Human Phenotype Ontology 
Grandparent Node:
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Constitutional symptom (HP:0025142)help
Parent Node:
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Pain (HP:0012531)help
..Starting node
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Knee pain (HP:0030839)help
Term ID: 30839
Name: Knee pain
Synonym: Knee pain; Pain under knee cap
Definition: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.
Comments:
Reference: HP:0030839
Genes and Diseases:
 
       Child Nodes:

 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
..expandLimb pain (HP:0009763) 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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030839HP:0030839Knee pain0B2M CL E G H567914ORPHA:314652Variant ABeta2M amyloidosisHP:0040283 - Occasional8
HP:0030839HP:0030839Knee pain0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17HP:0040283 - Occasional105
HP:0030839HP:0030839Knee pain0COL2A1 CL E G H12802200ORPHA:166011Multiple epiphyseal dysplasia, Beighton typeHP:0040282 - Frequent284
HP:0030839HP:0030839Knee pain0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenitaHP:0040283 - Occasional284
HP:0030839HP:0030839Knee pain0COL9A1 CL E G H12972217OMIM:614135Epiphyseal dysplasia, multiple, 6110
HP:0030839HP:0030839Knee pain0COL9A1 CL E G H12972217ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomalyHP:0040282 - Frequent110
HP:0030839HP:0030839Knee pain0COL9A2 CL E G H12982218OMIM:600204Epiphyseal dysplasia, multiple, 2110
HP:0030839HP:0030839Knee pain0COL9A2 CL E G H12982218ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomalyHP:0040282 - Frequent110
HP:0030839HP:0030839Knee pain0COL9A3 CL E G H12992219OMIM:600969Epiphyseal dysplasia, multiple, 3, with or without myopathy137
HP:0030839HP:0030839Knee pain0COL9A3 CL E G H12992219ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomalyHP:0040282 - Frequent137
HP:0030839HP:0030839Knee pain0COMP CL E G H13112227ORPHA:93308Multiple epiphyseal dysplasia type 1HP:0040282 - Frequent89
HP:0030839HP:0030839Knee pain0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0030839HP:0030839Knee pain0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0030839HP:0030839Knee pain0HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0030839HP:0030839Knee pain0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0030839HP:0030839Knee pain0MATN3 CL E G H41486909ORPHA:93311Multiple epiphyseal dysplasia type 5HP:0040282 - Frequent32
HP:0030839HP:0030839Knee pain0SLCO2A1 CL E G H657810955OMIM:167100Hypertrophic osteoarthropathy, primary, autosomal dominant13
HP:0030839HP:0030839Knee pain0SLCO2A1 CL E G H657810955OMIM:614441Hypertrophic osteoarthropathy, primary, autosomal recessive 213
HP:0030839HP:0030839Knee pain0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0030839HP:0030839Knee pain0TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tardaHP:0040282 - Frequent46
HP:0030839HP:0032102Wilson sign1 CL E G H


Genes (15) :B2M BSCL2 COL2A1 COL9A1 COL9A2 COL9A3 COMP GJB2 GJB6 HYAL1 LMX1B MATN3 SLCO2A1 TONSL TRAPPC2

Diseases (17) :ORPHA:314652 ORPHA:100998 ORPHA:166011 ORPHA:94068 OMIM:614135 ORPHA:166002 OMIM:600204 OMIM:600969 ORPHA:93308 ORPHA:477 OMIM:601492 ORPHA:2614 ORPHA:93311 OMIM:167100 OMIM:614441 ORPHA:93357 ORPHA:93284
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.