Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the vertebral column (HP:0000925)help
Parent Node:
expand
Abnormality of the curvature of the vertebral column (HP:0010674)help
..Starting node
..expand
Hyperlordosis (HP:0003307)help
Term ID: 3307
Name: Hyperlordosis
Synonym: Lordosis; Prominent swayback
Definition: Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.
Comments:
Reference: HP:0003307
Genes and Diseases:
 
       Child Nodes:
........expandLumbar hyperlordosis (HP:0002938) help

 Sister Nodes: 
..expandAbnormal cervical curvature (HP:0005905) help
..expandAbnormally straight spine (HP:0100795) help
..expandCamptocormia (HP:0100595) help
..expandKyphosis (HP:0002808) help
..expandScoliosis (HP:0002650) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003307HP:0003307Hyperlordosis0ACP5 CL E G H541855ORPHA128103124171640
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H5897244ORPHA1217272129102610
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1217272129102610
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1217272129102610
HP:0003307HP:0003307Hyperlordosis0B3GALT6 CL E G H12679293359ORPHA14023217978615291
HP:0003307HP:0003307Hyperlordosis0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0003307HP:0003307Hyperlordosis0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM1173151052601248
HP:0003307HP:0003307Hyperlordosis0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12816619721613165
HP:0003307HP:0003307Hyperlordosis0CAPN3 CL E G H825267ORPHA14517641480114240
HP:0003307HP:0003307Hyperlordosis0CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM14517641480114240
HP:0003307HP:0003307Hyperlordosis0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115949688603198
HP:0003307HP:0003307Hyperlordosis0CCDC8 CL E G H839872616ORPHA133625367614145
HP:0003307HP:0003307Hyperlordosis0CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM133625367614145
HP:0003307HP:0003307Hyperlordosis0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0003307HP:0003307Hyperlordosis0COL11A2 CL E G H13021427ORPHA1594712187120290
HP:0003307HP:0003307Hyperlordosis0COL1A1 CL E G H1277287ORPHA196711052197120150
HP:0003307HP:0003307Hyperlordosis0COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM15237942198120160
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H128094068ORPHA15707312200120140
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H128093315ORPHA15707312200120140
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H1280485ORPHA15707312200120140
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H128093346ORPHA15707312200120140
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H1280184250Spondylometaphyseal dysplasia184250C0700635OMIM15707312200120140
HP:0003307HP:0003307Hyperlordosis0COL5A1 CL E G H1289287ORPHA115916302209120215
HP:0003307HP:0003307Hyperlordosis0COL5A2 CL E G H1290287ORPHA1397932210120190
HP:0003307HP:0003307Hyperlordosis0COLEC10 CL E G H10584293843ORPHA14532220607620
HP:0003307HP:0003307Hyperlordosis0COLEC11 CL E G H78989293843ORPHA1135917213612502
HP:0003307HP:0003307Hyperlordosis0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM1702622226603033
HP:0003307HP:0003307Hyperlordosis0COMP CL E G H1311750ORPHA11881862227600310
HP:0003307HP:0003307Hyperlordosis0CUL7 CL E G H98202616ORPHA18524821024609577
HP:0003307HP:0003307Hyperlordosis0CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM18524821024609577
HP:0003307HP:0003307Hyperlordosis0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM1397037602928300377
HP:0003307HP:0003307Hyperlordosis0DNA2 CL E G H1763352470ORPHA181462939601810
HP:0003307HP:0003307Hyperlordosis0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM1525062974602378
HP:0003307HP:0003307Hyperlordosis0DUX4 CL E G H100288687269ORPHA150800606009
HP:0003307HP:0003307Hyperlordosis0DYM CL E G H54808239ORPHA13712421317607461
HP:0003307HP:0003307Hyperlordosis0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM1811253255604032
