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 physiology (HP:0011804)

Parent Node:
Muscle weakness (HP:0001324)

..Starting node
..Ankle weakness (HP:0031374)

Term ID:

31374

Name:

Ankle weakness

Synonym:

Definition:

Reduced strength of the muscles that lift or otherwise move the foot at the ankle.

Comments:

Reference:

HP:0031374

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abdominal wall muscle weakness (HP:0009023)

Axial muscle weakness (HP:0003327)

Bulbar palsy (HP:0001283)

Cold paresis (HP:0031372)

Diaphragmatic weakness (HP:0009113)

Distal muscle weakness (HP:0002460)

Facial palsy (HP:0010628)

Fatigable weakness (HP:0003473)

Generalized muscle weakness (HP:0003324)

Intercostal muscle weakness (HP:0004878)

Limb muscle weakness (HP:0003690)

Limb-girdle muscle weakness (HP:0003325)

Muscle flaccidity (HP:0010547)

Neck muscle weakness (HP:0000467)

Poor head control (HP:0002421)

Progressive muscle weakness (HP:0003323)

Proximal muscle weakness (HP:0003701)

Scapuloperoneal weakness (HP:0003704)

Weakness of muscles of respiration (HP:0004347)

Weakness of orbicularis oculi muscle (HP:0012507)

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:0031374	HP:0031374	Ankle weakness	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0031374	HP:0031374	Ankle weakness	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	1
HP:0031374	HP:0031374	Ankle weakness	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040283 - Occasional	105
HP:0031374	HP:0031374	Ankle weakness	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	74
HP:0031374	HP:0031374	Ankle weakness	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	53
HP:0031374	HP:0031374	Ankle weakness	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	88
HP:0031374	HP:0031374	Ankle weakness	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	139
HP:0031374	HP:0031374	Ankle weakness	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0031374	HP:0031374	Ankle weakness	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	91
HP:0031374	HP:0031374	Ankle weakness	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040283 - Occasional	286
HP:0031374	HP:0031374	Ankle weakness	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	124
HP:0031374	HP:0031374	Ankle weakness	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80
HP:0031374	HP:0031374	Ankle weakness	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	72
HP:0031374	HP:0031374	Ankle weakness	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	73
HP:0031374	HP:0031374	Ankle weakness	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	263
HP:0031374	HP:0031374	Ankle weakness	0	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent	7128

Genes (16) :AGRN AK9 BSCL2 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DOK7 LDB3 LRP4 MATR3 MUSK RAPSN SCN4A TTN

Diseases (5) :ORPHA:98913 ORPHA:100998 ORPHA:98912 ORPHA:600 ORPHA:609

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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