Human Phenotype Ontology 
Grandparent Node:
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Constitutional symptom (HP:0025142)help
Parent Node:
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Abnormality of skeletal 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 I259900C0268164OMIM1211341604285
HP:0002653HP:0002653Bone pain0AP2S1 CL E G H1175600740Hypocalciuric hypercalcemia, familial, type III600740C1833372OMIM17565602242
HP:0002653HP:0002653Bone pain0ATP7B CL E G H540905ORPHA1938870606882
HP:0002653HP:0002653Bone pain0CA2 CL E G H7602785ORPHA1311373611492
HP:0002653HP:0002653Bone pain0CCND1 CL E G H59529073ORPHA171582168461
HP:0002653HP:0002653Bone pain0CLCN5 CL E G H1184300009Dent disease 1300009C1848336OMIM12742023300008
HP:0002653HP:0002653Bone pain0CLCN5 CL E G H1184300554Hypophosphatemic rickets, X-linked recessive300554C1845168OMIM12742023300008
HP:0002653HP:0002653Bone pain0CLCN7 CL E G H118653ORPHA11002025602727
HP:0002653HP:0002653Bone pain0CLCN7 CL E G H1186667ORPHA11002025602727
HP:0002653HP:0002653Bone pain0CTSK CL E G H1513763ORPHA1582536601105
HP:0002653HP:0002653Bone pain0CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA1732594107910
HP:0002653HP:0002653Bone pain0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM1822606609506
HP:0002653HP:0002653Bone pain0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM1620580608713
HP:0002653HP:0002653Bone pain0DKK1 CL E G H2294385193ORPHA142891605189
HP:0002653HP:0002653Bone pain0DMP1 CL E G H1758289176ORPHA1112932600980
HP:0002653HP:0002653Bone pain0ENPP1 CL E G H5167289176ORPHA1773356173335
HP:0002653HP:0002653Bone pain0EXT1 CL E G H2131321ORPHA15323512608177
HP:0002653HP:0002653Bone pain0EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA15323512608177
HP:0002653HP:0002653Bone pain0EXT2 CL E G H2132321ORPHA12583513608210
HP:0002653HP:0002653Bone pain0FGF23 CL E G H807489937ORPHA1203680605380
HP:0002653HP:0002653Bone pain0FGF23 CL E G H8074193100Autosomal dominant hypophosphatemic rickets193100C0342642OMIM1203680605380
HP:0002653HP:0002653Bone pain0GBA CL E G H262977259ORPHA14944177606463
HP:0002653HP:0002653Bone pain0GBA CL E G H262977261ORPHA14944177606463
HP:0002653HP:0002653Bone pain0GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14944177606463
HP:0002653HP:0002653Bone pain0GNAS CL E G H2778562ORPHA12794392139320
HP:0002653HP:0002653Bone pain0GNAS CL E G H27782762Hyalinosis systemic short statureORPHA12794392139320
HP:0002653HP:0002653Bone pain0HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA1185154601688
HP:0002653HP:0002653Bone pain0IDH1 CL E G H3417296ORPHA155382147700
HP:0002653HP:0002653Bone pain0IDH1 CL E G H3417163634ORPHA155382147700
HP:0002653HP:0002653Bone pain0IDH2 CL E G H3418296ORPHA175383147650
HP:0002653HP:0002653Bone pain0IDH2 CL E G H3418163634ORPHA175383147650
HP:0002653HP:0002653Bone pain0LEMD3 CL E G H235921306Choreoacanthocytosis amyotrophicORPHA13428887607844
HP:0002653HP:0002653Bone pain0LPIN2 CL E G H966377297ORPHA11614450605519
HP:0002653HP:0002653Bone pain0NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM117849156490
HP:0002653HP:0002653Bone pain0NOTCH2 CL E G H4853955ORPHA1817882600275
HP:0002653HP:0002653Bone pain0PHEX CL E G H525189936ORPHA14578918300550
HP:0002653HP:0002653Bone pain0PHEX CL E G H5251307800Familial X-linked hypophosphatemic vitamin D refractory rickets307800C0733682OMIM14578918300550
HP:0002653HP:0002653Bone pain0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM1119545177046
HP:0002653HP:0002653Bone pain0PTH1R CL E G H5745296ORPHA1459608168468
HP:0002653HP:0002653Bone pain0PTPN11 CL E G H57812499ORPHA11439644176876
HP:0002653HP:0002653Bone pain0SCARB2 CL E G H95077259ORPHA1271665602257
HP:0002653HP:0002653Bone pain0SLC34A3 CL E G H142680157215ORPHA14020305609826
HP:0002653HP:0002653Bone pain0SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM14020305609826
HP:0002653HP:0002653Bone pain0SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA17610955601460
HP:0002653HP:0002653Bone pain0SNX10 CL E G H29887667ORPHA11314974614780
HP:0002653HP:0002653Bone pain0SQSTM1 CL E G H8878167250Paget disease of bone, familial167250C4085252OMIM19811280601530
HP:0002653HP:0002653Bone pain0TCIRG1 CL E G H10312667ORPHA113711647604592
HP:0002653HP:0002653Bone pain0TEK CL E G H70101059MTHFS-related conditionORPHA13511724600221
HP:0002653HP:0002653Bone pain0TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA13511766190180
HP:0002653HP:0002653Bone pain0TNFRSF11A CL E G H8792174810Familial expansile osteolysis174810C0432292OMIM12611908603499
HP:0002653HP:0002653Bone pain0TNFSF11 CL E G H8600667ORPHA11611926602642
HP:0002653HP:0002653Bone pain0TREM2 CL E G H542092770ORPHA15617761605086
HP:0002653HP:0002653Bone pain0TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA114212340604386
HP:0002653HP:0002653Bone pain0TYROBP CL E G H73052770ORPHA11412449604142
HP:0002653HP:0002653Bone pain0VCP CL E G H7415329475ORPHA16512666601023
HP:0002653HP:0002653Bone pain0VDR CL E G H742193160ORPHA17112679601769
HP:0002653HP:0002653Bone pain0VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM17112679601769
HP:0002653HP:0002653Bone pain0WNT1 CL E G H747185193ORPHA14412774164820
HP:0002653HP:0002653Bone pain0WNT3A CL E G H8978085193ORPHA1115983606359
HP:0002653HP:0002653Bone pain0ZNF687 CL E G H57592616833Paget disease of bone 6616833C4085250OMIM1429277610568
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002653HP:0002653Bone pain0CDC73 CL E G H79577143ORPHA010416783607393
HP:0002653HP:0002653Bone pain0CDC73 CL E G H7957799880ORPHA010416783607393
HP:0002653HP:0002653Bone pain0FOXE1 CL E G H2304319487ORPHA0313806602617
HP:0002653HP:0002653Bone pain0GNAS CL E G H277857782ORPHA02794392139320
HP:0002653HP:0002653Bone pain0HABP2 CL E G H3026319487ORPHA044798603924
HP:0002653HP:0002653Bone pain0LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM01614450605519
HP:0002653HP:0002653Bone pain0MINPP1 CL E G H9562319487ORPHA037102605391
HP:0002653HP:0002653Bone pain0POLE CL E G H5426615139Facial dysmorphism, immunodeficiency, livedo, and short stature615139C3554576OMIM0759177174762
HP:0002653HP:0002653Bone pain0SERPINF2 CL E G H534579ORPHA0109075613168


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 53 667 763 91 264700 600081 85193 289176 321 502 89937 193100 319487 77259 77261 230800 562 57782 2762 2796 163634 296 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 June 2019 release.