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
Kyphosis (HP:0002808)help
Term ID: 2808
Name: Kyphosis
Synonym: Gibbus deformity; Hunched back; Hyperkyphosis; Round back
Definition: Exaggerated anterior convexity of the thoracic vertebral column.
Comments:
Reference: HP:0002808
Genes and Diseases:
 
       Child Nodes:
........expandKyphoscoliosis (HP:0002751) help
................... HP:0003423 Thoracolumbar kyphoscoliosis
................... HP:0004619 Lumbar kyphoscoliosis
................... HP:0008453 Congenital kyphoscoliosis
........expandThoracic kyphosis (HP:0002942) help
................... HP:0004633 Lower thoracic kyphosis
................... HP:0005619 Thoracolumbar kyphosis
........expandCervical kyphosis (HP:0002947) help

 Sister Nodes: 
..expandAbnormal cervical curvature (HP:0005905) help
..expandAbnormally straight spine (HP:0100795) help
..expandCamptocormia (HP:0100595) help
..expandHyperlordosis (HP:0003307) help
..expandScoliosis (HP:0002650) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002808HP:0002808Kyphosis0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1130757603234
HP:0002808HP:0002808Kyphosis0ACP5 CL E G H541855ORPHA1224124171640
HP:0002808HP:0002808Kyphosis0ACTB CL E G H6079107ORPHA1406132102630
HP:0002808HP:0002808Kyphosis0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0002808HP:0002808Kyphosis0AIFM1 CL E G H9131101078ORPHA14878768300169
HP:0002808HP:0002808Kyphosis0AIP CL E G H9049963ORPHA1741358605555
HP:0002808HP:0002808Kyphosis0AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1741358605555
HP:0002808HP:0002808Kyphosis0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA1634391164730
HP:0002808HP:0002808Kyphosis0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0002808HP:0002808Kyphosis0ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0002808HP:0002808Kyphosis0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM14321428606844
HP:0002808HP:0002808Kyphosis0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1120618040614556
HP:0002808HP:0002808Kyphosis0ASAH1 CL E G H427333ORPHA1712735613468
HP:0002808HP:0002808Kyphosis0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM123223805612991
HP:0002808HP:0002808Kyphosis0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM148418481611716
HP:0002808HP:0002808Kyphosis0ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM11283869300011
HP:0002808HP:0002808Kyphosis0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM151114262607270
HP:0002808HP:0002808Kyphosis0B3GALT6 CL E G H12679293359ORPHA136617978615291
HP:0002808HP:0002808Kyphosis0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1196961605681
HP:0002808HP:0002808Kyphosis0BGN CL E G H633300106Spondyloepimetaphyseal dysplasia X-linked300106C1848097OMIM13941044301870
HP:0002808HP:0002808Kyphosis0BICD2 CL E G H23299618291618291618291OMIM159017208609797
HP:0002808HP:0002808Kyphosis0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0002808HP:0002808Kyphosis0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM123919721613165
HP:0002808HP:0002808Kyphosis0CBS CL E G H875394ORPHA19671550613381
HP:0002808HP:0002808Kyphosis0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA125228909300859
HP:0002808HP:0002808Kyphosis0CCN6 CL E G H88381159ORPHA112212771603400
HP:0002808HP:0002808Kyphosis0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM12201967100730
HP:0002808HP:0002808Kyphosis0CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0002808HP:0002808Kyphosis0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11812586603432
HP:0002808HP:0002808Kyphosis0COL11A2 CL E G H13021427ORPHA112402187120290
HP:0002808HP:0002808Kyphosis0COL12A1 CL E G H130375840ORPHA119442188120320
HP:0002808HP:0002808Kyphosis0COL12A1 CL E G H1303616471Bethlem myopathy 2616471C4225313OMIM119442188120320
HP:0002808HP:0002808Kyphosis0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM120162197120150
HP:0002808HP:0002808Kyphosis0COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM120162197120150
HP:0002808HP:0002808Kyphosis0COL1A1 CL E G H1277166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM120162197120150
HP:0002808HP:0002808Kyphosis0COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM114582198120160
HP:0002808HP:0002808Kyphosis0COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM114582198120160
HP:0002808HP:0002808Kyphosis0COL1A2 CL E G H1278166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM114582198120160
HP:0002808HP:0002808Kyphosis0COL2A1 CL E G H128093346ORPHA118202200120140
HP:0002808HP:0002808Kyphosis0COL2A1 CL E G H1280485ORPHA118202200120140
HP:0002808HP:0002808Kyphosis0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM118202200120140
HP:0002808HP:0002808Kyphosis0COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM118202200120140
HP:0002808HP:0002808Kyphosis0COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM118202200120140
HP:0002808HP:0002808Kyphosis0COL6A1 CL E G H129175840ORPHA114702211120220
HP:0002808HP:0002808Kyphosis0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0002808HP:0002808Kyphosis0COL6A2 CL E G H129275840ORPHA116442212120240
HP:0002808HP:0002808Kyphosis0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0002808HP:0002808Kyphosis0COL6A3 CL E G H129375840ORPHA124142213120250
HP:0002808HP:0002808Kyphosis0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0002808HP:0002808Kyphosis0COMP CL E G H1311177170Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome177170C0410538OMIM14262227600310
HP:0002808HP:0002808Kyphosis0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002808HP:0002808Kyphosis0CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0002808HP:0002808Kyphosis0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002808HP:0002808Kyphosis0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM13472555300304
HP:0002808HP:0002808Kyphosis0DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12482909602768
HP:0002808HP:0002808Kyphosis0DYM CL E G H54808239ORPHA126021317607461
HP:0002808HP:0002808Kyphosis0DYM CL E G H54808607326Smith-McCort dysplasia 1607326C1846431OMIM126021317607461
HP:0002808HP:0002808Kyphosis0EBP CL E G H1068235173ORPHA12913133300205
HP:0002808HP:0002808Kyphosis0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17633327130160
HP:0002808HP:0002808Kyphosis0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM111703438609413
HP:0002808HP:0002808Kyphosis0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13903439609412
HP:0002808HP:0002808Kyphosis0ERLIN2 CL E G H11160209951ORPHA11591356611605
HP:0002808HP:0002808Kyphosis0ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11591356611605
HP:0002808HP:0002808Kyphosis0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM14163527601573
HP:0002808HP:0002808Kyphosis0FGFR3 CL E G H226193274ORPHA17463690134934
HP:0002808HP:0002808Kyphosis0FGFR3 CL E G H22611860ORPHA17463690134934
HP:0002808HP:0002808Kyphosis0FGFR3 CL E G H226115Antisocial personality disorderORPHA17463690134934
HP:0002808HP:0002808Kyphosis0FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM17463690134934
HP:0002808HP:0002808Kyphosis0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002808HP:0002808Kyphosis0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM15173702300163
HP:0002808HP:0002808Kyphosis0FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM15173702300163
HP:0002808HP:0002808Kyphosis0FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM129218169607063
HP:0002808HP:0002808Kyphosis0FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA129218169607063
HP:0002808HP:0002808Kyphosis0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002808HP:0002808Kyphosis0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002808HP:0002808Kyphosis0FOXG1 CL E G H2290261144ORPHA16143811164874
HP:0002808HP:0002808Kyphosis0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002808HP:0002808Kyphosis0FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA12224006612280
HP:0002808HP:0002808Kyphosis0GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM19444122612222
HP:0002808HP:0002808Kyphosis0GBA CL E G H262977259ORPHA14177606463
HP:0002808HP:0002808Kyphosis0GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM16964298611458
HP:0002808HP:0002808Kyphosis0GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM16964298611458
HP:0002808HP:0002808Kyphosis0GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM16964298611458
HP:0002808HP:0002808Kyphosis0GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM14454392139320
HP:0002808HP:0002808Kyphosis0GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM160323026607838
HP:0002808HP:0002808Kyphosis0GPR101 CL E G H83550963ORPHA119414963300393
HP:0002808HP:0002808Kyphosis0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11634659601679
