Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the curvature of the vertebral column (HP:0010674)help
Parent Node:
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Kyphosis (HP:0002808)help
Parent Node:
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Scoliosis (HP:0002650)help
..Starting node
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Kyphoscoliosis (HP:0002751)help
Term ID: 2751
Name: Kyphoscoliosis
Synonym:
Definition: An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Comments:
Reference: HP:0002751
Genes and Diseases:
 
       Child Nodes:
........expandThoracolumbar kyphoscoliosis (HP:0003423) help
........expandLumbar kyphoscoliosis (HP:0004619) help
........expandCongenital kyphoscoliosis (HP:0008453) help

 Sister Nodes: 
..expandCompensatory scoliosis (HP:0100884) help
..expandProgressive congenital scoliosis (HP:0008458) help
..expandThoracic scoliosis (HP:0002943) help
..expandThoracolumbar scoliosis (HP:0002944) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002751HP:0002751Kyphoscoliosis0ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM1197124171640
HP:0002751HP:0002751Kyphoscoliosis0ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM1149124171640
HP:0002751HP:0002751Kyphoscoliosis0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1349132102630
HP:0002751HP:0002751Kyphoscoliosis0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1322132102630
HP:0002751HP:0002751Kyphoscoliosis0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM16610648603605
HP:0002751HP:0002751Kyphoscoliosis0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM15210648603605
HP:0002751HP:0002751Kyphoscoliosis0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1417391164730
HP:0002751HP:0002751Kyphoscoliosis0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1380391164730
HP:0002751HP:0002751Kyphoscoliosis0ATP6V0A2 CL E G H235452834ORPHA145818481611716
HP:0002751HP:0002751Kyphoscoliosis0ATP6V0A2 CL E G H235452834ORPHA141718481611716
HP:0002751HP:0002751Kyphoscoliosis0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1168857108746
HP:0002751HP:0002751Kyphoscoliosis0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1160857108746
HP:0002751HP:0002751Kyphoscoliosis0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0002751HP:0002751Kyphoscoliosis0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0002751HP:0002751Kyphoscoliosis0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11217886300032
HP:0002751HP:0002751Kyphoscoliosis0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11103886300032
HP:0002751HP:0002751Kyphoscoliosis0B3GALT6 CL E G H126792615349Ehlers-Danlos syndrome, progeroid type, 2615349C3809210OMIM133717978615291
HP:0002751HP:0002751Kyphoscoliosis0B3GALT6 CL E G H126792615349Ehlers-Danlos syndrome, progeroid type, 2615349C3809210OMIM128117978615291
HP:0002751HP:0002751Kyphoscoliosis0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0002751HP:0002751Kyphoscoliosis0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0002751HP:0002751Kyphoscoliosis0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0002751HP:0002751Kyphoscoliosis0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0002751HP:0002751Kyphoscoliosis0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0002751HP:0002751Kyphoscoliosis0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0002751HP:0002751Kyphoscoliosis0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM18561550613381
HP:0002751HP:0002751Kyphoscoliosis0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM17921550613381
HP:0002751HP:0002751Kyphoscoliosis0CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18712771603400
HP:0002751HP:0002751Kyphoscoliosis0CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18612771603400
HP:0002751HP:0002751Kyphoscoliosis0CHST3 CL E G H9469263463ORPHA12851971603799
HP:0002751HP:0002751Kyphoscoliosis0CHST3 CL E G H9469263463ORPHA13331971603799
HP:0002751HP:0002751Kyphoscoliosis0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13331971603799
HP:0002751HP:0002751Kyphoscoliosis0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM12851971603799
HP:0002751HP:0002751Kyphoscoliosis0COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM116782188120320
HP:0002751HP:0002751Kyphoscoliosis0COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM113672188120320
HP:0002751HP:0002751Kyphoscoliosis0COL2A1 CL E G H128093316ORPHA115402200120140
HP:0002751HP:0002751Kyphoscoliosis0COL2A1 CL E G H128085198ORPHA115402200120140
HP:0002751HP:0002751Kyphoscoliosis0COL2A1 CL E G H128085198ORPHA112132200120140
HP:0002751HP:0002751Kyphoscoliosis0COL2A1 CL E G H128093316ORPHA112132200120140
HP:0002751HP:0002751Kyphoscoliosis0COL2A1 CL E G H1280616583Spondyloepiphyseal dysplasia, stanescu type616583C4225273OMIM115402200120140
