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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Arthralgia (HP:0002829)help
Term ID: 2829
Name: Arthralgia
Synonym: Arthralgias; Arthritic pain; Joint pain; Joint pains
Definition: Joint pain.
Comments:
Reference: HP:0002829
Genes and Diseases:
 
       Child Nodes:
........expandArthralgia/arthritis (HP:0005059) help

 Sister Nodes: 
..expandAbdominal pain (HP:0002027) help
..expandAllodynia (HP:0012533) help
..expandAnal pain (HP:0500005) help
..expandAnkle pain (HP:0030840) 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
..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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002829HP:0002829Arthralgia0ABCG5 CL E G H64240210250Sitosterolemia210250C0342907OMIM145713886605459
HP:0002829HP:0002829Arthralgia0ABCG8 CL E G H64241210250Sitosterolemia210250C0342907OMIM151813887605460
HP:0002829HP:0002829Arthralgia0AIP CL E G H9049963ORPHA1741358605555
HP:0002829HP:0002829Arthralgia0ANKH CL E G H561721416ORPHA145715492605145
HP:0002829HP:0002829Arthralgia0ANKRD55 CL E G H7972285408ORPHA12125681615189
HP:0002829HP:0002829Arthralgia0ANKRD55 CL E G H7972285410ORPHA12125681615189
HP:0002829HP:0002829Arthralgia0ASAH1 CL E G H427333ORPHA1712735613468
HP:0002829HP:0002829Arthralgia0ATP7B CL E G H540905ORPHA11806870606882
HP:0002829HP:0002829Arthralgia0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1196961605681
HP:0002829HP:0002829Arthralgia0C4A CL E G H720117ORPHA1331323120810
HP:0002829HP:0002829Arthralgia0CAV1 CL E G H857220393ORPHA11151527601047
HP:0002829HP:0002829Arthralgia0CCN2 CL E G H1490220393ORPHA1262500121009
HP:0002829HP:0002829Arthralgia0CCR1 CL E G H1230117ORPHA1201602601159
HP:0002829HP:0002829Arthralgia0CCR6 CL E G H1235220393ORPHA1531607601835
HP:0002829HP:0002829Arthralgia0CD247 CL E G H91985410ORPHA11451677186780
HP:0002829HP:0002829Arthralgia0CD247 CL E G H91985408ORPHA11451677186780
HP:0002829HP:0002829Arthralgia0CHST3 CL E G H9469263463ORPHA13521971603799
HP:0002829HP:0002829Arthralgia0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13521971603799
HP:0002829HP:0002829Arthralgia0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11812586603432
HP:0002829HP:0002829Arthralgia0COL11A1 CL E G H1301560ORPHA116712186120280
HP:0002829HP:0002829Arthralgia0COL11A2 CL E G H1302166100ORPHA112402187120290
HP:0002829HP:0002829Arthralgia0COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM112402187120290
HP:0002829HP:0002829Arthralgia0COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM112402187120290
HP:0002829HP:0002829Arthralgia0COL2A1 CL E G H128090653ORPHA118202200120140
HP:0002829HP:0002829Arthralgia0COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0002829HP:0002829Arthralgia0COL2A1 CL E G H12802380Freiberg's diseaseORPHA118202200120140
HP:0002829HP:0002829Arthralgia0COL2A1 CL E G H1280616583Spondyloepiphyseal dysplasia, stanescu type616583C4225273OMIM118202200120140
HP:0002829HP:0002829Arthralgia0COL9A1 CL E G H1297166002ORPHA18922217120210
HP:0002829HP:0002829Arthralgia0COL9A1 CL E G H1297614135Multiple epiphyseal dysplasia 6614135C2675767OMIM18922217120210
HP:0002829HP:0002829Arthralgia0COL9A2 CL E G H1298166002ORPHA16042218120260
HP:0002829HP:0002829Arthralgia0COL9A3 CL E G H1299166002ORPHA19072219120270
HP:0002829HP:0002829Arthralgia0COMP CL E G H131193308ORPHA14262227600310
HP:0002829HP:0002829Arthralgia0COMP CL E G H1311750ORPHA14262227600310
HP:0002829HP:0002829Arthralgia0COMP CL E G H1311177170Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome177170C0410538OMIM14262227600310
HP:0002829HP:0002829Arthralgia0CTLA4 CL E G H1493900ORPHA11902505123890
HP:0002829HP:0002829Arthralgia0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11192718600811
HP:0002829HP:0002829Arthralgia0DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM125521144605942
HP:0002829HP:0002829Arthralgia0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17633327130160
HP:0002829HP:0002829Arthralgia0EPOR CL E G H205790042ORPHA1883416133171
HP:0002829HP:0002829Arthralgia0ERAP1 CL E G H51752117ORPHA19418173606832
HP:0002829HP:0002829Arthralgia0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA111963434126340
HP:0002829HP:0002829Arthralgia0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA13683435133510
HP:0002829HP:0002829Arthralgia0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA16023436133520
HP:0002829HP:0002829Arthralgia0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14253437133530
HP:0002829HP:0002829Arthralgia0FAS CL E G H355117ORPHA131311920134637
HP:0002829HP:0002829Arthralgia0GLA CL E G H2717324Slti Salem syndromeORPHA110024296300644
HP:0002829HP:0002829Arthralgia0GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM160323026607838
