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 H541855ORPHA1197124171640
HP:0003307HP:0003307Hyperlordosis0ACP5 CL E G H541855ORPHA1149124171640
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H5897244ORPHA1362129102610
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H5897244ORPHA1325129102610
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1362129102610
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1325129102610
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0003307HP:0003307Hyperlordosis0B3GALT6 CL E G H12679293359ORPHA133717978615291
HP:0003307HP:0003307Hyperlordosis0B3GALT6 CL E G H12679293359ORPHA128117978615291
HP:0003307HP:0003307Hyperlordosis0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0003307HP:0003307Hyperlordosis0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0003307HP:0003307Hyperlordosis0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0003307HP:0003307Hyperlordosis0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0003307HP:0003307Hyperlordosis0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM121819721613165
HP:0003307HP:0003307Hyperlordosis0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM118519721613165
HP:0003307HP:0003307Hyperlordosis0CAPN3 CL E G H825267ORPHA111421480114240
HP:0003307HP:0003307Hyperlordosis0CAPN3 CL E G H825267ORPHA110471480114240
HP:0003307HP:0003307Hyperlordosis0CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM111421480114240
HP:0003307HP:0003307Hyperlordosis0CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM110471480114240
HP:0003307HP:0003307Hyperlordosis0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003307HP:0003307Hyperlordosis0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003307HP:0003307Hyperlordosis0CCDC8 CL E G H839872616ORPHA19525367614145
HP:0003307HP:0003307Hyperlordosis0CCDC8 CL E G H839872616ORPHA14725367614145
HP:0003307HP:0003307Hyperlordosis0CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM19525367614145
HP:0003307HP:0003307Hyperlordosis0CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM14725367614145
HP:0003307HP:0003307Hyperlordosis0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11772586603432
HP:0003307HP:0003307Hyperlordosis0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11762586603432
HP:0003307HP:0003307Hyperlordosis0COL11A2 CL E G H13021427ORPHA19742187120290
HP:0003307HP:0003307Hyperlordosis0COL11A2 CL E G H13021427ORPHA17052187120290
HP:0003307HP:0003307Hyperlordosis0COL1A1 CL E G H1277287ORPHA116552197120150
HP:0003307HP:0003307Hyperlordosis0COL1A1 CL E G H1277287ORPHA113972197120150
HP:0003307HP:0003307Hyperlordosis0COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM112032198120160
HP:0003307HP:0003307Hyperlordosis0COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM110422198120160
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H128094068ORPHA115402200120140
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H128093315ORPHA115402200120140
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H128093346ORPHA115402200120140
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H128094068ORPHA112132200120140
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H128093315ORPHA112132200120140
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H128093346ORPHA112132200120140
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H1280485ORPHA115402200120140
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H1280485ORPHA112132200120140
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H1280184250Spondylometaphyseal dysplasia184250C0700635OMIM115402200120140
HP:0003307HP:0003307Hyperlordosis0COL2A1 CL E G H1280184250Spondylometaphyseal dysplasia184250C0700635OMIM112132200120140
HP:0003307HP:0003307Hyperlordosis0COL5A1 CL E G H1289287ORPHA122462209120215
HP:0003307HP:0003307Hyperlordosis0COL5A1 CL E G H1289287ORPHA120772209120215
HP:0003307HP:0003307Hyperlordosis0COL5A2 CL E G H1290287ORPHA111212210120190
HP:0003307HP:0003307Hyperlordosis0COL5A2 CL E G H1290287ORPHA110302210120190
HP:0003307HP:0003307Hyperlordosis0COLEC10 CL E G H10584293843ORPHA1552220607620
HP:0003307HP:0003307Hyperlordosis0COLEC10 CL E G H10584293843ORPHA1542220607620
HP:0003307HP:0003307Hyperlordosis0COLEC11 CL E G H78989293843ORPHA16517213612502
HP:0003307HP:0003307Hyperlordosis0COLEC11 CL E G H78989293843ORPHA16217213612502
HP:0003307HP:0003307Hyperlordosis0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14182226603033
HP:0003307HP:0003307Hyperlordosis0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM13642226603033
HP:0003307HP:0003307Hyperlordosis0COMP CL E G H1311750ORPHA13752227600310
HP:0003307HP:0003307Hyperlordosis0COMP CL E G H1311750ORPHA12872227600310
HP:0003307HP:0003307Hyperlordosis0CUL7 CL E G H98202616ORPHA142321024609577
HP:0003307HP:0003307Hyperlordosis0CUL7 CL E G H98202616ORPHA132421024609577
HP:0003307HP:0003307Hyperlordosis0CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM142321024609577
HP:0003307HP:0003307Hyperlordosis0CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM132421024609577
HP:0003307HP:0003307Hyperlordosis0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM163952928300377
HP:0003307HP:0003307Hyperlordosis0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM156012928300377
HP:0003307HP:0003307Hyperlordosis0DNA2 CL E G H1763352470ORPHA12902939601810
HP:0003307HP:0003307Hyperlordosis0DNA2 CL E G H1763352470ORPHA12232939601810
HP:0003307HP:0003307Hyperlordosis0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM17662974602378
HP:0003307HP:0003307Hyperlordosis0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM16752974602378
HP:0003307HP:0003307Hyperlordosis0DUX4 CL E G H100288687269ORPHA150800606009
HP:0003307HP:0003307Hyperlordosis0DYM CL E G H54808239ORPHA122921317607461
HP:0003307HP:0003307Hyperlordosis0DYM CL E G H54808239ORPHA119121317607461
HP:0003307HP:0003307Hyperlordosis0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM12963255604032
HP:0003307HP:0003307Hyperlordosis0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM11783255604032
HP:0003307HP:0003307Hyperlordosis0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17043327130160
HP:0003307HP:0003307Hyperlordosis0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA16573327130160
HP:0003307HP:0003307Hyperlordosis0FGFR2 CL E G H2263794ORPHA15013689176943
HP:0003307HP:0003307Hyperlordosis0FGFR2 CL E G H2263794ORPHA14663689176943
HP:0003307HP:0003307Hyperlordosis0FGFR3 CL E G H2261794ORPHA15423690134934
HP:0003307HP:0003307Hyperlordosis0FGFR3 CL E G H2261794ORPHA15413690134934
HP:0003307HP:0003307Hyperlordosis0FGFR3 CL E G H226115Antisocial personality disorderORPHA15423690134934
HP:0003307HP:0003307Hyperlordosis0FGFR3 CL E G H226115Antisocial personality disorderORPHA15413690134934
HP:0003307HP:0003307Hyperlordosis0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14863702300163
HP:0003307HP:0003307Hyperlordosis0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14373702300163
HP:0003307HP:0003307Hyperlordosis0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0003307HP:0003307Hyperlordosis0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0003307HP:0003307Hyperlordosis0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003307HP:0003307Hyperlordosis0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003307HP:0003307Hyperlordosis0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003307HP:0003307Hyperlordosis0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003307HP:0003307Hyperlordosis0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM19883755603381
