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: |
..Abdominal pain (HP:0002027)
|
..Allodynia (HP:0012533)
|
..Anal pain (HP:0500005)
|
..Ankle pain (HP:0030840)
|
..Arthralgia (HP:0002829)
|
..Back pain (HP:0003418)
|
..Bone pain (HP:0002653)
|
..Chest pain (HP:0100749)
|
..Chronic pain (HP:0012532)
|
..Costochondral pain (HP:0006649)
|
..Ear pain (HP:0030766)
|
..Elbow pain (HP:0030835)
|
..Epigastric pain (HP:0410019)
|
..Finger pain (HP:0030837)
|
..Flank pain (HP:0030157)
|
..Foot pain (HP:0025238)
|
..Groin pain (HP:0031520)
|
..Hip pain (HP:0030838)
|
..Jaw pain (HP:0040264)
|
..Limb pain (HP:0009763)
|
..Mandibular pain (HP:0200025)
|
..Myalgia (HP:0003326)
|
..Neck pain (HP:0030833)
|
..Ocular pain (HP:0200026)
|
..Scrotal pain (HP:0030155)
|
..Shoulder pain (HP:0030834)
|
..Toe pain (HP:0030841)
|
..Vulvodynia (HP:0030943)
|
..Wrist pain (HP:0030836)
|
Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0030839 | HP:0030839 | Knee pain | 0 | B2M CL E G H | 567 | 914 | ORPHA:314652 | Variant ABeta2M amyloidosis | HP:0040283 - Occasional | | | 8 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:100998 | Autosomal dominant spastic paraplegia type 17 | HP:0040283 - Occasional | | | 105 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:166011 | Multiple epiphyseal dysplasia, Beighton type | HP:0040282 - Frequent | | | 284 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:94068 | Spondyloepiphyseal dysplasia congenita | HP:0040283 - Occasional | | | 284 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614135 | Epiphyseal dysplasia, multiple, 6 | | | | 110 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040282 - Frequent | | | 110 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | COL9A2 CL E G H | 1298 | 2218 | OMIM:600204 | Epiphyseal dysplasia, multiple, 2 | | | | 110 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040282 - Frequent | | | 110 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | COL9A3 CL E G H | 1299 | 2219 | OMIM:600969 | Epiphyseal dysplasia, multiple, 3, with or without myopathy | | | | 137 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040282 - Frequent | | | 137 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | COMP CL E G H | 1311 | 2227 | ORPHA:93308 | Multiple epiphyseal dysplasia type 1 | HP:0040282 - Frequent | | | 89 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | HYAL1 CL E G H | 3373 | 5320 | OMIM:601492 | Mucopolysaccharidosis type IX | | | | 28 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | MATN3 CL E G H | 4148 | 6909 | ORPHA:93311 | Multiple epiphyseal dysplasia type 5 | HP:0040282 - Frequent | | | 32 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:167100 | Hypertrophic osteoarthropathy, primary, autosomal dominant | | | | 13 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:614441 | Hypertrophic osteoarthropathy, primary, autosomal recessive 2 | | | | 13 | | | HP:0030839 | HP:0030839 | Knee pain | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | | HP:0030839 | HP:0030839 | Knee pain | 0 | TRAPPC2 CL E G H | 6399 | 23068 | ORPHA:93284 | Spondyloepiphyseal dysplasia tarda | HP:0040282 - Frequent | | | 46 | | | HP:0030839 | HP:0032102 | Wilson sign | 1 | 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.
|