HP:0002829HP:0002829Arthralgia0GPR101 CL E G H83550963ORPHA119414963300393
HP:0002829HP:0002829Arthralgia0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11634659601679
HP:0002829HP:0002829Arthralgia0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12184661604318
HP:0002829HP:0002829Arthralgia0HFE CL E G H3077465508ORPHA11854886613609
HP:0002829HP:0002829Arthralgia0HGD CL E G H308156ORPHA12724892607474
HP:0002829HP:0002829Arthralgia0HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002829HP:0002829Arthralgia0HLA-B CL E G H3106117ORPHA1184932142830
HP:0002829HP:0002829Arthralgia0HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0002829HP:0002829Arthralgia0HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0002829HP:0002829Arthralgia0HLA-DRB1 CL E G H312385414ORPHA1244948142857
HP:0002829HP:0002829Arthralgia0HLA-DRB1 CL E G H3123220393ORPHA1244948142857
HP:0002829HP:0002829Arthralgia0HPGD CL E G H32481525ORPHA11965154601688
HP:0002829HP:0002829Arthralgia0HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA11965154601688
HP:0002829HP:0002829Arthralgia0HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0002829HP:0002829Arthralgia0IL10 CL E G H3586117ORPHA1965962124092
HP:0002829HP:0002829Arthralgia0IL12A CL E G H3592117ORPHA1295969161560
HP:0002829HP:0002829Arthralgia0IL12A-AS1 CL E G H101928376117ORPHA113490940
HP:0002829HP:0002829Arthralgia0IL1RN CL E G H3557612852Osteomyelitis, sterile multifocal, with periostitis and pustulosis612852C2748507OMIM12026000147679
HP:0002829HP:0002829Arthralgia0IL23R CL E G H149233117ORPHA115519100607562
HP:0002829HP:0002829Arthralgia0IL2RA CL E G H355985408ORPHA12656008147730
HP:0002829HP:0002829Arthralgia0IL2RA CL E G H355985410ORPHA12656008147730
HP:0002829HP:0002829Arthralgia0IL2RB CL E G H356085410ORPHA12046009146710
HP:0002829HP:0002829Arthralgia0IL2RB CL E G H356085408ORPHA12046009146710
HP:0002829HP:0002829Arthralgia0IL6 CL E G H356985414ORPHA1406018147620
HP:0002829HP:0002829Arthralgia0IRF5 CL E G H3663220393ORPHA1426120607218
HP:0002829HP:0002829Arthralgia0JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA12936192147796
HP:0002829HP:0002829Arthralgia0KLRC4 CL E G H8302117ORPHA1356377602893
HP:0002829HP:0002829Arthralgia0LACC1 CL E G H14481185414ORPHA16226789613409
HP:0002829HP:0002829Arthralgia0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12016613601329
HP:0002829HP:0002829Arthralgia0LPIN2 CL E G H966377297ORPHA181514450605519
HP:0002829HP:0002829Arthralgia0MAFB CL E G H9935166300Multicentric osteolysis nephropathy166300C2674705OMIM11196408608968
HP:0002829HP:0002829Arthralgia0MATN3 CL E G H414893311ORPHA11976909602109
HP:0002829HP:0002829Arthralgia0MATN3 CL E G H4148607078Multiple epiphyseal dysplasia 5607078C1846843OMIM11976909602109
HP:0002829HP:0002829Arthralgia0MEFV CL E G H4210342ORPHA19156998608107
HP:0002829HP:0002829Arthralgia0MEFV CL E G H4210117ORPHA19156998608107
HP:0002829HP:0002829Arthralgia0MEFV CL E G H4210249100Familial Mediterranean fever249100C0031069OMIM19156998608107
HP:0002829HP:0002829Arthralgia0MEFV CL E G H4210134610Familial mediterranean fever, autosomal dominant134610C1851347OMIM19156998608107
HP:0002829HP:0002829Arthralgia0MFN2 CL E G H99272398Froster Iskenius Waterson syndromeORPHA1106316877608507
HP:0002829HP:0002829Arthralgia0MIF CL E G H428285414ORPHA11227097153620
HP:0002829HP:0002829Arthralgia0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0002829HP:0002829Arthralgia0MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA14477217159530
HP:0002829HP:0002829Arthralgia0MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM18110545607545
HP:0002829HP:0002829Arthralgia0MVK CL E G H4598343ORPHA14707530251170
HP:0002829HP:0002829Arthralgia0MVK CL E G H4598260920Hyperimmunoglobulin D with periodic fever260920C0398691OMIM14707530251170
HP:0002829HP:0002829Arthralgia0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM14707530251170
HP:0002829HP:0002829Arthralgia0NLRC4 CL E G H584841451ORPHA149916412606831
HP:0002829HP:0002829Arthralgia0NLRC4 CL E G H58484616050Autoinflammation with infantile enterocolitis616050C4015067OMIM149916412606831
HP:0002829HP:0002829Arthralgia0NLRC4 CL E G H58484616115Familial cold autoinflammatory syndrome 4616115C4015276OMIM149916412606831
HP:0002829HP:0002829Arthralgia0NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM185722938609648
HP:0002829HP:0002829Arthralgia0NLRP3 CL E G H1145481451ORPHA175216400606416
HP:0002829HP:0002829Arthralgia0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA175216400606416
HP:0002829HP:0002829Arthralgia0NLRP3 CL E G H114548617772DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION617772C4521680OMIM175216400606416
HP:0002829HP:0002829Arthralgia0NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM175216400606416