HP:0003307HP:0003307Hyperlordosis0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0003307HP:0003307Hyperlordosis0FGFR2 CL E G H2263794ORPHA11593363689176943
HP:0003307HP:0003307Hyperlordosis0FGFR3 CL E G H2261794ORPHA1774313690134934
HP:0003307HP:0003307Hyperlordosis0FGFR3 CL E G H226115Antisocial personality disorderORPHA1774313690134934
HP:0003307HP:0003307Hyperlordosis0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM1623703702300163
HP:0003307HP:0003307Hyperlordosis0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM114140217997606596
HP:0003307HP:0003307Hyperlordosis0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM114140217997606596
HP:0003307HP:0003307Hyperlordosis0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM1594503622607440
HP:0003307HP:0003307Hyperlordosis0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM11225203755603381
HP:0003307HP:0003307Hyperlordosis0FN1 CL E G H233593315ORPHA1261283778135600
HP:0003307HP:0003307Hyperlordosis0FRG1 CL E G H2483269ORPHA121193954601278
HP:0003307HP:0003307Hyperlordosis0GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM13443684122612222
HP:0003307HP:0003307Hyperlordosis0GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM12313084298611458
HP:0003307HP:0003307Hyperlordosis0GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM14927123026607838
HP:0003307HP:0003307Hyperlordosis0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0003307HP:0003307Hyperlordosis0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0003307HP:0003307Hyperlordosis0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM191734867605109
HP:0003307HP:0003307Hyperlordosis0HNRNPA1 CL E G H317852430ORPHA112535031164017
HP:0003307HP:0003307Hyperlordosis0HNRNPA2B1 CL E G H318152430ORPHA15735033600124
HP:0003307HP:0003307Hyperlordosis0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141745042300610
HP:0003307HP:0003307Hyperlordosis0HSPG2 CL E G H3339800ORPHA1678625273142461
HP:0003307HP:0003307Hyperlordosis0IHH CL E G H354963446ORPHA1331155956600726
HP:0003307HP:0003307Hyperlordosis0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM11013633882607875
HP:0003307HP:0003307Hyperlordosis0KIF1A CL E G H547970ORPHA1431059888601255
HP:0003307HP:0003307Hyperlordosis0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM133926576605739
HP:0003307HP:0003307Hyperlordosis0L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM12935196470308840
HP:0003307HP:0003307Hyperlordosis0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0003307HP:0003307Hyperlordosis0LMNA CL E G H4000157973ORPHA157411526636150330
HP:0003307HP:0003307Hyperlordosis0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM173617797609479
HP:0003307HP:0003307Hyperlordosis0MASP1 CL E G H5648293843ORPHA1221226901600521
HP:0003307HP:0003307Hyperlordosis0MMP13 CL E G H43222501Glucose-6-phosphate translocase deficiencyORPHA110957159600108
HP:0003307HP:0003307Hyperlordosis0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM132130107720161650
HP:0003307HP:0003307Hyperlordosis0NPR2 CL E G H488240ORPHA1762227944108961
HP:0003307HP:0003307Hyperlordosis0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM13125613398300275
HP:0003307HP:0003307Hyperlordosis0OBSL1 CL E G H233632616ORPHA13533129092610991
HP:0003307HP:0003307Hyperlordosis0PCYT1A CL E G H513085167ORPHA1201438754123695
HP:0003307HP:0003307Hyperlordosis0PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM11256329105611101
HP:0003307HP:0003307Hyperlordosis0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM18946119139606822
HP:0003307HP:0003307Hyperlordosis0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM17550219743607439
HP:0003307HP:0003307Hyperlordosis0POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM175030129602486
HP:0003307HP:0003307Hyperlordosis0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163849277605100
HP:0003307HP:0003307Hyperlordosis0RAB3GAP1 CL E G H229301387Cleft palate cardiac defect ectrodactylyORPHA16719317063602536
