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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Bone pain (HP:0002653)help
Term ID: 2653
Name: Bone pain
Synonym: Bone pain
Definition: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Comments:
Reference: HP:0002653
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
..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:0002653HP:0002653Bone pain0AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1599341604285
HP:0002653HP:0002653Bone pain0AGXT CL E G H189259900Primary hyperoxaluria, type I259900C0268164OMIM1563341604285
HP:0002653HP:0002653Bone pain0AP2S1 CL E G H1175600740Hypocalciuric hypercalcemia, familial, type III600740C1833372OMIM161565602242
HP:0002653HP:0002653Bone pain0AP2S1 CL E G H1175600740Hypocalciuric hypercalcemia, familial, type III600740C1833372OMIM153565602242
HP:0002653HP:0002653Bone pain0ATP7B CL E G H540905ORPHA11579870606882
HP:0002653HP:0002653Bone pain0ATP7B CL E G H540905ORPHA11389870606882
HP:0002653HP:0002653Bone pain0CA2 CL E G H7602785ORPHA11191373611492
HP:0002653HP:0002653Bone pain0CA2 CL E G H7602785ORPHA11041373611492
HP:0002653HP:0002653Bone pain0CCND1 CL E G H59529073ORPHA1191582168461
HP:0002653HP:0002653Bone pain0CCND1 CL E G H59529073ORPHA1171582168461
HP:0002653HP:0002653Bone pain0CLCN5 CL E G H1184300009Dent disease 1300009C1848336OMIM14222023300008
HP:0002653HP:0002653Bone pain0CLCN5 CL E G H1184300009Dent disease 1300009C1848336OMIM13992023300008
HP:0002653HP:0002653Bone pain0CLCN5 CL E G H1184300554Hypophosphatemic rickets, X-linked recessive300554C1845168OMIM14222023300008
HP:0002653HP:0002653Bone pain0CLCN5 CL E G H1184300554Hypophosphatemic rickets, X-linked recessive300554C1845168OMIM13992023300008
HP:0002653HP:0002653Bone pain0CLCN7 CL E G H118653ORPHA15492025602727
HP:0002653HP:0002653Bone pain0CLCN7 CL E G H1186667ORPHA15492025602727
HP:0002653HP:0002653Bone pain0CLCN7 CL E G H118653ORPHA13882025602727
HP:0002653HP:0002653Bone pain0CLCN7 CL E G H1186667ORPHA13882025602727
HP:0002653HP:0002653Bone pain0CTSK CL E G H1513763ORPHA11862536601105
HP:0002653HP:0002653Bone pain0CTSK CL E G H1513763ORPHA11632536601105
HP:0002653HP:0002653Bone pain0CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12882594107910
HP:0002653HP:0002653Bone pain0CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12722594107910
HP:0002653HP:0002653Bone pain0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11362606609506
HP:0002653HP:0002653Bone pain0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11182606609506
HP:0002653HP:0002653Bone pain0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM17420580608713
HP:0002653HP:0002653Bone pain0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM16320580608713
HP:0002653HP:0002653Bone pain0DKK1 CL E G H2294385193ORPHA1242891605189
HP:0002653HP:0002653Bone pain0DMP1 CL E G H1758289176ORPHA11252932600980
HP:0002653HP:0002653Bone pain0DMP1 CL E G H1758289176ORPHA11392932600980
HP:0002653HP:0002653Bone pain0ENPP1 CL E G H5167289176ORPHA13863356173335
HP:0002653HP:0002653Bone pain0ENPP1 CL E G H5167289176ORPHA13703356173335
HP:0002653HP:0002653Bone pain0EXT1 CL E G H2131321ORPHA16483512608177
HP:0002653HP:0002653Bone pain0EXT1 CL E G H2131321ORPHA15243512608177