HP:0002829HP:0002829Arthralgia0NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM175216400606416
HP:0002829HP:0002829Arthralgia0NOD2 CL E G H6412790340ORPHA17435331605956
HP:0002829HP:0002829Arthralgia0NOTCH2 CL E G H4853955ORPHA17507882600275
HP:0002829HP:0002829Arthralgia0OTULIN CL E G H90268617099Autoinflammation, panniculitis, and dermatosis syndrome617099C4310614OMIM140825118615712
HP:0002829HP:0002829Arthralgia0PHEX CL E G H5251307800Familial X-linked hypophosphatemic vitamin D refractory rickets307800C0733682OMIM111608918300550
HP:0002829HP:0002829Arthralgia0PIGT CL E G H51604615399Paroxysmal nocturnal hemoglobinuria 2615399C3809369OMIM116114938610272
HP:0002829HP:0002829Arthralgia0PLCG2 CL E G H5336614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated614878C3553961OMIM19939066600220
HP:0002829HP:0002829Arthralgia0PRKCD CL E G H5580615559Autoimmune lymphoproliferative syndrome, type III615559C3809928OMIM13459399176977
HP:0002829HP:0002829Arthralgia0PRTN3 CL E G H5657900ORPHA1479495177020
HP:0002829HP:0002829Arthralgia0PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM11139541602177
HP:0002829HP:0002829Arthralgia0PSMB8 CL E G H56962615ORPHA11619545177046
HP:0002829HP:0002829Arthralgia0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0002829HP:0002829Arthralgia0PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1169546177045
HP:0002829HP:0002829Arthralgia0PSTPIP1 CL E G H905169126ORPHA14909580606347
HP:0002829HP:0002829Arthralgia0PTH1R CL E G H574579106ORPHA12009608168468
HP:0002829HP:0002829Arthralgia0PTPN2 CL E G H577185408ORPHA1849650176887
HP:0002829HP:0002829Arthralgia0PTPN2 CL E G H577185410ORPHA1849650176887
HP:0002829HP:0002829Arthralgia0PTPN22 CL E G H2619185410ORPHA1349652600716
HP:0002829HP:0002829Arthralgia0PTPN22 CL E G H2619185408ORPHA1349652600716
HP:0002829HP:0002829Arthralgia0PTPN22 CL E G H26191900ORPHA1349652600716
HP:0002829HP:0002829Arthralgia0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11809970600404
HP:0002829HP:0002829Arthralgia0RNU4ATAC CL E G H1001516831824Devriendt Legius Fryns syndromeORPHA121434016601428
HP:0002829HP:0002829Arthralgia0SEPT9 CL E G H108012901Hypogonadotropic hypogonadism-anosmia, X-linkedORPHA14187323604061
HP:0002829HP:0002829Arthralgia0SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM17510778606570
HP:0002829HP:0002829Arthralgia0SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM1102610912600968
HP:0002829HP:0002829Arthralgia0SLC26A2 CL E G H183693307ORPHA154910994606718
HP:0002829HP:0002829Arthralgia0SLC26A2 CL E G H1836226900Multiple epiphyseal dysplasia 4226900C1847593OMIM154910994606718
HP:0002829HP:0002829Arthralgia0SLC40A1 CL E G H30061139491ORPHA120710909604653
HP:0002829HP:0002829Arthralgia0SLC40A1 CL E G H30061606069Hemochromatosis type 4606069C1853733OMIM120710909604653
HP:0002829HP:0002829Arthralgia0SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA117810955601460
HP:0002829HP:0002829Arthralgia0SLCO2A1 CL E G H6578614441Primary hypertrophic osteoarthropathy, autosomal recessive 2614441C3280800OMIM117810955601460
HP:0002829HP:0002829Arthralgia0STAT4 CL E G H6775117ORPHA119411365600558
HP:0002829HP:0002829Arthralgia0STAT4 CL E G H677585408ORPHA119411365600558
HP:0002829HP:0002829Arthralgia0STAT4 CL E G H677585410ORPHA119411365600558
HP:0002829HP:0002829Arthralgia0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116611586605842
HP:0002829HP:0002829Arthralgia0TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA111525941612839
HP:0002829HP:0002829Arthralgia0TLR4 CL E G H7099117ORPHA15911850603030
HP:0002829HP:0002829Arthralgia0TNFRSF1A CL E G H7132142680TNF receptor-associated periodic fever syndrome (TRAPS)142680C1275126OMIM144411916191190
HP:0002829HP:0002829Arthralgia0TNXB CL E G H7148230839ORPHA1168811976600985
HP:0002829HP:0002829Arthralgia0TNXB CL E G H7148606408Ehlers-Danlos-like syndrome due to tenascin-X deficiency606408C1848029OMIM1168811976600985
HP:0002829HP:0002829Arthralgia0TNXB CL E G H7148285Impossible syndromeORPHA1168811976600985
HP:0002829HP:0002829Arthralgia0TRAPPC2 CL E G H639993284ORPHA129123068300202
HP:0002829HP:0002829Arthralgia0TRAPPC2 CL E G H6399313400Spondyloepiphyseal dysplasia tarda313400C3541456OMIM129123068300202
HP:0002829HP:0002829Arthralgia0TREM2 CL E G H542092770ORPHA111017761605086
HP:0002829HP:0002829Arthralgia0TREX1 CL E G H11277610448Chilblain lupus 1610448C3277619OMIM132712269606609
HP:0002829HP:0002829Arthralgia0TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM140012340604386
HP:0002829HP:0002829Arthralgia0TYROBP CL E G H73052770ORPHA18512449604142
HP:0002829HP:0002829Arthralgia0UBAC2 CL E G H337867117ORPHA189204860
HP:0002829HP:0002829Arthralgia0UFSP2 CL E G H55325617974SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE617974CN244923OMIM114625640611482
