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:
Abnormality of the musculature of the lower limbs (HP:0001437)

Grandparent Node:
Limb muscle weakness (HP:0003690)

Grandparent Node:
Proximal muscle weakness (HP:0003701)

Parent Node:
Proximal muscle weakness in lower limbs (HP:0008994)

..Starting node
..Quadriceps muscle weakness (HP:0003731)

Term ID:

3731

Name:

Quadriceps muscle weakness

Synonym:

Quadriceps weakness

Definition:

Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).

Comments:

Reference:

HP:0003731

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0003731	HP:0003731	Quadriceps muscle weakness	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	65
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	442
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	478
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	702
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent	600
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional	203
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040283 - Occasional	7128
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0003731	HP:0003731	Quadriceps muscle weakness	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional	63

Genes (19) :ADSS1 COL12A1 COL6A1 COL6A2 COL6A3 DMD DYSF GDAP1 HSPG2 MFN2 PHKA1 POLG POLG2 RRM2B SLC25A4 TRIM32 TTN TWNK VCP

Diseases (14) :ORPHA:482601 ORPHA:610 ORPHA:206546 ORPHA:45448 ORPHA:101097 ORPHA:99948 OMIM:255800 ORPHA:99947 OMIM:300559 ORPHA:254892 OMIM:254110 OMIM:603689 ORPHA:609 ORPHA:435387

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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