Human Phenotype Ontology 
Grandparent Node:
expand
Constitutional symptom (HP:0025142)help
Parent Node:
expand
Abnormality of the vertebral column (HP:0000925)help
Parent Node:
expand
Pain (HP:0012531)help
..Starting node
..expand
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 H540905ORPHA11579870606882
HP:0003418HP:0003418Back pain0ATP7B CL E G H540905ORPHA11389870606882
HP:0003418HP:0003418Back pain0BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA1125861100113705
HP:0003418HP:0003418Back pain0BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA1122071100113705
HP:0003418HP:0003418Back pain0BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA1147421101600185
HP:0003418HP:0003418Back pain0BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA1139121101600185
HP:0003418HP:0003418Back pain0CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM111421480114240
HP:0003418HP:0003418Back pain0CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM110471480114240
HP:0003418HP:0003418Back pain0CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA110621787600160
HP:0003418HP:0003418Back pain0CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA19711787600160
HP:0003418HP:0003418Back pain0EMD CL E G H201098863ORPHA15793331300384
HP:0003418HP:0003418Back pain0EMD CL E G H201098863ORPHA15303331300384
HP:0003418HP:0003418Back pain0FHL1 CL E G H227398863ORPHA14863702300163
HP:0003418HP:0003418Back pain0FHL1 CL E G H227398863ORPHA14373702300163
HP:0003418HP:0003418Back pain0FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14863702300163
HP:0003418HP:0003418Back pain0FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14373702300163
HP:0003418HP:0003418Back pain0HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12314892607474
HP:0003418HP:0003418Back pain0HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12094892607474
HP:0003418HP:0003418Back pain0KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA13416407190070
HP:0003418HP:0003418Back pain0KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA13316407190070
HP:0003418HP:0003418Back pain0LMNA CL E G H400098855ORPHA114866636150330
HP:0003418HP:0003418Back pain0LMNA CL E G H400098853ORPHA114866636150330
HP:0003418HP:0003418Back pain0LMNA CL E G H400098855ORPHA113476636150330
HP:0003418HP:0003418Back pain0LMNA CL E G H400098853ORPHA113476636150330
HP:0003418HP:0003418Back pain0PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA1424526144610355
HP:0003418HP:0003418Back pain0PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA1392526144610355
HP:0003418HP:0003418Back pain0PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA161417068608092
HP:0003418HP:0003418Back pain0PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA154617068608092
HP:0003418HP:0003418Back pain0PRKCSH CL E G H5589174050Polycystic liver disease 1174050C4310613OMIM11859411177060
HP:0003418HP:0003418Back pain0PRKCSH CL E G H5589174050Polycystic liver disease 1174050C4310613OMIM11579411177060
HP:0003418HP:0003418Back pain0SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA114956770600993
HP:0003418HP:0003418Back pain0SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA113596770600993
HP:0003418HP:0003418Back pain0SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0003418HP:0003418Back pain0SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0003418HP:0003418Back pain0SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0003418HP:0003418Back pain0SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0003418HP:0003418Back pain0TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0003418HP:0003418Back pain0TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0003418HP:0003418Back pain0TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA1246411998191170
HP:0003418HP:0003418Back pain0TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA1228011998191170
HP:0003418HP:0003418Back pain0VANGL1 CL E G H81839600145Sacral defect with anterior meningocele600145C1838568OMIM126015512610132
HP:0003418HP:0003418Back pain0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM139512666601023
HP:0003418HP:0003418Back pain0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM135612666601023
HP:0003418HP:0003419Low back pain1ATP7B CL E G H540905ORPHA11579870606882
HP:0003418HP:0003419Low back pain1ATP7B CL E G H540905ORPHA11389870606882
HP:0003418HP:0033746Intrascapular pain1ATP7B CL E G H540905ORPHA11579870606882
HP:0003418HP:0011868Sciatica1ATP7B CL E G H540905ORPHA11579870606882
HP:0003418HP:0033746Intrascapular pain1ATP7B CL E G H540905ORPHA11389870606882
HP:0003418HP:0011868Sciatica1ATP7B CL E G H540905ORPHA11389870606882
HP:0003418HP:0003419Low back pain1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA1125861100113705
HP:0003418HP:0003419Low back pain1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA1122071100113705
HP:0003418HP:0033746Intrascapular pain1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA1125861100113705
HP:0003418HP:0011868Sciatica1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA1125861100113705
HP:0003418HP:0033746Intrascapular pain1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA1122071100113705
HP:0003418HP:0011868Sciatica1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA1122071100113705
HP:0003418HP:0003419Low back pain1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA1147421101600185
HP:0003418HP:0003419Low back pain1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA1139121101600185