HP:0002829HP:0002829Arthralgia0VCP CL E G H7415329475ORPHA147312666601023
HP:0002829HP:0002829Arthralgia0VCP CL E G H7415435387ORPHA147312666601023
HP:0002829HP:0002829Arthralgia0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA127612814611153
HP:0002829HP:0002829Arthralgia0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA166912816613208
HP:0002829HP:0005059Arthralgia/arthritis1ABCG5 CL E G H64240210250Sitosterolemia210250C0342907OMIM145713886605459
HP:0002829HP:0005059Arthralgia/arthritis1ABCG8 CL E G H64241210250Sitosterolemia210250C0342907OMIM151813887605460
HP:0002829HP:0005059Arthralgia/arthritis1AIP CL E G H9049963ORPHA1741358605555
HP:0002829HP:0005059Arthralgia/arthritis1ANKH CL E G H561721416ORPHA145715492605145
HP:0002829HP:0005059Arthralgia/arthritis1ANKRD55 CL E G H7972285408ORPHA12125681615189
HP:0002829HP:0005059Arthralgia/arthritis1ANKRD55 CL E G H7972285410ORPHA12125681615189
HP:0002829HP:0005059Arthralgia/arthritis1ASAH1 CL E G H427333ORPHA1712735613468
HP:0002829HP:0005059Arthralgia/arthritis1ATP7B CL E G H540905ORPHA11806870606882
HP:0002829HP:0005059Arthralgia/arthritis1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1196961605681
HP:0002829HP:0005059Arthralgia/arthritis1C4A CL E G H720117ORPHA1331323120810
HP:0002829HP:0005059Arthralgia/arthritis1CAV1 CL E G H857220393ORPHA11151527601047
HP:0002829HP:0005059Arthralgia/arthritis1CCN2 CL E G H1490220393ORPHA1262500121009
HP:0002829HP:0005059Arthralgia/arthritis1CCR1 CL E G H1230117ORPHA1201602601159
HP:0002829HP:0005059Arthralgia/arthritis1CCR6 CL E G H1235220393ORPHA1531607601835
HP:0002829HP:0005059Arthralgia/arthritis1CD247 CL E G H91985410ORPHA11451677186780
HP:0002829HP:0005059Arthralgia/arthritis1CD247 CL E G H91985408ORPHA11451677186780
HP:0002829HP:0005059Arthralgia/arthritis1CHST3 CL E G H9469263463ORPHA13521971603799
HP:0002829HP:0005059Arthralgia/arthritis1CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13521971603799
HP:0002829HP:0005059Arthralgia/arthritis1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11812586603432
HP:0002829HP:0005059Arthralgia/arthritis1COL11A1 CL E G H1301560ORPHA116712186120280
HP:0002829HP:0005059Arthralgia/arthritis1COL11A2 CL E G H1302166100ORPHA112402187120290
HP:0002829HP:0005059Arthralgia/arthritis1COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM112402187120290
HP:0002829HP:0005059Arthralgia/arthritis1COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM112402187120290
HP:0002829HP:0005059Arthralgia/arthritis1COL2A1 CL E G H128090653ORPHA118202200120140
HP:0002829HP:0005059Arthralgia/arthritis1COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0002829HP:0005059Arthralgia/arthritis1COL2A1 CL E G H12802380Freiberg's diseaseORPHA118202200120140
HP:0002829HP:0005059Arthralgia/arthritis1COL2A1 CL E G H1280616583Spondyloepiphyseal dysplasia, stanescu type616583C4225273OMIM118202200120140
HP:0002829HP:0005059Arthralgia/arthritis1COL9A1 CL E G H1297166002ORPHA18922217120210
HP:0002829HP:0005059Arthralgia/arthritis1COL9A1 CL E G H1297614135Multiple epiphyseal dysplasia 6614135C2675767OMIM18922217120210
HP:0002829HP:0005059Arthralgia/arthritis1COL9A2 CL E G H1298166002ORPHA16042218120260
HP:0002829HP:0005059Arthralgia/arthritis1COL9A3 CL E G H1299166002ORPHA19072219120270
HP:0002829HP:0005059Arthralgia/arthritis1COMP CL E G H131193308ORPHA14262227600310
HP:0002829HP:0005059Arthralgia/arthritis1COMP CL E G H1311750ORPHA14262227600310
HP:0002829HP:0005059Arthralgia/arthritis1COMP CL E G H1311177170Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome177170C0410538OMIM14262227600310
HP:0002829HP:0005059Arthralgia/arthritis1CTLA4 CL E G H1493900ORPHA11902505123890
HP:0002829HP:0005059Arthralgia/arthritis1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11192718600811
HP:0002829HP:0005059Arthralgia/arthritis1DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM125521144605942
HP:0002829HP:0005059Arthralgia/arthritis1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17633327130160
HP:0002829HP:0005059Arthralgia/arthritis1EPOR CL E G H205790042ORPHA1883416133171
HP:0002829HP:0005059Arthralgia/arthritis1ERAP1 CL E G H51752117ORPHA19418173606832
HP:0002829HP:0005059Arthralgia/arthritis1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA111963434126340
HP:0002829HP:0005059Arthralgia/arthritis1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA13683435133510
HP:0002829HP:0005059Arthralgia/arthritis1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA16023436133520
HP:0002829HP:0005059Arthralgia/arthritis1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14253437133530
HP:0002829HP:0005059Arthralgia/arthritis1FAS CL E G H355117ORPHA131311920134637
HP:0002829HP:0005059Arthralgia/arthritis1GLA CL E G H2717324Slti Salem syndromeORPHA110024296300644