HP:0003307HP:0003307Hyperlordosis0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM17863755603381
HP:0003307HP:0003307Hyperlordosis0FN1 CL E G H233593315ORPHA16093778135600
HP:0003307HP:0003307Hyperlordosis0FN1 CL E G H233593315ORPHA14733778135600
HP:0003307HP:0003307Hyperlordosis0FRG1 CL E G H2483269ORPHA11233954601278
HP:0003307HP:0003307Hyperlordosis0FRG1 CL E G H2483269ORPHA11213954601278
HP:0003307HP:0003307Hyperlordosis0GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM18774122612222
HP:0003307HP:0003307Hyperlordosis0GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM18174122612222
HP:0003307HP:0003307Hyperlordosis0GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM15964298611458
HP:0003307HP:0003307Hyperlordosis0GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM15074298611458
HP:0003307HP:0003307Hyperlordosis0GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM150623026607838
HP:0003307HP:0003307Hyperlordosis0GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM143823026607838
HP:0003307HP:0003307Hyperlordosis0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11604659601679
HP:0003307HP:0003307Hyperlordosis0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11594659601679
HP:0003307HP:0003307Hyperlordosis0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12134661604318
HP:0003307HP:0003307Hyperlordosis0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12114661604318
HP:0003307HP:0003307Hyperlordosis0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM15454867605109
HP:0003307HP:0003307Hyperlordosis0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM15064867605109
HP:0003307HP:0003307Hyperlordosis0HNRNPA1 CL E G H317852430ORPHA1605031164017
HP:0003307HP:0003307Hyperlordosis0HNRNPA1 CL E G H317852430ORPHA1595031164017
HP:0003307HP:0003307Hyperlordosis0HNRNPA2B1 CL E G H318152430ORPHA11555033600124
HP:0003307HP:0003307Hyperlordosis0HNRNPA2B1 CL E G H318152430ORPHA11265033600124
HP:0003307HP:0003307Hyperlordosis0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11915042300610
HP:0003307HP:0003307Hyperlordosis0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11865042300610
HP:0003307HP:0003307Hyperlordosis0HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003307HP:0003307Hyperlordosis0HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003307HP:0003307Hyperlordosis0IHH CL E G H354963446ORPHA11785956600726
HP:0003307HP:0003307Hyperlordosis0IHH CL E G H354963446ORPHA11475956600726
HP:0003307HP:0003307Hyperlordosis0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM115333882607875
HP:0003307HP:0003307Hyperlordosis0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM114533882607875
HP:0003307HP:0003307Hyperlordosis0KIF1A CL E G H547970ORPHA11735888601255
HP:0003307HP:0003307Hyperlordosis0KIF1A CL E G H547970ORPHA11441888601255
HP:0003307HP:0003307Hyperlordosis0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17926576605739
HP:0003307HP:0003307Hyperlordosis0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17826576605739
HP:0003307HP:0003307Hyperlordosis0L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM16956470308840
HP:0003307HP:0003307Hyperlordosis0L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM16456470308840
HP:0003307HP:0003307Hyperlordosis0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11976613601329
HP:0003307HP:0003307Hyperlordosis0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11966613601329
HP:0003307HP:0003307Hyperlordosis0LMNA CL E G H4000157973ORPHA114866636150330
HP:0003307HP:0003307Hyperlordosis0LMNA CL E G H4000157973ORPHA113476636150330
HP:0003307HP:0003307Hyperlordosis0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM116217797609479
HP:0003307HP:0003307Hyperlordosis0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM17617797609479
HP:0003307HP:0003307Hyperlordosis0MASP1 CL E G H5648293843ORPHA12206901600521
HP:0003307HP:0003307Hyperlordosis0MASP1 CL E G H5648293843ORPHA12146901600521
HP:0003307HP:0003307Hyperlordosis0MMP13 CL E G H43222501Glucose-6-phosphate translocase deficiencyORPHA11887159600108
HP:0003307HP:0003307Hyperlordosis0MMP13 CL E G H43222501Glucose-6-phosphate translocase deficiencyORPHA11527159600108
HP:0003307HP:0003307Hyperlordosis0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM153137720161650
HP:0003307HP:0003307Hyperlordosis0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM146747720161650
HP:0003307HP:0003307Hyperlordosis0NPR2 CL E G H488240ORPHA13447944108961
HP:0003307HP:0003307Hyperlordosis0NPR2 CL E G H488240ORPHA12857944108961
HP:0003307HP:0003307Hyperlordosis0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM130313398300275
HP:0003307HP:0003307Hyperlordosis0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM128913398300275
HP:0003307HP:0003307Hyperlordosis0OBSL1 CL E G H233632616ORPHA162629092610991
HP:0003307HP:0003307Hyperlordosis0OBSL1 CL E G H233632616ORPHA146129092610991
HP:0003307HP:0003307Hyperlordosis0PCYT1A CL E G H513085167ORPHA12618754123695
HP:0003307HP:0003307Hyperlordosis0PCYT1A CL E G H513085167ORPHA12098754123695
HP:0003307HP:0003307Hyperlordosis0PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM183229105611101
HP:0003307HP:0003307Hyperlordosis0PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM174129105611101
HP:0003307HP:0003307Hyperlordosis0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003307HP:0003307Hyperlordosis0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003307HP:0003307Hyperlordosis0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM169119743607439
HP:0003307HP:0003307Hyperlordosis0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM160419743607439
HP:0003307HP:0003307Hyperlordosis0POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM116030129602486
HP:0003307HP:0003307Hyperlordosis0POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM19530129602486
HP:0003307HP:0003307Hyperlordosis0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11229277605100
HP:0003307HP:0003307Hyperlordosis0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11169277605100
HP:0003307HP:0003307Hyperlordosis0RAB3GAP1 CL E G H229301387Cleft palate cardiac defect ectrodactylyORPHA129017063602536
HP:0003307HP:0003307Hyperlordosis0RAB3GAP1 CL E G H229301387Cleft palate cardiac defect ectrodactylyORPHA127017063602536
HP:0003307HP:0003307Hyperlordosis0RAB3GAP2 CL E G H257821387Cleft palate cardiac defect ectrodactylyORPHA144117168609275
HP:0003307HP:0003307Hyperlordosis0RAB3GAP2 CL E G H257821387Cleft palate cardiac defect ectrodactylyORPHA141017168609275
HP:0003307HP:0003307Hyperlordosis0RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM120509967164761
HP:0003307HP:0003307Hyperlordosis0RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM118079967164761
HP:0003307HP:0003307Hyperlordosis0RETREG1 CL E G H54463970ORPHA141625964613114
HP:0003307HP:0003307Hyperlordosis0RETREG1 CL E G H54463970ORPHA136825964613114
HP:0003307HP:0003307Hyperlordosis0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11759970600404
