Human Phenotype Ontology

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:0009763	HP:0009763	Limb pain	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia		16
HP:0009763	HP:0009763	Limb pain	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0009763	HP:0009763	Limb pain	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	71
HP:0009763	HP:0009763	Limb pain	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	5
HP:0009763	HP:0009763	Limb pain	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0009763	HP:0009763	Limb pain	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis		8
HP:0009763	HP:0009763	Limb pain	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17		105
HP:0009763	HP:0009763	Limb pain	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0009763	HP:0009763	Limb pain	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0009763	HP:0009763	Limb pain	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0009763	HP:0009763	Limb pain	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita		284
HP:0009763	HP:0009763	Limb pain	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent	284
HP:0009763	HP:0009763	Limb pain	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0009763	HP:0009763	Limb pain	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0009763	HP:0009763	Limb pain	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0009763	HP:0009763	Limb pain	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0009763	HP:0009763	Limb pain	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0009763	HP:0009763	Limb pain	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0009763	HP:0009763	Limb pain	0	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy		137
HP:0009763	HP:0009763	Limb pain	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		137
HP:0009763	HP:0009763	Limb pain	0	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2		89
HP:0009763	HP:0009763	Limb pain	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1		89
HP:0009763	HP:0009763	Limb pain	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1		89
HP:0009763	HP:0009763	Limb pain	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040282 - Frequent	72
HP:0009763	HP:0009763	Limb pain	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62		2
HP:0009763	HP:0009763	Limb pain	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0009763	HP:0009763	Limb pain	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor		8
HP:0009763	HP:0009763	Limb pain	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent	9
HP:0009763	HP:0009763	Limb pain	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0009763	HP:0009763	Limb pain	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0009763	HP:0009763	Limb pain	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0009763	HP:0009763	Limb pain	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040282 - Frequent	81
HP:0009763	HP:0009763	Limb pain	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0009763	HP:0009763	Limb pain	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0009763	HP:0009763	Limb pain	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0009763	HP:0009763	Limb pain	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex		110
HP:0009763	HP:0009763	Limb pain	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita		27
HP:0009763	HP:0009763	Limb pain	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita		23
HP:0009763	HP:0009763	Limb pain	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex		173
HP:0009763	HP:0009763	Limb pain	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita		41
HP:0009763	HP:0009763	Limb pain	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita		4
HP:0009763	HP:0009763	Limb pain	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0009763	HP:0009763	Limb pain	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0009763	HP:0009763	Limb pain	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0009763	HP:0009763	Limb pain	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5		32
HP:0009763	HP:0009763	Limb pain	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2		203
HP:0009763	HP:0009763	Limb pain	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0009763	HP:0009763	Limb pain	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0009763	HP:0009763	Limb pain	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.	37
HP:0009763	HP:0009763	Limb pain	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16		37
HP:0009763	HP:0009763	Limb pain	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0009763	HP:0009763	Limb pain	0	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0009763	HP:0009763	Limb pain	0	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0009763	HP:0009763	Limb pain	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7		171
HP:0009763	HP:0009763	Limb pain	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	54
HP:0009763	HP:0009763	Limb pain	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	149
HP:0009763	HP:0009763	Limb pain	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0009763	HP:0009763	Limb pain	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0009763	HP:0009763	Limb pain	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional	46
HP:0009763	HP:0009763	Limb pain	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0009763	HP:0009763	Limb pain	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0009763	HP:0009763	Limb pain	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	490
HP:0009763	HP:0012514	Lower limb pain	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0009763	HP:0012514	Lower limb pain	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0009763	HP:0012514	Lower limb pain	1	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040281 - Very frequent
HP:0009763	HP:0012513	Upper limb pain	1	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis		8
HP:0009763	HP:0012514	Lower limb pain	1	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis		8
HP:0009763	HP:0012514	Lower limb pain	1	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17		105
HP:0009763	HP:0012514	Lower limb pain	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0009763	HP:0012514	Lower limb pain	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita		284
HP:0009763	HP:0012514	Lower limb pain	1	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0009763	HP:0012514	Lower limb pain	1	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0009763	HP:0012514	Lower limb pain	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0009763	HP:0012514	Lower limb pain	1	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0009763	HP:0012514	Lower limb pain	1	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy		137
HP:0009763	HP:0012514	Lower limb pain	1	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		137
HP:0009763	HP:0012513	Upper limb pain	1	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2		89