HP:0003307HP:0003307Hyperlordosis0RAB3GAP2 CL E G H257821387Cleft palate cardiac defect ectrodactylyORPHA11629417168609275
HP:0003307HP:0003307Hyperlordosis0RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM143214969967164761
HP:0003307HP:0003307Hyperlordosis0RETREG1 CL E G H54463970ORPHA1628925964613114
HP:0003307HP:0003307Hyperlordosis0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0003307HP:0003307Hyperlordosis0RMRP CL E G H6023175ORPHA112341110031157660
HP:0003307HP:0003307Hyperlordosis0SCN9A CL E G H6335970ORPHA1129109210597603415
HP:0003307HP:0003307Hyperlordosis0SELENON CL E G H5719097244ORPHA16335415999606210
HP:0003307HP:0003307Hyperlordosis0SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM13823625566615743
HP:0003307HP:0003307Hyperlordosis0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA110631610805600119
HP:0003307HP:0003307Hyperlordosis0SGCG CL E G H6445253700Severe autosomal recessive muscular dystrophy of childhood - North African type253700C0410173OMIM16930510809608896
HP:0003307HP:0003307Hyperlordosis0SMARCAL1 CL E G H504851830ORPHA18824411102606622
HP:0003307HP:0003307Hyperlordosis0SMCHD1 CL E G H23347269ORPHA112550029090614982
HP:0003307HP:0003307Hyperlordosis0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0003307HP:0003307Hyperlordosis0TBX6 CL E G H69111797Delleman Oorthuys syndromeORPHA13629611605602427
HP:0003307HP:0003307Hyperlordosis0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0003307HP:0003307Hyperlordosis0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM1181273098605204
HP:0003307HP:0003307Hyperlordosis0TRAPPC11 CL E G H60684369840ORPHA11735125751614138
HP:0003307HP:0003307Hyperlordosis0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM11735125751614138
HP:0003307HP:0003307Hyperlordosis0TRPS1 CL E G H722777258ORPHA114222112340604386
HP:0003307HP:0003307Hyperlordosis0TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM114222112340604386
HP:0003307HP:0003307Hyperlordosis0TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM18253918083605427
HP:0003307HP:0003307Hyperlordosis0TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM18253918083605427
HP:0003307HP:0003307Hyperlordosis0TWIST1 CL E G H7291794ORPHA120911512428601622
HP:0003307HP:0003307Hyperlordosis0VCP CL E G H741552430ORPHA16526012666601023
HP:0003307HP:0003307Hyperlordosis0WNK1 CL E G H65125970ORPHA11882014540605232
HP:0003307HP:0003307Hyperlordosis0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM11719424931300897
HP:0003307HP:0003307Hyperlordosis1ACP5 CL E G H541855ORPHA128103124171640
HP:0003307HP:0003307Hyperlordosis1ACTA1 CL E G H5897244ORPHA1217272129102610
HP:0003307HP:0003307Hyperlordosis1ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1217272129102610
HP:0003307HP:0003307Hyperlordosis1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1217272129102610
HP:0003307HP:0003307Hyperlordosis1B3GALT6 CL E G H12679293359ORPHA14023217978615291
HP:0003307HP:0003307Hyperlordosis1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0003307HP:0003307Hyperlordosis1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM1173151052601248
HP:0003307HP:0003307Hyperlordosis1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12816619721613165
HP:0003307HP:0003307Hyperlordosis1CAPN3 CL E G H825267ORPHA14517641480114240
HP:0003307HP:0003307Hyperlordosis1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM14517641480114240
HP:0003307HP:0003307Hyperlordosis1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115949688603198
HP:0003307HP:0003307Hyperlordosis1CCDC8 CL E G H839872616ORPHA133625367614145
HP:0003307HP:0003307Hyperlordosis1CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM133625367614145
HP:0003307HP:0003307Hyperlordosis1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0003307HP:0003307Hyperlordosis1COL11A2 CL E G H13021427ORPHA1594712187120290
HP:0003307HP:0003307Hyperlordosis1COL1A1 CL E G H1277287ORPHA196711052197120150