HP:0002808HP:0002808Kyphosis0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12184661604318
HP:0002808HP:0002808Kyphosis0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1794670607434
HP:0002808HP:0002808Kyphosis0HACE1 CL E G H57531464282ORPHA110721033610876
HP:0002808HP:0002808Kyphosis0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM16184867605109
HP:0002808HP:0002808Kyphosis0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM16414868605837
HP:0002808HP:0002808Kyphosis0HES7 CL E G H846672311Autosomal recessive spondylocostal dysostosisCN043670ORPHA19615977608059
HP:0002808HP:0002808Kyphosis0HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002808HP:0002808Kyphosis0HSPG2 CL E G H3339800ORPHA118305273142461
HP:0002808HP:0002808Kyphosis0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17354851613004
HP:0002808HP:0002808Kyphosis0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM17685389300823
HP:0002808HP:0002808Kyphosis0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM113135391252800
HP:0002808HP:0002808Kyphosis0IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM113135391252800
HP:0002808HP:0002808Kyphosis0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM12946109601491
HP:0002808HP:0002808Kyphosis0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1121824565612452
HP:0002808HP:0002808Kyphosis0KIF22 CL E G H383593360ORPHA14116391603213
HP:0002808HP:0002808Kyphosis0KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM16120716611729
HP:0002808HP:0002808Kyphosis0KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM185113726606833
HP:0002808HP:0002808Kyphosis0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM18726576605739
HP:0002808HP:0002808Kyphosis0L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM17946470308840
HP:0002808HP:0002808Kyphosis0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM124325726300964
HP:0002808HP:0002808Kyphosis0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002808HP:0002808Kyphosis0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA12636556604407
HP:0002808HP:0002808Kyphosis0LFNG CL E G H39552311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12196560602576
HP:0002808HP:0002808Kyphosis0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12016613601329
HP:0002808HP:0002808Kyphosis0LMNA CL E G H4000740Aortic arch interruptionORPHA116226636150330
HP:0002808HP:0002808Kyphosis0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM16206814605283
HP:0002808HP:0002808Kyphosis0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM16206814605283
HP:0002808HP:0002808Kyphosis0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM117786990300005
HP:0002808HP:0002808Kyphosis0MESP2 CL E G H1458732311Autosomal recessive spondylocostal dysostosisCN043670ORPHA133729659605195
HP:0002808HP:0002808Kyphosis0MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0002808HP:0002808Kyphosis0MGME1 CL E G H92667352447ORPHA17816205615076
HP:0002808HP:0002808Kyphosis0MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17816205615076
HP:0002808HP:0002808Kyphosis0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13227114603856
HP:0002808HP:0002808Kyphosis0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0002808HP:0002808Kyphosis0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13037675602117
HP:0002808HP:0002808Kyphosis0NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM110818828606934
HP:0002808HP:0002808Kyphosis0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA117412768606026
HP:0002808HP:0002808Kyphosis0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM12047871300084
HP:0002808HP:0002808Kyphosis0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002808HP:0002808Kyphosis0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13271190610922
HP:0002808HP:0002808Kyphosis0NPR2 CL E G H488240ORPHA13937944108961
HP:0002808HP:0002808Kyphosis0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002808HP:0002808Kyphosis0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA136312766602952
HP:0002808HP:0002808Kyphosis0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM131213398300275
HP:0002808HP:0002808Kyphosis0NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA123518008612895
HP:0002808HP:0002808Kyphosis0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM15088108300535
HP:0002808HP:0002808Kyphosis0P3H1 CL E G H64175610915Osteogenesis imperfecta type 8610915C1970458OMIM149619316610339
HP:0002808HP:0002808Kyphosis0P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA11678548176790
HP:0002808HP:0002808Kyphosis0PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM11508773604961
HP:0002808HP:0002808Kyphosis0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM128518145300414
HP:0002808HP:0002808Kyphosis0PIEZO2 CL E G H638952461ORPHA175526270613629
HP:0002808HP:0002808Kyphosis0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM175526270613629
HP:0002808HP:0002808Kyphosis0PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0002808HP:0002808Kyphosis0PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM12328980603157
HP:0002808HP:0002808Kyphosis0PLAA CL E G H9373521426ORPHA13389043603873
HP:0002808HP:0002808Kyphosis0PLOD1 CL E G H53511900ORPHA17949081153454
HP:0002808HP:0002808Kyphosis0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM17949081153454
HP:0002808HP:0002808Kyphosis0PLOD2 CL E G H53522771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA13059082601865
HP:0002808HP:0002808Kyphosis0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM16099115601785
HP:0002808HP:0002808Kyphosis0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM138589175174761
HP:0002808HP:0002808Kyphosis0PPIB CL E G H5479259440Osteogenesis imperfecta type 9259440C1850169OMIM11219255123841
HP:0002808HP:0002808Kyphosis0PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM19169388188830
HP:0002808HP:0002808Kyphosis0PTCH1 CL E G H572777301ORPHA138489585601309
HP:0002808HP:0002808Kyphosis0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA127509588601728
HP:0002808HP:0002808Kyphosis0PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0002808HP:0002808Kyphosis0PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA133715508608109
HP:0002808HP:0002808Kyphosis0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM129530089600161
HP:0002808HP:0002808Kyphosis0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM130533235611215
HP:0002808HP:0002808Kyphosis0RAB18 CL E G H229312510ORPHA118014244602207
HP:0002808HP:0002808Kyphosis0RAB3GAP1 CL E G H229302510ORPHA131717063602536
HP:0002808HP:0002808Kyphosis0RAB3GAP2 CL E G H257822510ORPHA147417168609275
HP:0002808HP:0002808Kyphosis0RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM126929967164761
HP:0002808HP:0002808Kyphosis0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11809970600404
HP:0002808HP:0002808Kyphosis0RIPPLY2 CL E G H1347012311Autosomal recessive spondylocostal dysostosisCN043670ORPHA16921390609891
HP:0002808HP:0002808Kyphosis0ROBO3 CL E G H642212744ORPHA123413433608630
HP:0002808HP:0002808Kyphosis0ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA147410257602337
HP:0002808HP:0002808Kyphosis0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM142610432300075
HP:0002808HP:0002808Kyphosis0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA142610432300075
HP:0002808HP:0002808Kyphosis0RUNX2 CL E G H860119600Cleidocranial dysostosis119600C0008928OMIM137310472600211
HP:0002808HP:0002808Kyphosis0SCARB2 CL E G H95077259ORPHA14221665602257
HP:0002808HP:0002808Kyphosis0SEC24D CL E G H9871616294Cole-Carpenter syndrome 2616294C4225382OMIM128610706607186
HP:0002808HP:0002808Kyphosis0SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA128610706607186
HP:0002808HP:0002808Kyphosis0SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM161725566615743
HP:0002808HP:0002808Kyphosis0SH3PXD2B CL E G H285590137834ORPHA142829242613293
HP:0002808HP:0002808Kyphosis0SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM127529215300579
HP:0002808HP:0002808Kyphosis0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM122924624608005
HP:0002808HP:0002808Kyphosis0SLC26A2 CL E G H1836628ORPHA154910994606718
HP:0002808HP:0002808Kyphosis0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0002808HP:0002808Kyphosis0SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0002808HP:0002808Kyphosis0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM129733020609837
HP:0002808HP:0002808Kyphosis0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM129733067605436
HP:0002808HP:0002808Kyphosis0SNRPB CL E G H66281393ORPHA17411153182282
HP:0002808HP:0002808Kyphosis0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM137711164182279
HP:0002808HP:0002808Kyphosis0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM154911183182465