HP:0003307HP:0003307Hyperlordosis0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11749970600404
HP:0003307HP:0003307Hyperlordosis0RMRP CL E G H6023175ORPHA160910031157660
HP:0003307HP:0003307Hyperlordosis0RMRP CL E G H6023175ORPHA149810031157660
HP:0003307HP:0003307Hyperlordosis0SCN9A CL E G H6335970ORPHA1170810597603415
HP:0003307HP:0003307Hyperlordosis0SCN9A CL E G H6335970ORPHA1143810597603415
HP:0003307HP:0003307Hyperlordosis0SELENON CL E G H5719097244ORPHA150515999606210
HP:0003307HP:0003307Hyperlordosis0SELENON CL E G H5719097244ORPHA145415999606210
HP:0003307HP:0003307Hyperlordosis0SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM149225566615743
HP:0003307HP:0003307Hyperlordosis0SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM141825566615743
HP:0003307HP:0003307Hyperlordosis0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA147410805600119
HP:0003307HP:0003307Hyperlordosis0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA142210805600119
HP:0003307HP:0003307Hyperlordosis0SGCG CL E G H6445253700Severe autosomal recessive muscular dystrophy of childhood - North African type253700C0410173OMIM145210809608896
HP:0003307HP:0003307Hyperlordosis0SGCG CL E G H6445253700Severe autosomal recessive muscular dystrophy of childhood - North African type253700C0410173OMIM140910809608896
HP:0003307HP:0003307Hyperlordosis0SMARCAL1 CL E G H504851830ORPHA159211102606622
HP:0003307HP:0003307Hyperlordosis0SMARCAL1 CL E G H504851830ORPHA149111102606622
HP:0003307HP:0003307Hyperlordosis0SMCHD1 CL E G H23347269ORPHA185929090614982
HP:0003307HP:0003307Hyperlordosis0SMCHD1 CL E G H23347269ORPHA172429090614982
HP:0003307HP:0003307Hyperlordosis0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116211586605842
HP:0003307HP:0003307Hyperlordosis0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116111586605842
HP:0003307HP:0003307Hyperlordosis0TBX6 CL E G H69111797Delleman Oorthuys syndromeORPHA136911605602427
HP:0003307HP:0003307Hyperlordosis0TBX6 CL E G H69111797Delleman Oorthuys syndromeORPHA133311605602427
HP:0003307HP:0003307Hyperlordosis0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0003307HP:0003307Hyperlordosis0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0003307HP:0003307Hyperlordosis0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM11613098605204
HP:0003307HP:0003307Hyperlordosis0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM11563098605204
HP:0003307HP:0003307Hyperlordosis0TRAPPC11 CL E G H60684369840ORPHA167325751614138
HP:0003307HP:0003307Hyperlordosis0TRAPPC11 CL E G H60684369840ORPHA157325751614138
HP:0003307HP:0003307Hyperlordosis0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0003307HP:0003307Hyperlordosis0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0003307HP:0003307Hyperlordosis0TRPS1 CL E G H722777258ORPHA133612340604386
HP:0003307HP:0003307Hyperlordosis0TRPS1 CL E G H722777258ORPHA127012340604386
HP:0003307HP:0003307Hyperlordosis0TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM133612340604386
HP:0003307HP:0003307Hyperlordosis0TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM127012340604386
HP:0003307HP:0003307Hyperlordosis0TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM178118083605427
HP:0003307HP:0003307Hyperlordosis0TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM170318083605427
HP:0003307HP:0003307Hyperlordosis0TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM178118083605427
HP:0003307HP:0003307Hyperlordosis0TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM170318083605427
HP:0003307HP:0003307Hyperlordosis0TWIST1 CL E G H7291794ORPHA116312428601622
HP:0003307HP:0003307Hyperlordosis0TWIST1 CL E G H7291794ORPHA114212428601622
HP:0003307HP:0003307Hyperlordosis0VCP CL E G H741552430ORPHA139512666601023
HP:0003307HP:0003307Hyperlordosis0VCP CL E G H741552430ORPHA135612666601023
HP:0003307HP:0003307Hyperlordosis0WNK1 CL E G H65125970ORPHA1125814540605232
HP:0003307HP:0003307Hyperlordosis0WNK1 CL E G H65125970ORPHA1109614540605232
HP:0003307HP:0003307Hyperlordosis0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0003307HP:0003307Hyperlordosis0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0003307HP:0002938Lumbar hyperlordosis1ACP5 CL E G H541855ORPHA1197124171640
HP:0003307HP:0002938Lumbar hyperlordosis1ACP5 CL E G H541855ORPHA1149124171640
HP:0003307HP:0002938Lumbar hyperlordosis1ACTA1 CL E G H5897244ORPHA1325129102610
HP:0003307HP:0002938Lumbar hyperlordosis1ACTA1 CL E G H5897244ORPHA1362129102610
HP:0003307HP:0002938Lumbar hyperlordosis1ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1362129102610
HP:0003307HP:0002938Lumbar hyperlordosis1ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1325129102610
HP:0003307HP:0002938Lumbar hyperlordosis1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0003307HP:0002938Lumbar hyperlordosis1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0003307HP:0002938Lumbar hyperlordosis1B3GALT6 CL E G H12679293359ORPHA128117978615291
HP:0003307HP:0002938Lumbar hyperlordosis1B3GALT6 CL E G H12679293359ORPHA133717978615291
HP:0003307HP:0002938Lumbar hyperlordosis1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0003307HP:0002938Lumbar hyperlordosis1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0003307HP:0002938Lumbar hyperlordosis1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0003307HP:0002938Lumbar hyperlordosis1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0003307HP:0002938Lumbar hyperlordosis1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM121819721613165
HP:0003307HP:0002938Lumbar hyperlordosis1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM118519721613165
HP:0003307HP:0002938Lumbar hyperlordosis1CAPN3 CL E G H825267ORPHA111421480114240
HP:0003307HP:0002938Lumbar hyperlordosis1CAPN3 CL E G H825267ORPHA110471480114240
HP:0003307HP:0002938Lumbar hyperlordosis1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM111421480114240
HP:0003307HP:0002938Lumbar hyperlordosis1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM110471480114240
HP:0003307HP:0002938Lumbar hyperlordosis1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003307HP:0002938Lumbar hyperlordosis1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003307HP:0002938Lumbar hyperlordosis1CCDC8 CL E G H839872616ORPHA19525367614145
HP:0003307HP:0002938Lumbar hyperlordosis1CCDC8 CL E G H839872616ORPHA14725367614145
HP:0003307HP:0002938Lumbar hyperlordosis1CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM19525367614145
HP:0003307HP:0002938Lumbar hyperlordosis1CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM14725367614145
HP:0003307HP:0002938Lumbar hyperlordosis1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11772586603432
HP:0003307HP:0002938Lumbar hyperlordosis1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11762586603432
HP:0003307HP:0002938Lumbar hyperlordosis1COL11A2 CL E G H13021427ORPHA19742187120290
HP:0003307HP:0002938Lumbar hyperlordosis1COL11A2 CL E G H13021427ORPHA17052187120290
HP:0003307HP:0002938Lumbar hyperlordosis1COL1A1 CL E G H1277287ORPHA116552197120150
HP:0003307HP:0002938Lumbar hyperlordosis1COL1A1 CL E G H1277287ORPHA113972197120150
HP:0003307HP:0002938Lumbar hyperlordosis1COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM112032198120160
HP:0003307HP:0002938Lumbar hyperlordosis1COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM110422198120160