HP:0002751HP:0002751Kyphoscoliosis0COL2A1 CL E G H1280616583Spondyloepiphyseal dysplasia, stanescu type616583C4225273OMIM112132200120140
HP:0002751HP:0002751Kyphoscoliosis0CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM1712364604237
HP:0002751HP:0002751Kyphoscoliosis0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13482498604927
HP:0002751HP:0002751Kyphoscoliosis0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13232498604927
HP:0002751HP:0002751Kyphoscoliosis0DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM12282909602768
HP:0002751HP:0002751Kyphoscoliosis0DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM11852909602768
HP:0002751HP:0002751Kyphoscoliosis0DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM12902939601810
HP:0002751HP:0002751Kyphoscoliosis0DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM12232939601810
HP:0002751HP:0002751Kyphoscoliosis0DSTYK CL E G H25778101003ORPHA17529043612666
HP:0002751HP:0002751Kyphoscoliosis0DSTYK CL E G H25778101003ORPHA18629043612666
HP:0002751HP:0002751Kyphoscoliosis0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM12863239129010
HP:0002751HP:0002751Kyphoscoliosis0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM12453239129010
HP:0002751HP:0002751Kyphoscoliosis0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0002751HP:0002751Kyphoscoliosis0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0002751HP:0002751Kyphoscoliosis0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11103433126380
HP:0002751HP:0002751Kyphoscoliosis0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11063433126380
HP:0002751HP:0002751Kyphoscoliosis0ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM14793434126340
HP:0002751HP:0002751Kyphoscoliosis0ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM13603434126340
HP:0002751HP:0002751Kyphoscoliosis0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0002751HP:0002751Kyphoscoliosis0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0002751HP:0002751Kyphoscoliosis0EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM12233518605744
HP:0002751HP:0002751Kyphoscoliosis0EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM11183518605744
HP:0002751HP:0002751Kyphoscoliosis0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM154573603134797
HP:0002751HP:0002751Kyphoscoliosis0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM149683603134797
HP:0002751HP:0002751Kyphoscoliosis0FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM124118169607063
HP:0002751HP:0002751Kyphoscoliosis0FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM119218169607063
HP:0002751HP:0002751Kyphoscoliosis0FKBP14 CL E G H55033300179ORPHA111818625614505
HP:0002751HP:0002751Kyphoscoliosis0FKBP14 CL E G H55033300179ORPHA114418625614505
HP:0002751HP:0002751Kyphoscoliosis0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM114418625614505
HP:0002751HP:0002751Kyphoscoliosis0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM111818625614505
HP:0002751HP:0002751Kyphoscoliosis0FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM121303754300017
HP:0002751HP:0002751Kyphoscoliosis0FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM118933754300017
HP:0002751HP:0002751Kyphoscoliosis0GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM144415968606598
HP:0002751HP:0002751Kyphoscoliosis0GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM142315968606598
HP:0002751HP:0002751Kyphoscoliosis0GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM144415968606598
HP:0002751HP:0002751Kyphoscoliosis0GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM142315968606598
HP:0002751HP:0002751Kyphoscoliosis0GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM117425676607983
HP:0002751HP:0002751Kyphoscoliosis0GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM113025676607983
HP:0002751HP:0002751Kyphoscoliosis0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM169826527610453
HP:0002751HP:0002751Kyphoscoliosis0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM159426527610453
HP:0002751HP:0002751Kyphoscoliosis0HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0002751HP:0002751Kyphoscoliosis0HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM14675173190020
HP:0002751HP:0002751Kyphoscoliosis0HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM14115173190020
HP:0002751HP:0002751Kyphoscoliosis0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0002751HP:0002751Kyphoscoliosis0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0002751HP:0002751Kyphoscoliosis0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13375961300248
HP:0002751HP:0002751Kyphoscoliosis0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13265961300248