HP:0002829HP:0005059Arthralgia/arthritis1GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM160323026607838
HP:0002829HP:0005059Arthralgia/arthritis1GPR101 CL E G H83550963ORPHA119414963300393
HP:0002829HP:0005059Arthralgia/arthritis1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11634659601679
HP:0002829HP:0005059Arthralgia/arthritis1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12184661604318
HP:0002829HP:0005059Arthralgia/arthritis1HFE CL E G H3077465508ORPHA11854886613609
HP:0002829HP:0005059Arthralgia/arthritis1HGD CL E G H308156ORPHA12724892607474
HP:0002829HP:0005059Arthralgia/arthritis1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002829HP:0005059Arthralgia/arthritis1HLA-B CL E G H3106117ORPHA1184932142830
HP:0002829HP:0005059Arthralgia/arthritis1HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0002829HP:0005059Arthralgia/arthritis1HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0002829HP:0005059Arthralgia/arthritis1HLA-DRB1 CL E G H312385414ORPHA1244948142857
HP:0002829HP:0005059Arthralgia/arthritis1HLA-DRB1 CL E G H3123220393ORPHA1244948142857
HP:0002829HP:0005059Arthralgia/arthritis1HPGD CL E G H32481525ORPHA11965154601688
HP:0002829HP:0005059Arthralgia/arthritis1HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA11965154601688
HP:0002829HP:0005059Arthralgia/arthritis1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0002829HP:0005059Arthralgia/arthritis1IL10 CL E G H3586117ORPHA1965962124092
HP:0002829HP:0005059Arthralgia/arthritis1IL12A CL E G H3592117ORPHA1295969161560
HP:0002829HP:0005059Arthralgia/arthritis1IL12A-AS1 CL E G H101928376117ORPHA113490940
HP:0002829HP:0005059Arthralgia/arthritis1IL1RN CL E G H3557612852Osteomyelitis, sterile multifocal, with periostitis and pustulosis612852C2748507OMIM12026000147679
HP:0002829HP:0005059Arthralgia/arthritis1IL23R CL E G H149233117ORPHA115519100607562
HP:0002829HP:0005059Arthralgia/arthritis1IL2RA CL E G H355985408ORPHA12656008147730
HP:0002829HP:0005059Arthralgia/arthritis1IL2RA CL E G H355985410ORPHA12656008147730
HP:0002829HP:0005059Arthralgia/arthritis1IL2RB CL E G H356085410ORPHA12046009146710
HP:0002829HP:0005059Arthralgia/arthritis1IL2RB CL E G H356085408ORPHA12046009146710
HP:0002829HP:0005059Arthralgia/arthritis1IL6 CL E G H356985414ORPHA1406018147620
HP:0002829HP:0005059Arthralgia/arthritis1IRF5 CL E G H3663220393ORPHA1426120607218
HP:0002829HP:0005059Arthralgia/arthritis1JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA12936192147796
HP:0002829HP:0005059Arthralgia/arthritis1KLRC4 CL E G H8302117ORPHA1356377602893
HP:0002829HP:0005059Arthralgia/arthritis1LACC1 CL E G H14481185414ORPHA16226789613409
HP:0002829HP:0005059Arthralgia/arthritis1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12016613601329
HP:0002829HP:0005059Arthralgia/arthritis1LPIN2 CL E G H966377297ORPHA181514450605519
HP:0002829HP:0005059Arthralgia/arthritis1MAFB CL E G H9935166300Multicentric osteolysis nephropathy166300C2674705OMIM11196408608968
HP:0002829HP:0005059Arthralgia/arthritis1MATN3 CL E G H414893311ORPHA11976909602109
HP:0002829HP:0005059Arthralgia/arthritis1MATN3 CL E G H4148607078Multiple epiphyseal dysplasia 5607078C1846843OMIM11976909602109
HP:0002829HP:0005059Arthralgia/arthritis1MEFV CL E G H4210342ORPHA19156998608107
HP:0002829HP:0005059Arthralgia/arthritis1MEFV CL E G H4210117ORPHA19156998608107
HP:0002829HP:0005059Arthralgia/arthritis1MEFV CL E G H4210249100Familial Mediterranean fever249100C0031069OMIM19156998608107
HP:0002829HP:0005059Arthralgia/arthritis1MEFV CL E G H4210134610Familial mediterranean fever, autosomal dominant134610C1851347OMIM19156998608107
HP:0002829HP:0005059Arthralgia/arthritis1MFN2 CL E G H99272398Froster Iskenius Waterson syndromeORPHA1106316877608507
HP:0002829HP:0005059Arthralgia/arthritis1MIF CL E G H428285414ORPHA11227097153620
HP:0002829HP:0005059Arthralgia/arthritis1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0002829HP:0005059Arthralgia/arthritis1MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA14477217159530
HP:0002829HP:0005059Arthralgia/arthritis1MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM18110545607545
HP:0002829HP:0005059Arthralgia/arthritis1MVK CL E G H4598343ORPHA14707530251170
HP:0002829HP:0005059Arthralgia/arthritis1MVK CL E G H4598260920Hyperimmunoglobulin D with periodic fever260920C0398691OMIM14707530251170
HP:0002829HP:0005059Arthralgia/arthritis1MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM14707530251170
HP:0002829HP:0005059Arthralgia/arthritis1NLRC4 CL E G H584841451ORPHA149916412606831
HP:0002829HP:0005059Arthralgia/arthritis1NLRC4 CL E G H58484616050Autoinflammation with infantile enterocolitis616050C4015067OMIM149916412606831
HP:0002829HP:0005059Arthralgia/arthritis1NLRC4 CL E G H58484616115Familial cold autoinflammatory syndrome 4616115C4015276OMIM149916412606831
