Human Phenotype Ontology 
Grandparent Node:
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Constitutional symptom (HP:0025142)help
Parent Node:
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Abnormality of musculoskeletal physiology (HP:0011843)help
Parent Node:
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Pain (HP:0012531)help
..Starting node
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Limb pain (HP:0009763)help
Term ID: 9763
Name: Limb pain
Synonym: Limb pain; Pain in extremities
Definition: Chronic pain in the limbs with no clear focal etiology.
Comments:
Reference: HP:0009763
Genes and Diseases:
 
       Child Nodes:
........expandUpper limb pain (HP:0012513) help
........expandLower limb pain (HP:0012514) help

 Sister Nodes: 
..expandAbdominal pain (HP:0002027) help
..expandAllodynia (HP:0012533) help
..expandAnal pain (HP:0500005) help
..expandAnkle pain (HP:0030840) help
..expandArthralgia (HP:0002829) help
..expandBack pain (HP:0003418) help
..expandBone pain (HP:0002653) help
..expandChest pain (HP:0100749) help
..expandChronic pain (HP:0012532) help
..expandCostochondral pain (HP:0006649) help
..expandEar pain (HP:0030766) help
..expandElbow pain (HP:0030835) help
..expandEpigastric pain (HP:0410019) help
..expandFinger pain (HP:0030837) help
..expandFlank pain (HP:0030157) help
..expandFoot pain (HP:0025238) help
..expandGroin pain (HP:0031520) help
..expandHip pain (HP:0030838) help
..expandJaw pain (HP:0040264) help
..expandKnee pain (HP:0030839) help
..expandMandibular pain (HP:0200025) help
..expandMyalgia (HP:0003326) help
..expandNeck pain (HP:0030833) help
..expandOcular pain (HP:0200026) help
..expandScrotal pain (HP:0030155) help
..expandShoulder pain (HP:0030834) help
..expandToe pain (HP:0030841) help
..expandVulvodynia (HP:0030943) help
..expandWrist pain (HP:0030836) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009763HP:0009763Limb pain0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0009763HP:0009763Limb pain0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0009763HP:0009763Limb pain0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0009763HP:0009763Limb pain0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0009763HP:0009763Limb pain0TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM17411766190180
HP:0009763HP:0009763Limb pain0TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM112811766190180
HP:0009763HP:0009763Limb pain0TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM119812269606609
HP:0009763HP:0009763Limb pain0TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM128912269606609
HP:0009763HP:0012513Upper limb pain1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0009763HP:0012514Lower limb pain1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0009763HP:0012513Upper limb pain1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0009763HP:0012514Lower limb pain1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0009763HP:0012514Lower limb pain1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0009763HP:0012513Upper limb pain1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0009763HP:0012514Lower limb pain1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0009763HP:0012513Upper limb pain1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0009763HP:0012513Upper limb pain1TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM112811766190180
HP:0009763HP:0012514Lower limb pain1TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM112811766190180
HP:0009763HP:0012513Upper limb pain1TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM17411766190180
HP:0009763HP:0012514Lower limb pain1TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM17411766190180
HP:0009763HP:0012514Lower limb pain1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM128912269606609
HP:0009763HP:0012513Upper limb pain1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM128912269606609
HP:0009763HP:0012513Upper limb pain1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM119812269606609
HP:0009763HP:0012514Lower limb pain1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM119812269606609
HP:0009763HP:0030841Toe pain2MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0009763HP:0030835Elbow pain2MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0009763HP:0030840Ankle pain2MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0009763HP:0030839Knee pain2MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0009763HP:0046505Hand pain2MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0009763HP:0030836Wrist pain2MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0009763HP:0025238Foot pain2MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0009763HP:0046505Hand pain2MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0009763HP:0030836Wrist pain2MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0009763HP:0025238Foot pain2MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0009763HP:0030841Toe pain2MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0009763HP:0030835Elbow pain2MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0009763HP:0030840Ankle pain2MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0009763HP:0030839Knee pain2MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0009763HP:0030840Ankle pain2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0009763HP:0030839Knee pain2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0009763HP:0030841Toe pain2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0009763HP:0030835Elbow pain2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0009763HP:0046505Hand pain2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0009763HP:0030836Wrist pain2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0009763HP:0025238Foot pain2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0009763HP:0046505Hand pain2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0009763HP:0030836Wrist pain2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0009763HP:0025238Foot pain2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0009763HP:0030835Elbow pain2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0009763HP:0030840Ankle pain2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0009763HP:0030839Knee pain2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0009763HP:0030841Toe pain2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0009763HP:0030841Toe pain2TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM17411766190180
HP:0009763HP:0030835Elbow pain2TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM17411766190180
HP:0009763HP:0030840Ankle pain2TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM17411766190180
HP:0009763HP:0030839Knee pain2TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM17411766190180
HP:0009763HP:0046505Hand pain2TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM112811766190180
HP:0009763HP:0030836Wrist pain2TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM112811766190180
HP:0009763HP:0025238Foot pain2TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM112811766190180
HP:0009763HP:0046505Hand pain2TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM17411766190180
HP:0009763HP:0030836Wrist pain2TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM17411766190180
HP:0009763HP:0025238Foot pain2TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM17411766190180
HP:0009763HP:0030839Knee pain2TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM112811766190180
HP:0009763HP:0030841Toe pain2TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM112811766190180
HP:0009763HP:0030835Elbow pain2TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM112811766190180
HP:0009763HP:0030840Ankle pain2TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM112811766190180
HP:0009763HP:0030840Ankle pain2TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM119812269606609
HP:0009763HP:0030839Knee pain2TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM119812269606609
HP:0009763HP:0030841Toe pain2TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM119812269606609
HP:0009763HP:0030835Elbow pain2TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM119812269606609
HP:0009763HP:0030836Wrist pain2TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM128912269606609
HP:0009763HP:0025238Foot pain2TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM128912269606609
HP:0009763HP:0046505Hand pain2TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM128912269606609
HP:0009763HP:0030836Wrist pain2TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM119812269606609
HP:0009763HP:0025238Foot pain2TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM119812269606609
HP:0009763HP:0046505Hand pain2TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM119812269606609
HP:0009763HP:0030840Ankle pain2TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM128912269606609
HP:0009763HP:0030839Knee pain2TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM128912269606609
HP:0009763HP:0030841Toe pain2TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM128912269606609
HP:0009763HP:0030835Elbow pain2TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM128912269606609
HP:0009763HP:0030837Finger pain3MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0009763HP:0032102Wilson sign3MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0009763HP:0032102Wilson sign3MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0009763HP:0030837Finger pain3MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0009763HP:0030837Finger pain3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0009763HP:0032102Wilson sign3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0009763HP:0032102Wilson sign3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0009763HP:0030837Finger pain3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0009763HP:0030837Finger pain3TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM17411766190180
HP:0009763HP:0032102Wilson sign3TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM112811766190180
HP:0009763HP:0032102Wilson sign3TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM17411766190180
HP:0009763HP:0030837Finger pain3TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM112811766190180
HP:0009763HP:0030837Finger pain3TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM119812269606609
HP:0009763HP:0032102Wilson sign3TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM128912269606609
HP:0009763HP:0032102Wilson sign3TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM119812269606609
HP:0009763HP:0030837Finger pain3TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM128912269606609
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (12) :ALDH18A1 ATP6 BSCL2 ERLIN1 FLI1 MFN2 MME PRKRA SPG7 TGFB1 TREX1 TRNK

Diseases (13) :617018 612067 131300 192315 447753 320360 401785 370348 99947 210571 99013 1349 100998
 

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