HP:0002808HP:0002808Kyphosis0TBC1D20 CL E G H1286372510ORPHA115416133611663
HP:0002808HP:0002808Kyphosis0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116611586605842
HP:0002808HP:0002808Kyphosis0TBX2 CL E G H6909618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION618223OMIM17011597600747
HP:0002808HP:0002808Kyphosis0TBX5 CL E G H6910392Weinstein Kliman Scully syndromeORPHA154511604601620
HP:0002808HP:0002808Kyphosis0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM115811742107580
HP:0002808HP:0002808Kyphosis0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM112211842608439
HP:0002808HP:0002808Kyphosis0TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM116811909602643
HP:0002808HP:0002808Kyphosis0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM11723098605204
HP:0002808HP:0002808Kyphosis0TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM114412009190450
HP:0002808HP:0002808Kyphosis0TRAPPC2 CL E G H6399313400Spondyloepiphyseal dysplasia tarda313400C3541456OMIM129123068300202
HP:0002808HP:0002808Kyphosis0TRPV4 CL E G H593412635ORPHA189118083605427
HP:0002808HP:0002808Kyphosis0TRPV4 CL E G H5934193314ORPHA189118083605427
HP:0002808HP:0002808Kyphosis0TRPV4 CL E G H59341113500Brachyrachia (short spine dysplasia)113500C0432227OMIM189118083605427
HP:0002808HP:0002808Kyphosis0TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM189118083605427
HP:0002808HP:0002808Kyphosis0TRPV4 CL E G H59341156530Metatrophic dysplasia156530C0265281OMIM189118083605427
HP:0002808HP:0002808Kyphosis0TRPV4 CL E G H59341168400Parastremmatic dwarfism168400C1868616OMIM189118083605427
HP:0002808HP:0002808Kyphosis0TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM189118083605427
HP:0002808HP:0002808Kyphosis0UBA1 CL E G H73171145ORPHA153112469314370
HP:0002808HP:0002808Kyphosis0UPF3B CL E G H65109300676Mental retardation, syndromic 14, X-linked300676C1970822OMIM131420439300298
HP:0002808HP:0002808Kyphosis0USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM113412631603158
HP:0002808HP:0002808Kyphosis0VPS37A CL E G H137492319199ORPHA119824928609927
HP:0002808HP:0002808Kyphosis0VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM119824928609927
HP:0002808HP:0002808Kyphosis0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA152728984610657
HP:0002808HP:0002808Kyphosis0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0002808HP:0002808Kyphosis0YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA115624249610957
HP:0002808HP:0002808Kyphosis0ZBTB20 CL E G H261373042ORPHA116813503606025
HP:0002808HP:0002808Kyphosis0ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM116813503606025
HP:0002808HP:0002808Kyphosis0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0002808HP:0002808Kyphosis0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA117612877606480
HP:0002808HP:0002942Thoracic kyphosis1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1130757603234
HP:0002808HP:0002751Kyphoscoliosis1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1130757603234
HP:0002808HP:0002947Cervical kyphosis1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1130757603234
HP:0002808HP:0002942Thoracic kyphosis1ACP5 CL E G H541855ORPHA1224124171640
HP:0002808HP:0002751Kyphoscoliosis1ACP5 CL E G H541855ORPHA1224124171640
HP:0002808HP:0002947Cervical kyphosis1ACP5 CL E G H541855ORPHA1224124171640
HP:0002808HP:0002947Cervical kyphosis1ACTB CL E G H6079107ORPHA1406132102630
HP:0002808HP:0002942Thoracic kyphosis1ACTB CL E G H6079107ORPHA1406132102630
HP:0002808HP:0002751Kyphoscoliosis1ACTB CL E G H6079107ORPHA1406132102630
HP:0002808HP:0002751Kyphoscoliosis1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0002808HP:0002947Cervical kyphosis1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0002808HP:0002942Thoracic kyphosis1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0002808HP:0002942Thoracic kyphosis1AIFM1 CL E G H9131101078ORPHA14878768300169
HP:0002808HP:0002751Kyphoscoliosis1AIFM1 CL E G H9131101078ORPHA14878768300169
HP:0002808HP:0002947Cervical kyphosis1AIFM1 CL E G H9131101078ORPHA14878768300169
HP:0002808HP:0002751Kyphoscoliosis1AIP CL E G H9049963ORPHA1741358605555
HP:0002808HP:0002947Cervical kyphosis1AIP CL E G H9049963ORPHA1741358605555
HP:0002808HP:0002942Thoracic kyphosis1AIP CL E G H9049963ORPHA1741358605555
HP:0002808HP:0002942Thoracic kyphosis1AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1741358605555
HP:0002808HP:0002751Kyphoscoliosis1AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1741358605555
HP:0002808HP:0002947Cervical kyphosis1AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1741358605555
HP:0002808HP:0002942Thoracic kyphosis1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA1634391164730
HP:0002808HP:0002751Kyphoscoliosis1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA1634391164730
HP:0002808HP:0002947Cervical kyphosis1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA1634391164730
HP:0002808HP:0002942Thoracic kyphosis1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0002808HP:0002751Kyphoscoliosis1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0002808HP:0002947Cervical kyphosis1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0002808HP:0002942Thoracic kyphosis1ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0002808HP:0002751Kyphoscoliosis1ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0002808HP:0002947Cervical kyphosis1ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0002808HP:0002942Thoracic kyphosis1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM14321428606844
HP:0002808HP:0002751Kyphoscoliosis1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM14321428606844
HP:0002808HP:0002947Cervical kyphosis1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM14321428606844
HP:0002808HP:0002751Kyphoscoliosis1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1120618040614556
HP:0002808HP:0002947Cervical kyphosis1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1120618040614556
HP:0002808HP:0002942Thoracic kyphosis1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1120618040614556
HP:0002808HP:0002947Cervical kyphosis1ASAH1 CL E G H427333ORPHA1712735613468
HP:0002808HP:0002942Thoracic kyphosis1ASAH1 CL E G H427333ORPHA1712735613468
HP:0002808HP:0002751Kyphoscoliosis1ASAH1 CL E G H427333ORPHA1712735613468
HP:0002808HP:0002751Kyphoscoliosis1ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM123223805612991
HP:0002808HP:0002947Cervical kyphosis1ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM123223805612991
HP:0002808HP:0002942Thoracic kyphosis1ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM123223805612991
HP:0002808HP:0002942Thoracic kyphosis1ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM148418481611716
HP:0002808HP:0002751Kyphoscoliosis1ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM148418481611716
HP:0002808HP:0002947Cervical kyphosis1ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM148418481611716
HP:0002808HP:0002947Cervical kyphosis1ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM11283869300011
HP:0002808HP:0002942Thoracic kyphosis1ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM11283869300011
HP:0002808HP:0002751Kyphoscoliosis1ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM11283869300011
HP:0002808HP:0002751Kyphoscoliosis1AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM151114262607270
HP:0002808HP:0002947Cervical kyphosis1AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM151114262607270
HP:0002808HP:0002942Thoracic kyphosis1AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM151114262607270
HP:0002808HP:0002942Thoracic kyphosis1B3GALT6 CL E G H12679293359ORPHA136617978615291
HP:0002808HP:0002751Kyphoscoliosis1B3GALT6 CL E G H12679293359ORPHA136617978615291
HP:0002808HP:0002947Cervical kyphosis1B3GALT6 CL E G H12679293359ORPHA136617978615291
HP:0002808HP:0002942Thoracic kyphosis1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1196961605681
HP:0002808HP:0002751Kyphoscoliosis1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1196961605681
HP:0002808HP:0002947Cervical kyphosis1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1196961605681
HP:0002808HP:0002947Cervical kyphosis1BGN CL E G H633300106Spondyloepimetaphyseal dysplasia X-linked300106C1848097OMIM13941044301870
HP:0002808HP:0002942Thoracic kyphosis1BGN CL E G H633300106Spondyloepimetaphyseal dysplasia X-linked300106C1848097OMIM13941044301870
HP:0002808HP:0002751Kyphoscoliosis1BGN CL E G H633300106Spondyloepimetaphyseal dysplasia X-linked300106C1848097OMIM13941044301870
HP:0002808HP:0002751Kyphoscoliosis1BICD2 CL E G H23299618291618291618291OMIM159017208609797
HP:0002808HP:0002947Cervical kyphosis1BICD2 CL E G H23299618291618291618291OMIM159017208609797
HP:0002808HP:0002942Thoracic kyphosis1BICD2 CL E G H23299618291618291618291OMIM159017208609797