HP:0002751HP:0002751Kyphoscoliosis0JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM13814201605266
HP:0002751HP:0002751Kyphoscoliosis0JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM13714201605266
HP:0002751HP:0002751Kyphoscoliosis0KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM13416407190070
HP:0002751HP:0002751Kyphoscoliosis0KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM13316407190070
HP:0002751HP:0002751Kyphoscoliosis0KY CL E G H339855496689ORPHA17826576605739
HP:0002751HP:0002751Kyphoscoliosis0KY CL E G H339855496689ORPHA17926576605739
HP:0002751HP:0002751Kyphoscoliosis0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM127396482156225
HP:0002751HP:0002751Kyphoscoliosis0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM123276482156225
HP:0002751HP:0002751Kyphoscoliosis0LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM114866636150330
HP:0002751HP:0002751Kyphoscoliosis0LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM113476636150330
HP:0002751HP:0002751Kyphoscoliosis0LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM114866636150330
HP:0002751HP:0002751Kyphoscoliosis0LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM113476636150330
HP:0002751HP:0002751Kyphoscoliosis0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM111276697603506
HP:0002751HP:0002751Kyphoscoliosis0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM18616697603506
HP:0002751HP:0002751Kyphoscoliosis0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13366840176872
HP:0002751HP:0002751Kyphoscoliosis0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13066840176872
HP:0002751HP:0002751Kyphoscoliosis0MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM14886893157140
HP:0002751HP:0002751Kyphoscoliosis0MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM14656893157140
HP:0002751HP:0002751Kyphoscoliosis0MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM128529659605195
HP:0002751HP:0002751Kyphoscoliosis0MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM125729659605195
HP:0002751HP:0002751Kyphoscoliosis0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120112744605678
HP:0002751HP:0002751Kyphoscoliosis0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120012744605678
HP:0002751HP:0002751Kyphoscoliosis0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0002751HP:0002751Kyphoscoliosis0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0002751HP:0002751Kyphoscoliosis0MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM15227225159440
HP:0002751HP:0002751Kyphoscoliosis0MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM14937225159440
HP:0002751HP:0002751Kyphoscoliosis0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15227225159440
HP:0002751HP:0002751Kyphoscoliosis0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM14937225159440
HP:0002751HP:0002751Kyphoscoliosis0MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15227225159440
HP:0002751HP:0002751Kyphoscoliosis0MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM14937225159440
HP:0002751HP:0002751Kyphoscoliosis0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM15337573160720
HP:0002751HP:0002751Kyphoscoliosis0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM14447573160720
HP:0002751HP:0002751Kyphoscoliosis0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM134818704300013
HP:0002751HP:0002751Kyphoscoliosis0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM133318704300013
HP:0002751HP:0002751Kyphoscoliosis0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM16277882600275
HP:0002751HP:0002751Kyphoscoliosis0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM15267882600275
HP:0002751HP:0002751Kyphoscoliosis0NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM12267989164790
HP:0002751HP:0002751Kyphoscoliosis0NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM12127989164790
HP:0002751HP:0002751Kyphoscoliosis0PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11888604603005
HP:0002751HP:0002751Kyphoscoliosis0PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11478604603005
HP:0002751HP:0002751Kyphoscoliosis0PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM13638860601757
HP:0002751HP:0002751Kyphoscoliosis0PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM13108860601757
HP:0002751HP:0002751Kyphoscoliosis0PIEZO2 CL E G H63895114300Gordon's syndrome114300C0220666OMIM170926270613629
HP:0002751HP:0002751Kyphoscoliosis0PIEZO2 CL E G H63895114300Gordon's syndrome114300C0220666OMIM167226270613629
HP:0002751HP:0002751Kyphoscoliosis0PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14199118601097
HP:0002751HP:0002751Kyphoscoliosis0PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM13909118601097