HP:0003307HP:0003307Hyperlordosis1COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM15237942198120160
HP:0003307HP:0003307Hyperlordosis1COL2A1 CL E G H128093315ORPHA15707312200120140
HP:0003307HP:0003307Hyperlordosis1COL2A1 CL E G H1280485ORPHA15707312200120140
HP:0003307HP:0003307Hyperlordosis1COL2A1 CL E G H128093346ORPHA15707312200120140
HP:0003307HP:0003307Hyperlordosis1COL2A1 CL E G H128094068ORPHA15707312200120140
HP:0003307HP:0003307Hyperlordosis1COL2A1 CL E G H1280184250Spondylometaphyseal dysplasia184250C0700635OMIM15707312200120140
HP:0003307HP:0003307Hyperlordosis1COL5A1 CL E G H1289287ORPHA115916302209120215
HP:0003307HP:0003307Hyperlordosis1COL5A2 CL E G H1290287ORPHA1397932210120190
HP:0003307HP:0003307Hyperlordosis1COLEC10 CL E G H10584293843ORPHA14532220607620
HP:0003307HP:0003307Hyperlordosis1COLEC11 CL E G H78989293843ORPHA1135917213612502
HP:0003307HP:0003307Hyperlordosis1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM1702622226603033
HP:0003307HP:0003307Hyperlordosis1COMP CL E G H1311750ORPHA11881862227600310
HP:0003307HP:0003307Hyperlordosis1CUL7 CL E G H98202616ORPHA18524821024609577
HP:0003307HP:0003307Hyperlordosis1CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM18524821024609577
HP:0003307HP:0003307Hyperlordosis1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM1397037602928300377
HP:0003307HP:0003307Hyperlordosis1DNA2 CL E G H1763352470ORPHA181462939601810
HP:0003307HP:0003307Hyperlordosis1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM1525062974602378
HP:0003307HP:0003307Hyperlordosis1DUX4 CL E G H100288687269ORPHA150800606009
HP:0003307HP:0003307Hyperlordosis1DYM CL E G H54808239ORPHA13712421317607461
HP:0003307HP:0003307Hyperlordosis1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM1811253255604032
HP:0003307HP:0003307Hyperlordosis1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0003307HP:0003307Hyperlordosis1FGFR2 CL E G H2263794ORPHA11593363689176943
HP:0003307HP:0003307Hyperlordosis1FGFR3 CL E G H2261794ORPHA1774313690134934
HP:0003307HP:0003307Hyperlordosis1FGFR3 CL E G H226115Antisocial personality disorderORPHA1774313690134934
HP:0003307HP:0003307Hyperlordosis1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM1623703702300163
HP:0003307HP:0003307Hyperlordosis1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM114140217997606596
HP:0003307HP:0003307Hyperlordosis1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM114140217997606596
HP:0003307HP:0003307Hyperlordosis1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM1594503622607440
HP:0003307HP:0003307Hyperlordosis1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM11225203755603381
HP:0003307HP:0003307Hyperlordosis1FN1 CL E G H233593315ORPHA1261283778135600
HP:0003307HP:0003307Hyperlordosis1FRG1 CL E G H2483269ORPHA121193954601278
HP:0003307HP:0003307Hyperlordosis1GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM13443684122612222
HP:0003307HP:0003307Hyperlordosis1GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM12313084298611458
HP:0003307HP:0003307Hyperlordosis1GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM14927123026607838
HP:0003307HP:0003307Hyperlordosis1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0003307HP:0003307Hyperlordosis1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0003307HP:0003307Hyperlordosis1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM191734867605109
HP:0003307HP:0003307Hyperlordosis1HNRNPA1 CL E G H317852430ORPHA112535031164017
HP:0003307HP:0003307Hyperlordosis1HNRNPA2B1 CL E G H318152430ORPHA15735033600124
HP:0003307HP:0003307Hyperlordosis1HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141745042300610
HP:0003307HP:0003307Hyperlordosis1HSPG2 CL E G H3339800ORPHA1678625273142461
HP:0003307HP:0003307Hyperlordosis1IHH CL E G H354963446ORPHA1331155956600726
HP:0003307HP:0003307Hyperlordosis1INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM11013633882607875
HP:0003307HP:0003307Hyperlordosis1KIF1A CL E G H547970ORPHA1431059888601255