HP:0002808HP:0002947Cervical kyphosis1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0002808HP:0002942Thoracic kyphosis1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0002808HP:0002751Kyphoscoliosis1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0002808HP:0002942Thoracic kyphosis1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM123919721613165
HP:0002808HP:0002751Kyphoscoliosis1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM123919721613165
HP:0002808HP:0002947Cervical kyphosis1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM123919721613165
HP:0002808HP:0002942Thoracic kyphosis1CBS CL E G H875394ORPHA19671550613381
HP:0002808HP:0002751Kyphoscoliosis1CBS CL E G H875394ORPHA19671550613381
HP:0002808HP:0002947Cervical kyphosis1CBS CL E G H875394ORPHA19671550613381
HP:0002808HP:0002942Thoracic kyphosis1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA125228909300859
HP:0002808HP:0002751Kyphoscoliosis1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA125228909300859
HP:0002808HP:0002947Cervical kyphosis1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA125228909300859
HP:0002808HP:0002942Thoracic kyphosis1CCN6 CL E G H88381159ORPHA112212771603400
HP:0002808HP:0002751Kyphoscoliosis1CCN6 CL E G H88381159ORPHA112212771603400
HP:0002808HP:0002947Cervical kyphosis1CCN6 CL E G H88381159ORPHA112212771603400
HP:0002808HP:0002947Cervical kyphosis1CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM12201967100730
HP:0002808HP:0002942Thoracic kyphosis1CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM12201967100730
HP:0002808HP:0002751Kyphoscoliosis1CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM12201967100730
HP:0002808HP:0002942Thoracic kyphosis1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0002808HP:0002751Kyphoscoliosis1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0002808HP:0002947Cervical kyphosis1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0002808HP:0002947Cervical kyphosis1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11812586603432
HP:0002808HP:0002942Thoracic kyphosis1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11812586603432
HP:0002808HP:0002751Kyphoscoliosis1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11812586603432
HP:0002808HP:0002751Kyphoscoliosis1COL11A2 CL E G H13021427ORPHA112402187120290
HP:0002808HP:0002947Cervical kyphosis1COL11A2 CL E G H13021427ORPHA112402187120290
HP:0002808HP:0002942Thoracic kyphosis1COL11A2 CL E G H13021427ORPHA112402187120290
HP:0002808HP:0002942Thoracic kyphosis1COL12A1 CL E G H130375840ORPHA119442188120320
HP:0002808HP:0002751Kyphoscoliosis1COL12A1 CL E G H130375840ORPHA119442188120320
HP:0002808HP:0002947Cervical kyphosis1COL12A1 CL E G H130375840ORPHA119442188120320
HP:0002808HP:0002751Kyphoscoliosis1COL12A1 CL E G H1303616471Bethlem myopathy 2616471C4225313OMIM119442188120320
HP:0002808HP:0002947Cervical kyphosis1COL12A1 CL E G H1303616471Bethlem myopathy 2616471C4225313OMIM119442188120320
HP:0002808HP:0002942Thoracic kyphosis1COL12A1 CL E G H1303616471Bethlem myopathy 2616471C4225313OMIM119442188120320
HP:0002808HP:0002942Thoracic kyphosis1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM120162197120150
HP:0002808HP:0002751Kyphoscoliosis1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM120162197120150
HP:0002808HP:0002947Cervical kyphosis1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM120162197120150
HP:0002808HP:0002947Cervical kyphosis1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM120162197120150
HP:0002808HP:0002942Thoracic kyphosis1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM120162197120150
HP:0002808HP:0002751Kyphoscoliosis1COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM120162197120150
HP:0002808HP:0002751Kyphoscoliosis1COL1A1 CL E G H1277166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM120162197120150
HP:0002808HP:0002947Cervical kyphosis1COL1A1 CL E G H1277166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM120162197120150
HP:0002808HP:0002942Thoracic kyphosis1COL1A1 CL E G H1277166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM120162197120150
HP:0002808HP:0002942Thoracic kyphosis1COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM114582198120160
HP:0002808HP:0002751Kyphoscoliosis1COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM114582198120160
HP:0002808HP:0002947Cervical kyphosis1COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM114582198120160
HP:0002808HP:0002942Thoracic kyphosis1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM114582198120160
HP:0002808HP:0002751Kyphoscoliosis1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM114582198120160
HP:0002808HP:0002947Cervical kyphosis1COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM114582198120160
HP:0002808HP:0002942Thoracic kyphosis1COL1A2 CL E G H1278166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM114582198120160
HP:0002808HP:0002751Kyphoscoliosis1COL1A2 CL E G H1278166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM114582198120160
HP:0002808HP:0002947Cervical kyphosis1COL1A2 CL E G H1278166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM114582198120160
HP:0002808HP:0002947Cervical kyphosis1COL2A1 CL E G H128093346ORPHA118202200120140
HP:0002808HP:0002947Cervical kyphosis1COL2A1 CL E G H1280485ORPHA118202200120140
HP:0002808HP:0002942Thoracic kyphosis1COL2A1 CL E G H128093346ORPHA118202200120140
HP:0002808HP:0002942Thoracic kyphosis1COL2A1 CL E G H1280485ORPHA118202200120140
HP:0002808HP:0002751Kyphoscoliosis1COL2A1 CL E G H128093346ORPHA118202200120140
HP:0002808HP:0002751Kyphoscoliosis1COL2A1 CL E G H1280485ORPHA118202200120140
HP:0002808HP:0002942Thoracic kyphosis1COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM118202200120140
HP:0002808HP:0002751Kyphoscoliosis1COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM118202200120140
HP:0002808HP:0002947Cervical kyphosis1COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM118202200120140
HP:0002808HP:0002942Thoracic kyphosis1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM118202200120140
HP:0002808HP:0002751Kyphoscoliosis1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM118202200120140
HP:0002808HP:0002947Cervical kyphosis1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM118202200120140
HP:0002808HP:0002751Kyphoscoliosis1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM118202200120140
HP:0002808HP:0002947Cervical kyphosis1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM118202200120140
HP:0002808HP:0002942Thoracic kyphosis1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM118202200120140
HP:0002808HP:0002947Cervical kyphosis1COL6A1 CL E G H129175840ORPHA114702211120220
HP:0002808HP:0002942Thoracic kyphosis1COL6A1 CL E G H129175840ORPHA114702211120220
HP:0002808HP:0002751Kyphoscoliosis1COL6A1 CL E G H129175840ORPHA114702211120220
HP:0002808HP:0002942Thoracic kyphosis1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0002808HP:0002751Kyphoscoliosis1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0002808HP:0002947Cervical kyphosis1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0002808HP:0002942Thoracic kyphosis1COL6A2 CL E G H129275840ORPHA116442212120240
HP:0002808HP:0002751Kyphoscoliosis1COL6A2 CL E G H129275840ORPHA116442212120240
HP:0002808HP:0002947Cervical kyphosis1COL6A2 CL E G H129275840ORPHA116442212120240
HP:0002808HP:0002947Cervical kyphosis1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0002808HP:0002942Thoracic kyphosis1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0002808HP:0002751Kyphoscoliosis1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0002808HP:0002947Cervical kyphosis1COL6A3 CL E G H129375840ORPHA124142213120250
HP:0002808HP:0002942Thoracic kyphosis1COL6A3 CL E G H129375840ORPHA124142213120250
HP:0002808HP:0002751Kyphoscoliosis1COL6A3 CL E G H129375840ORPHA124142213120250
HP:0002808HP:0002942Thoracic kyphosis1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0002808HP:0002751Kyphoscoliosis1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0002808HP:0002947Cervical kyphosis1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0002808HP:0002751Kyphoscoliosis1COMP CL E G H1311177170Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome177170C0410538OMIM14262227600310
HP:0002808HP:0002947Cervical kyphosis1COMP CL E G H1311177170Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome177170C0410538OMIM14262227600310
HP:0002808HP:0002942Thoracic kyphosis1COMP CL E G H1311177170Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome177170C0410538OMIM14262227600310