HP:0002751HP:0002751Kyphoscoliosis0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14199118601097
HP:0002751HP:0002751Kyphoscoliosis0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM13909118601097
HP:0002751HP:0002751Kyphoscoliosis0PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14199118601097
HP:0002751HP:0002751Kyphoscoliosis0PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM13909118601097
HP:0002751HP:0002751Kyphoscoliosis0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13714951613257
HP:0002751HP:0002751Kyphoscoliosis0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13514951613257
HP:0002751HP:0002751Kyphoscoliosis0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM197213797605725
HP:0002751HP:0002751Kyphoscoliosis0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM186113797605725
HP:0002751HP:0002751Kyphoscoliosis0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM129889585601309
HP:0002751HP:0002751Kyphoscoliosis0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM126289585601309
HP:0002751HP:0002751Kyphoscoliosis0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM15419586603673
HP:0002751HP:0002751Kyphoscoliosis0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM14269586603673
HP:0002751HP:0002751Kyphoscoliosis0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM16299644176876
HP:0002751HP:0002751Kyphoscoliosis0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM15659644176876
HP:0002751HP:0002751Kyphoscoliosis0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM16299644176876
HP:0002751HP:0002751Kyphoscoliosis0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM15659644176876
HP:0002751HP:0002751Kyphoscoliosis0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM117514244602207
HP:0002751HP:0002751Kyphoscoliosis0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM117014244602207
HP:0002751HP:0002751Kyphoscoliosis0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM129017063602536
HP:0002751HP:0002751Kyphoscoliosis0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM127017063602536
HP:0002751HP:0002751Kyphoscoliosis0RBM28 CL E G H55131612079Alopecia, neurologic defects, and endocrinopathy syndrome612079C2677535OMIM15121863612074
HP:0002751HP:0002751Kyphoscoliosis0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM132749949603780
HP:0002751HP:0002751Kyphoscoliosis0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM127519949603780
HP:0002751HP:0002751Kyphoscoliosis0RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM140410432300075
HP:0002751HP:0002751Kyphoscoliosis0RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM138310432300075
HP:0002751HP:0002751Kyphoscoliosis0RYR1 CL E G H6261597ORPHA1460410483180901
HP:0002751HP:0002751Kyphoscoliosis0RYR1 CL E G H6261597ORPHA1410110483180901
HP:0002751HP:0002751Kyphoscoliosis0RYR1 CL E G H6261117000117000117000OMIM1460410483180901
HP:0002751HP:0002751Kyphoscoliosis0RYR1 CL E G H6261117000117000117000OMIM1410110483180901
HP:0002751HP:0002751Kyphoscoliosis0SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM110802135607697
HP:0002751HP:0002751Kyphoscoliosis0SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM19632135607697
HP:0002751HP:0002751Kyphoscoliosis0SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM113310940600300
HP:0002751HP:0002751Kyphoscoliosis0SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM17210940600300
HP:0002751HP:0002751Kyphoscoliosis0SLC26A2 CL E G H1836222600Diastrophic dysplasia222600C0220726OMIM149210994606718
HP:0002751HP:0002751Kyphoscoliosis0SLC26A2 CL E G H1836222600Diastrophic dysplasia222600C0220726OMIM143210994606718
HP:0002751HP:0002751Kyphoscoliosis0SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM125611123300105
HP:0002751HP:0002751Kyphoscoliosis0SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM124411123300105
HP:0002751HP:0002751Kyphoscoliosis0SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM124211204608160
HP:0002751HP:0002751Kyphoscoliosis0SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM121111204608160
HP:0002751HP:0002751Kyphoscoliosis0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM124618514607111
HP:0002751HP:0002751Kyphoscoliosis0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM121518514607111
HP:0002751HP:0002751Kyphoscoliosis0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM116028423615521
HP:0002751HP:0002751Kyphoscoliosis0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM112928423615521
HP:0002751HP:0002751Kyphoscoliosis0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM181516466607035
HP:0002751HP:0002751Kyphoscoliosis0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM170316466607035
HP:0002751HP:0002751Kyphoscoliosis0SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM131311474185620