HP:0003418HP:0033746Intrascapular pain1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA1147421101600185
HP:0003418HP:0011868Sciatica1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA1147421101600185
HP:0003418HP:0033746Intrascapular pain1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA1139121101600185
HP:0003418HP:0011868Sciatica1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA1139121101600185
HP:0003418HP:0003419Low back pain1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM111421480114240
HP:0003418HP:0003419Low back pain1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM110471480114240
HP:0003418HP:0011868Sciatica1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM111421480114240
HP:0003418HP:0033746Intrascapular pain1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM111421480114240
HP:0003418HP:0011868Sciatica1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM110471480114240
HP:0003418HP:0033746Intrascapular pain1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM110471480114240
HP:0003418HP:0003419Low back pain1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA110621787600160
HP:0003418HP:0003419Low back pain1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA19711787600160
HP:0003418HP:0033746Intrascapular pain1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA110621787600160
HP:0003418HP:0011868Sciatica1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA110621787600160
HP:0003418HP:0033746Intrascapular pain1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA19711787600160
HP:0003418HP:0011868Sciatica1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA19711787600160
HP:0003418HP:0003419Low back pain1EMD CL E G H201098863ORPHA15793331300384
HP:0003418HP:0003419Low back pain1EMD CL E G H201098863ORPHA15303331300384
HP:0003418HP:0033746Intrascapular pain1EMD CL E G H201098863ORPHA15793331300384
HP:0003418HP:0011868Sciatica1EMD CL E G H201098863ORPHA15793331300384
HP:0003418HP:0033746Intrascapular pain1EMD CL E G H201098863ORPHA15303331300384
HP:0003418HP:0011868Sciatica1EMD CL E G H201098863ORPHA15303331300384
HP:0003418HP:0003419Low back pain1FHL1 CL E G H227398863ORPHA14863702300163
HP:0003418HP:0003419Low back pain1FHL1 CL E G H227398863ORPHA14373702300163
HP:0003418HP:0033746Intrascapular pain1FHL1 CL E G H227398863ORPHA14863702300163
HP:0003418HP:0011868Sciatica1FHL1 CL E G H227398863ORPHA14863702300163
HP:0003418HP:0011868Sciatica1FHL1 CL E G H227398863ORPHA14373702300163
HP:0003418HP:0033746Intrascapular pain1FHL1 CL E G H227398863ORPHA14373702300163
HP:0003418HP:0003419Low back pain1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14863702300163
HP:0003418HP:0003419Low back pain1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14373702300163
HP:0003418HP:0033746Intrascapular pain1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14863702300163
HP:0003418HP:0011868Sciatica1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14863702300163
HP:0003418HP:0033746Intrascapular pain1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14373702300163
HP:0003418HP:0011868Sciatica1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14373702300163
HP:0003418HP:0003419Low back pain1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12314892607474
HP:0003418HP:0003419Low back pain1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12094892607474
HP:0003418HP:0011868Sciatica1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12314892607474
HP:0003418HP:0033746Intrascapular pain1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12314892607474
HP:0003418HP:0011868Sciatica1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12094892607474
HP:0003418HP:0033746Intrascapular pain1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12094892607474
HP:0003418HP:0003419Low back pain1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA13416407190070
HP:0003418HP:0003419Low back pain1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA13316407190070
HP:0003418HP:0033746Intrascapular pain1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA13416407190070
HP:0003418HP:0011868Sciatica1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA13416407190070
HP:0003418HP:0011868Sciatica1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA13316407190070
HP:0003418HP:0033746Intrascapular pain1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA13316407190070
HP:0003418HP:0003419Low back pain1LMNA CL E G H400098855ORPHA114866636150330
HP:0003418HP:0003419Low back pain1LMNA CL E G H400098853ORPHA114866636150330
HP:0003418HP:0003419Low back pain1LMNA CL E G H400098855ORPHA113476636150330
HP:0003418HP:0003419Low back pain1LMNA CL E G H400098853ORPHA113476636150330
HP:0003418HP:0033746Intrascapular pain1LMNA CL E G H400098855ORPHA114866636150330
HP:0003418HP:0011868Sciatica1LMNA CL E G H400098855ORPHA114866636150330
HP:0003418HP:0033746Intrascapular pain1LMNA CL E G H400098853ORPHA114866636150330
HP:0003418HP:0011868Sciatica1LMNA CL E G H400098853ORPHA114866636150330
HP:0003418HP:0033746Intrascapular pain1LMNA CL E G H400098855ORPHA113476636150330
HP:0003418HP:0011868Sciatica1LMNA CL E G H400098855ORPHA113476636150330
HP:0003418HP:0033746Intrascapular pain1LMNA CL E G H400098853ORPHA113476636150330
HP:0003418HP:0011868Sciatica1LMNA CL E G H400098853ORPHA113476636150330
HP:0003418HP:0003419Low back pain1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA1424526144610355
HP:0003418HP:0003419Low back pain1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA1392526144610355
