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:
Abnormal musculoskeletal physiology (HP:0011843)

Grandparent Node:
Pain (HP:0012531)

Parent Node:
Limb pain (HP:0009763)

..Starting node
..Lower limb pain (HP:0012514)

Term ID:

12514

Name:

Lower limb pain

Synonym:

Leg pain; Lower limb pain

Definition:

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.

Comments:

Reference:

HP:0012514

Genes and Diseases:

Child Nodes:

Sister Nodes:

Upper limb pain (HP:0012513)

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:0012514	HP:0012514	Lower limb pain	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0012514	HP:0012514	Lower limb pain	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0012514	HP:0012514	Lower limb pain	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040281 - Very frequent
HP:0012514	HP:0012514	Lower limb pain	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis		8
HP:0012514	HP:0012514	Lower limb pain	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17		105
HP:0012514	HP:0012514	Lower limb pain	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0012514	HP:0012514	Lower limb pain	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita		284
HP:0012514	HP:0012514	Lower limb pain	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0012514	HP:0012514	Lower limb pain	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0012514	HP:0012514	Lower limb pain	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0012514	HP:0012514	Lower limb pain	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0012514	HP:0012514	Lower limb pain	0	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy		137
HP:0012514	HP:0012514	Lower limb pain	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		137
HP:0012514	HP:0012514	Lower limb pain	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1		89
HP:0012514	HP:0012514	Lower limb pain	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1		89
HP:0012514	HP:0012514	Lower limb pain	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040283 - Occasional	2
HP:0012514	HP:0012514	Lower limb pain	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0012514	HP:0012514	Lower limb pain	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0012514	HP:0012514	Lower limb pain	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0012514	HP:0012514	Lower limb pain	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0012514	HP:0012514	Lower limb pain	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0012514	HP:0012514	Lower limb pain	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0012514	HP:0012514	Lower limb pain	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex		110
HP:0012514	HP:0012514	Lower limb pain	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	27
HP:0012514	HP:0012514	Lower limb pain	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	23
HP:0012514	HP:0012514	Lower limb pain	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex		173
HP:0012514	HP:0012514	Lower limb pain	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	41
HP:0012514	HP:0012514	Lower limb pain	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	4
HP:0012514	HP:0012514	Lower limb pain	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0012514	HP:0012514	Lower limb pain	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0012514	HP:0012514	Lower limb pain	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0012514	HP:0012514	Lower limb pain	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5		32
HP:0012514	HP:0012514	Lower limb pain	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2		203
HP:0012514	HP:0012514	Lower limb pain	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0012514	HP:0012514	Lower limb pain	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0012514	HP:0012514	Lower limb pain	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.	37
HP:0012514	HP:0012514	Lower limb pain	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040282 - Frequent	37
HP:0012514	HP:0012514	Lower limb pain	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional	88
HP:0012514	HP:0012514	Lower limb pain	0	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0012514	HP:0012514	Lower limb pain	0	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0012514	HP:0012514	Lower limb pain	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040284 - Very rare	171
HP:0012514	HP:0012514	Lower limb pain	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0012514	HP:0012514	Lower limb pain	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0012514	HP:0012514	Lower limb pain	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda		46
HP:0012514	HP:0012514	Lower limb pain	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040282 - Frequent
HP:0012514	HP:0030841	Toe pain	1	CL E G H
HP:0012514	HP:0030839	Knee pain	1	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional	8
HP:0012514	HP:0030839	Knee pain	1	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040283 - Occasional	105
HP:0012514	HP:0030839	Knee pain	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent	284
HP:0012514	HP:0030839	Knee pain	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional	284
HP:0012514	HP:0030839	Knee pain	1	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0012514	HP:0030839	Knee pain	1	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent	110
HP:0012514	HP:0030839	Knee pain	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0012514	HP:0025238	Foot pain	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0012514	HP:0030839	Knee pain	1	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent	110
HP:0012514	HP:0030839	Knee pain	1	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy		137
HP:0012514	HP:0030839	Knee pain	1	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent	137
HP:0012514	HP:0030840	Ankle pain	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1		89
HP:0012514	HP:0030839	Knee pain	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040282 - Frequent	89
HP:0012514	HP:0030840	Ankle pain	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040283 - Occasional	89
HP:0012514	HP:0030839	Knee pain	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0012514	HP:0030839	Knee pain	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0012514	HP:0030839	Knee pain	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0012514	HP:0030840	Ankle pain	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0012514	HP:0025238	Foot pain	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	110
HP:0012514	HP:0025238	Foot pain	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	173
HP:0012514	HP:0030840	Ankle pain	1	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0012514	HP:0030839	Knee pain	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0012514	HP:0030840	Ankle pain	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0012514	HP:0030839	Knee pain	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040282 - Frequent	32
HP:0012514	HP:0030840	Ankle pain	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040283 - Occasional	32
HP:0012514	HP:0025238	Foot pain	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent	203
HP:0012514	HP:0030839	Knee pain	1	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0012514	HP:0030839	Knee pain	1	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0012514	HP:0030839	Knee pain	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0012514	HP:0030839	Knee pain	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent	46
HP:0012514	HP:0032102	Wilson sign	2	CL E G H

Genes (38) :ACP5 ALDH18A1 ATP6 B2M BSCL2 COL2A1 COL9A1 COL9A2 COL9A3 COMP ERLIN1 FAR1 GJB2 GJB6 HEPHL1 HTRA1 HYAL1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B LEMD3 LMX1B MAFB MATN3 MFN2 MME NLRP12 PRKRA RASA1 SLCO2A1 SPG7 TGFB1 TONSL TRAPPC2 TRNK

Diseases (37) :ORPHA:1855 ORPHA:447753 ORPHA:320360 ORPHA:314652 ORPHA:100998 ORPHA:166011 ORPHA:94068 OMIM:614135 ORPHA:166002 OMIM:600204 OMIM:600969 OMIM:132400 ORPHA:93308 ORPHA:401785 ORPHA:477 OMIM:261990 ORPHA:199354 OMIM:601492 ORPHA:79400 ORPHA:2309 ORPHA:166119 ORPHA:2614 OMIM:166300 ORPHA:93311 ORPHA:99947 OMIM:617018 OMIM:611762 OMIM:612067 ORPHA:210571 ORPHA:90307 OMIM:167100 OMIM:614441 ORPHA:99013 OMIM:131300 ORPHA:93357 ORPHA:93284 ORPHA:1349

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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