HP:0002653HP:0002653Bone pain0EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA16483512608177
HP:0002653HP:0002653Bone pain0EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA15243512608177
HP:0002653HP:0002653Bone pain0EXT2 CL E G H2132321ORPHA14663513608210
HP:0002653HP:0002653Bone pain0EXT2 CL E G H2132321ORPHA13793513608210
HP:0002653HP:0002653Bone pain0FGF23 CL E G H807489937ORPHA11583680605380
HP:0002653HP:0002653Bone pain0FGF23 CL E G H807489937ORPHA11773680605380
HP:0002653HP:0002653Bone pain0FGF23 CL E G H8074193100Autosomal dominant hypophosphatemic rickets193100C0342642OMIM11583680605380
HP:0002653HP:0002653Bone pain0FGF23 CL E G H8074193100Autosomal dominant hypophosphatemic rickets193100C0342642OMIM11773680605380
HP:0002653HP:0002653Bone pain0GBA CL E G H262977259ORPHA12694177606463
HP:0002653HP:0002653Bone pain0GBA CL E G H262977261ORPHA12694177606463
HP:0002653HP:0002653Bone pain0GBA CL E G H262977261ORPHA12614177606463
HP:0002653HP:0002653Bone pain0GBA CL E G H262977259ORPHA12614177606463
HP:0002653HP:0002653Bone pain0GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM12694177606463
HP:0002653HP:0002653Bone pain0GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM12614177606463
HP:0002653HP:0002653Bone pain0GNAS CL E G H2778562ORPHA13714392139320
HP:0002653HP:0002653Bone pain0GNAS CL E G H2778562ORPHA13334392139320
HP:0002653HP:0002653Bone pain0GNAS CL E G H27782762Hyalinosis systemic short statureORPHA13714392139320
HP:0002653HP:0002653Bone pain0GNAS CL E G H27782762Hyalinosis systemic short statureORPHA13334392139320
HP:0002653HP:0002653Bone pain0HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA11835154601688
HP:0002653HP:0002653Bone pain0HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA11655154601688
HP:0002653HP:0002653Bone pain0IDH1 CL E G H3417296ORPHA1695382147700
HP:0002653HP:0002653Bone pain0IDH1 CL E G H3417163634ORPHA1685382147700
HP:0002653HP:0002653Bone pain0IDH1 CL E G H3417296ORPHA1685382147700
HP:0002653HP:0002653Bone pain0IDH1 CL E G H3417163634ORPHA1695382147700
HP:0002653HP:0002653Bone pain0IDH2 CL E G H3418163634ORPHA11625383147650
HP:0002653HP:0002653Bone pain0IDH2 CL E G H3418296ORPHA11625383147650
HP:0002653HP:0002653Bone pain0IDH2 CL E G H3418163634ORPHA11405383147650
HP:0002653HP:0002653Bone pain0IDH2 CL E G H3418296ORPHA11405383147650
HP:0002653HP:0002653Bone pain0LEMD3 CL E G H235921306Choreoacanthocytosis amyotrophicORPHA124628887607844
HP:0002653HP:0002653Bone pain0LEMD3 CL E G H235921306Choreoacanthocytosis amyotrophicORPHA117828887607844
HP:0002653HP:0002653Bone pain0LPIN2 CL E G H966377297ORPHA171514450605519
HP:0002653HP:0002653Bone pain0LPIN2 CL E G H966377297ORPHA164714450605519
HP:0002653HP:0002653Bone pain0NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1147849156490
HP:0002653HP:0002653Bone pain0NOTCH2 CL E G H4853955ORPHA16277882600275
HP:0002653HP:0002653Bone pain0NOTCH2 CL E G H4853955ORPHA15267882600275
HP:0002653HP:0002653Bone pain0PHEX CL E G H525189936ORPHA111018918300550
HP:0002653HP:0002653Bone pain0PHEX CL E G H525189936ORPHA19648918300550
HP:0002653HP:0002653Bone pain0PHEX CL E G H5251307800Familial X-linked hypophosphatemic vitamin D refractory rickets307800C0733682OMIM111018918300550
