Human Phenotype Ontology 
Grandparent Node:
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All (HP:0000001)help
Parent Node:
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Phenotypic abnormality (HP:0000118)help
..Starting node
..expand
Constitutional symptom (HP:0025142)help
Term ID: 25142
Name: Constitutional symptom
Synonym:
Definition: A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.
Comments:
Reference: HP:0025142
Genes and Diseases:
 
       Child Nodes:
........expandFatigue (HP:0012378) help
................... HP:0012431 Episodic fatigue
................... HP:0012432 Chronic fatigue
................... HP:0030973 Postexertional malaise
........expandPain (HP:0012531) help
................... HP:0002027 Abdominal pain
................... HP:0002653 Bone pain
................... HP:0002829 Arthralgia
................... HP:0003326 Myalgia
................... HP:0003418 Back pain
................... HP:0006649 Costochondral pain
................... HP:0009763 Limb pain
................... HP:0012532 Chronic pain
................... HP:0012533 Allodynia
................... HP:0025238 Foot pain
................... HP:0030155 Scrotal pain
................... HP:0030157 Flank pain
................... HP:0030766 Ear pain
................... HP:0030833 Neck pain
................... HP:0030834 Shoulder pain
................... HP:0030835 Elbow pain
................... HP:0030836 Wrist pain
................... HP:0030837 Finger pain
................... HP:0030838 Hip pain
................... HP:0030839 Knee pain
................... HP:0030840 Ankle pain
................... HP:0030841 Toe pain
................... HP:0030943 Vulvodynia
................... HP:0031520 Groin pain
................... HP:0040264 Jaw pain
................... HP:0100749 Chest pain
................... HP:0200025 Mandibular pain
................... HP:0200026 Ocular pain
................... HP:0410019 Epigastric pain
................... HP:0500005 Anal pain
........expandChills (HP:0025143) help
................... HP:0025145 Rigors
........expandShivering (HP:0025144) help
................... HP:0025145 Rigors
........expandAsthenia (HP:0025406) help
........expandNight sweats (HP:0030166) help
........expandImpairment of activities of daily living (HP:0031058) help
................... HP:0031059 Impaired ability to bathe oneself
................... HP:0031060 Impaired ability to dress oneself
................... HP:0031061 Impaired toileting ability
................... HP:0031062 Impaired transferring ability
................... HP:0031063 Impaired feeding ability
................... HP:0031064 Impaired continence
........expandHot flashes (HP:0031217) help
........expandChest tightness (HP:0031352) help
........expandBody odor (HP:0500001) help
................... HP:0410020 Fish odor
................... HP:0410021 Musty odor

 Sister Nodes: 
..expandAbnormal cellular phenotype (HP:0025354) help
..expandAbnormality of blood and blood-forming tissues (HP:0001871) help
..expandAbnormality of connective tissue (HP:0003549) help
