Human Phenotype Ontology 
Grandparent Node:
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Abnormality of musculoskeletal physiology (HP:0011843)help
Grandparent Node:
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Pain (HP:0012531)help
Parent Node:
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Limb pain (HP:0009763)help
..Starting node
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Lower limb pain (HP:0012514)help
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: 
..expandUpper limb pain (HP:0012513) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012514HP:0012514Lower limb pain0MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0012514HP:0012514Lower limb pain0MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0012514HP:0012514Lower limb pain0PRKRA CL E G H8575210571ORPHA11519438603424
HP:0012514HP:0012514Lower limb pain0PRKRA CL E G H8575210571ORPHA11419438603424
HP:0012514HP:0012514Lower limb pain0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0012514HP:0012514Lower limb pain0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0012514HP:0030839Knee pain1MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0012514HP:0025238Foot pain1MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0012514HP:0030840Ankle pain1MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0012514HP:0030841Toe pain1MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0012514HP:0025238Foot pain1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0012514HP:0030840Ankle pain1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0012514HP:0030841Toe pain1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0012514HP:0030839Knee pain1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0012514HP:0025238Foot pain1PRKRA CL E G H8575210571ORPHA11519438603424
HP:0012514HP:0025238Foot pain1PRKRA CL E G H8575210571ORPHA11419438603424
HP:0012514HP:0030841Toe pain1PRKRA CL E G H8575210571ORPHA11519438603424
HP:0012514HP:0030840Ankle pain1PRKRA CL E G H8575210571ORPHA11519438603424
HP:0012514HP:0030839Knee pain1PRKRA CL E G H8575210571ORPHA11519438603424
HP:0012514HP:0030841Toe pain1PRKRA CL E G H8575210571ORPHA11419438603424
HP:0012514HP:0030840Ankle pain1PRKRA CL E G H8575210571ORPHA11419438603424
HP:0012514HP:0030839Knee pain1PRKRA CL E G H8575210571ORPHA11419438603424
HP:0012514HP:0030840Ankle pain1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0012514HP:0030839Knee pain1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0012514HP:0030841Toe pain1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0012514HP:0030840Ankle pain1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0012514HP:0030839Knee pain1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0012514HP:0030841Toe pain1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0012514HP:0025238Foot pain1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0012514HP:0025238Foot pain1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0012514HP:0032102Wilson sign2MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0012514HP:0032102Wilson sign2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0012514HP:0032102Wilson sign2PRKRA CL E G H8575210571ORPHA11519438603424
HP:0012514HP:0032102Wilson sign2PRKRA CL E G H8575210571ORPHA11419438603424
HP:0012514HP:0032102Wilson sign2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0012514HP:0032102Wilson sign2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012514HP:0012514Lower limb pain0ALDH18A1 CL E G H5832447753ORPHA03929722138250
HP:0012514HP:0012514Lower limb pain0ALDH18A1 CL E G H5832447753ORPHA03469722138250
HP:0012514HP:0012514Lower limb pain0ERLIN1 CL E G H10613401785ORPHA08416947611604
HP:0012514HP:0012514Lower limb pain0ERLIN1 CL E G H10613401785ORPHA05916947611604
HP:0012514HP:0012514Lower limb pain0SPG7 CL E G H668799013ORPHA072611237602783