HP:0003307HP:0002938Lumbar hyperlordosis1COL2A1 CL E G H128093315ORPHA112132200120140
HP:0003307HP:0002938Lumbar hyperlordosis1COL2A1 CL E G H128093346ORPHA112132200120140
HP:0003307HP:0002938Lumbar hyperlordosis1COL2A1 CL E G H128094068ORPHA112132200120140
HP:0003307HP:0002938Lumbar hyperlordosis1COL2A1 CL E G H1280485ORPHA115402200120140
HP:0003307HP:0002938Lumbar hyperlordosis1COL2A1 CL E G H1280485ORPHA112132200120140
HP:0003307HP:0002938Lumbar hyperlordosis1COL2A1 CL E G H128094068ORPHA115402200120140
HP:0003307HP:0002938Lumbar hyperlordosis1COL2A1 CL E G H128093315ORPHA115402200120140
HP:0003307HP:0002938Lumbar hyperlordosis1COL2A1 CL E G H128093346ORPHA115402200120140
HP:0003307HP:0002938Lumbar hyperlordosis1COL2A1 CL E G H1280184250Spondylometaphyseal dysplasia184250C0700635OMIM115402200120140
HP:0003307HP:0002938Lumbar hyperlordosis1COL2A1 CL E G H1280184250Spondylometaphyseal dysplasia184250C0700635OMIM112132200120140
HP:0003307HP:0002938Lumbar hyperlordosis1COL5A1 CL E G H1289287ORPHA122462209120215
HP:0003307HP:0002938Lumbar hyperlordosis1COL5A1 CL E G H1289287ORPHA120772209120215
HP:0003307HP:0002938Lumbar hyperlordosis1COL5A2 CL E G H1290287ORPHA111212210120190
HP:0003307HP:0002938Lumbar hyperlordosis1COL5A2 CL E G H1290287ORPHA110302210120190
HP:0003307HP:0002938Lumbar hyperlordosis1COLEC10 CL E G H10584293843ORPHA1542220607620
HP:0003307HP:0002938Lumbar hyperlordosis1COLEC10 CL E G H10584293843ORPHA1552220607620
HP:0003307HP:0002938Lumbar hyperlordosis1COLEC11 CL E G H78989293843ORPHA16217213612502
HP:0003307HP:0002938Lumbar hyperlordosis1COLEC11 CL E G H78989293843ORPHA16517213612502
HP:0003307HP:0002938Lumbar hyperlordosis1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14182226603033
HP:0003307HP:0002938Lumbar hyperlordosis1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM13642226603033
HP:0003307HP:0002938Lumbar hyperlordosis1COMP CL E G H1311750ORPHA13752227600310
HP:0003307HP:0002938Lumbar hyperlordosis1COMP CL E G H1311750ORPHA12872227600310
HP:0003307HP:0002938Lumbar hyperlordosis1CUL7 CL E G H98202616ORPHA142321024609577
HP:0003307HP:0002938Lumbar hyperlordosis1CUL7 CL E G H98202616ORPHA132421024609577
HP:0003307HP:0002938Lumbar hyperlordosis1CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM142321024609577
HP:0003307HP:0002938Lumbar hyperlordosis1CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM132421024609577
HP:0003307HP:0002938Lumbar hyperlordosis1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM163952928300377
HP:0003307HP:0002938Lumbar hyperlordosis1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM156012928300377
HP:0003307HP:0002938Lumbar hyperlordosis1DNA2 CL E G H1763352470ORPHA12232939601810
HP:0003307HP:0002938Lumbar hyperlordosis1DNA2 CL E G H1763352470ORPHA12902939601810
HP:0003307HP:0002938Lumbar hyperlordosis1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM17662974602378
HP:0003307HP:0002938Lumbar hyperlordosis1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM16752974602378
HP:0003307HP:0002938Lumbar hyperlordosis1DUX4 CL E G H100288687269ORPHA150800606009
HP:0003307HP:0002938Lumbar hyperlordosis1DYM CL E G H54808239ORPHA122921317607461
HP:0003307HP:0002938Lumbar hyperlordosis1DYM CL E G H54808239ORPHA119121317607461
HP:0003307HP:0002938Lumbar hyperlordosis1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM12963255604032
HP:0003307HP:0002938Lumbar hyperlordosis1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM11783255604032
HP:0003307HP:0002938Lumbar hyperlordosis1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17043327130160
HP:0003307HP:0002938Lumbar hyperlordosis1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA16573327130160
HP:0003307HP:0002938Lumbar hyperlordosis1FGFR2 CL E G H2263794ORPHA15013689176943
HP:0003307HP:0002938Lumbar hyperlordosis1FGFR2 CL E G H2263794ORPHA14663689176943
HP:0003307HP:0002938Lumbar hyperlordosis1FGFR3 CL E G H2261794ORPHA15423690134934
HP:0003307HP:0002938Lumbar hyperlordosis1FGFR3 CL E G H2261794ORPHA15413690134934
HP:0003307HP:0002938Lumbar hyperlordosis1FGFR3 CL E G H226115Antisocial personality disorderORPHA15423690134934
HP:0003307HP:0002938Lumbar hyperlordosis1FGFR3 CL E G H226115Antisocial personality disorderORPHA15413690134934
HP:0003307HP:0002938Lumbar hyperlordosis1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14863702300163
HP:0003307HP:0002938Lumbar hyperlordosis1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14373702300163
HP:0003307HP:0002938Lumbar hyperlordosis1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0003307HP:0002938Lumbar hyperlordosis1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0003307HP:0002938Lumbar hyperlordosis1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003307HP:0002938Lumbar hyperlordosis1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003307HP:0002938Lumbar hyperlordosis1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003307HP:0002938Lumbar hyperlordosis1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003307HP:0002938Lumbar hyperlordosis1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM19883755603381
HP:0003307HP:0002938Lumbar hyperlordosis1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM17863755603381
HP:0003307HP:0002938Lumbar hyperlordosis1FN1 CL E G H233593315ORPHA14733778135600
HP:0003307HP:0002938Lumbar hyperlordosis1FN1 CL E G H233593315ORPHA16093778135600
HP:0003307HP:0002938Lumbar hyperlordosis1FRG1 CL E G H2483269ORPHA11233954601278
HP:0003307HP:0002938Lumbar hyperlordosis1FRG1 CL E G H2483269ORPHA11213954601278
HP:0003307HP:0002938Lumbar hyperlordosis1GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM18774122612222
HP:0003307HP:0002938Lumbar hyperlordosis1GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM18174122612222
HP:0003307HP:0002938Lumbar hyperlordosis1GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM15964298611458
HP:0003307HP:0002938Lumbar hyperlordosis1GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM15074298611458
HP:0003307HP:0002938Lumbar hyperlordosis1GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM150623026607838
HP:0003307HP:0002938Lumbar hyperlordosis1GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM143823026607838
HP:0003307HP:0002938Lumbar hyperlordosis1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11604659601679
HP:0003307HP:0002938Lumbar hyperlordosis1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11594659601679
HP:0003307HP:0002938Lumbar hyperlordosis1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12134661604318
HP:0003307HP:0002938Lumbar hyperlordosis1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12114661604318
HP:0003307HP:0002938Lumbar hyperlordosis1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM15454867605109
HP:0003307HP:0002938Lumbar hyperlordosis1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM15064867605109
HP:0003307HP:0002938Lumbar hyperlordosis1HNRNPA1 CL E G H317852430ORPHA1605031164017
HP:0003307HP:0002938Lumbar hyperlordosis1HNRNPA1 CL E G H317852430ORPHA1595031164017
HP:0003307HP:0002938Lumbar hyperlordosis1HNRNPA2B1 CL E G H318152430ORPHA11555033600124
HP:0003307HP:0002938Lumbar hyperlordosis1HNRNPA2B1 CL E G H318152430ORPHA11265033600124
HP:0003307HP:0002938Lumbar hyperlordosis1HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11915042300610