..expandAbnormality of head or neck (HP:0000152) help
..expandAbnormality of limbs (HP:0040064) help
..expandAbnormality of metabolism/homeostasis (HP:0001939) help
..expandAbnormality of prenatal development or birth (HP:0001197) help
..expandAbnormality of the breast (HP:0000769) help
..expandAbnormality of the cardiovascular system (HP:0001626) help
..expandAbnormality of the digestive system (HP:0025031) help
..expandAbnormality of the ear (HP:0000598) help
..expandAbnormality of the endocrine system (HP:0000818) help
..expandAbnormality of the eye (HP:0000478) help
..expandAbnormality of the genitourinary system (HP:0000119) help
..expandAbnormality of the immune system (HP:0002715) help
..expandAbnormality of the integument (HP:0001574) help
..expandAbnormality of the musculature (HP:0003011) help
..expandAbnormality of the nervous system (HP:0000707) help
..expandAbnormality of the respiratory system (HP:0002086) help
..expandAbnormality of the skeletal system (HP:0000924) help
..expandAbnormality of the thoracic cavity (HP:0045027) help
..expandAbnormality of the voice (HP:0001608) help
..expandGrowth abnormality (HP:0001507) help
..expandNeoplasm (HP:0002664) help
..expandobsolete Abnormal test result (HP:0500014) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025142HP:0025142Constitutional symptom0 CL E G H
HP:0025142HP:0025142Constitutional symptom1 CL E G H
HP:0025142HP:0025142Constitutional symptom2 CL E G H
HP:0025142HP:0025142Constitutional symptom3 CL E G H
HP:0025142HP:0025142Constitutional symptom4 CL E G H


Genes (706) :ABCA1 ABCA12 ABCC2 ABCD1 ABCG5 ABCG8 ABL1 ACAD9 ACADL ACADVL ACTA2 ACTG2 ADA2 AGK AGPAT2 AGXT AIP ALAD ALAS2 ALB ALDH18A1 ALDOB ALOX12B ALOXE3 ALS2 AMPD1 AMPD3 ANG ANKH ANKRD55 ANO5 ANXA11 AP2S1 AP5Z1 APC APOB ARMC5 ARNT2 ARSA ARVCF ASAH1 ATL1 ATM ATP13A2 ATP6 ATP7A ATP7B ATRX ATXN10 ATXN2 ATXN3 ATXN8 ATXN8OS AUH B2M BAP1 BAZ1B BCL10 BCL2 BCL6 BCR BIN1 BIRC3 BLNK BMPR1A BRCA1 BRCA2 BSCL2 BTK BTNL2 C11ORF95 C19ORF12 C1QBP C1S C4A C9ORF72 CA2 CACNA1G CALR CAPN3 CASQ1 CASR CAV1 CAV3 CAVIN1 CCDC78 CCN2 CCND1 CCNF CCR1 CCR6 CD19 CD247 CD28 CD55 CD79A CD79B CD81 CDC73 CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CEL CFAP410 CFTR CHCHD10 CHEK2 CHMP2B CHRNA2 CHRND CHST3 CLCN1 CLCN5 CLCN7 CLDN16 CLIP2 CNBP COL11A1 COL11A2 COL17A1 COL1A1 COL2A1 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 COMP COMT COQ2 COQ7 COX1 COX2 COX3 CPA1 CPOX CPT1A CPT1C CPT2 CR2 CRKL CRPPA CTLA4 CTNNB1 CTRC CTSK CYP19A1 CYP27B1 CYP2R1 CYP4F22 CYP7B1 CYSLTR2 DACT1 DAO DAXX DCC DCTN1 DDB2 DDHD2 DDIT3 DGUOK DIS3L2 DKK1 DLEC1 DLL3 DMD DMGDH DMP1 DNA2 DNAJC6 DNAL4 DNASE1L3 DNM2 DNMT1 DOLK DPM3 DSE DSTYK DUOX2 DUOXA2 DYSF ECE1 EDN3 EDNRB ELANE ELN EMD ENO3 ENPP1 EPCAM EPHA4 EPOR ERAP1 ERBB4 ERCC2 ERCC3 ERCC4 ERCC5 ERLIN1 ESR1 EWSR1 EXT1 EXT2 F12 F5 FA2H FAN1 FAS FBN1 FERMT3 FGF23 FGFR1 FH FHL1 FIG4 FKRP FKTN FLI1 FLVCR1 FMR1 FOS FOXE1 FOXE3 FOXP1 FSHR FTL FUS FUZ GATA1 GATA2 GBA GBA2 GBE1 GCGR GCH1 GCK GDNF GHSR GJC2 GLA GLE1 GLI2 GNA11 GNAQ GNAS GNE GNPTG GP1BB GPC3 GPIHBP1 GPR101 GPR35 GTF2I GTF2IRD1 GUCY2C H19 HABP2 HACE1 HADHA HADHB HARS