HP:0009763	HP:0012514	Lower limb pain	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1		89
HP:0009763	HP:0012514	Lower limb pain	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1		89
HP:0009763	HP:0012514	Lower limb pain	1	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040283 - Occasional	2
HP:0009763	HP:0012514	Lower limb pain	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0009763	HP:0012513	Upper limb pain	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional	8
HP:0009763	HP:0012514	Lower limb pain	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0009763	HP:0012514	Lower limb pain	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0009763	HP:0012514	Lower limb pain	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0009763	HP:0012514	Lower limb pain	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0009763	HP:0012514	Lower limb pain	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0009763	HP:0012513	Upper limb pain	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0009763	HP:0012513	Upper limb pain	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040282 - Frequent	110
HP:0009763	HP:0012514	Lower limb pain	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex		110
HP:0009763	HP:0012514	Lower limb pain	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	27
HP:0009763	HP:0012514	Lower limb pain	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	23
HP:0009763	HP:0012514	Lower limb pain	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex		173
HP:0009763	HP:0012513	Upper limb pain	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040282 - Frequent	173
HP:0009763	HP:0012514	Lower limb pain	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	41
HP:0009763	HP:0012514	Lower limb pain	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	4
HP:0009763	HP:0012514	Lower limb pain	1	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0009763	HP:0012514	Lower limb pain	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0009763	HP:0012514	Lower limb pain	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0009763	HP:0012513	Upper limb pain	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0009763	HP:0012514	Lower limb pain	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5		32
HP:0009763	HP:0012514	Lower limb pain	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2		203
HP:0009763	HP:0012513	Upper limb pain	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional	203
HP:0009763	HP:0012514	Lower limb pain	1	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0009763	HP:0012514	Lower limb pain	1	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0009763	HP:0012514	Lower limb pain	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.	37
HP:0009763	HP:0012514	Lower limb pain	1	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040282 - Frequent	37
HP:0009763	HP:0012514	Lower limb pain	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional	88
HP:0009763	HP:0012514	Lower limb pain	1	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0009763	HP:0012514	Lower limb pain	1	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0009763	HP:0012514	Lower limb pain	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040284 - Very rare	171
HP:0009763	HP:0012514	Lower limb pain	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0009763	HP:0012514	Lower limb pain	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0009763	HP:0012514	Lower limb pain	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda		46
HP:0009763	HP:0012514	Lower limb pain	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040282 - Frequent
HP:0009763	HP:0030841	Toe pain	2	CL E G H
HP:0009763	HP:0030835	Elbow pain	2	CL E G H
HP:0009763	HP:0030839	Knee pain	2	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional	8
HP:0009763	HP:0030836	Wrist pain	2	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional	8
HP:0009763	HP:0030839	Knee pain	2	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040283 - Occasional	105
HP:0009763	HP:0030839	Knee pain	2	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent	284
HP:0009763	HP:0030839	Knee pain	2	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional	284
HP:0009763	HP:0030839	Knee pain	2	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0009763	HP:0030839	Knee pain	2	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent	110
HP:0009763	HP:0030839	Knee pain	2	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0009763	HP:0025238	Foot pain	2	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0009763	HP:0030839	Knee pain	2	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent	110
HP:0009763	HP:0030839	Knee pain	2	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy		137
HP:0009763	HP:0030839	Knee pain	2	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent	137
HP:0009763	HP:0046505	Hand pain	2	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2		89
HP:0009763	HP:0030840	Ankle pain	2	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1		89
HP:0009763	HP:0030839	Knee pain	2	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040282 - Frequent	89
HP:0009763	HP:0030840	Ankle pain	2	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040283 - Occasional	89
HP:0009763	HP:0030839	Knee pain	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0009763	HP:0030839	Knee pain	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0009763	HP:0030839	Knee pain	2	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0009763	HP:0030840	Ankle pain	2	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0009763	HP:0046505	Hand pain	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0009763	HP:0025238	Foot pain	2	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	110
HP:0009763	HP:0025238	Foot pain	2	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	173
HP:0009763	HP:0030840	Ankle pain	2	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0009763	HP:0030839	Knee pain	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0009763	HP:0030840	Ankle pain	2	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0009763	HP:0030836	Wrist pain	2	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0009763	HP:0030839	Knee pain	2	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040282 - Frequent	32
HP:0009763	HP:0030840	Ankle pain	2	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040283 - Occasional	32
HP:0009763	HP:0025238	Foot pain	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent	203
HP:0009763	HP:0030839	Knee pain	2	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0009763	HP:0030839	Knee pain	2	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0009763	HP:0030839	Knee pain	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0009763	HP:0030839	Knee pain	2	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent	46
HP:0009763	HP:0032102	Wilson sign	3	CL E G H
HP:0009763	HP:0030837	Finger pain	3	CL E G H