HP:0002829HP:0005059Arthralgia/arthritis1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM185722938609648
HP:0002829HP:0005059Arthralgia/arthritis1NLRP3 CL E G H1145481451ORPHA175216400606416
HP:0002829HP:0005059Arthralgia/arthritis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA175216400606416
HP:0002829HP:0005059Arthralgia/arthritis1NLRP3 CL E G H114548617772DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION617772C4521680OMIM175216400606416
HP:0002829HP:0005059Arthralgia/arthritis1NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM175216400606416
HP:0002829HP:0005059Arthralgia/arthritis1NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM175216400606416
HP:0002829HP:0005059Arthralgia/arthritis1NOD2 CL E G H6412790340ORPHA17435331605956
HP:0002829HP:0005059Arthralgia/arthritis1NOTCH2 CL E G H4853955ORPHA17507882600275
HP:0002829HP:0005059Arthralgia/arthritis1OTULIN CL E G H90268617099Autoinflammation, panniculitis, and dermatosis syndrome617099C4310614OMIM140825118615712
HP:0002829HP:0005059Arthralgia/arthritis1PHEX CL E G H5251307800Familial X-linked hypophosphatemic vitamin D refractory rickets307800C0733682OMIM111608918300550
HP:0002829HP:0005059Arthralgia/arthritis1PIGT CL E G H51604615399Paroxysmal nocturnal hemoglobinuria 2615399C3809369OMIM116114938610272
HP:0002829HP:0005059Arthralgia/arthritis1PLCG2 CL E G H5336614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated614878C3553961OMIM19939066600220
HP:0002829HP:0005059Arthralgia/arthritis1PRKCD CL E G H5580615559Autoimmune lymphoproliferative syndrome, type III615559C3809928OMIM13459399176977
HP:0002829HP:0005059Arthralgia/arthritis1PRTN3 CL E G H5657900ORPHA1479495177020
HP:0002829HP:0005059Arthralgia/arthritis1PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM11139541602177
HP:0002829HP:0005059Arthralgia/arthritis1PSMB8 CL E G H56962615ORPHA11619545177046
HP:0002829HP:0005059Arthralgia/arthritis1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0002829HP:0005059Arthralgia/arthritis1PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1169546177045
HP:0002829HP:0005059Arthralgia/arthritis1PSTPIP1 CL E G H905169126ORPHA14909580606347
HP:0002829HP:0005059Arthralgia/arthritis1PTH1R CL E G H574579106ORPHA12009608168468
HP:0002829HP:0005059Arthralgia/arthritis1PTPN2 CL E G H577185408ORPHA1849650176887
HP:0002829HP:0005059Arthralgia/arthritis1PTPN2 CL E G H577185410ORPHA1849650176887
HP:0002829HP:0005059Arthralgia/arthritis1PTPN22 CL E G H2619185410ORPHA1349652600716
HP:0002829HP:0005059Arthralgia/arthritis1PTPN22 CL E G H2619185408ORPHA1349652600716
HP:0002829HP:0005059Arthralgia/arthritis1PTPN22 CL E G H26191900ORPHA1349652600716
HP:0002829HP:0005059Arthralgia/arthritis1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11809970600404
HP:0002829HP:0005059Arthralgia/arthritis1RNU4ATAC CL E G H1001516831824Devriendt Legius Fryns syndromeORPHA121434016601428
HP:0002829HP:0005059Arthralgia/arthritis1SEPT9 CL E G H108012901Hypogonadotropic hypogonadism-anosmia, X-linkedORPHA14187323604061
HP:0002829HP:0005059Arthralgia/arthritis1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM17510778606570
HP:0002829HP:0005059Arthralgia/arthritis1SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM1102610912600968
HP:0002829HP:0005059Arthralgia/arthritis1SLC26A2 CL E G H183693307ORPHA154910994606718
HP:0002829HP:0005059Arthralgia/arthritis1SLC26A2 CL E G H1836226900Multiple epiphyseal dysplasia 4226900C1847593OMIM154910994606718
HP:0002829HP:0005059Arthralgia/arthritis1SLC40A1 CL E G H30061139491ORPHA120710909604653
HP:0002829HP:0005059Arthralgia/arthritis1SLC40A1 CL E G H30061606069Hemochromatosis type 4606069C1853733OMIM120710909604653
HP:0002829HP:0005059Arthralgia/arthritis1SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA117810955601460
HP:0002829HP:0005059Arthralgia/arthritis1SLCO2A1 CL E G H6578614441Primary hypertrophic osteoarthropathy, autosomal recessive 2614441C3280800OMIM117810955601460
HP:0002829HP:0005059Arthralgia/arthritis1STAT4 CL E G H6775117ORPHA119411365600558
HP:0002829HP:0005059Arthralgia/arthritis1STAT4 CL E G H677585408ORPHA119411365600558
HP:0002829HP:0005059Arthralgia/arthritis1STAT4 CL E G H677585410ORPHA119411365600558
HP:0002829HP:0005059Arthralgia/arthritis1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116611586605842
HP:0002829HP:0005059Arthralgia/arthritis1TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA111525941612839
HP:0002829HP:0005059Arthralgia/arthritis1TLR4 CL E G H7099117ORPHA15911850603030
HP:0002829HP:0005059Arthralgia/arthritis1TNFRSF1A CL E G H7132142680TNF receptor-associated periodic fever syndrome (TRAPS)142680C1275126OMIM144411916191190
HP:0002829HP:0005059Arthralgia/arthritis1TNXB CL E G H7148230839ORPHA1168811976600985