HP:0002808HP:0002751Kyphoscoliosis1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002808HP:0002947Cervical kyphosis1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002808HP:0002942Thoracic kyphosis1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002808HP:0002751Kyphoscoliosis1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0002808HP:0002947Cervical kyphosis1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0002808HP:0002942Thoracic kyphosis1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0002808HP:0002942Thoracic kyphosis1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002808HP:0002751Kyphoscoliosis1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002808HP:0002947Cervical kyphosis1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002808HP:0002947Cervical kyphosis1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM13472555300304
HP:0002808HP:0002942Thoracic kyphosis1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM13472555300304
HP:0002808HP:0002751Kyphoscoliosis1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM13472555300304
HP:0002808HP:0002751Kyphoscoliosis1DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12482909602768
HP:0002808HP:0002947Cervical kyphosis1DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12482909602768
HP:0002808HP:0002942Thoracic kyphosis1DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12482909602768
HP:0002808HP:0002942Thoracic kyphosis1DYM CL E G H54808239ORPHA126021317607461
HP:0002808HP:0002751Kyphoscoliosis1DYM CL E G H54808239ORPHA126021317607461
HP:0002808HP:0002947Cervical kyphosis1DYM CL E G H54808239ORPHA126021317607461
HP:0002808HP:0002942Thoracic kyphosis1DYM CL E G H54808607326Smith-McCort dysplasia 1607326C1846431OMIM126021317607461
HP:0002808HP:0002751Kyphoscoliosis1DYM CL E G H54808607326Smith-McCort dysplasia 1607326C1846431OMIM126021317607461
HP:0002808HP:0002947Cervical kyphosis1DYM CL E G H54808607326Smith-McCort dysplasia 1607326C1846431OMIM126021317607461
HP:0002808HP:0002947Cervical kyphosis1EBP CL E G H1068235173ORPHA12913133300205
HP:0002808HP:0002942Thoracic kyphosis1EBP CL E G H1068235173ORPHA12913133300205
HP:0002808HP:0002751Kyphoscoliosis1EBP CL E G H1068235173ORPHA12913133300205
HP:0002808HP:0002942Thoracic kyphosis1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17633327130160
HP:0002808HP:0002751Kyphoscoliosis1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17633327130160
HP:0002808HP:0002947Cervical kyphosis1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17633327130160
HP:0002808HP:0002942Thoracic kyphosis1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM111703438609413
HP:0002808HP:0002751Kyphoscoliosis1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM111703438609413
HP:0002808HP:0002947Cervical kyphosis1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM111703438609413
HP:0002808HP:0002942Thoracic kyphosis1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13903439609412
HP:0002808HP:0002751Kyphoscoliosis1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13903439609412
HP:0002808HP:0002947Cervical kyphosis1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13903439609412
HP:0002808HP:0002947Cervical kyphosis1ERLIN2 CL E G H11160209951ORPHA11591356611605
HP:0002808HP:0002942Thoracic kyphosis1ERLIN2 CL E G H11160209951ORPHA11591356611605
HP:0002808HP:0002751Kyphoscoliosis1ERLIN2 CL E G H11160209951ORPHA11591356611605
HP:0002808HP:0002942Thoracic kyphosis1ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11591356611605
HP:0002808HP:0002751Kyphoscoliosis1ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11591356611605
HP:0002808HP:0002947Cervical kyphosis1ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11591356611605
HP:0002808HP:0002947Cervical kyphosis1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM14163527601573
HP:0002808HP:0002942Thoracic kyphosis1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM14163527601573
HP:0002808HP:0002751Kyphoscoliosis1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM14163527601573
HP:0002808HP:0002947Cervical kyphosis1FGFR3 CL E G H226193274ORPHA17463690134934
HP:0002808HP:0002751Kyphoscoliosis1FGFR3 CL E G H22611860ORPHA17463690134934
HP:0002808HP:0002947Cervical kyphosis1FGFR3 CL E G H22611860ORPHA17463690134934
HP:0002808HP:0002942Thoracic kyphosis1FGFR3 CL E G H226193274ORPHA17463690134934
HP:0002808HP:0002751Kyphoscoliosis1FGFR3 CL E G H226193274ORPHA17463690134934
HP:0002808HP:0002942Thoracic kyphosis1FGFR3 CL E G H22611860ORPHA17463690134934
HP:0002808HP:0002942Thoracic kyphosis1FGFR3 CL E G H226115Antisocial personality disorderORPHA17463690134934
HP:0002808HP:0002751Kyphoscoliosis1FGFR3 CL E G H226115Antisocial personality disorderORPHA17463690134934
HP:0002808HP:0002947Cervical kyphosis1FGFR3 CL E G H226115Antisocial personality disorderORPHA17463690134934
HP:0002808HP:0002942Thoracic kyphosis1FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM17463690134934
HP:0002808HP:0002751Kyphoscoliosis1FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM17463690134934
HP:0002808HP:0002947Cervical kyphosis1FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM17463690134934
HP:0002808HP:0002751Kyphoscoliosis1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002808HP:0002947Cervical kyphosis1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002808HP:0002942Thoracic kyphosis1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002808HP:0002942Thoracic kyphosis1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM15173702300163
HP:0002808HP:0002751Kyphoscoliosis1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM15173702300163
HP:0002808HP:0002947Cervical kyphosis1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM15173702300163
HP:0002808HP:0002942Thoracic kyphosis1FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM15173702300163
HP:0002808HP:0002751Kyphoscoliosis1FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM15173702300163
HP:0002808HP:0002947Cervical kyphosis1FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM15173702300163
HP:0002808HP:0002942Thoracic kyphosis1FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM129218169607063
HP:0002808HP:0002751Kyphoscoliosis1FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM129218169607063
HP:0002808HP:0002947Cervical kyphosis1FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM129218169607063
HP:0002808HP:0002942Thoracic kyphosis1FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA129218169607063
HP:0002808HP:0002751Kyphoscoliosis1FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA129218169607063
HP:0002808HP:0002947Cervical kyphosis1FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA129218169607063
HP:0002808HP:0002942Thoracic kyphosis1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002808HP:0002751Kyphoscoliosis1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002808HP:0002947Cervical kyphosis1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002808HP:0002751Kyphoscoliosis1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002808HP:0002947Cervical kyphosis1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002808HP:0002942Thoracic kyphosis1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002808HP:0002942Thoracic kyphosis1FOXG1 CL E G H2290261144ORPHA16143811164874
HP:0002808HP:0002751Kyphoscoliosis1FOXG1 CL E G H2290261144ORPHA16143811164874
HP:0002808HP:0002947Cervical kyphosis1FOXG1 CL E G H2290261144ORPHA16143811164874
HP:0002808HP:0002751Kyphoscoliosis1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002808HP:0002947Cervical kyphosis1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002808HP:0002942Thoracic kyphosis1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002808HP:0002942Thoracic kyphosis1FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA12224006612280
HP:0002808HP:0002751Kyphoscoliosis1FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA12224006612280
HP:0002808HP:0002947Cervical kyphosis1FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA12224006612280
HP:0002808HP:0002942Thoracic kyphosis1GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM19444122612222
HP:0002808HP:0002751Kyphoscoliosis1GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM19444122612222
HP:0002808HP:0002947Cervical kyphosis1GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM19444122612222
HP:0002808HP:0002942Thoracic kyphosis1GBA CL E G H262977259ORPHA14177606463
HP:0002808HP:0002751Kyphoscoliosis1GBA CL E G H262977259ORPHA14177606463
HP:0002808HP:0002947Cervical kyphosis1GBA CL E G H262977259ORPHA14177606463
HP:0002808HP:0002942Thoracic kyphosis1GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM16964298611458
HP:0002808HP:0002751Kyphoscoliosis1GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM16964298611458
HP:0002808HP:0002947Cervical kyphosis1GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM16964298611458
HP:0002808HP:0002947Cervical kyphosis1GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM16964298611458