HP:0003307HP:0002938Lumbar hyperlordosis1HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11865042300610
HP:0003307HP:0002938Lumbar hyperlordosis1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003307HP:0002938Lumbar hyperlordosis1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003307HP:0002938Lumbar hyperlordosis1IHH CL E G H354963446ORPHA11785956600726
HP:0003307HP:0002938Lumbar hyperlordosis1IHH CL E G H354963446ORPHA11475956600726
HP:0003307HP:0002938Lumbar hyperlordosis1INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM115333882607875
HP:0003307HP:0002938Lumbar hyperlordosis1INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM114533882607875
HP:0003307HP:0002938Lumbar hyperlordosis1KIF1A CL E G H547970ORPHA11735888601255
HP:0003307HP:0002938Lumbar hyperlordosis1KIF1A CL E G H547970ORPHA11441888601255
HP:0003307HP:0002938Lumbar hyperlordosis1KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17926576605739
HP:0003307HP:0002938Lumbar hyperlordosis1KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17826576605739
HP:0003307HP:0002938Lumbar hyperlordosis1L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM16956470308840
HP:0003307HP:0002938Lumbar hyperlordosis1L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM16456470308840
HP:0003307HP:0002938Lumbar hyperlordosis1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11976613601329
HP:0003307HP:0002938Lumbar hyperlordosis1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11966613601329
HP:0003307HP:0002938Lumbar hyperlordosis1LMNA CL E G H4000157973ORPHA113476636150330
HP:0003307HP:0002938Lumbar hyperlordosis1LMNA CL E G H4000157973ORPHA114866636150330
HP:0003307HP:0002938Lumbar hyperlordosis1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM116217797609479
HP:0003307HP:0002938Lumbar hyperlordosis1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM17617797609479
HP:0003307HP:0002938Lumbar hyperlordosis1MASP1 CL E G H5648293843ORPHA12146901600521
HP:0003307HP:0002938Lumbar hyperlordosis1MASP1 CL E G H5648293843ORPHA12206901600521
HP:0003307HP:0002938Lumbar hyperlordosis1MMP13 CL E G H43222501Glucose-6-phosphate translocase deficiencyORPHA11887159600108
HP:0003307HP:0002938Lumbar hyperlordosis1MMP13 CL E G H43222501Glucose-6-phosphate translocase deficiencyORPHA11527159600108
HP:0003307HP:0002938Lumbar hyperlordosis1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM153137720161650
HP:0003307HP:0002938Lumbar hyperlordosis1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM146747720161650
HP:0003307HP:0002938Lumbar hyperlordosis1NPR2 CL E G H488240ORPHA13447944108961
HP:0003307HP:0002938Lumbar hyperlordosis1NPR2 CL E G H488240ORPHA12857944108961
HP:0003307HP:0002938Lumbar hyperlordosis1NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM130313398300275
HP:0003307HP:0002938Lumbar hyperlordosis1NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM128913398300275
HP:0003307HP:0002938Lumbar hyperlordosis1OBSL1 CL E G H233632616ORPHA162629092610991
HP:0003307HP:0002938Lumbar hyperlordosis1OBSL1 CL E G H233632616ORPHA146129092610991
HP:0003307HP:0002938Lumbar hyperlordosis1PCYT1A CL E G H513085167ORPHA12098754123695
HP:0003307HP:0002938Lumbar hyperlordosis1PCYT1A CL E G H513085167ORPHA12618754123695
HP:0003307HP:0002938Lumbar hyperlordosis1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM183229105611101
HP:0003307HP:0002938Lumbar hyperlordosis1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM174129105611101
HP:0003307HP:0002938Lumbar hyperlordosis1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003307HP:0002938Lumbar hyperlordosis1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003307HP:0002938Lumbar hyperlordosis1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM169119743607439
HP:0003307HP:0002938Lumbar hyperlordosis1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM160419743607439
HP:0003307HP:0002938Lumbar hyperlordosis1POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM116030129602486
HP:0003307HP:0002938Lumbar hyperlordosis1POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM19530129602486
HP:0003307HP:0002938Lumbar hyperlordosis1PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11229277605100
HP:0003307HP:0002938Lumbar hyperlordosis1PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11169277605100
HP:0003307HP:0002938Lumbar hyperlordosis1RAB3GAP1 CL E G H229301387Cleft palate cardiac defect ectrodactylyORPHA129017063602536
HP:0003307HP:0002938Lumbar hyperlordosis1RAB3GAP1 CL E G H229301387Cleft palate cardiac defect ectrodactylyORPHA127017063602536
HP:0003307HP:0002938Lumbar hyperlordosis1RAB3GAP2 CL E G H257821387Cleft palate cardiac defect ectrodactylyORPHA144117168609275
HP:0003307HP:0002938Lumbar hyperlordosis1RAB3GAP2 CL E G H257821387Cleft palate cardiac defect ectrodactylyORPHA141017168609275
HP:0003307HP:0002938Lumbar hyperlordosis1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM120509967164761
HP:0003307HP:0002938Lumbar hyperlordosis1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM118079967164761
HP:0003307HP:0002938Lumbar hyperlordosis1RETREG1 CL E G H54463970ORPHA141625964613114
HP:0003307HP:0002938Lumbar hyperlordosis1RETREG1 CL E G H54463970ORPHA136825964613114
HP:0003307HP:0002938Lumbar hyperlordosis1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11759970600404
HP:0003307HP:0002938Lumbar hyperlordosis1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11749970600404
HP:0003307HP:0002938Lumbar hyperlordosis1RMRP CL E G H6023175ORPHA160910031157660
HP:0003307HP:0002938Lumbar hyperlordosis1RMRP CL E G H6023175ORPHA149810031157660
HP:0003307HP:0002938Lumbar hyperlordosis1SCN9A CL E G H6335970ORPHA1170810597603415
HP:0003307HP:0002938Lumbar hyperlordosis1SCN9A CL E G H6335970ORPHA1143810597603415
HP:0003307HP:0002938Lumbar hyperlordosis1SELENON CL E G H5719097244ORPHA145415999606210
HP:0003307HP:0002938Lumbar hyperlordosis1SELENON CL E G H5719097244ORPHA150515999606210
HP:0003307HP:0002938Lumbar hyperlordosis1SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM149225566615743
HP:0003307HP:0002938Lumbar hyperlordosis1SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM141825566615743
HP:0003307HP:0002938Lumbar hyperlordosis1SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA147410805600119
HP:0003307HP:0002938Lumbar hyperlordosis1SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA142210805600119
HP:0003307HP:0002938Lumbar hyperlordosis1SGCG CL E G H6445253700Severe autosomal recessive muscular dystrophy of childhood - North African type253700C0410173OMIM145210809608896
HP:0003307HP:0002938Lumbar hyperlordosis1SGCG CL E G H6445253700Severe autosomal recessive muscular dystrophy of childhood - North African type253700C0410173OMIM140910809608896
HP:0003307HP:0002938Lumbar hyperlordosis1SMARCAL1 CL E G H504851830ORPHA159211102606622
HP:0003307HP:0002938Lumbar hyperlordosis1SMARCAL1 CL E G H504851830ORPHA149111102606622
HP:0003307HP:0002938Lumbar hyperlordosis1SMCHD1 CL E G H23347269ORPHA185929090614982
HP:0003307HP:0002938Lumbar hyperlordosis1SMCHD1 CL E G H23347269ORPHA172429090614982
HP:0003307HP:0002938Lumbar hyperlordosis1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116211586605842
HP:0003307HP:0002938Lumbar hyperlordosis1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116111586605842