HP:0002653HP:0002653Bone pain0PHEX CL E G H5251307800Familial X-linked hypophosphatemic vitamin D refractory rickets307800C0733682OMIM19648918300550
HP:0002653HP:0002653Bone pain0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11369545177046
HP:0002653HP:0002653Bone pain0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11219545177046
HP:0002653HP:0002653Bone pain0PTH1R CL E G H5745296ORPHA11669608168468
HP:0002653HP:0002653Bone pain0PTH1R CL E G H5745296ORPHA11359608168468
HP:0002653HP:0002653Bone pain0PTPN11 CL E G H57812499ORPHA16299644176876
HP:0002653HP:0002653Bone pain0PTPN11 CL E G H57812499ORPHA15659644176876
HP:0002653HP:0002653Bone pain0SCARB2 CL E G H95077259ORPHA13761665602257
HP:0002653HP:0002653Bone pain0SCARB2 CL E G H95077259ORPHA13281665602257
HP:0002653HP:0002653Bone pain0SLC34A3 CL E G H142680157215ORPHA133820305609826
HP:0002653HP:0002653Bone pain0SLC34A3 CL E G H142680157215ORPHA128820305609826
HP:0002653HP:0002653Bone pain0SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM128820305609826
HP:0002653HP:0002653Bone pain0SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM133820305609826
HP:0002653HP:0002653Bone pain0SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA114010955601460
HP:0002653HP:0002653Bone pain0SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA19710955601460
HP:0002653HP:0002653Bone pain0SNX10 CL E G H29887667ORPHA18914974614780
HP:0002653HP:0002653Bone pain0SNX10 CL E G H29887667ORPHA15614974614780
HP:0002653HP:0002653Bone pain0SQSTM1 CL E G H8878167250Paget disease of bone, familial167250C4085252OMIM138311280601530
HP:0002653HP:0002653Bone pain0SQSTM1 CL E G H8878167250Paget disease of bone, familial167250C4085252OMIM147311280601530
HP:0002653HP:0002653Bone pain0TCIRG1 CL E G H10312667ORPHA167411647604592
HP:0002653HP:0002653Bone pain0TCIRG1 CL E G H10312667ORPHA154411647604592
HP:0002653HP:0002653Bone pain0TEK CL E G H70101059MTHFS-related conditionORPHA131811724600221
HP:0002653HP:0002653Bone pain0TEK CL E G H70101059MTHFS-related conditionORPHA129811724600221
HP:0002653HP:0002653Bone pain0TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA112811766190180
HP:0002653HP:0002653Bone pain0TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA17411766190180
HP:0002653HP:0002653Bone pain0TNFRSF11A CL E G H8792174810Familial expansile osteolysis174810C0432292OMIM134811908603499
HP:0002653HP:0002653Bone pain0TNFRSF11A CL E G H8792174810Familial expansile osteolysis174810C0432292OMIM125411908603499
HP:0002653HP:0002653Bone pain0TNFSF11 CL E G H8600667ORPHA116611926602642
HP:0002653HP:0002653Bone pain0TNFSF11 CL E G H8600667ORPHA112911926602642
HP:0002653HP:0002653Bone pain0TREM2 CL E G H542092770ORPHA19417761605086
HP:0002653HP:0002653Bone pain0TREM2 CL E G H542092770ORPHA16417761605086
HP:0002653HP:0002653Bone pain0TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA133612340604386
HP:0002653HP:0002653Bone pain0TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA127012340604386
HP:0002653HP:0002653Bone pain0TYROBP CL E G H73052770ORPHA17312449604142
HP:0002653HP:0002653Bone pain0TYROBP CL E G H73052770ORPHA15212449604142
HP:0002653HP:0002653Bone pain0VCP CL E G H7415329475ORPHA139512666601023