HP:0002808HP:0002942Thoracic kyphosis1GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM16964298611458
HP:0002808HP:0002751Kyphoscoliosis1GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM16964298611458
HP:0002808HP:0002947Cervical kyphosis1GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM16964298611458
HP:0002808HP:0002942Thoracic kyphosis1GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM16964298611458
HP:0002808HP:0002751Kyphoscoliosis1GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM16964298611458
HP:0002808HP:0002751Kyphoscoliosis1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM14454392139320
HP:0002808HP:0002947Cervical kyphosis1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM14454392139320
HP:0002808HP:0002942Thoracic kyphosis1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM14454392139320
HP:0002808HP:0002947Cervical kyphosis1GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM160323026607838
HP:0002808HP:0002942Thoracic kyphosis1GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM160323026607838
HP:0002808HP:0002751Kyphoscoliosis1GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM160323026607838
HP:0002808HP:0002942Thoracic kyphosis1GPR101 CL E G H83550963ORPHA119414963300393
HP:0002808HP:0002751Kyphoscoliosis1GPR101 CL E G H83550963ORPHA119414963300393
HP:0002808HP:0002947Cervical kyphosis1GPR101 CL E G H83550963ORPHA119414963300393
HP:0002808HP:0002947Cervical kyphosis1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11634659601679
HP:0002808HP:0002942Thoracic kyphosis1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11634659601679
HP:0002808HP:0002751Kyphoscoliosis1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11634659601679
HP:0002808HP:0002942Thoracic kyphosis1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12184661604318
HP:0002808HP:0002751Kyphoscoliosis1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12184661604318
HP:0002808HP:0002947Cervical kyphosis1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12184661604318
HP:0002808HP:0002751Kyphoscoliosis1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1794670607434
HP:0002808HP:0002947Cervical kyphosis1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1794670607434
HP:0002808HP:0002942Thoracic kyphosis1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1794670607434
HP:0002808HP:0002947Cervical kyphosis1HACE1 CL E G H57531464282ORPHA110721033610876
HP:0002808HP:0002942Thoracic kyphosis1HACE1 CL E G H57531464282ORPHA110721033610876
HP:0002808HP:0002751Kyphoscoliosis1HACE1 CL E G H57531464282ORPHA110721033610876
HP:0002808HP:0002751Kyphoscoliosis1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM16184867605109
HP:0002808HP:0002947Cervical kyphosis1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM16184867605109
HP:0002808HP:0002942Thoracic kyphosis1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM16184867605109
HP:0002808HP:0002751Kyphoscoliosis1HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM16414868605837
HP:0002808HP:0002947Cervical kyphosis1HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM16414868605837
HP:0002808HP:0002942Thoracic kyphosis1HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM16414868605837
HP:0002808HP:0002942Thoracic kyphosis1HES7 CL E G H846672311Autosomal recessive spondylocostal dysostosisCN043670ORPHA19615977608059
HP:0002808HP:0002751Kyphoscoliosis1HES7 CL E G H846672311Autosomal recessive spondylocostal dysostosisCN043670ORPHA19615977608059
HP:0002808HP:0002947Cervical kyphosis1HES7 CL E G H846672311Autosomal recessive spondylocostal dysostosisCN043670ORPHA19615977608059
HP:0002808HP:0002751Kyphoscoliosis1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002808HP:0002947Cervical kyphosis1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002808HP:0002942Thoracic kyphosis1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002808HP:0002942Thoracic kyphosis1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0002808HP:0002751Kyphoscoliosis1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0002808HP:0002947Cervical kyphosis1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0002808HP:0002942Thoracic kyphosis1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17354851613004
HP:0002808HP:0002751Kyphoscoliosis1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17354851613004
HP:0002808HP:0002947Cervical kyphosis1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17354851613004
HP:0002808HP:0002942Thoracic kyphosis1IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM17685389300823
HP:0002808HP:0002751Kyphoscoliosis1IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM17685389300823
HP:0002808HP:0002947Cervical kyphosis1IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM17685389300823
HP:0002808HP:0002947Cervical kyphosis1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM113135391252800
HP:0002808HP:0002942Thoracic kyphosis1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM113135391252800
HP:0002808HP:0002751Kyphoscoliosis1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM113135391252800
HP:0002808HP:0002942Thoracic kyphosis1IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM113135391252800
HP:0002808HP:0002751Kyphoscoliosis1IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM113135391252800
HP:0002808HP:0002947Cervical kyphosis1IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM113135391252800
HP:0002808HP:0002942Thoracic kyphosis1IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM12946109601491
HP:0002808HP:0002751Kyphoscoliosis1IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM12946109601491
HP:0002808HP:0002947Cervical kyphosis1IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM12946109601491
HP:0002808HP:0002942Thoracic kyphosis1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1121824565612452
HP:0002808HP:0002751Kyphoscoliosis1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1121824565612452
HP:0002808HP:0002947Cervical kyphosis1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1121824565612452
HP:0002808HP:0002947Cervical kyphosis1KIF22 CL E G H383593360ORPHA14116391603213
HP:0002808HP:0002942Thoracic kyphosis1KIF22 CL E G H383593360ORPHA14116391603213
HP:0002808HP:0002751Kyphoscoliosis1KIF22 CL E G H383593360ORPHA14116391603213
HP:0002808HP:0002751Kyphoscoliosis1KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM16120716611729
HP:0002808HP:0002947Cervical kyphosis1KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM16120716611729
HP:0002808HP:0002942Thoracic kyphosis1KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM16120716611729
HP:0002808HP:0002751Kyphoscoliosis1KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM185113726606833
HP:0002808HP:0002947Cervical kyphosis1KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM185113726606833
HP:0002808HP:0002942Thoracic kyphosis1KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM185113726606833
HP:0002808HP:0002942Thoracic kyphosis1KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM18726576605739
HP:0002808HP:0002751Kyphoscoliosis1KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM18726576605739
HP:0002808HP:0002947Cervical kyphosis1KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM18726576605739
HP:0002808HP:0002947Cervical kyphosis1L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM17946470308840
HP:0002808HP:0002942Thoracic kyphosis1L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM17946470308840
HP:0002808HP:0002751Kyphoscoliosis1L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM17946470308840
HP:0002808HP:0002947Cervical kyphosis1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM124325726300964
HP:0002808HP:0002942Thoracic kyphosis1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM124325726300964
HP:0002808HP:0002751Kyphoscoliosis1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM124325726300964
HP:0002808HP:0002942Thoracic kyphosis1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002808HP:0002751Kyphoscoliosis1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002808HP:0002947Cervical kyphosis1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002808HP:0002947Cervical kyphosis1LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA12636556604407
HP:0002808HP:0002942Thoracic kyphosis1LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA12636556604407
HP:0002808HP:0002751Kyphoscoliosis1LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA12636556604407
HP:0002808HP:0002751Kyphoscoliosis1LFNG CL E G H39552311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12196560602576
HP:0002808HP:0002947Cervical kyphosis1LFNG CL E G H39552311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12196560602576