HP:0003307HP:0002938Lumbar hyperlordosis1TBX6 CL E G H69111797Delleman Oorthuys syndromeORPHA136911605602427
HP:0003307HP:0002938Lumbar hyperlordosis1TBX6 CL E G H69111797Delleman Oorthuys syndromeORPHA133311605602427
HP:0003307HP:0002938Lumbar hyperlordosis1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0003307HP:0002938Lumbar hyperlordosis1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0003307HP:0002938Lumbar hyperlordosis1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM11613098605204
HP:0003307HP:0002938Lumbar hyperlordosis1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM11563098605204
HP:0003307HP:0002938Lumbar hyperlordosis1TRAPPC11 CL E G H60684369840ORPHA157325751614138
HP:0003307HP:0002938Lumbar hyperlordosis1TRAPPC11 CL E G H60684369840ORPHA167325751614138
HP:0003307HP:0002938Lumbar hyperlordosis1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0003307HP:0002938Lumbar hyperlordosis1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0003307HP:0002938Lumbar hyperlordosis1TRPS1 CL E G H722777258ORPHA133612340604386
HP:0003307HP:0002938Lumbar hyperlordosis1TRPS1 CL E G H722777258ORPHA127012340604386
HP:0003307HP:0002938Lumbar hyperlordosis1TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM133612340604386
HP:0003307HP:0002938Lumbar hyperlordosis1TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM127012340604386
HP:0003307HP:0002938Lumbar hyperlordosis1TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM178118083605427
HP:0003307HP:0002938Lumbar hyperlordosis1TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM170318083605427
HP:0003307HP:0002938Lumbar hyperlordosis1TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM178118083605427
HP:0003307HP:0002938Lumbar hyperlordosis1TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM170318083605427
HP:0003307HP:0002938Lumbar hyperlordosis1TWIST1 CL E G H7291794ORPHA116312428601622
HP:0003307HP:0002938Lumbar hyperlordosis1TWIST1 CL E G H7291794ORPHA114212428601622
HP:0003307HP:0002938Lumbar hyperlordosis1VCP CL E G H741552430ORPHA139512666601023
HP:0003307HP:0002938Lumbar hyperlordosis1VCP CL E G H741552430ORPHA135612666601023
HP:0003307HP:0002938Lumbar hyperlordosis1WNK1 CL E G H65125970ORPHA1125814540605232
HP:0003307HP:0002938Lumbar hyperlordosis1WNK1 CL E G H65125970ORPHA1109614540605232
HP:0003307HP:0002938Lumbar hyperlordosis1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0003307HP:0002938Lumbar hyperlordosis1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H582020ORPHA0362129102610
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H58171436ORPHA0362129102610
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H582020ORPHA0325129102610
HP:0003307HP:0003307Hyperlordosis0ACTA1 CL E G H58171436ORPHA0325129102610
HP:0003307HP:0003307Hyperlordosis0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0205325603100
HP:0003307HP:0003307Hyperlordosis0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0203325603100
HP:0003307HP:0003307Hyperlordosis0ALG2 CL E G H85365616228Myasthenic syndrome, congenital, 14616228C4015597OMIM024123159607905
HP:0003307HP:0003307Hyperlordosis0ALG2 CL E G H85365616228Myasthenic syndrome, congenital, 14616228C4015597OMIM019323159607905
HP:0003307HP:0003307Hyperlordosis0AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA026326837300647
HP:0003307HP:0003307Hyperlordosis0AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA024526837300647
HP:0003307HP:0003307Hyperlordosis0BCOR CL E G H54880568Aggressive fibromatosisORPHA053620893300485
HP:0003307HP:0003307Hyperlordosis0BCOR CL E G H54880568Aggressive fibromatosisORPHA050220893300485
HP:0003307HP:0003307Hyperlordosis0BCR CL E G H613261330ORPHA02171014151410
HP:0003307HP:0003307Hyperlordosis0BCR CL E G H613261330ORPHA02141014151410
HP:0003307HP:0003307Hyperlordosis0BICD2 CL E G H23299363454ORPHA050617208609797
HP:0003307HP:0003307Hyperlordosis0BICD2 CL E G H23299363454ORPHA044517208609797
HP:0003307HP:0003307Hyperlordosis0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM050617208609797
HP:0003307HP:0003307Hyperlordosis0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM044517208609797
HP:0003307HP:0003307Hyperlordosis0BIN1 CL E G H274169186ORPHA04871052601248
HP:0003307HP:0003307Hyperlordosis0BIN1 CL E G H274169186ORPHA04311052601248
HP:0003307HP:0003307Hyperlordosis0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA037315832606158
HP:0003307HP:0003307Hyperlordosis0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA033015832606158
HP:0003307HP:0003307Hyperlordosis0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0851527601047
HP:0003307HP:0003307Hyperlordosis0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0811527601047
HP:0003307HP:0003307Hyperlordosis0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01109688603198
HP:0003307HP:0003307Hyperlordosis0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01099688603198
HP:0003307HP:0003307Hyperlordosis0CFL2 CL E G H1073171436ORPHA01391875601443
HP:0003307HP:0003307Hyperlordosis0CFL2 CL E G H1073171436ORPHA01281875601443
HP:0003307HP:0003307Hyperlordosis0CRKL CL E G H1399261330ORPHA04062363602007
HP:0003307HP:0003307Hyperlordosis0CRKL CL E G H1399261330ORPHA03982363602007
HP:0003307HP:0003307Hyperlordosis0CTSK CL E G H1513763ORPHA01862536601105
HP:0003307HP:0003307Hyperlordosis0CTSK CL E G H1513763ORPHA01632536601105
HP:0003307HP:0003307Hyperlordosis0ECEL1 CL E G H9427615065Distal arthrogryposis type 5D615065C3554415OMIM01533147605896
HP:0003307HP:0003307Hyperlordosis0ECEL1 CL E G H9427615065Distal arthrogryposis type 5D615065C3554415OMIM01503147605896
HP:0003307HP:0003307Hyperlordosis0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA02963255604032
HP:0003307HP:0003307Hyperlordosis0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA01783255604032
HP:0003307HP:0003307Hyperlordosis0EMD CL E G H201098863ORPHA05793331300384
HP:0003307HP:0003307Hyperlordosis0EMD CL E G H201098863ORPHA05303331300384
HP:0003307HP:0003307Hyperlordosis0FGFR3 CL E G H2261429Amniotic band syndromeORPHA05423690134934
HP:0003307HP:0003307Hyperlordosis0FGFR3 CL E G H2261429Amniotic band syndromeORPHA05413690134934
HP:0003307HP:0003307Hyperlordosis0FHL1 CL E G H227398863ORPHA04863702300163
HP:0003307HP:0003307Hyperlordosis0FHL1 CL E G H227398863ORPHA04373702300163
HP:0003307HP:0003307Hyperlordosis0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0293796164810
HP:0003307HP:0003307Hyperlordosis0HACD1 CL E G H92002020ORPHA0859639610467
HP:0003307HP:0003307Hyperlordosis0HACD1 CL E G H92002020ORPHA0479639610467
HP:0003307HP:0003307Hyperlordosis0ITGA7 CL E G H36792020ORPHA06286143600536
HP:0003307HP:0003307Hyperlordosis0ITGA7 CL E G H36792020ORPHA05236143600536
HP:0003307HP:0003307Hyperlordosis0KLHL41 CL E G H10324171436ORPHA019916905607701
HP:0003307HP:0003307Hyperlordosis0KLHL41 CL E G H10324171436ORPHA015716905607701
HP:0003307HP:0003307Hyperlordosis0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA027396482156225
HP:0003307HP:0003307Hyperlordosis0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA023276482156225
HP:0003307HP:0003307Hyperlordosis0LMNA CL E G H400098855ORPHA014866636150330
HP:0003307HP:0003307Hyperlordosis0LMNA CL E G H400098853ORPHA014866636150330
HP:0003307HP:0003307Hyperlordosis0LMNA CL E G H400098855ORPHA013476636150330