HP:0002829HP:0005059Arthralgia/arthritis1TNXB CL E G H7148606408Ehlers-Danlos-like syndrome due to tenascin-X deficiency606408C1848029OMIM1168811976600985
HP:0002829HP:0005059Arthralgia/arthritis1TNXB CL E G H7148285Impossible syndromeORPHA1168811976600985
HP:0002829HP:0005059Arthralgia/arthritis1TRAPPC2 CL E G H639993284ORPHA129123068300202
HP:0002829HP:0005059Arthralgia/arthritis1TRAPPC2 CL E G H6399313400Spondyloepiphyseal dysplasia tarda313400C3541456OMIM129123068300202
HP:0002829HP:0005059Arthralgia/arthritis1TREM2 CL E G H542092770ORPHA111017761605086
HP:0002829HP:0005059Arthralgia/arthritis1TREX1 CL E G H11277610448Chilblain lupus 1610448C3277619OMIM132712269606609
HP:0002829HP:0005059Arthralgia/arthritis1TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM140012340604386
HP:0002829HP:0005059Arthralgia/arthritis1TYROBP CL E G H73052770ORPHA18512449604142
HP:0002829HP:0005059Arthralgia/arthritis1UBAC2 CL E G H337867117ORPHA189204860
HP:0002829HP:0005059Arthralgia/arthritis1UFSP2 CL E G H55325617974SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE617974CN244923OMIM114625640611482
HP:0002829HP:0005059Arthralgia/arthritis1VCP CL E G H7415329475ORPHA147312666601023
HP:0002829HP:0005059Arthralgia/arthritis1VCP CL E G H7415435387ORPHA147312666601023
HP:0002829HP:0005059Arthralgia/arthritis1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA127612814611153
HP:0002829HP:0005059Arthralgia/arthritis1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA166912816613208
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002829HP:0002829Arthralgia0ABCG5 CL E G H64240391665ORPHA045713886605459
HP:0002829HP:0002829Arthralgia0ABCG8 CL E G H64241391665ORPHA051813887605460
HP:0002829HP:0002829Arthralgia0APC CL E G H324873Bethlem myopathyC1834674ORPHA011490583611731
HP:0002829HP:0002829Arthralgia0APOB CL E G H338391665ORPHA03071603107730
HP:0002829HP:0002829Arthralgia0C1S CL E G H716617174Ehlers-Danlos syndrome, periodontal type, 2617174C4310681OMIM02541247120580
HP:0002829HP:0002829Arthralgia0CD19 CL E G H9301572ORPHA03251633107265
HP:0002829HP:0002829Arthralgia0CD81 CL E G H9751572ORPHA01481701186845
HP:0002829HP:0002829Arthralgia0CPOX CL E G H137179273ORPHA02072321612732
HP:0002829HP:0002829Arthralgia0CR2 CL E G H13801572ORPHA05162336120650
HP:0002829HP:0002829Arthralgia0CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA04682514116806
HP:0002829HP:0002829Arthralgia0FTL CL E G H2512254704ORPHA01513999134790
HP:0002829HP:0002829Arthralgia0HBB CL E G H3043231214ORPHA014504827141900
HP:0002829HP:0002829Arthralgia0HLA-B CL E G H31063287ORPHA0184932142830
HP:0002829HP:0002829Arthralgia0HMBS CL E G H314579276ORPHA03564982609806
HP:0002829HP:0002829Arthralgia0ICOS CL E G H298511572ORPHA01695351604558
HP:0002829HP:0002829Arthralgia0IL12B CL E G H35933287ORPHA01735970161561
HP:0002829HP:0002829Arthralgia0LDLR CL E G H3949391665ORPHA036126547606945
HP:0002829HP:0002829Arthralgia0LDLRAP1 CL E G H26119391665ORPHA036318640605747
HP:0002829HP:0002829Arthralgia0LEMD3 CL E G H235921306Choreoacanthocytosis amyotrophicORPHA029928887607844
HP:0002829HP:0002829Arthralgia0LMNA CL E G H400090153ORPHA016226636150330
HP:0002829HP:0002829Arthralgia0LMNB2 CL E G H8482379087ORPHA04666638150341
HP:0002829HP:0002829Arthralgia0LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM081514450605519
HP:0002829HP:0002829Arthralgia0MLX CL E G H69453287ORPHA02011645602976
HP:0002829HP:0002829Arthralgia0MS4A1 CL E G H9311572ORPHA0827315112210
HP:0002829HP:0002829Arthralgia0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM06417573160720
HP:0002829HP:0002829Arthralgia0NFKB1 CL E G H47901572ORPHA03847794164011
HP:0002829HP:0002829Arthralgia0NFKB2 CL E G H47911572ORPHA03967795164012
HP:0002829HP:0002829Arthralgia0NLRC4 CL E G H5848447045ORPHA049916412606831
HP:0002829HP:0002829Arthralgia0NLRP3 CL E G H11454847045ORPHA075216400606416
HP:0002829HP:0002829Arthralgia0PCSK9 CL E G H255738391665ORPHA093020001607786
HP:0002829HP:0002829Arthralgia0PRKCD CL E G H55801572ORPHA03459399176977
HP:0002829HP:0002829Arthralgia0PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0349652600716
HP:0002829HP:0002829Arthralgia0TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM027962612374
HP:0002829HP:0002829Arthralgia0TNFRSF13B CL E G H234951572ORPHA034118153604907
HP:0002829HP:0002829Arthralgia0TNFRSF13C CL E G H1156501572ORPHA013817755606269
HP:0002829HP:0002829Arthralgia0TNFRSF1A CL E G H713232960ORPHA044411916191190
HP:0002829HP:0002829Arthralgia0TNFSF12 CL E G H87421572ORPHA015211927602695
HP:0002829HP:0005059Arthralgia/arthritis1ABCG5 CL E G H64240391665ORPHA045713886605459
HP:0002829HP:0005059Arthralgia/arthritis1ABCG8 CL E G H64241391665ORPHA051813887605460