HP:0002808HP:0002942Thoracic kyphosis1LFNG CL E G H39552311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12196560602576
HP:0002808HP:0002947Cervical kyphosis1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12016613601329
HP:0002808HP:0002942Thoracic kyphosis1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12016613601329
HP:0002808HP:0002751Kyphoscoliosis1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12016613601329
HP:0002808HP:0002942Thoracic kyphosis1LMNA CL E G H4000740Aortic arch interruptionORPHA116226636150330
HP:0002808HP:0002751Kyphoscoliosis1LMNA CL E G H4000740Aortic arch interruptionORPHA116226636150330
HP:0002808HP:0002947Cervical kyphosis1LMNA CL E G H4000740Aortic arch interruptionORPHA116226636150330
HP:0002808HP:0002751Kyphoscoliosis1MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM16206814605283
HP:0002808HP:0002947Cervical kyphosis1MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM16206814605283
HP:0002808HP:0002942Thoracic kyphosis1MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM16206814605283
HP:0002808HP:0002751Kyphoscoliosis1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM16206814605283
HP:0002808HP:0002947Cervical kyphosis1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM16206814605283
HP:0002808HP:0002942Thoracic kyphosis1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM16206814605283
HP:0002808HP:0002947Cervical kyphosis1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM117786990300005
HP:0002808HP:0002942Thoracic kyphosis1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM117786990300005
HP:0002808HP:0002751Kyphoscoliosis1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM117786990300005
HP:0002808HP:0002942Thoracic kyphosis1MESP2 CL E G H1458732311Autosomal recessive spondylocostal dysostosisCN043670ORPHA133729659605195
HP:0002808HP:0002751Kyphoscoliosis1MESP2 CL E G H1458732311Autosomal recessive spondylocostal dysostosisCN043670ORPHA133729659605195
HP:0002808HP:0002947Cervical kyphosis1MESP2 CL E G H1458732311Autosomal recessive spondylocostal dysostosisCN043670ORPHA133729659605195
HP:0002808HP:0002751Kyphoscoliosis1MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0002808HP:0002947Cervical kyphosis1MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0002808HP:0002942Thoracic kyphosis1MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0002808HP:0002942Thoracic kyphosis1MGME1 CL E G H92667352447ORPHA17816205615076
HP:0002808HP:0002751Kyphoscoliosis1MGME1 CL E G H92667352447ORPHA17816205615076
HP:0002808HP:0002947Cervical kyphosis1MGME1 CL E G H92667352447ORPHA17816205615076
HP:0002808HP:0002942Thoracic kyphosis1MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17816205615076
HP:0002808HP:0002751Kyphoscoliosis1MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17816205615076
HP:0002808HP:0002947Cervical kyphosis1MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17816205615076
HP:0002808HP:0002942Thoracic kyphosis1MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13227114603856
HP:0002808HP:0002751Kyphoscoliosis1MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13227114603856
HP:0002808HP:0002947Cervical kyphosis1MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13227114603856
HP:0002808HP:0002751Kyphoscoliosis1MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0002808HP:0002947Cervical kyphosis1MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0002808HP:0002942Thoracic kyphosis1MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0002808HP:0002942Thoracic kyphosis1NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13037675602117
HP:0002808HP:0002751Kyphoscoliosis1NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13037675602117
HP:0002808HP:0002947Cervical kyphosis1NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13037675602117
HP:0002808HP:0002942Thoracic kyphosis1NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM110818828606934
HP:0002808HP:0002751Kyphoscoliosis1NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM110818828606934
HP:0002808HP:0002947Cervical kyphosis1NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM110818828606934
HP:0002808HP:0002942Thoracic kyphosis1NELFA CL E G H7469280Halal Setton Wang syndromeORPHA117412768606026
HP:0002808HP:0002751Kyphoscoliosis1NELFA CL E G H7469280Halal Setton Wang syndromeORPHA117412768606026
HP:0002808HP:0002947Cervical kyphosis1NELFA CL E G H7469280Halal Setton Wang syndromeORPHA117412768606026
HP:0002808HP:0002947Cervical kyphosis1NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM12047871300084
HP:0002808HP:0002942Thoracic kyphosis1NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM12047871300084
HP:0002808HP:0002751Kyphoscoliosis1NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM12047871300084
HP:0002808HP:0002751Kyphoscoliosis1NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002808HP:0002947Cervical kyphosis1NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002808HP:0002942Thoracic kyphosis1NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002808HP:0002751Kyphoscoliosis1NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13271190610922
HP:0002808HP:0002947Cervical kyphosis1NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13271190610922
HP:0002808HP:0002942Thoracic kyphosis1NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13271190610922
HP:0002808HP:0002751Kyphoscoliosis1NPR2 CL E G H488240ORPHA13937944108961
HP:0002808HP:0002947Cervical kyphosis1NPR2 CL E G H488240ORPHA13937944108961
HP:0002808HP:0002942Thoracic kyphosis1NPR2 CL E G H488240ORPHA13937944108961
HP:0002808HP:0002751Kyphoscoliosis1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002808HP:0002947Cervical kyphosis1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002808HP:0002942Thoracic kyphosis1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002808HP:0002947Cervical kyphosis1NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA136312766602952
HP:0002808HP:0002942Thoracic kyphosis1NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA136312766602952
HP:0002808HP:0002751Kyphoscoliosis1NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA136312766602952
HP:0002808HP:0002947Cervical kyphosis1NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM131213398300275
HP:0002808HP:0002942Thoracic kyphosis1NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM131213398300275
HP:0002808HP:0002751Kyphoscoliosis1NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM131213398300275
HP:0002808HP:0002942Thoracic kyphosis1NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA123518008612895
HP:0002808HP:0002751Kyphoscoliosis1NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA123518008612895
HP:0002808HP:0002947Cervical kyphosis1NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA123518008612895
HP:0002808HP:0002942Thoracic kyphosis1OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM15088108300535
HP:0002808HP:0002751Kyphoscoliosis1OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM15088108300535
HP:0002808HP:0002947Cervical kyphosis1OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM15088108300535
HP:0002808HP:0002751Kyphoscoliosis1P3H1 CL E G H64175610915Osteogenesis imperfecta type 8610915C1970458OMIM149619316610339
HP:0002808HP:0002947Cervical kyphosis1P3H1 CL E G H64175610915Osteogenesis imperfecta type 8610915C1970458OMIM149619316610339
HP:0002808HP:0002942Thoracic kyphosis1P3H1 CL E G H64175610915Osteogenesis imperfecta type 8610915C1970458OMIM149619316610339
HP:0002808HP:0002751Kyphoscoliosis1P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA11678548176790
HP:0002808HP:0002947Cervical kyphosis1P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA11678548176790
HP:0002808HP:0002942Thoracic kyphosis1P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA11678548176790
HP:0002808HP:0002751Kyphoscoliosis1PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM11508773604961
HP:0002808HP:0002947Cervical kyphosis1PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM11508773604961
HP:0002808HP:0002942Thoracic kyphosis1PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM11508773604961
HP:0002808HP:0002942Thoracic kyphosis1PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM128518145300414
HP:0002808HP:0002751Kyphoscoliosis1PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM128518145300414
HP:0002808HP:0002947Cervical kyphosis1PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM128518145300414
HP:0002808HP:0002942Thoracic kyphosis1PIEZO2 CL E G H638952461ORPHA175526270613629
HP:0002808HP:0002751Kyphoscoliosis1PIEZO2 CL E G H638952461ORPHA175526270613629
HP:0002808HP:0002947Cervical kyphosis1PIEZO2 CL E G H638952461ORPHA175526270613629
HP:0002808HP:0002942Thoracic kyphosis1PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM175526270613629
