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 muscle tone (HP:0003808)

Parent Node:
Hypotonia (HP:0001252)

..Starting node
..Severe muscular hypotonia (HP:0006829)

Term ID:

6829

Name:

Severe muscular hypotonia

Synonym:

Hypotonia, severe; Severely decreased muscle tone

Definition:

A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.

Comments:

Reference:

HP:0006829

Genes and Diseases:

Child Nodes:

Sister Nodes:

Appendicular hypotonia (HP:0012389)

Axial hypotonia (HP:0008936)

Facial hypotonia (HP:0000297)

Frog-leg posture (HP:0031139)

Generalized hypotonia (HP:0001290)

Infantile muscular hypotonia (HP:0008947)

Neonatal hypotonia (HP:0001319)

Oral motor hypotonia (HP:0030190)

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:0006829	HP:0006829	Severe muscular hypotonia	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.		120
HP:0006829	HP:0006829	Severe muscular hypotonia	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent		96
HP:0006829	HP:0006829	Severe muscular hypotonia	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		96
HP:0006829	HP:0006829	Severe muscular hypotonia	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040281 - Very frequent		60
HP:0006829	HP:0006829	Severe muscular hypotonia	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0006829	HP:0006829	Severe muscular hypotonia	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0006829	HP:0006829	Severe muscular hypotonia	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.		43
HP:0006829	HP:0006829	Severe muscular hypotonia	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.		17
HP:0006829	HP:0006829	Severe muscular hypotonia	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0006829	HP:0006829	Severe muscular hypotonia	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6	.		38
HP:0006829	HP:0006829	Severe muscular hypotonia	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.		35
HP:0006829	HP:0006829	Severe muscular hypotonia	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0006829	HP:0006829	Severe muscular hypotonia	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.		1
HP:0006829	HP:0006829	Severe muscular hypotonia	0	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81			3
HP:0006829	HP:0006829	Severe muscular hypotonia	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0006829	HP:0006829	Severe muscular hypotonia	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.		26
HP:0006829	HP:0006829	Severe muscular hypotonia	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040281 - Very frequent		13
HP:0006829	HP:0006829	Severe muscular hypotonia	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		157
HP:0006829	HP:0006829	Severe muscular hypotonia	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.		157
HP:0006829	HP:0006829	Severe muscular hypotonia	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		184
HP:0006829	HP:0006829	Severe muscular hypotonia	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		115
HP:0006829	HP:0006829	Severe muscular hypotonia	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.		86
HP:0006829	HP:0006829	Severe muscular hypotonia	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent		4
HP:0006829	HP:0006829	Severe muscular hypotonia	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	.		108
HP:0006829	HP:0006829	Severe muscular hypotonia	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0006829	HP:0006829	Severe muscular hypotonia	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35	.		8
HP:0006829	HP:0006829	Severe muscular hypotonia	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		276
HP:0006829	HP:0006829	Severe muscular hypotonia	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		28
HP:0006829	HP:0006829	Severe muscular hypotonia	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent		13
HP:0006829	HP:0006829	Severe muscular hypotonia	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		13
HP:0006829	HP:0006829	Severe muscular hypotonia	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		136
HP:0006829	HP:0006829	Severe muscular hypotonia	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6	.		136
HP:0006829	HP:0006829	Severe muscular hypotonia	0	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.		645
HP:0006829	HP:0006829	Severe muscular hypotonia	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.	HP:0003623 - Neonatal onset	11
HP:0006829	HP:0006829	Severe muscular hypotonia	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		11
HP:0006829	HP:0006829	Severe muscular hypotonia	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional		9
HP:0006829	HP:0006829	Severe muscular hypotonia	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.		134
HP:0006829	HP:0006829	Severe muscular hypotonia	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0006829	HP:0006829	Severe muscular hypotonia	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0006829	HP:0006829	Severe muscular hypotonia	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0006829	HP:0006829	Severe muscular hypotonia	0	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9	.		21
HP:0006829	HP:0006829	Severe muscular hypotonia	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent		745
HP:0006829	HP:0006829	Severe muscular hypotonia	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		745
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		169
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		75
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		4
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		65
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)	.		66
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		66
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		46
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		59
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		62
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		82
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.		106
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		106
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		47
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		99
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		98
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53	.		7
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040281 - Very frequent		37
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0006829	HP:0006829	Severe muscular hypotonia	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.		180
HP:0006829	HP:0006829	Severe muscular hypotonia	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		213
HP:0006829	HP:0006829	Severe muscular hypotonia	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		221
HP:0006829	HP:0006829	Severe muscular hypotonia	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	.		221
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional		53
HP:0006829	HP:0006829	Severe muscular hypotonia	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040283 - Occasional		53
HP:0006829	HP:0006829	Severe muscular hypotonia	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0006829	HP:0006829	Severe muscular hypotonia	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	.		28
HP:0006829	HP:0006829	Severe muscular hypotonia	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39	.		44
HP:0006829	HP:0006829	Severe muscular hypotonia	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040281 - Very frequent		11
HP:0006829	HP:0006829	Severe muscular hypotonia	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040282 - Frequent		37
HP:0006829	HP:0006829	Severe muscular hypotonia	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.	HP:0003623 - Neonatal onset	20
HP:0006829	HP:0006829	Severe muscular hypotonia	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	.		3
HP:0006829	HP:0006829	Severe muscular hypotonia	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional		6
HP:0006829	HP:0006829	Severe muscular hypotonia	0	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16	.		271
HP:0006829	HP:0006829	Severe muscular hypotonia	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0006829	HP:0006829	Severe muscular hypotonia	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040281 - Very frequent		13
HP:0006829	HP:0006829	Severe muscular hypotonia	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent		108
HP:0006829	HP:0006829	Severe muscular hypotonia	0	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type	.		4
HP:0006829	HP:0006829	Severe muscular hypotonia	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0006829	HP:0006829	Severe muscular hypotonia	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.		35
HP:0006829	HP:0006829	Severe muscular hypotonia	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.		2
HP:0006829	HP:0006829	Severe muscular hypotonia	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		1
HP:0006829	HP:0006829	Severe muscular hypotonia	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1

