Human Phenotype Ontology 
Grandparent Node:
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Constitutional symptom (HP:0025142)help
Parent Node:
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Abnormality of the vertebral column (HP:0000925)help
Parent Node:
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Pain (HP:0012531)help
..Starting node
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Back pain (HP:0003418)help
Term ID: 3418
Name: Back pain
Synonym: Back pain
Definition: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.
Comments:
Reference: HP:0003418
Genes and Diseases:
 
       Child Nodes:
........expandLow back pain (HP:0003419) help
........expandSciatica (HP:0011868) help

 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
..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:0003418HP:0003418Back pain0ATP7B CL E G H540905ORPHA1938870606882
HP:0003418HP:0003418Back pain0BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA128241100113705
HP:0003418HP:0003418Back pain0BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA130251101600185
HP:0003418HP:0003418Back pain0CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM14511480114240
HP:0003418HP:0003418Back pain0CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA12431787600160
HP:0003418HP:0003418Back pain0EMD CL E G H201098863ORPHA11133331300384
HP:0003418HP:0003418Back pain0FHL1 CL E G H227398863ORPHA1623702300163
HP:0003418HP:0003418Back pain0FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM1623702300163
HP:0003418HP:0003418Back pain0HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM11384892607474
HP:0003418HP:0003418Back pain0KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA1456407190070
HP:0003418HP:0003418Back pain0LMNA CL E G H400098855ORPHA15746636150330
HP:0003418HP:0003418Back pain0LMNA CL E G H400098853ORPHA15746636150330
HP:0003418HP:0003418Back pain0PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA141726144610355
HP:0003418HP:0003418Back pain0PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA1417068608092
HP:0003418HP:0003418Back pain0PRKCSH CL E G H5589174050Polycystic liver disease 1174050C4310613OMIM1289411177060
HP:0003418HP:0003418Back pain0SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA11476770600993
HP:0003418HP:0003418Back pain0SYNE1 CL E G H2334598853ORPHA114417089608441
HP:0003418HP:0003418Back pain0SYNE2 CL E G H2322498853ORPHA11117084608442
HP:0003418HP:0003418Back pain0TMEM43 CL E G H7918898853ORPHA12428472612048
HP:0003418HP:0003418Back pain0TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA154111998191170
HP:0003418HP:0003418Back pain0VANGL1 CL E G H81839600145Sacral defect with anterior meningocele600145C1838568OMIM12015512610132
HP:0003418HP:0003418Back pain0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM16512666601023
HP:0003418HP:0003418Back pain1ATP7B CL E G H540905ORPHA1938870606882
HP:0003418HP:0003418Back pain1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA128241100113705
HP:0003418HP:0003418Back pain1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA130251101600185
HP:0003418HP:0003418Back pain1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM14511480114240
HP:0003418HP:0003418Back pain1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA12431787600160
HP:0003418HP:0003418Back pain1EMD CL E G H201098863ORPHA11133331300384
HP:0003418HP:0003418Back pain1FHL1 CL E G H227398863ORPHA1623702300163
HP:0003418HP:0003418Back pain1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM1623702300163
HP:0003418HP:0003418Back pain1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM11384892607474
HP:0003418HP:0003418Back pain1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA1456407190070
HP:0003418HP:0003418Back pain1LMNA CL E G H400098855ORPHA15746636150330
HP:0003418HP:0003418Back pain1LMNA CL E G H400098853ORPHA15746636150330
HP:0003418HP:0003418Back pain1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA141726144610355
HP:0003418HP:0003418Back pain1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA1417068608092
HP:0003418HP:0003418Back pain1PRKCSH CL E G H5589174050Polycystic liver disease 1174050C4310613OMIM1289411177060
HP:0003418HP:0003418Back pain1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA11476770600993
HP:0003418HP:0003418Back pain1SYNE1 CL E G H2334598853ORPHA114417089608441
HP:0003418HP:0003418Back pain1SYNE2 CL E G H2322498853ORPHA11117084608442
HP:0003418HP:0003418Back pain1TMEM43 CL E G H7918898853ORPHA12428472612048
HP:0003418HP:0003418Back pain1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA154111998191170
HP:0003418HP:0003418Back pain1VANGL1 CL E G H81839600145Sacral defect with anterior meningocele600145C1838568OMIM12015512610132
HP:0003418HP:0003418Back pain1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM16512666601023
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003418HP:0003418Back pain0DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM0262909602768
HP:0003418HP:0003418Back pain0FLI1 CL E G H2313370348ORPHA073749193067
HP:0003418HP:0003418Back pain0LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA02216697603506
HP:0003418HP:0003418Back pain0MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM0629659605195
HP:0003418HP:0003418Back pain0PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA0289411177060
HP:0003418HP:0003418Back pain0SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA02321082608648
HP:0003418HP:0003418Back pain0VCP CL E G H7415329478ORPHA06512666601023
HP:0003418HP:0003418Back pain1DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM0262909602768
HP:0003418HP:0003418Back pain1FLI1 CL E G H2313370348ORPHA073749193067
HP:0003418HP:0003418Back pain1LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA02216697603506
HP:0003418HP:0003418Back pain1MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM0629659605195
HP:0003418HP:0003418Back pain1PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA0289411177060
HP:0003418HP:0003418Back pain1SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA02321082608648
HP:0003418HP:0003418Back pain1VCP CL E G H7415329478ORPHA06512666601023


Genes (29) :ALDH18A1 ATP7B BRCA1 BRCA2 CAPN3 CDKN2A DLL3 EMD FHL1 FLI1 HGD HTRA1 KRAS LMNA LRP5 MESP2 PALB2 PALLD PRKCSH SEC63 SMAD4 SPAST SYNE1 SYNE2 TBX6 TMEM43 TP53 VANGL1 VCP

Diseases (19) :905 1333 618129 277300 98863 300696 370348 203500 98853 98855 2924 174050 600145 329478 167320 447753 600142 182601 122600
 

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