HP:0003418HP:0033746Intrascapular pain1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA1424526144610355
HP:0003418HP:0011868Sciatica1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA1424526144610355
HP:0003418HP:0033746Intrascapular pain1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA1392526144610355
HP:0003418HP:0011868Sciatica1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA1392526144610355
HP:0003418HP:0003419Low back pain1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA161417068608092
HP:0003418HP:0003419Low back pain1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA154617068608092
HP:0003418HP:0011868Sciatica1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA161417068608092
HP:0003418HP:0033746Intrascapular pain1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA161417068608092
HP:0003418HP:0011868Sciatica1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA154617068608092
HP:0003418HP:0033746Intrascapular pain1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA154617068608092
HP:0003418HP:0003419Low back pain1PRKCSH CL E G H5589174050Polycystic liver disease 1174050C4310613OMIM11859411177060
HP:0003418HP:0003419Low back pain1PRKCSH CL E G H5589174050Polycystic liver disease 1174050C4310613OMIM11579411177060
HP:0003418HP:0033746Intrascapular pain1PRKCSH CL E G H5589174050Polycystic liver disease 1174050C4310613OMIM11859411177060
HP:0003418HP:0011868Sciatica1PRKCSH CL E G H5589174050Polycystic liver disease 1174050C4310613OMIM11859411177060
HP:0003418HP:0033746Intrascapular pain1PRKCSH CL E G H5589174050Polycystic liver disease 1174050C4310613OMIM11579411177060
HP:0003418HP:0011868Sciatica1PRKCSH CL E G H5589174050Polycystic liver disease 1174050C4310613OMIM11579411177060
HP:0003418HP:0003419Low back pain1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA114956770600993
HP:0003418HP:0003419Low back pain1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA113596770600993
HP:0003418HP:0033746Intrascapular pain1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA114956770600993
HP:0003418HP:0011868Sciatica1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA114956770600993
HP:0003418HP:0033746Intrascapular pain1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA113596770600993
HP:0003418HP:0011868Sciatica1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA113596770600993
HP:0003418HP:0003419Low back pain1SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0003418HP:0003419Low back pain1SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0003418HP:0011868Sciatica1SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0003418HP:0033746Intrascapular pain1SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0003418HP:0011868Sciatica1SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0003418HP:0033746Intrascapular pain1SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0003418HP:0003419Low back pain1SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0003418HP:0003419Low back pain1SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0003418HP:0033746Intrascapular pain1SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0003418HP:0011868Sciatica1SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0003418HP:0033746Intrascapular pain1SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0003418HP:0011868Sciatica1SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0003418HP:0003419Low back pain1TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0003418HP:0003419Low back pain1TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0003418HP:0033746Intrascapular pain1TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0003418HP:0011868Sciatica1TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0003418HP:0033746Intrascapular pain1TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0003418HP:0011868Sciatica1TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0003418HP:0003419Low back pain1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA1246411998191170
HP:0003418HP:0003419Low back pain1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA1228011998191170
HP:0003418HP:0033746Intrascapular pain1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA1246411998191170
HP:0003418HP:0011868Sciatica1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA1246411998191170
HP:0003418HP:0033746Intrascapular pain1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA1228011998191170
HP:0003418HP:0011868Sciatica1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA1228011998191170
HP:0003418HP:0011868Sciatica1VANGL1 CL E G H81839600145Sacral defect with anterior meningocele600145C1838568OMIM126015512610132
HP:0003418HP:0003419Low back pain1VANGL1 CL E G H81839600145Sacral defect with anterior meningocele600145C1838568OMIM126015512610132
HP:0003418HP:0033746Intrascapular pain1VANGL1 CL E G H81839600145Sacral defect with anterior meningocele600145C1838568OMIM126015512610132
HP:0003418HP:0003419Low back pain1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM139512666601023
HP:0003418HP:0003419Low back pain1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM135612666601023
HP:0003418HP:0033746Intrascapular pain1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM139512666601023
HP:0003418HP:0011868Sciatica1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM139512666601023
HP:0003418HP:0033746Intrascapular pain1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM135612666601023
HP:0003418HP:0011868Sciatica1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM135612666601023