HBA1 HBA2 HBB HESX1 HEXB HFE HGD HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HNF1A HNF4A HNRNPA1 HNRNPA2B1 HOGA1 HPGD HPS1 HPSE2 HSPD1 HSPG2 HTRA1 ICOS IDH1 IDH2 IFNGR1 IFT57 IGH IGHM IGHMBP2 IGLL1 IKZF1 IL10 IL12A IL12A-AS1 IL12B IL12RB1 IL1RN IL23R IL2RA IL2RB IL6 INHBA INSR IRF5 ISL1 IYD JAK2 JMJD1C KCNC3 KCND3 KCNQ2 KCNQ3 KIF11 KIF1B KIF23 KIF5A KIT KLRC4 KRAS KY LACC1 LBR LDHA LDLR LDLRAP1 LEMD3 LHX3 LHX4 LIMK1 LIPN LMF1 LMNA LMNB2 LOX LPIN1 LPIN2 LPL LRIG2 LRP5 LRRC8A MAFB MALT1 MAPK1 MAT2A MATN3 MATR3 MAX MCM6 MDH2 MEFV MEN1 MESP2 MET MFAP5 MFN2 MIF MINPP1 MLH1 MLH3 MLX MLYCD MMACHC MMADHC MME MMEL1 MMP2 MMUT MNX1 MORC2 MPL MS4A1 MSH2 MSH6 MSMO1 MST1 MSTO1 MTMR14 MVK MYC MYD88 MYF6 MYH11 MYH3 MYH7 MYL2 MYLK MYOT ND1 ND4 ND5 ND6 NEFH NEK1 NEXMIF NFKB1 NFKB2 NGLY1 NIPA1 NIPAL4 NKX2-1 NKX2-5 NLRC4 NLRP12 NLRP3 NME1 NOD2 NOP56 NOTCH2 NOTCH3 NR3C1 NRTN NTN1 OPA3 OPLAH OPTN ORAI1 OTULIN OTX2 PALB2 PALLD PANK2 PAX8 PCSK9 PDE11A PDE8B PDGFB PDGFRA PDGFRB PEX11B PFN1 PGAM2 PGM1 PHEX PHKA1 PIGA PIGT PIGY PIK3CA PIK3R1 PLCG2 PLEC PLN PLP1 PMP22 PMS1 PMS2 PNPLA2 PNPLA8 PODXL POLE POLG POLG2 POMGNT1 POMT1 PON1 PON2 PON3 PORCN POU1F1 POU2AF1 POU6F2 PPARG PPARGC1A PPOX PRDM5 PRDM8 PREPL PRKACA PRKAR1A PRKCD PRKCSH PRKG1 PRKRA PRNP PROC PROKR2 PROP1 PROS1 PRPH PRRT2 PRSS1 PRSS2 PRTN3 PSAP PSMB4 PSMB8 PSMB9 PSTPIP1 PTH1R PTPN11 PTPN2 PTPN22 PTPN3 PYGM RAD51 RB1 RBCK1 REEP2 RELA REST RET RETREG1 RFC2 RNASEH1 RNF168 RNF6 RNU4ATAC RPL11 RPL15 RPL18 RPL26 RPL27 RPL35 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RRM2B RTN2 RUNX1 RYR1 SAA1 SACS SALL1 SBF1 SCARB2 SCN11A SCN2A SCN4A SCN8A SCN9A SCNN1A SCNN1B SCNN1G SDHA SDHAF2 SDHB SDHC SDHD SDR9C7 SEC24C SEC63 SEMA3C SEMA3D SEPTIN9 SERPINF2 SERPING1 SF3B1 SFRP4 SH2B3 SLC11A1 SLC12A3 SLC16A2 SLC18A2 SLC18A3 SLC20A2 SLC25A26 SLC25A4 SLC26A2 SLC26A4 SLC2A10 SLC34A3 SLC39A14 SLC3A1 SLC40A1 SLC5A5 SLC9A6 SLCO1B1 SLCO1B3 SLCO2A1 SMAD3 SMAD4 SNX10 SOD1 SOX10 SOX2 SOX3 SPAST SPG11 SPG7 SPIB SPINK1 SQSTM1 STAT4 STEAP3 STIM1 STK11 STX16 SULT2B1 SYNE1 SYNE2 SYNJ1 TAF15 TARDBP TAZ TBK1 TBL2 TBP TBX1 TBX18 TBX19 TBX6 TCF3 TCF4 TCIRG1 TEK TET2 TFR2 TG TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGM1 TH THPO TK2 TLR4 TMEM126B TMEM127 TMEM173 TMEM43 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFSF11 TNFSF12 TNFSF15 TNNC1 TNPO3 TNXB TP53 TP63 TPO TRAPPC11 TRAPPC2 TREH TREM2 TREX1 TRIM28 TRIM32 TRIP13 TRNE TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNW TRPA1 TRPS1 TRPV4 TSC1 TSC2 TSHB TSHR TSR2 TTR TWNK TYMP TYROBP UBAC2 UBQLN2 UFD1 UFSP2 UNC13A USP8 VANGL1 VANGL2 VAPB VCP VDR VHL VPS13A WAS WASHC5 WIPF1 WNT1 WNT3A WT1 WWOX XPA XPC ZFYVE26 ZNF469 ZNF687