HP:0002751HP:0002751Kyphoscoliosis0SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM124911474185620
HP:0002751HP:0002751Kyphoscoliosis0TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM125624519613847
HP:0002751HP:0002751Kyphoscoliosis0TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM114824519613847
HP:0002751HP:0002751Kyphoscoliosis0TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM115829099611140
HP:0002751HP:0002751Kyphoscoliosis0TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM114929099611140
HP:0002751HP:0002751Kyphoscoliosis0TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM110830760614726
HP:0002751HP:0002751Kyphoscoliosis0TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM19130760614726
HP:0002751HP:0002751Kyphoscoliosis0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM124212011190990
HP:0002751HP:0002751Kyphoscoliosis0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM123412011190990
HP:0002751HP:0002751Kyphoscoliosis0TRPV4 CL E G H5934193304ORPHA178118083605427
HP:0002751HP:0002751Kyphoscoliosis0TRPV4 CL E G H5934193304ORPHA170318083605427
HP:0002751HP:0002751Kyphoscoliosis0TRPV4 CL E G H59341184252Spondylometaphyseal dysplasia, Kozlowski type184252C0265280OMIM178118083605427
HP:0002751HP:0002751Kyphoscoliosis0TRPV4 CL E G H59341184252Spondylometaphyseal dysplasia, Kozlowski type184252C0265280OMIM170318083605427
HP:0002751HP:0002751Kyphoscoliosis0TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM110326262614426
HP:0002751HP:0002751Kyphoscoliosis0TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM19626262614426
HP:0002751HP:0002751Kyphoscoliosis0ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM116712877606480
HP:0002751HP:0002751Kyphoscoliosis0ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM114912877606480
HP:0002751HP:0008453Congenital kyphoscoliosis1ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM1197124171640
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM1197124171640
HP:0002751HP:0008453Congenital kyphoscoliosis1ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM1149124171640
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM1149124171640
HP:0002751HP:0004619Lumbar kyphoscoliosis1ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM1197124171640
HP:0002751HP:0004619Lumbar kyphoscoliosis1ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM1149124171640
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1349132102630
HP:0002751HP:0008453Congenital kyphoscoliosis1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1349132102630
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1322132102630
HP:0002751HP:0008453Congenital kyphoscoliosis1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1322132102630
HP:0002751HP:0004619Lumbar kyphoscoliosis1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1349132102630
HP:0002751HP:0004619Lumbar kyphoscoliosis1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1322132102630
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM16610648603605
HP:0002751HP:0008453Congenital kyphoscoliosis1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM16610648603605
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM15210648603605
HP:0002751HP:0008453Congenital kyphoscoliosis1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM15210648603605
HP:0002751HP:0004619Lumbar kyphoscoliosis1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM16610648603605
HP:0002751HP:0004619Lumbar kyphoscoliosis1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM15210648603605
HP:0002751HP:0008453Congenital kyphoscoliosis1AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1417391164730
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1417391164730
HP:0002751HP:0008453Congenital kyphoscoliosis1AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1380391164730
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1380391164730
HP:0002751HP:0004619Lumbar kyphoscoliosis1AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1417391164730
HP:0002751HP:0004619Lumbar kyphoscoliosis1AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1380391164730
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ATP6V0A2 CL E G H235452834ORPHA145818481611716
HP:0002751HP:0008453Congenital kyphoscoliosis1ATP6V0A2 CL E G H235452834ORPHA145818481611716
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ATP6V0A2 CL E G H235452834ORPHA141718481611716
HP:0002751HP:0008453Congenital kyphoscoliosis1ATP6V0A2 CL E G H235452834ORPHA141718481611716
HP:0002751HP:0004619Lumbar kyphoscoliosis1ATP6V0A2 CL E G H235452834ORPHA145818481611716
HP:0002751HP:0004619Lumbar kyphoscoliosis1ATP6V0A2 CL E G H235452834ORPHA141718481611716
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1168857108746