HP:0002653HP:0002653Bone pain0VCP CL E G H7415329475ORPHA135612666601023
HP:0002653HP:0002653Bone pain0VDR CL E G H742193160ORPHA125612679601769
HP:0002653HP:0002653Bone pain0VDR CL E G H742193160ORPHA123912679601769
HP:0002653HP:0002653Bone pain0VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM125612679601769
HP:0002653HP:0002653Bone pain0VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM123912679601769
HP:0002653HP:0002653Bone pain0WNT1 CL E G H747185193ORPHA19512774164820
HP:0002653HP:0002653Bone pain0WNT1 CL E G H747185193ORPHA16212774164820
HP:0002653HP:0002653Bone pain0WNT3A CL E G H8978085193ORPHA14215983606359
HP:0002653HP:0002653Bone pain0WNT3A CL E G H8978085193ORPHA16315983606359
HP:0002653HP:0002653Bone pain0ZNF687 CL E G H57592616833Paget disease of bone 6616833C4085250OMIM14329277610568
HP:0002653HP:0002653Bone pain0ZNF687 CL E G H57592616833Paget disease of bone 6616833C4085250OMIM13929277610568
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002653HP:0002653Bone pain0CDC73 CL E G H7957799880ORPHA070416783607393
HP:0002653HP:0002653Bone pain0CDC73 CL E G H79577143ORPHA082816783607393
HP:0002653HP:0002653Bone pain0CDC73 CL E G H7957799880ORPHA082816783607393
HP:0002653HP:0002653Bone pain0CDC73 CL E G H79577143ORPHA070416783607393
HP:0002653HP:0002653Bone pain0FOXE1 CL E G H2304319487ORPHA0693806602617
HP:0002653HP:0002653Bone pain0FOXE1 CL E G H2304319487ORPHA0703806602617
HP:0002653HP:0002653Bone pain0GNAS CL E G H277857782ORPHA03714392139320
HP:0002653HP:0002653Bone pain0GNAS CL E G H277857782ORPHA03334392139320
HP:0002653HP:0002653Bone pain0HABP2 CL E G H3026319487ORPHA01964798603924
HP:0002653HP:0002653Bone pain0HABP2 CL E G H3026319487ORPHA01954798603924
HP:0002653HP:0002653Bone pain0LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM071514450605519
HP:0002653HP:0002653Bone pain0LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM064714450605519
HP:0002653HP:0002653Bone pain0MINPP1 CL E G H9562319487ORPHA0487102605391
HP:0002653HP:0002653Bone pain0MINPP1 CL E G H9562319487ORPHA0497102605391
HP:0002653HP:0002653Bone pain0POLE CL E G H5426615139Facial dysmorphism, immunodeficiency, livedo, and short stature615139C3554576OMIM057599177174762
HP:0002653HP:0002653Bone pain0POLE CL E G H5426615139Facial dysmorphism, immunodeficiency, livedo, and short stature615139C3554576OMIM050339177174762
HP:0002653HP:0002653Bone pain0SERPINF2 CL E G H534579ORPHA01189075613168
HP:0002653HP:0002653Bone pain0SERPINF2 CL E G H534579ORPHA01159075613168


Genes (54) :AGXT AP2S1 ATP7B CA2 CCND1 CDC73 CLCN5 CLCN7 CTSK CYP19A1 CYP27B1 CYP2R1 DKK1 DMP1 ENPP1 EXT1 EXT2 FGF23 FOXE1 GBA GNAS HABP2 HPGD IDH1 IDH2 LEMD3 LPIN2 MINPP1 NME1 NOTCH2 PHEX POLE PSMB8 PTH1R PTPN11 SCARB2 SERPINF2 SLC34A3 SLCO2A1 SNX10 SQSTM1 TCIRG1 TEK TGFB1 TNFRSF11A TNFSF11 TREM2 TRPS1 TYROBP VCP VDR WNT1 WNT3A ZNF687

Diseases (53) :259900 600740 905 2785 29073 143 99880 300009 300554 667 53 763 91 264700 600081 85193 289176 321 502 89937 193100 319487 77261 77259 230800 57782 562 2762 2796 296 163634 1306 77297 609628 256700 955 89936 307800 615139 256040 2499 79 157215 241530 167250 1059 1328 174810 2770 329475 93160 277440 616833
 

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