HP:0003307HP:0003307Hyperlordosis1KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM133926576605739
HP:0003307HP:0003307Hyperlordosis1L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM12935196470308840
HP:0003307HP:0003307Hyperlordosis1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0003307HP:0003307Hyperlordosis1LMNA CL E G H4000157973ORPHA157411526636150330
HP:0003307HP:0003307Hyperlordosis1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM173617797609479
HP:0003307HP:0003307Hyperlordosis1MASP1 CL E G H5648293843ORPHA1221226901600521
HP:0003307HP:0003307Hyperlordosis1MMP13 CL E G H43222501Glucose-6-phosphate translocase deficiencyORPHA110957159600108
HP:0003307HP:0003307Hyperlordosis1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM132130107720161650
HP:0003307HP:0003307Hyperlordosis1NPR2 CL E G H488240ORPHA1762227944108961
HP:0003307HP:0003307Hyperlordosis1NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM13125613398300275
HP:0003307HP:0003307Hyperlordosis1OBSL1 CL E G H233632616ORPHA13533129092610991
HP:0003307HP:0003307Hyperlordosis1PCYT1A CL E G H513085167ORPHA1201438754123695
HP:0003307HP:0003307Hyperlordosis1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM11256329105611101
HP:0003307HP:0003307Hyperlordosis1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM18946119139606822
HP:0003307HP:0003307Hyperlordosis1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM17550219743607439
HP:0003307HP:0003307Hyperlordosis1POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM175030129602486
HP:0003307HP:0003307Hyperlordosis1PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163849277605100
HP:0003307HP:0003307Hyperlordosis1RAB3GAP1 CL E G H229301387Cleft palate cardiac defect ectrodactylyORPHA16719317063602536
HP:0003307HP:0003307Hyperlordosis1RAB3GAP2 CL E G H257821387Cleft palate cardiac defect ectrodactylyORPHA11629417168609275
HP:0003307HP:0003307Hyperlordosis1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM143214969967164761
HP:0003307HP:0003307Hyperlordosis1RETREG1 CL E G H54463970ORPHA1628925964613114
HP:0003307HP:0003307Hyperlordosis1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0003307HP:0003307Hyperlordosis1RMRP CL E G H6023175ORPHA112341110031157660
HP:0003307HP:0003307Hyperlordosis1SCN9A CL E G H6335970ORPHA1129109210597603415
HP:0003307HP:0003307Hyperlordosis1SELENON CL E G H5719097244ORPHA16335415999606210
HP:0003307HP:0003307Hyperlordosis1SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM13823625566615743
HP:0003307HP:0003307Hyperlordosis1SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA110631610805600119
HP:0003307HP:0003307Hyperlordosis1SGCG CL E G H6445253700Severe autosomal recessive muscular dystrophy of childhood - North African type253700C0410173OMIM16930510809608896
HP:0003307HP:0003307Hyperlordosis1SMARCAL1 CL E G H504851830ORPHA18824411102606622
HP:0003307HP:0003307Hyperlordosis1SMCHD1 CL E G H23347269ORPHA112550029090614982
HP:0003307HP:0003307Hyperlordosis1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0003307HP:0003307Hyperlordosis1TBX6 CL E G H69111797Delleman Oorthuys syndromeORPHA13629611605602427
HP:0003307HP:0003307Hyperlordosis1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0003307HP:0003307Hyperlordosis1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM1181273098605204
HP:0003307HP:0003307Hyperlordosis1TRAPPC11 CL E G H60684369840ORPHA11735125751614138
HP:0003307HP:0003307Hyperlordosis1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM11735125751614138
HP:0003307HP:0003307Hyperlordosis1TRPS1 CL E G H722777258ORPHA114222112340604386
HP:0003307HP:0003307Hyperlordosis1TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM114222112340604386
HP:0003307HP:0003307Hyperlordosis1TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM18253918083605427
HP:0003307HP:0003307Hyperlordosis1TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM18253918083605427