HP:0002829HP:0005059Arthralgia/arthritis1APC CL E G H324873Bethlem myopathyC1834674ORPHA011490583611731
HP:0002829HP:0005059Arthralgia/arthritis1APOB CL E G H338391665ORPHA03071603107730
HP:0002829HP:0005059Arthralgia/arthritis1C1S CL E G H716617174Ehlers-Danlos syndrome, periodontal type, 2617174C4310681OMIM02541247120580
HP:0002829HP:0005059Arthralgia/arthritis1CD19 CL E G H9301572ORPHA03251633107265
HP:0002829HP:0005059Arthralgia/arthritis1CD81 CL E G H9751572ORPHA01481701186845
HP:0002829HP:0005059Arthralgia/arthritis1CPOX CL E G H137179273ORPHA02072321612732
HP:0002829HP:0005059Arthralgia/arthritis1CR2 CL E G H13801572ORPHA05162336120650
HP:0002829HP:0005059Arthralgia/arthritis1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA04682514116806
HP:0002829HP:0005059Arthralgia/arthritis1FTL CL E G H2512254704ORPHA01513999134790
HP:0002829HP:0005059Arthralgia/arthritis1HBB CL E G H3043231214ORPHA014504827141900
HP:0002829HP:0005059Arthralgia/arthritis1HLA-B CL E G H31063287ORPHA0184932142830
HP:0002829HP:0005059Arthralgia/arthritis1HMBS CL E G H314579276ORPHA03564982609806
HP:0002829HP:0005059Arthralgia/arthritis1ICOS CL E G H298511572ORPHA01695351604558
HP:0002829HP:0005059Arthralgia/arthritis1IL12B CL E G H35933287ORPHA01735970161561
HP:0002829HP:0005059Arthralgia/arthritis1LDLR CL E G H3949391665ORPHA036126547606945
HP:0002829HP:0005059Arthralgia/arthritis1LDLRAP1 CL E G H26119391665ORPHA036318640605747
HP:0002829HP:0005059Arthralgia/arthritis1LEMD3 CL E G H235921306Choreoacanthocytosis amyotrophicORPHA029928887607844
HP:0002829HP:0005059Arthralgia/arthritis1LMNA CL E G H400090153ORPHA016226636150330
HP:0002829HP:0005059Arthralgia/arthritis1LMNB2 CL E G H8482379087ORPHA04666638150341
HP:0002829HP:0005059Arthralgia/arthritis1LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM081514450605519
HP:0002829HP:0005059Arthralgia/arthritis1MLX CL E G H69453287ORPHA02011645602976
HP:0002829HP:0005059Arthralgia/arthritis1MS4A1 CL E G H9311572ORPHA0827315112210
HP:0002829HP:0005059Arthralgia/arthritis1MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM06417573160720
HP:0002829HP:0005059Arthralgia/arthritis1NFKB1 CL E G H47901572ORPHA03847794164011
HP:0002829HP:0005059Arthralgia/arthritis1NFKB2 CL E G H47911572ORPHA03967795164012
HP:0002829HP:0005059Arthralgia/arthritis1NLRC4 CL E G H5848447045ORPHA049916412606831
HP:0002829HP:0005059Arthralgia/arthritis1NLRP3 CL E G H11454847045ORPHA075216400606416
HP:0002829HP:0005059Arthralgia/arthritis1PCSK9 CL E G H255738391665ORPHA093020001607786
HP:0002829HP:0005059Arthralgia/arthritis1PRKCD CL E G H55801572ORPHA03459399176977
HP:0002829HP:0005059Arthralgia/arthritis1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0349652600716
HP:0002829HP:0005059Arthralgia/arthritis1TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM027962612374
HP:0002829HP:0005059Arthralgia/arthritis1TNFRSF13B CL E G H234951572ORPHA034118153604907
HP:0002829HP:0005059Arthralgia/arthritis1TNFRSF13C CL E G H1156501572ORPHA013817755606269
HP:0002829HP:0005059Arthralgia/arthritis1TNFRSF1A CL E G H713232960ORPHA044411916191190
HP:0002829HP:0005059Arthralgia/arthritis1TNFSF12 CL E G H87421572ORPHA015211927602695


Genes (140) :ABCG5 ABCG8 AIP ANKH ANKRD55 APC APOB ASAH1 ATP7B BAZ1B C1S C4A CAV1 CCN2 CCR1 CCR6 CD19 CD247 CD81 CHST3 CLIP2 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP CPOX CR2 CTLA4 CTNNB1 DDB2 DSE ELN EPOR ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 FAS FTL GLA GNPTG GPR101 GTF2I GTF2IRD1 HBB HFE HGD HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HPGD ICOS IL10 IL12A IL12A-AS1 IL12B IL1RN IL23R IL2RA IL2RB IL6 IRF5 JAK2 KLRC4 LACC1 LDLR LDLRAP1 LEMD3 LIMK1 LMNA LMNB2 LPIN2 MAFB MATN3 MEFV MFN2 MIF MLX MMP2 MPL MS4A1 MSMO1 MVK MYH3 NFKB1 NFKB2 NLRC4 NLRP12 NLRP3 NOD2 NOTCH2 OTULIN PCSK9 PHEX PIGT PLCG2 PRKCD PRTN3 PSMB4 PSMB8 PSMB9 PSTPIP1 PTH1R PTPN2 PTPN22 RFC2 RNU4ATAC SEPT9 SEPTIN9 SFRP4 SLC12A3 SLC26A2 SLC40A1 SLCO2A1 STAT4 TBL2 TET2 TLR4 TMEM173 TNFRSF13B TNFRSF13C TNFRSF1A TNFSF12 TNXB TRAPPC2 TREM2 TREX1 TRPS1 TYROBP UBAC2 UFSP2 VCP XPA XPC

Diseases (112) :391665 210250 963 1416 85410 85408 873 333 905 904 617174 117 220393 1572 263463 143095 560 166100 215150 184840 90653 609162 2380 616583 166002 614135 93308 750 177170 79273 900 910 615539 90042 254704 324 252605 231214 465508 56 203500 3287 85414 79276 1525 2796 259100 612852 729 1306 90153 79087 77297 609628 166300 93311 607078 342 249100 134610 2398 259600 616834 343 260920 610377 193700 47045 1451 616050 616115 611762 575 617772 191900 120100 90340 955 617099 307800 615399 614878 615559 617591 2615 256040 69126 79106 397 1824 2901 265900 263800 93307 226900 139491 606069 614441 615934 32960 142680 230839 606408 285 93284 313400 2770 610448 190350 617974 435387 329475
 

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