HP:0003307HP:0003307Hyperlordosis0LMNA CL E G H400098853ORPHA013476636150330
HP:0003307HP:0003307Hyperlordosis0LMOD3 CL E G H56203171436ORPHA03086649616112
HP:0003307HP:0003307Hyperlordosis0LMOD3 CL E G H56203171436ORPHA02406649616112
HP:0003307HP:0003307Hyperlordosis0MAP3K20 CL E G H517762020ORPHA016217797609479
HP:0003307HP:0003307Hyperlordosis0MAP3K20 CL E G H517762020ORPHA07617797609479
HP:0003307HP:0003307Hyperlordosis0MAPK1 CL E G H5594261330ORPHA01206871176948
HP:0003307HP:0003307Hyperlordosis0MAPK1 CL E G H5594261330ORPHA01176871176948
HP:0003307HP:0003307Hyperlordosis0MYH7 CL E G H4625437572ORPHA032927577160760
HP:0003307HP:0003307Hyperlordosis0MYH7 CL E G H4625437572ORPHA029607577160760
HP:0003307HP:0003307Hyperlordosis0MYL2 CL E G H46332020ORPHA04067583160781
HP:0003307HP:0003307Hyperlordosis0MYL2 CL E G H46332020ORPHA03557583160781
HP:0003307HP:0003307Hyperlordosis0NAA10 CL E G H8260568Aggressive fibromatosisORPHA034818704300013
HP:0003307HP:0003307Hyperlordosis0NAA10 CL E G H8260568Aggressive fibromatosisORPHA033318704300013
HP:0003307HP:0003307Hyperlordosis0NEB CL E G H4703171436ORPHA053137720161650
HP:0003307HP:0003307Hyperlordosis0NEB CL E G H4703171436ORPHA046747720161650
HP:0003307HP:0003307Hyperlordosis0NECTIN1 CL E G H58183253Limb dystoniaORPHA02079706600644
HP:0003307HP:0003307Hyperlordosis0NECTIN1 CL E G H58183253Limb dystoniaORPHA01999706600644
HP:0003307HP:0003307Hyperlordosis0NOTCH3 CL E G H48542789ORPHA09467883600276
HP:0003307HP:0003307Hyperlordosis0NOTCH3 CL E G H48542789ORPHA08607883600276
HP:0003307HP:0003307Hyperlordosis0OBSL1 CL E G H23363612921Three M syndrome 2612921C2752041OMIM062629092610991
HP:0003307HP:0003307Hyperlordosis0OBSL1 CL E G H23363612921Three M syndrome 2612921C2752041OMIM046129092610991
HP:0003307HP:0003307Hyperlordosis0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01249236601487
HP:0003307HP:0003307Hyperlordosis0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01089236601487
HP:0003307HP:0003307Hyperlordosis0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM03714951613257
HP:0003307HP:0003307Hyperlordosis0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM03514951613257
HP:0003307HP:0003307Hyperlordosis0RYR1 CL E G H6261169186ORPHA0460410483180901
HP:0003307HP:0003307Hyperlordosis0RYR1 CL E G H6261169186ORPHA0410110483180901
HP:0003307HP:0003307Hyperlordosis0SCN4A CL E G H632999735ORPHA0124110591603967
HP:0003307HP:0003307Hyperlordosis0SCN4A CL E G H632999735ORPHA0108110591603967
HP:0003307HP:0003307Hyperlordosis0SCN4A CL E G H6329614198Congenital myasthenic syndrome, acetazolamide-responsive614198C3502630OMIM0124110591603967
HP:0003307HP:0003307Hyperlordosis0SCN4A CL E G H6329614198Congenital myasthenic syndrome, acetazolamide-responsive614198C3502630OMIM0108110591603967
HP:0003307HP:0003307Hyperlordosis0SELENON CL E G H571902020ORPHA050515999606210
HP:0003307HP:0003307Hyperlordosis0SELENON CL E G H571902020ORPHA045415999606210
HP:0003307HP:0003307Hyperlordosis0SPEG CL E G H10290169186ORPHA063716901615950
HP:0003307HP:0003307Hyperlordosis0SPEG CL E G H10290169186ORPHA026516901615950
HP:0003307HP:0003307Hyperlordosis0SYNE1 CL E G H2334598853ORPHA0417017089608441
HP:0003307HP:0003307Hyperlordosis0SYNE1 CL E G H2334598853ORPHA0364117089608441
HP:0003307HP:0003307Hyperlordosis0SYNE2 CL E G H2322498853ORPHA0222217084608442
HP:0003307HP:0003307Hyperlordosis0SYNE2 CL E G H2322498853ORPHA0187517084608442
HP:0003307HP:0003307Hyperlordosis0TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA012811766190180
HP:0003307HP:0003307Hyperlordosis0TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA07411766190180
HP:0003307HP:0003307Hyperlordosis0TMEM43 CL E G H7918898853ORPHA065328472612048
HP:0003307HP:0003307Hyperlordosis0TMEM43 CL E G H7918898853ORPHA058528472612048
HP:0003307HP:0003307Hyperlordosis0TPM2 CL E G H71692020ORPHA024212011190990
HP:0003307HP:0003307Hyperlordosis0TPM2 CL E G H7169171436ORPHA024212011190990
HP:0003307HP:0003307Hyperlordosis0TPM2 CL E G H71692020ORPHA023412011190990
HP:0003307HP:0003307Hyperlordosis0TPM2 CL E G H7169171436ORPHA023412011190990
HP:0003307HP:0003307Hyperlordosis0TPM3 CL E G H71702020ORPHA028312012191030
HP:0003307HP:0003307Hyperlordosis0TPM3 CL E G H71702020ORPHA026112012191030
HP:0003307HP:0003307Hyperlordosis0TTN CL E G H7273169186ORPHA01902812403188840
HP:0003307HP:0003307Hyperlordosis0TTN CL E G H7273169186ORPHA01798412403188840
HP:0003307HP:0002938Lumbar hyperlordosis1ACTA1 CL E G H58171436ORPHA0325129102610
HP:0003307HP:0002938Lumbar hyperlordosis1ACTA1 CL E G H582020ORPHA0362129102610
HP:0003307HP:0002938Lumbar hyperlordosis1ACTA1 CL E G H58171436ORPHA0362129102610
HP:0003307HP:0002938Lumbar hyperlordosis1ACTA1 CL E G H582020ORPHA0325129102610
HP:0003307HP:0002938Lumbar hyperlordosis1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0205325603100
HP:0003307HP:0002938Lumbar hyperlordosis1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0203325603100
HP:0003307HP:0002938Lumbar hyperlordosis1ALG2 CL E G H85365616228Myasthenic syndrome, congenital, 14616228C4015597OMIM024123159607905
HP:0003307HP:0002938Lumbar hyperlordosis1ALG2 CL E G H85365616228Myasthenic syndrome, congenital, 14616228C4015597OMIM019323159607905
HP:0003307HP:0002938Lumbar hyperlordosis1AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA026326837300647
HP:0003307HP:0002938Lumbar hyperlordosis1AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA024526837300647
HP:0003307HP:0002938Lumbar hyperlordosis1BCOR CL E G H54880568Aggressive fibromatosisORPHA053620893300485
HP:0003307HP:0002938Lumbar hyperlordosis1BCOR CL E G H54880568Aggressive fibromatosisORPHA050220893300485
HP:0003307HP:0002938Lumbar hyperlordosis1BCR CL E G H613261330ORPHA02141014151410
HP:0003307HP:0002938Lumbar hyperlordosis1BCR CL E G H613261330ORPHA02171014151410
HP:0003307HP:0002938Lumbar hyperlordosis1BICD2 CL E G H23299363454ORPHA044517208609797
HP:0003307HP:0002938Lumbar hyperlordosis1BICD2 CL E G H23299363454ORPHA050617208609797
HP:0003307HP:0002938Lumbar hyperlordosis1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM050617208609797
HP:0003307HP:0002938Lumbar hyperlordosis1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM044517208609797
HP:0003307HP:0002938Lumbar hyperlordosis1BIN1 CL E G H274169186ORPHA04311052601248
HP:0003307HP:0002938Lumbar hyperlordosis1BIN1 CL E G H274169186ORPHA04871052601248
HP:0003307HP:0002938Lumbar hyperlordosis1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA037315832606158
HP:0003307HP:0002938Lumbar hyperlordosis1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA033015832606158
HP:0003307HP:0002938Lumbar hyperlordosis1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0851527601047
HP:0003307HP:0002938Lumbar hyperlordosis1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0811527601047
HP:0003307HP:0002938Lumbar hyperlordosis1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01109688603198
HP:0003307HP:0002938Lumbar hyperlordosis1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01099688603198
HP:0003307HP:0002938Lumbar hyperlordosis1CFL2 CL E G H1073171436ORPHA01281875601443
HP:0003307HP:0002938Lumbar hyperlordosis1CFL2 CL E G H1073171436ORPHA01391875601443
HP:0003307HP:0002938Lumbar hyperlordosis1CRKL CL E G H1399261330ORPHA03982363602007