HP:0002751HP:0008453Congenital kyphoscoliosis1ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1168857108746
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1160857108746
HP:0002751HP:0008453Congenital kyphoscoliosis1ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1160857108746
HP:0002751HP:0004619Lumbar kyphoscoliosis1ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1168857108746
HP:0002751HP:0004619Lumbar kyphoscoliosis1ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1160857108746
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0002751HP:0008453Congenital kyphoscoliosis1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0002751HP:0008453Congenital kyphoscoliosis1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0002751HP:0004619Lumbar kyphoscoliosis1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0002751HP:0004619Lumbar kyphoscoliosis1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11217886300032
HP:0002751HP:0008453Congenital kyphoscoliosis1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11217886300032
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11103886300032
HP:0002751HP:0008453Congenital kyphoscoliosis1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11103886300032
HP:0002751HP:0004619Lumbar kyphoscoliosis1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11217886300032
HP:0002751HP:0004619Lumbar kyphoscoliosis1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11103886300032
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1B3GALT6 CL E G H126792615349Ehlers-Danlos syndrome, progeroid type, 2615349C3809210OMIM133717978615291
HP:0002751HP:0008453Congenital kyphoscoliosis1B3GALT6 CL E G H126792615349Ehlers-Danlos syndrome, progeroid type, 2615349C3809210OMIM133717978615291
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1B3GALT6 CL E G H126792615349Ehlers-Danlos syndrome, progeroid type, 2615349C3809210OMIM128117978615291
HP:0002751HP:0008453Congenital kyphoscoliosis1B3GALT6 CL E G H126792615349Ehlers-Danlos syndrome, progeroid type, 2615349C3809210OMIM128117978615291
HP:0002751HP:0004619Lumbar kyphoscoliosis1B3GALT6 CL E G H126792615349Ehlers-Danlos syndrome, progeroid type, 2615349C3809210OMIM133717978615291
HP:0002751HP:0004619Lumbar kyphoscoliosis1B3GALT6 CL E G H126792615349Ehlers-Danlos syndrome, progeroid type, 2615349C3809210OMIM128117978615291
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0002751HP:0008453Congenital kyphoscoliosis1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0002751HP:0008453Congenital kyphoscoliosis1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0002751HP:0004619Lumbar kyphoscoliosis1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0002751HP:0004619Lumbar kyphoscoliosis1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0002751HP:0008453Congenital kyphoscoliosis1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0002751HP:0008453Congenital kyphoscoliosis1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0002751HP:0004619Lumbar kyphoscoliosis1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0002751HP:0004619Lumbar kyphoscoliosis1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0002751HP:0008453Congenital kyphoscoliosis1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0002751HP:0008453Congenital kyphoscoliosis1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0002751HP:0004619Lumbar kyphoscoliosis1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0002751HP:0004619Lumbar kyphoscoliosis1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM18561550613381
HP:0002751HP:0008453Congenital kyphoscoliosis1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM18561550613381
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM17921550613381
HP:0002751HP:0008453Congenital kyphoscoliosis1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM17921550613381
HP:0002751HP:0004619Lumbar kyphoscoliosis1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM18561550613381
HP:0002751HP:0004619Lumbar kyphoscoliosis1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM17921550613381
HP:0002751HP:0008453Congenital kyphoscoliosis1CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18712771603400
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18712771603400
HP:0002751HP:0008453Congenital kyphoscoliosis1CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18612771603400
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18612771603400
HP:0002751HP:0004619Lumbar kyphoscoliosis1CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18712771603400
HP:0002751HP:0004619Lumbar kyphoscoliosis1CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18612771603400
HP:0002751HP:0004619Lumbar kyphoscoliosis1CHST3 CL E G H9469263463ORPHA12851971603799