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003418HP:0003418Back pain0DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM02282909602768
HP:0003418HP:0003418Back pain0DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM01852909602768
HP:0003418HP:0003418Back pain0FLI1 CL E G H2313370348ORPHA01743749193067
HP:0003418HP:0003418Back pain0FLI1 CL E G H2313370348ORPHA01723749193067
HP:0003418HP:0003418Back pain0LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA011276697603506
HP:0003418HP:0003418Back pain0LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA08616697603506
HP:0003418HP:0003418Back pain0MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM028529659605195
HP:0003418HP:0003418Back pain0MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM025729659605195
HP:0003418HP:0003418Back pain0PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA01859411177060
HP:0003418HP:0003418Back pain0PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA01579411177060
HP:0003418HP:0003418Back pain0SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA031621082608648
HP:0003418HP:0003418Back pain0SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA027521082608648
HP:0003418HP:0003418Back pain0VCP CL E G H7415329478ORPHA039512666601023
HP:0003418HP:0003418Back pain0VCP CL E G H7415329478ORPHA035612666601023
HP:0003418HP:0003419Low back pain1DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM02282909602768
HP:0003418HP:0003419Low back pain1DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM01852909602768
HP:0003418HP:0033746Intrascapular pain1DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM02282909602768
HP:0003418HP:0011868Sciatica1DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM02282909602768
HP:0003418HP:0033746Intrascapular pain1DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM01852909602768
HP:0003418HP:0011868Sciatica1DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM01852909602768
HP:0003418HP:0003419Low back pain1FLI1 CL E G H2313370348ORPHA01743749193067
HP:0003418HP:0003419Low back pain1FLI1 CL E G H2313370348ORPHA01723749193067
HP:0003418HP:0011868Sciatica1FLI1 CL E G H2313370348ORPHA01743749193067
HP:0003418HP:0033746Intrascapular pain1FLI1 CL E G H2313370348ORPHA01743749193067
HP:0003418HP:0011868Sciatica1FLI1 CL E G H2313370348ORPHA01723749193067
HP:0003418HP:0033746Intrascapular pain1FLI1 CL E G H2313370348ORPHA01723749193067
HP:0003418HP:0003419Low back pain1LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA011276697603506
HP:0003418HP:0003419Low back pain1LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA08616697603506
HP:0003418HP:0033746Intrascapular pain1LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA011276697603506
HP:0003418HP:0011868Sciatica1LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA011276697603506
HP:0003418HP:0033746Intrascapular pain1LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA08616697603506
HP:0003418HP:0011868Sciatica1LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA08616697603506
HP:0003418HP:0003419Low back pain1MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM028529659605195
HP:0003418HP:0003419Low back pain1MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM025729659605195
HP:0003418HP:0011868Sciatica1MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM028529659605195
HP:0003418HP:0033746Intrascapular pain1MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM028529659605195
HP:0003418HP:0033746Intrascapular pain1MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM025729659605195
HP:0003418HP:0011868Sciatica1MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM025729659605195
HP:0003418HP:0003419Low back pain1PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA01859411177060
HP:0003418HP:0003419Low back pain1PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA01579411177060
HP:0003418HP:0033746Intrascapular pain1PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA01859411177060
HP:0003418HP:0011868Sciatica1PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA01859411177060
HP:0003418HP:0033746Intrascapular pain1PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA01579411177060
HP:0003418HP:0011868Sciatica1PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA01579411177060
HP:0003418HP:0003419Low back pain1SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA031621082608648
HP:0003418HP:0003419Low back pain1SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA027521082608648
HP:0003418HP:0033746Intrascapular pain1SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA031621082608648
HP:0003418HP:0011868Sciatica1SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA031621082608648
HP:0003418HP:0011868Sciatica1SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA027521082608648
HP:0003418HP:0033746Intrascapular pain1SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA027521082608648
HP:0003418HP:0003419Low back pain1VCP CL E G H7415329478ORPHA039512666601023
HP:0003418HP:0003419Low back pain1VCP CL E G H7415329478ORPHA035612666601023
HP:0003418HP:0033746Intrascapular pain1VCP CL E G H7415329478ORPHA039512666601023
HP:0003418HP:0011868Sciatica1VCP CL E G H7415329478ORPHA039512666601023
HP:0003418HP:0033746Intrascapular pain1VCP CL E G H7415329478ORPHA035612666601023
HP:0003418HP:0011868Sciatica1VCP CL E G H7415329478ORPHA035612666601023


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 98855 98853 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 August 2021 release.