HP:0003307HP:0003307Hyperlordosis1TWIST1 CL E G H7291794ORPHA120911512428601622
HP:0003307HP:0003307Hyperlordosis1VCP CL E G H741552430ORPHA16526012666601023
HP:0003307HP:0003307Hyperlordosis1WNK1 CL E G H65125970ORPHA11882014540605232
HP:0003307HP:0003307Hyperlordosis1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM11719424931300897
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H58171436ORPHA0217272129102610
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H582020ORPHA0217272129102610
HP:0003307HP:0003307Hyperlordosis0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA043189325603100
HP:0003307HP:0003307Hyperlordosis0ALG2 CL E G H85365616228Myasthenic syndrome, congenital, 14616228C4015597OMIM0515323159607905
HP:0003307HP:0003307Hyperlordosis0AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA04121926837300647
HP:0003307HP:0003307Hyperlordosis0BCOR CL E G H54880568Aggressive fibromatosisORPHA05541520893300485
HP:0003307HP:0003307Hyperlordosis0BCR CL E G H613261330ORPHA022111014151410
HP:0003307HP:0003307Hyperlordosis0BICD2 CL E G H23299363454ORPHA03532317208609797
HP:0003307HP:0003307Hyperlordosis0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM03532317208609797
HP:0003307HP:0003307Hyperlordosis0BIN1 CL E G H274169186ORPHA0173151052601248
HP:0003307HP:0003307Hyperlordosis0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA05026315832606158
HP:0003307HP:0003307Hyperlordosis0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA013621527601047
HP:0003307HP:0003307Hyperlordosis0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA015949688603198
HP:0003307HP:0003307Hyperlordosis0CFL2 CL E G H1073171436ORPHA091081875601443
HP:0003307HP:0003307Hyperlordosis0CRKL CL E G H1399261330ORPHA0163762363602007
HP:0003307HP:0003307Hyperlordosis0CTSK CL E G H1513763ORPHA058972536601105
HP:0003307HP:0003307Hyperlordosis0ECEL1 CL E G H9427615065Distal arthrogryposis type 5D615065C3554415OMIM0331063147605896
HP:0003307HP:0003307Hyperlordosis0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA0811253255604032
HP:0003307HP:0003307Hyperlordosis0EMD CL E G H201098863ORPHA01134353331300384
HP:0003307HP:0003307Hyperlordosis0FGFR3 CL E G H2261429Amniotic band syndromeORPHA0774313690134934
HP:0003307HP:0003307Hyperlordosis0FHL1 CL E G H227398863ORPHA0623703702300163
HP:0003307HP:0003307Hyperlordosis0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA02283796164810
HP:0003307HP:0003307Hyperlordosis0HACD1 CL E G H92002020ORPHA01339639610467
HP:0003307HP:0003307Hyperlordosis0ITGA7 CL E G H36792020ORPHA0103706143600536
HP:0003307HP:0003307Hyperlordosis0KLHL41 CL E G H10324171436ORPHA099816905607701
HP:0003307HP:0003307Hyperlordosis0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA038014996482156225
HP:0003307HP:0003307Hyperlordosis0LMNA CL E G H400098855ORPHA057411526636150330
HP:0003307HP:0003307Hyperlordosis0LMNA CL E G H400098853ORPHA057411526636150330
HP:0003307HP:0003307Hyperlordosis0LMOD3 CL E G H56203171436ORPHA0181686649616112
HP:0003307HP:0003307Hyperlordosis0MAP3K20 CL E G H517762020ORPHA073617797609479
HP:0003307HP:0003307Hyperlordosis0MAPK1 CL E G H5594261330ORPHA031126871176948
HP:0003307HP:0003307Hyperlordosis0MYH7 CL E G H4625437572ORPHA0100224407577160760
HP:0003307HP:0003307Hyperlordosis0MYL2 CL E G H46332020ORPHA0672827583160781
HP:0003307HP:0003307Hyperlordosis0NAA10 CL E G H8260568Aggressive fibromatosisORPHA01029618704300013
HP:0003307HP:0003307Hyperlordosis0NEB CL E G H4703171436ORPHA032130107720161650
HP:0003307HP:0003307Hyperlordosis0NECTIN1 CL E G H58183253Limb dystoniaORPHA0151959706600644
HP:0003307HP:0003307Hyperlordosis0NOTCH3 CL E G H48542789ORPHA03795917883600276
HP:0003307HP:0003307Hyperlordosis0OBSL1 CL E G H23363612921Three M syndrome 2612921C2752041OMIM03533129092610991
HP:0003307HP:0003307Hyperlordosis0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA054909236601487
HP:0003307HP:0003307Hyperlordosis0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM053414951613257