Genes (71) :ABAT ACTA1 AIFM1 ALG14 ASCC1 B3GALNT2 B4GAT1 BICD2 BMP4 CARS2 CCDC174 CCDC88A DMXL2 DOLK DPM2 FKBP14 FKRP FKTN GCDH GCH1 GPT2 GRIN1 IBA57 ITPA KIF1A KLHL40 KLHL41 LARGE1 LMNA LMOD3 MPLKIP MPZ MTM1 MYMK NDUFS6 NEB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIGG PIGN PNPT1 POMGNT1 POMT1 POMT2 PURA RMND1 SLC25A1 SLC25A12 SLC39A8 SNRPN SPEG SPTBN4 STRADA TBC1D24 TBCK TPM3 TRIP4 UBA1 VAMP1 ZNHIT3

Diseases (61) :OMIM:613163 ORPHA:171433 ORPHA:171430 ORPHA:238329 OMIM:619036 OMIM:616867 OMIM:615181 OMIM:615287 OMIM:618291 OMIM:607932 OMIM:616672 OMIM:616816 OMIM:617507 OMIM:618663 ORPHA:91131 OMIM:615042 ORPHA:300179 OMIM:236670 OMIM:613153 ORPHA:25 OMIM:233910 ORPHA:477673 OMIM:614254 OMIM:615330 OMIM:616647 ORPHA:2836 OMIM:613154 OMIM:613205 OMIM:616165 OMIM:234050 OMIM:618184 OMIM:310400 ORPHA:596 OMIM:254940 OMIM:618232 ORPHA:912 OMIM:614883 OMIM:614872 OMIM:616917 ORPHA:280633 OMIM:614932 OMIM:253280 OMIM:613150 ORPHA:438216 ORPHA:314655 OMIM:614922 OMIM:615182 OMIM:612949 ORPHA:468699 ORPHA:177907 OMIM:615959 OMIM:617519 ORPHA:500533 OMIM:615338 OMIM:616900 ORPHA:488632 OMIM:617066 OMIM:616866 OMIM:301830 OMIM:618323 OMIM:260565

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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