HP:0002808HP:0002751Kyphoscoliosis1PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM175526270613629
HP:0002808HP:0002947Cervical kyphosis1PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM175526270613629
HP:0002808HP:0002751Kyphoscoliosis1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0002808HP:0002947Cervical kyphosis1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0002808HP:0002942Thoracic kyphosis1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0002808HP:0002947Cervical kyphosis1PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM12328980603157
HP:0002808HP:0002942Thoracic kyphosis1PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM12328980603157
HP:0002808HP:0002751Kyphoscoliosis1PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM12328980603157
HP:0002808HP:0002942Thoracic kyphosis1PLAA CL E G H9373521426ORPHA13389043603873
HP:0002808HP:0002751Kyphoscoliosis1PLAA CL E G H9373521426ORPHA13389043603873
HP:0002808HP:0002947Cervical kyphosis1PLAA CL E G H9373521426ORPHA13389043603873
HP:0002808HP:0002942Thoracic kyphosis1PLOD1 CL E G H53511900ORPHA17949081153454
HP:0002808HP:0002751Kyphoscoliosis1PLOD1 CL E G H53511900ORPHA17949081153454
HP:0002808HP:0002947Cervical kyphosis1PLOD1 CL E G H53511900ORPHA17949081153454
HP:0002808HP:0002942Thoracic kyphosis1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM17949081153454
HP:0002808HP:0002751Kyphoscoliosis1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM17949081153454
HP:0002808HP:0002947Cervical kyphosis1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM17949081153454
HP:0002808HP:0002947Cervical kyphosis1PLOD2 CL E G H53522771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA13059082601865
HP:0002808HP:0002942Thoracic kyphosis1PLOD2 CL E G H53522771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA13059082601865
HP:0002808HP:0002751Kyphoscoliosis1PLOD2 CL E G H53522771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA13059082601865
HP:0002808HP:0002751Kyphoscoliosis1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM16099115601785
HP:0002808HP:0002947Cervical kyphosis1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM16099115601785
HP:0002808HP:0002942Thoracic kyphosis1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM16099115601785
HP:0002808HP:0002751Kyphoscoliosis1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM138589175174761
HP:0002808HP:0002947Cervical kyphosis1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM138589175174761
HP:0002808HP:0002942Thoracic kyphosis1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM138589175174761
HP:0002808HP:0002947Cervical kyphosis1PPIB CL E G H5479259440Osteogenesis imperfecta type 9259440C1850169OMIM11219255123841
HP:0002808HP:0002942Thoracic kyphosis1PPIB CL E G H5479259440Osteogenesis imperfecta type 9259440C1850169OMIM11219255123841
HP:0002808HP:0002751Kyphoscoliosis1PPIB CL E G H5479259440Osteogenesis imperfecta type 9259440C1850169OMIM11219255123841
HP:0002808HP:0002942Thoracic kyphosis1PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM19169388188830
HP:0002808HP:0002751Kyphoscoliosis1PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM19169388188830
HP:0002808HP:0002947Cervical kyphosis1PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM19169388188830
HP:0002808HP:0002942Thoracic kyphosis1PTCH1 CL E G H572777301ORPHA138489585601309
HP:0002808HP:0002751Kyphoscoliosis1PTCH1 CL E G H572777301ORPHA138489585601309
HP:0002808HP:0002947Cervical kyphosis1PTCH1 CL E G H572777301ORPHA138489585601309
HP:0002808HP:0002947Cervical kyphosis1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA127509588601728
HP:0002808HP:0002942Thoracic kyphosis1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA127509588601728
HP:0002808HP:0002751Kyphoscoliosis1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA127509588601728
HP:0002808HP:0002751Kyphoscoliosis1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0002808HP:0002947Cervical kyphosis1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0002808HP:0002942Thoracic kyphosis1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0002808HP:0002751Kyphoscoliosis1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA133715508608109
HP:0002808HP:0002947Cervical kyphosis1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA133715508608109
HP:0002808HP:0002942Thoracic kyphosis1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA133715508608109
HP:0002808HP:0002942Thoracic kyphosis1PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM129530089600161
HP:0002808HP:0002751Kyphoscoliosis1PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM129530089600161
HP:0002808HP:0002947Cervical kyphosis1PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM129530089600161
HP:0002808HP:0002751Kyphoscoliosis1PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM130533235611215
HP:0002808HP:0002947Cervical kyphosis1PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM130533235611215
HP:0002808HP:0002942Thoracic kyphosis1PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM130533235611215
HP:0002808HP:0002751Kyphoscoliosis1RAB18 CL E G H229312510ORPHA118014244602207
HP:0002808HP:0002947Cervical kyphosis1RAB18 CL E G H229312510ORPHA118014244602207
HP:0002808HP:0002942Thoracic kyphosis1RAB18 CL E G H229312510ORPHA118014244602207
HP:0002808HP:0002942Thoracic kyphosis1RAB3GAP1 CL E G H229302510ORPHA131717063602536
HP:0002808HP:0002751Kyphoscoliosis1RAB3GAP1 CL E G H229302510ORPHA131717063602536
HP:0002808HP:0002947Cervical kyphosis1RAB3GAP1 CL E G H229302510ORPHA131717063602536
HP:0002808HP:0002751Kyphoscoliosis1RAB3GAP2 CL E G H257822510ORPHA147417168609275
HP:0002808HP:0002947Cervical kyphosis1RAB3GAP2 CL E G H257822510ORPHA147417168609275
HP:0002808HP:0002942Thoracic kyphosis1RAB3GAP2 CL E G H257822510ORPHA147417168609275
HP:0002808HP:0002942Thoracic kyphosis1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM126929967164761
HP:0002808HP:0002751Kyphoscoliosis1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM126929967164761
HP:0002808HP:0002947Cervical kyphosis1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM126929967164761
HP:0002808HP:0002942Thoracic kyphosis1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11809970600404
HP:0002808HP:0002751Kyphoscoliosis1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11809970600404
HP:0002808HP:0002947Cervical kyphosis1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11809970600404
HP:0002808HP:0002751Kyphoscoliosis1RIPPLY2 CL E G H1347012311Autosomal recessive spondylocostal dysostosisCN043670ORPHA16921390609891
HP:0002808HP:0002947Cervical kyphosis1RIPPLY2 CL E G H1347012311Autosomal recessive spondylocostal dysostosisCN043670ORPHA16921390609891
HP:0002808HP:0002942Thoracic kyphosis1RIPPLY2 CL E G H1347012311Autosomal recessive spondylocostal dysostosisCN043670ORPHA16921390609891
HP:0002808HP:0002947Cervical kyphosis1ROBO3 CL E G H642212744ORPHA123413433608630
HP:0002808HP:0002942Thoracic kyphosis1ROBO3 CL E G H642212744ORPHA123413433608630
HP:0002808HP:0002751Kyphoscoliosis1ROBO3 CL E G H642212744ORPHA123413433608630
HP:0002808HP:0002751Kyphoscoliosis1ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA147410257602337
HP:0002808HP:0002947Cervical kyphosis1ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA147410257602337
HP:0002808HP:0002942Thoracic kyphosis1ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA147410257602337
HP:0002808HP:0002942Thoracic kyphosis1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM142610432300075
HP:0002808HP:0002751Kyphoscoliosis1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM142610432300075
HP:0002808HP:0002947Cervical kyphosis1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM142610432300075
HP:0002808HP:0002751Kyphoscoliosis1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA142610432300075
HP:0002808HP:0002947Cervical kyphosis1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA142610432300075
HP:0002808HP:0002942Thoracic kyphosis1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA142610432300075
HP:0002808HP:0002942Thoracic kyphosis1RUNX2 CL E G H860119600Cleidocranial dysostosis119600C0008928OMIM137310472600211
HP:0002808HP:0002751Kyphoscoliosis1RUNX2 CL E G H860119600Cleidocranial dysostosis119600C0008928OMIM137310472600211
HP:0002808HP:0002947Cervical kyphosis1RUNX2 CL E G H860119600Cleidocranial dysostosis119600C0008928OMIM137310472600211
HP:0002808HP:0002947Cervical kyphosis1SCARB2 CL E G H95077259ORPHA14221665602257
HP:0002808HP:0002942Thoracic kyphosis1SCARB2 CL E G H95077259ORPHA14221665602257
HP:0002808HP:0002751Kyphoscoliosis1SCARB2 CL E G H95077259ORPHA14221665602257
HP:0002808HP:0002942Thoracic kyphosis1SEC24D CL E G H9871616294Cole-Carpenter syndrome 2616294C4225382OMIM128610706