HP:0003307HP:0003307Hyperlordosis0RYR1 CL E G H6261169186ORPHA0688309410483180901
HP:0003307HP:0003307Hyperlordosis0SCN4A CL E G H632999735ORPHA012984810591603967
HP:0003307HP:0003307Hyperlordosis0SCN4A CL E G H6329614198Congenital myasthenic syndrome, acetazolamide-responsive614198C3502630OMIM012984810591603967
HP:0003307HP:0003307Hyperlordosis0SELENON CL E G H571902020ORPHA06335415999606210
HP:0003307HP:0003307Hyperlordosis0SPEG CL E G H10290169186ORPHA01319816901615950
HP:0003307HP:0003307Hyperlordosis0SYNE1 CL E G H2334598853ORPHA0144283817089608441
HP:0003307HP:0003307Hyperlordosis0SYNE2 CL E G H2322498853ORPHA011132017084608442
HP:0003307HP:0003307Hyperlordosis0TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA0354711766190180
HP:0003307HP:0003307Hyperlordosis0TMEM43 CL E G H7918898853ORPHA02448728472612048
HP:0003307HP:0003307Hyperlordosis0TPM2 CL E G H71692020ORPHA04019912011190990
HP:0003307HP:0003307Hyperlordosis0TPM2 CL E G H7169171436ORPHA04019912011190990
HP:0003307HP:0003307Hyperlordosis0TPM3 CL E G H71702020ORPHA02822512012191030
HP:0003307HP:0003307Hyperlordosis0TTN CL E G H7273169186ORPHA03461438512403188840
HP:0003307HP:0003307Hyperlordosis1ACTA1 CL E G H582020ORPHA0217272129102610
HP:0003307HP:0003307Hyperlordosis1ACTA1 CL E G H58171436ORPHA0217272129102610
HP:0003307HP:0003307Hyperlordosis1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA043189325603100
HP:0003307HP:0003307Hyperlordosis1ALG2 CL E G H85365616228Myasthenic syndrome, congenital, 14616228C4015597OMIM0515323159607905
HP:0003307HP:0003307Hyperlordosis1AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA04121926837300647
HP:0003307HP:0003307Hyperlordosis1BCOR CL E G H54880568Aggressive fibromatosisORPHA05541520893300485
HP:0003307HP:0003307Hyperlordosis1BCR CL E G H613261330ORPHA022111014151410
HP:0003307HP:0003307Hyperlordosis1BICD2 CL E G H23299363454ORPHA03532317208609797
HP:0003307HP:0003307Hyperlordosis1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM03532317208609797
HP:0003307HP:0003307Hyperlordosis1BIN1 CL E G H274169186ORPHA0173151052601248
HP:0003307HP:0003307Hyperlordosis1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA05026315832606158
HP:0003307HP:0003307Hyperlordosis1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA013621527601047
HP:0003307HP:0003307Hyperlordosis1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA015949688603198
HP:0003307HP:0003307Hyperlordosis1CFL2 CL E G H1073171436ORPHA091081875601443
HP:0003307HP:0003307Hyperlordosis1CRKL CL E G H1399261330ORPHA0163762363602007
HP:0003307HP:0003307Hyperlordosis1CTSK CL E G H1513763ORPHA058972536601105
HP:0003307HP:0003307Hyperlordosis1ECEL1 CL E G H9427615065Distal arthrogryposis type 5D615065C3554415OMIM0331063147605896
HP:0003307HP:0003307Hyperlordosis1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA0811253255604032
HP:0003307HP:0003307Hyperlordosis1EMD CL E G H201098863ORPHA01134353331300384
HP:0003307HP:0003307Hyperlordosis1FGFR3 CL E G H2261429Amniotic band syndromeORPHA0774313690134934
HP:0003307HP:0003307Hyperlordosis1FHL1 CL E G H227398863ORPHA0623703702300163
HP:0003307HP:0003307Hyperlordosis1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA02283796164810
HP:0003307HP:0003307Hyperlordosis1HACD1 CL E G H92002020ORPHA01339639610467
HP:0003307HP:0003307Hyperlordosis1ITGA7 CL E G H36792020ORPHA0103706143600536
HP:0003307HP:0003307Hyperlordosis1KLHL41 CL E G H10324171436ORPHA099816905607701
HP:0003307HP:0003307Hyperlordosis1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA038014996482156225
HP:0003307HP:0003307Hyperlordosis1LMNA CL E G H400098853ORPHA057411526636150330
HP:0003307HP:0003307Hyperlordosis1LMNA CL E G H400098855ORPHA057411526636150330
HP:0003307HP:0003307Hyperlordosis1LMOD3 CL E G H56203171436ORPHA0181686649616112
HP:0003307HP:0003307Hyperlordosis1MAP3K20 CL E G H517762020ORPHA073617797609479
HP:0003307HP:0003307Hyperlordosis1MAPK1 CL E G H5594261330ORPHA031126871176948