HP:0012514HP:0012514Lower limb pain0SPG7 CL E G H668799013ORPHA064811237602783
HP:0012514HP:0012514Lower limb pain0TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM012811766190180
HP:0012514HP:0012514Lower limb pain0TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM07411766190180
HP:0012514HP:0030840Ankle pain1ALDH18A1 CL E G H5832447753ORPHA03929722138250
HP:0012514HP:0030839Knee pain1ALDH18A1 CL E G H5832447753ORPHA03929722138250
HP:0012514HP:0030841Toe pain1ALDH18A1 CL E G H5832447753ORPHA03929722138250
HP:0012514HP:0030840Ankle pain1ALDH18A1 CL E G H5832447753ORPHA03469722138250
HP:0012514HP:0030839Knee pain1ALDH18A1 CL E G H5832447753ORPHA03469722138250
HP:0012514HP:0030841Toe pain1ALDH18A1 CL E G H5832447753ORPHA03469722138250
HP:0012514HP:0025238Foot pain1ALDH18A1 CL E G H5832447753ORPHA03929722138250
HP:0012514HP:0025238Foot pain1ALDH18A1 CL E G H5832447753ORPHA03469722138250
HP:0012514HP:0030841Toe pain1ERLIN1 CL E G H10613401785ORPHA08416947611604
HP:0012514HP:0030840Ankle pain1ERLIN1 CL E G H10613401785ORPHA08416947611604
HP:0012514HP:0030839Knee pain1ERLIN1 CL E G H10613401785ORPHA08416947611604
HP:0012514HP:0030841Toe pain1ERLIN1 CL E G H10613401785ORPHA05916947611604
HP:0012514HP:0030840Ankle pain1ERLIN1 CL E G H10613401785ORPHA05916947611604
HP:0012514HP:0030839Knee pain1ERLIN1 CL E G H10613401785ORPHA05916947611604
HP:0012514HP:0025238Foot pain1ERLIN1 CL E G H10613401785ORPHA08416947611604
HP:0012514HP:0025238Foot pain1ERLIN1 CL E G H10613401785ORPHA05916947611604
HP:0012514HP:0025238Foot pain1SPG7 CL E G H668799013ORPHA072611237602783
HP:0012514HP:0025238Foot pain1SPG7 CL E G H668799013ORPHA064811237602783
HP:0012514HP:0030840Ankle pain1SPG7 CL E G H668799013ORPHA072611237602783
HP:0012514HP:0030839Knee pain1SPG7 CL E G H668799013ORPHA072611237602783
HP:0012514HP:0030841Toe pain1SPG7 CL E G H668799013ORPHA072611237602783
HP:0012514HP:0030840Ankle pain1SPG7 CL E G H668799013ORPHA064811237602783
HP:0012514HP:0030839Knee pain1SPG7 CL E G H668799013ORPHA064811237602783
HP:0012514HP:0030841Toe pain1SPG7 CL E G H668799013ORPHA064811237602783
HP:0012514HP:0030840Ankle pain1TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM012811766190180
HP:0012514HP:0030839Knee pain1TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM012811766190180
HP:0012514HP:0030841Toe pain1TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM012811766190180
HP:0012514HP:0030840Ankle pain1TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM07411766190180
HP:0012514HP:0030839Knee pain1TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM07411766190180
HP:0012514HP:0030841Toe pain1TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM07411766190180
HP:0012514HP:0025238Foot pain1TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM012811766190180
HP:0012514HP:0025238Foot pain1TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM07411766190180
HP:0012514HP:0032102Wilson sign2ALDH18A1 CL E G H5832447753ORPHA03929722138250
HP:0012514HP:0032102Wilson sign2ALDH18A1 CL E G H5832447753ORPHA03469722138250
HP:0012514HP:0032102Wilson sign2ERLIN1 CL E G H10613401785ORPHA08416947611604
HP:0012514HP:0032102Wilson sign2ERLIN1 CL E G H10613401785ORPHA05916947611604
HP:0012514HP:0032102Wilson sign2SPG7 CL E G H668799013ORPHA072611237602783
HP:0012514HP:0032102Wilson sign2SPG7 CL E G H668799013ORPHA064811237602783
HP:0012514HP:0032102Wilson sign2TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM012811766190180
HP:0012514HP:0032102Wilson sign2TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM07411766190180


Genes (11) :ALDH18A1 ATP6 BSCL2 ERLIN1 MFN2 MT-ATP6 MT-TK PRKRA SPG7 TGFB1 TRNK

Diseases (10) :447753 320360 401785 210571 612067 99013 131300 1349 100998 99947
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.