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:
Fatigable weakness (HP:0003473)

Parent Node:
Fatigable weakness of skeletal muscles (HP:0030197)

..Starting node
..Fatiguable weakness of proximal limb muscles (HP:0030200)

Term ID:

30200

Name:

Fatiguable weakness of proximal limb muscles

Synonym:

Definition:

A type of weakness of a skeletal muscle of proximal part of a limb 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:0030200

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fatigable weakness of distal limb muscles (HP:0030198)

Fatigable weakness of neck muscles (HP:0030199)

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:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	96
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	5
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	35
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040283 - Occasional	197
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	13
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	11
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	745
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	19
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	31
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040281 - Very frequent	18
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	54
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0030200	HP:0030200	Fatiguable weakness of proximal limb muscles	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7

Genes (22) :ACTA1 ATRX BRAF CASQ1 CDH23 CFL2 FLNC KCNK9 KLHL41 LMOD3 MYPN NEB NR3C1 ORAI1 STIM1 SYNE1 TFG TP53 TPM2 TPM3 USP48 USP8

Diseases (8) :ORPHA:171436 ORPHA:96253 ORPHA:2593 ORPHA:63273 ORPHA:166108 ORPHA:171881 ORPHA:319332 ORPHA:90117

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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