HP:0003307HP:0003307Hyperlordosis1MYH7 CL E G H4625437572ORPHA0100224407577160760
HP:0003307HP:0003307Hyperlordosis1MYL2 CL E G H46332020ORPHA0672827583160781
HP:0003307HP:0003307Hyperlordosis1NAA10 CL E G H8260568Aggressive fibromatosisORPHA01029618704300013
HP:0003307HP:0003307Hyperlordosis1NEB CL E G H4703171436ORPHA032130107720161650
HP:0003307HP:0003307Hyperlordosis1NECTIN1 CL E G H58183253Limb dystoniaORPHA0151959706600644
HP:0003307HP:0003307Hyperlordosis1NOTCH3 CL E G H48542789ORPHA03795917883600276
HP:0003307HP:0003307Hyperlordosis1OBSL1 CL E G H23363612921Three M syndrome 2612921C2752041OMIM03533129092610991
HP:0003307HP:0003307Hyperlordosis1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA054909236601487
HP:0003307HP:0003307Hyperlordosis1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM053414951613257
HP:0003307HP:0003307Hyperlordosis1RYR1 CL E G H6261169186ORPHA0688309410483180901
HP:0003307HP:0003307Hyperlordosis1SCN4A CL E G H632999735ORPHA012984810591603967
HP:0003307HP:0003307Hyperlordosis1SCN4A CL E G H6329614198Congenital myasthenic syndrome, acetazolamide-responsive614198C3502630OMIM012984810591603967
HP:0003307HP:0003307Hyperlordosis1SELENON CL E G H571902020ORPHA06335415999606210
HP:0003307HP:0003307Hyperlordosis1SPEG CL E G H10290169186ORPHA01319816901615950
HP:0003307HP:0003307Hyperlordosis1SYNE1 CL E G H2334598853ORPHA0144283817089608441
HP:0003307HP:0003307Hyperlordosis1SYNE2 CL E G H2322498853ORPHA011132017084608442
HP:0003307HP:0003307Hyperlordosis1TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA0354711766190180
HP:0003307HP:0003307Hyperlordosis1TMEM43 CL E G H7918898853ORPHA02448728472612048
HP:0003307HP:0003307Hyperlordosis1TPM2 CL E G H71692020ORPHA04019912011190990
HP:0003307HP:0003307Hyperlordosis1TPM2 CL E G H7169171436ORPHA04019912011190990
HP:0003307HP:0003307Hyperlordosis1TPM3 CL E G H71702020ORPHA02822512012191030
HP:0003307HP:0003307Hyperlordosis1TTN CL E G H7273169186ORPHA03461438512403188840


Genes (158) :ACAN ACP5 ACTA1 ADAMTS10 AGPAT2 ALG14 ALG2 ALX3 AMER1 ARSB B3GALT6 BAZ1B BCOR BCR BGN BICD2 BIN1 BSCL2 CANT1 CAPN3 CAV1 CAVIN1 CCDC8 CFL2 CHST3 CLCF1 CLIP2 COL11A2 COL1A1 COL1A2 COL2A1 COL5A1 COL5A2 COL6A2 COLEC10 COLEC11 COLQ COMP CRKL CTSK CUL7 DAG1 DDRGK1 DMD DNA2 DNM2 DPAGT1 DUX4 DYM ECEL1 EIF2AK3 ELN EMD FBN1 FGFR2 FGFR3 FHL1 FKRP FKTN FLNB FN1 FOS FRG1 FUCA1 GALNS GFPT1 GLB1 GMPPB GNPTG GTF2I GTF2IRD1 HACD1 HACE1 HERC1 HNRNPA1 HNRNPA2B1 HNRNPH2 HSPG2 IHH INPP5K ITGA7 KIF1A KLHL41 KY L1CAM LAMA2 LIMK1 LMNA LMOD3 LMX1B MAP3K20 MAPK1 MASP1 MATN3 MED12 MFN2 MMP13 MYH7 MYL2 MYPN NAA10 NEB NECTIN1 NOTCH3 NPR2 NSDHL OBSL1 PCYT1A PIEZO2 PLEC PLEKHG5 POMGNT1 POMT1 POMT2 POP1 PPARG PPM1D PPP1R15B RAB3GAP1 RAB3GAP2 RET RETREG1 RFC2 RMRP RYR1 SCN4A SCN9A SELENON SETD5 SGCA SGCG SHOX SLC26A2 SMARCAL1 SMCHD1 SON SOX5 SPEG SYNE1 SYNE2 TBL2 TBX6 TFAP2A TGFB1 TMEM43 TOR1A TPM2 TPM3 TRAPPC11 TRAPPC2 TRPS1 TRPV4 TTN TWIST1 VCP VPS13B WNK1 ZC4H2

Diseases (157) :1855 2020 171436 97244 616852 161800 528 616228 2780 93359 904 568 261330 363454 615290 169186 255200 251450 267 618129 613327 2616 614205 1427 287 617821 94068 485 93315 93346 184250 293843 603034 750 763 273750 310200 352470 160150 269 239 615065 1667 226980 98863 794 429 15 300718 606612 607155 611588 272460 253000 253010 252605 617011 52430 300986 800 63446 617404 970 617114 303350 258 98853 98855 157973 617760 2501 437572 256030 3253 2789 40 300831 612921 85167 611067 613157 613156 617396 617450 616817 1387 162300 175 99735 614198 615761 62 253700 1830 1797 113620 1328 128100 369840 615356 77258 190350 600175 181405 314580 171866 165800 612813 607944 255310 277600 353327 391474 253200 309800 300106 143095 610313 215150 183900 255600 177170 613818 93352 602557 223800 608328 100800 146000 616482 230000 616756 255800 607778 161200 156728 608728 305450 601152 171881 602875 114300 613723 86812 609308 212720 250250 353 249700 256050 242900 500150 313892 93284 313400 167320 216550
 

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