCHD10 CHMP2B COA8 COX1 COX3 DAO DCTN1 DKK1 EPHA4 ERBB4 FIG4 FUS GLE1 GLT8D1 HNRNPA1 LPIN1 MATR3 MTM1 NEFH NEK1 OPTN PFN1 PON1 PON2 PON3 PPARGC1A PRPH SOD1 SQSTM1 TAF15 TARDBP TBK1 TREM2 UBQLN2 UNC13A VAPB VCP

Diseases (5) :ORPHA:803 ORPHA:436271 ORPHA:99845 ORPHA:268882 ORPHA:596

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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