Diseases (555) :313 234 521 212350 259900 963 2965 75563 616000 803 600740 189427 3157 52416 306674 314632 565 231401 52417 545 33110 47 797 251636 617713 117 123320 614807 29073 3162 99880 143 91347 96253 668 610353 616323 122400 287 607426 616733 550 156 228308 228302 900 33402 910 329314 98895 391411 95716 253601 2686 144 90042 612840 89937 29072 95713 254704 124 3226 77261 98808 79299 324 95494 300942 171 488333 98791 226307 465508 3287 36426 324575 263455 93600 209950 186 263458 729 133100 306 2526 98870 44890 496689 779 97279 609260 79282 79283 497764 33226 1880 293978 615273 1451 47045 786 615962 67036 95720 189439 614921 447 615399 257 251950 254892 613157 163690 745 90695 743 69126 397 70567 401849 615552 526 100093 3389 263800 352649 617239 616794 3342 606069 300298 302060 199296 604250 101150 230839 285 1349 615040 538 90674 609286 263400 2388 906 31150 391665 210250 99901 99900 91387 155310 615688 100924 447760 229600 1416 85410 85408 611307 873 567 333 905 109150 39044 904 174900 168829 1333 654 100998 617174 2785 3318 618129 2593 616231 676 428 220393 488650 613327 1572 226300 609812 263463 143095 160800 255700 300009 300554 53 667 248250 602668 560 166100 215150 184840 90653 609162 2380 616583 166002 614135 93308 750 177170 79273 121300 255110 370980 352479 763 91 264700 600081 238722 99967 268882 85193 99977 277300 300376 243343 605850 289176 352470 615156 36412 91131 263494 615539 388 897 98863 612932 83469 321 502 131 193100 300696 606612 607155 370348 88628 93256 300623 319487 64739 608115 77259 230800 438274 314811 301500 562 79444 57782 94089 79443 2762 252605 614616 746 609015 231214 603903 232 235200 56 203500 85414 79276 176000 52430 1525 2796 259100 203300 800 296 163634 612852 71493 79455 612933 1306 280365 2348 98853 98855 90153 151660 79087 268200 77297 609628 2924 166300 93311 607078 223100 342 249100 134610 99947 2398 248360 617018 259600 79312 616834 502423 617675 343 260920 610377 543 229 193700 59135 160500 608758 609200 616050 616115 611762 575 617772 191900 120100 256700 90340 955 260005 617099 607685 89936 307800 616809 614878 613874 101081 98908 610717 615139 603041 613662 298 610131 86812 2092 79083 79473 176200 90354 614170 615 615559 174050 612067 280397 167800 617591 2615 256040 79106 2499 615895 171400 616479 420741 1824 85445 99734 99735 99736 682 684 168300 608390 167400 133020 97286 2901 79 100050 106100 265900 615418 93307 226900 157215 241530 144755 139491 3111 614441 284984 613795 163746 608189 167250 185070 2869 175200 143400 1059 1328 131300 254875 618250 615934 604400 174810 32960 142680 613243 606408 1501 369840 369847 615356 93284 313400 612119 2770 610448 192315 2596 225 190350 617974 600145 329475 329478 435387 167320 93160 277440 616833 300100 201475 528 447753 601162 607225 45 206549 306511 613647 309256 309263 309271 250100 182600 320360 100075 603516 98760 250950 314652 261330 169189 289560 458803 616795 606072 652 276152 600795 444099 270800 857 615033 314404 101003 178400 401785 785 610618 171629 612319 609033 3027 320391 352641 614409 206583 613206 3166 444490 464282 268800 2704 100994 605280 600142 617927 604320 213504 93930 98768 98772 604187 79474 238600 600 176450 616688 300912 100988 600363 276198 125310 234200 213600 614920 261670 300559 99015 616640 210571 249900 232600 613115 329336 100993 604805 255320 98 615284 243000 59 300243 182601 604360 99013 607259 617145 160565 607136 122600 254110 606071 105210 221770 182940 100989 603563 270700
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.