HP:0003307HP:0002938Lumbar hyperlordosis1CRKL CL E G H1399261330ORPHA04062363602007
HP:0003307HP:0002938Lumbar hyperlordosis1CTSK CL E G H1513763ORPHA01862536601105
HP:0003307HP:0002938Lumbar hyperlordosis1CTSK CL E G H1513763ORPHA01632536601105
HP:0003307HP:0002938Lumbar hyperlordosis1ECEL1 CL E G H9427615065Distal arthrogryposis type 5D615065C3554415OMIM01533147605896
HP:0003307HP:0002938Lumbar hyperlordosis1ECEL1 CL E G H9427615065Distal arthrogryposis type 5D615065C3554415OMIM01503147605896
HP:0003307HP:0002938Lumbar hyperlordosis1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA02963255604032
HP:0003307HP:0002938Lumbar hyperlordosis1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA01783255604032
HP:0003307HP:0002938Lumbar hyperlordosis1EMD CL E G H201098863ORPHA05303331300384
HP:0003307HP:0002938Lumbar hyperlordosis1EMD CL E G H201098863ORPHA05793331300384
HP:0003307HP:0002938Lumbar hyperlordosis1FGFR3 CL E G H2261429Amniotic band syndromeORPHA05423690134934
HP:0003307HP:0002938Lumbar hyperlordosis1FGFR3 CL E G H2261429Amniotic band syndromeORPHA05413690134934
HP:0003307HP:0002938Lumbar hyperlordosis1FHL1 CL E G H227398863ORPHA04373702300163
HP:0003307HP:0002938Lumbar hyperlordosis1FHL1 CL E G H227398863ORPHA04863702300163
HP:0003307HP:0002938Lumbar hyperlordosis1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0293796164810
HP:0003307HP:0002938Lumbar hyperlordosis1HACD1 CL E G H92002020ORPHA0859639610467
HP:0003307HP:0002938Lumbar hyperlordosis1HACD1 CL E G H92002020ORPHA0479639610467
HP:0003307HP:0002938Lumbar hyperlordosis1ITGA7 CL E G H36792020ORPHA06286143600536
HP:0003307HP:0002938Lumbar hyperlordosis1ITGA7 CL E G H36792020ORPHA05236143600536
HP:0003307HP:0002938Lumbar hyperlordosis1KLHL41 CL E G H10324171436ORPHA015716905607701
HP:0003307HP:0002938Lumbar hyperlordosis1KLHL41 CL E G H10324171436ORPHA019916905607701
HP:0003307HP:0002938Lumbar hyperlordosis1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA027396482156225
HP:0003307HP:0002938Lumbar hyperlordosis1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA023276482156225
HP:0003307HP:0002938Lumbar hyperlordosis1LMNA CL E G H400098855ORPHA013476636150330
HP:0003307HP:0002938Lumbar hyperlordosis1LMNA CL E G H400098853ORPHA013476636150330
HP:0003307HP:0002938Lumbar hyperlordosis1LMNA CL E G H400098855ORPHA014866636150330
HP:0003307HP:0002938Lumbar hyperlordosis1LMNA CL E G H400098853ORPHA014866636150330
HP:0003307HP:0002938Lumbar hyperlordosis1LMOD3 CL E G H56203171436ORPHA02406649616112
HP:0003307HP:0002938Lumbar hyperlordosis1LMOD3 CL E G H56203171436ORPHA03086649616112
HP:0003307HP:0002938Lumbar hyperlordosis1MAP3K20 CL E G H517762020ORPHA016217797609479
HP:0003307HP:0002938Lumbar hyperlordosis1MAP3K20 CL E G H517762020ORPHA07617797609479
HP:0003307HP:0002938Lumbar hyperlordosis1MAPK1 CL E G H5594261330ORPHA01176871176948
HP:0003307HP:0002938Lumbar hyperlordosis1MAPK1 CL E G H5594261330ORPHA01206871176948
HP:0003307HP:0002938Lumbar hyperlordosis1MYH7 CL E G H4625437572ORPHA029607577160760
HP:0003307HP:0002938Lumbar hyperlordosis1MYH7 CL E G H4625437572ORPHA032927577160760
HP:0003307HP:0002938Lumbar hyperlordosis1MYL2 CL E G H46332020ORPHA04067583160781
HP:0003307HP:0002938Lumbar hyperlordosis1MYL2 CL E G H46332020ORPHA03557583160781
HP:0003307HP:0002938Lumbar hyperlordosis1NAA10 CL E G H8260568Aggressive fibromatosisORPHA034818704300013
HP:0003307HP:0002938Lumbar hyperlordosis1NAA10 CL E G H8260568Aggressive fibromatosisORPHA033318704300013
HP:0003307HP:0002938Lumbar hyperlordosis1NEB CL E G H4703171436ORPHA046747720161650
HP:0003307HP:0002938Lumbar hyperlordosis1NEB CL E G H4703171436ORPHA053137720161650
HP:0003307HP:0002938Lumbar hyperlordosis1NECTIN1 CL E G H58183253Limb dystoniaORPHA02079706600644
HP:0003307HP:0002938Lumbar hyperlordosis1NECTIN1 CL E G H58183253Limb dystoniaORPHA01999706600644
HP:0003307HP:0002938Lumbar hyperlordosis1NOTCH3 CL E G H48542789ORPHA09467883600276
HP:0003307HP:0002938Lumbar hyperlordosis1NOTCH3 CL E G H48542789ORPHA08607883600276
HP:0003307HP:0002938Lumbar hyperlordosis1OBSL1 CL E G H23363612921Three M syndrome 2612921C2752041OMIM062629092610991
HP:0003307HP:0002938Lumbar hyperlordosis1OBSL1 CL E G H23363612921Three M syndrome 2612921C2752041OMIM046129092610991
HP:0003307HP:0002938Lumbar hyperlordosis1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01249236601487
HP:0003307HP:0002938Lumbar hyperlordosis1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01089236601487
HP:0003307HP:0002938Lumbar hyperlordosis1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM03714951613257
HP:0003307HP:0002938Lumbar hyperlordosis1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM03514951613257
HP:0003307HP:0002938Lumbar hyperlordosis1RYR1 CL E G H6261169186ORPHA0410110483180901
HP:0003307HP:0002938Lumbar hyperlordosis1RYR1 CL E G H6261169186ORPHA0460410483180901
HP:0003307HP:0002938Lumbar hyperlordosis1SCN4A CL E G H632999735ORPHA0108110591603967
HP:0003307HP:0002938Lumbar hyperlordosis1SCN4A CL E G H632999735ORPHA0124110591603967
HP:0003307HP:0002938Lumbar hyperlordosis1SCN4A CL E G H6329614198Congenital myasthenic syndrome, acetazolamide-responsive614198C3502630OMIM0124110591603967
HP:0003307HP:0002938Lumbar hyperlordosis1SCN4A CL E G H6329614198Congenital myasthenic syndrome, acetazolamide-responsive614198C3502630OMIM0108110591603967
HP:0003307HP:0002938Lumbar hyperlordosis1SELENON CL E G H571902020ORPHA050515999606210
HP:0003307HP:0002938Lumbar hyperlordosis1SELENON CL E G H571902020ORPHA045415999606210
HP:0003307HP:0002938Lumbar hyperlordosis1SPEG CL E G H10290169186ORPHA026516901615950
HP:0003307HP:0002938Lumbar hyperlordosis1SPEG CL E G H10290169186ORPHA063716901615950
HP:0003307HP:0002938Lumbar hyperlordosis1SYNE1 CL E G H2334598853ORPHA0364117089608441
HP:0003307HP:0002938Lumbar hyperlordosis1SYNE1 CL E G H2334598853ORPHA0417017089608441
HP:0003307HP:0002938Lumbar hyperlordosis1SYNE2 CL E G H2322498853ORPHA0187517084608442
HP:0003307HP:0002938Lumbar hyperlordosis1SYNE2 CL E G H2322498853ORPHA0222217084608442
HP:0003307HP:0002938Lumbar hyperlordosis1TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA012811766190180
HP:0003307HP:0002938Lumbar hyperlordosis1TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA07411766190180
HP:0003307HP:0002938Lumbar hyperlordosis1TMEM43 CL E G H7918898853ORPHA058528472612048
HP:0003307HP:0002938Lumbar hyperlordosis1TMEM43 CL E G H7918898853ORPHA065328472612048
HP:0003307HP:0002938Lumbar hyperlordosis1TPM2 CL E G H7169171436ORPHA023412011190990
HP:0003307HP:0002938Lumbar hyperlordosis1TPM2 CL E G H71692020ORPHA024212011190990
HP:0003307HP:0002938Lumbar hyperlordosis1TPM2 CL E G H7169171436ORPHA024212011190990
HP:0003307HP:0002938Lumbar hyperlordosis1TPM2 CL E G H71692020ORPHA023412011190990
HP:0003307HP:0002938Lumbar hyperlordosis1TPM3 CL E G H71702020ORPHA028312012191030
HP:0003307HP:0002938Lumbar hyperlordosis1TPM3 CL E G H71702020ORPHA026112012191030
HP:0003307HP:0002938Lumbar hyperlordosis1TTN CL E G H7273169186ORPHA01798412403188840
HP:0003307HP:0002938Lumbar hyperlordosis1TTN CL E G H7273169186ORPHA01902812403188840


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 93315 94068 485 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 157973 98855 98853 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 August 2021 release.