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1CHST3 CL E G H9469263463ORPHA13331971603799
HP:0002751HP:0008453Congenital kyphoscoliosis1CHST3 CL E G H9469263463ORPHA13331971603799
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1CHST3 CL E G H9469263463ORPHA12851971603799
HP:0002751HP:0008453Congenital kyphoscoliosis1CHST3 CL E G H9469263463ORPHA12851971603799
HP:0002751HP:0004619Lumbar kyphoscoliosis1CHST3 CL E G H9469263463ORPHA13331971603799
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13331971603799
HP:0002751HP:0008453Congenital kyphoscoliosis1CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13331971603799
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM12851971603799
HP:0002751HP:0008453Congenital kyphoscoliosis1CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM12851971603799
HP:0002751HP:0004619Lumbar kyphoscoliosis1CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13331971603799
HP:0002751HP:0004619Lumbar kyphoscoliosis1CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM12851971603799
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM116782188120320
HP:0002751HP:0008453Congenital kyphoscoliosis1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM116782188120320
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM113672188120320
HP:0002751HP:0008453Congenital kyphoscoliosis1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM113672188120320
HP:0002751HP:0004619Lumbar kyphoscoliosis1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM116782188120320
HP:0002751HP:0004619Lumbar kyphoscoliosis1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM113672188120320
HP:0002751HP:0008453Congenital kyphoscoliosis1COL2A1 CL E G H128085198ORPHA115402200120140
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1COL2A1 CL E G H128093316ORPHA115402200120140
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1COL2A1 CL E G H128085198ORPHA115402200120140
HP:0002751HP:0008453Congenital kyphoscoliosis1COL2A1 CL E G H128093316ORPHA115402200120140
HP:0002751HP:0008453Congenital kyphoscoliosis1COL2A1 CL E G H128085198ORPHA112132200120140
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1COL2A1 CL E G H128093316ORPHA112132200120140
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1COL2A1 CL E G H128085198ORPHA112132200120140
HP:0002751HP:0008453Congenital kyphoscoliosis1COL2A1 CL E G H128093316ORPHA112132200120140
HP:0002751HP:0004619Lumbar kyphoscoliosis1COL2A1 CL E G H128093316ORPHA115402200120140
HP:0002751HP:0004619Lumbar kyphoscoliosis1COL2A1 CL E G H128085198ORPHA115402200120140
HP:0002751HP:0004619Lumbar kyphoscoliosis1COL2A1 CL E G H128093316ORPHA112132200120140
HP:0002751HP:0004619Lumbar kyphoscoliosis1COL2A1 CL E G H128085198ORPHA112132200120140
HP:0002751HP:0008453Congenital kyphoscoliosis1COL2A1 CL E G H1280616583Spondyloepiphyseal dysplasia, stanescu type616583C4225273OMIM115402200120140
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1COL2A1 CL E G H1280616583Spondyloepiphyseal dysplasia, stanescu type616583C4225273OMIM115402200120140
HP:0002751HP:0008453Congenital kyphoscoliosis1COL2A1 CL E G H1280616583Spondyloepiphyseal dysplasia, stanescu type616583C4225273OMIM112132200120140
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1COL2A1 CL E G H1280616583Spondyloepiphyseal dysplasia, stanescu type616583C4225273OMIM112132200120140
HP:0002751HP:0004619Lumbar kyphoscoliosis1COL2A1 CL E G H1280616583Spondyloepiphyseal dysplasia, stanescu type616583C4225273OMIM115402200120140
HP:0002751HP:0004619Lumbar kyphoscoliosis1COL2A1 CL E G H1280616583Spondyloepiphyseal dysplasia, stanescu type616583C4225273OMIM112132200120140
HP:0002751HP:0004619Lumbar kyphoscoliosis1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM1712364604237
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM1712364604237
HP:0002751HP:0008453Congenital kyphoscoliosis1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM1712364604237
HP:0002751HP:0008453Congenital kyphoscoliosis1CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13482498604927
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13482498604927
HP:0002751HP:0008453Congenital kyphoscoliosis1CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13232498604927
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13232498604927
HP:0002751HP:0004619Lumbar kyphoscoliosis1CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13482498604927
HP:0002751HP:0004619Lumbar kyphoscoliosis1CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13232498604927
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM12282909602768
HP:0002751HP:0008453Congenital kyphoscoliosis1DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM12282909602768
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM11852909602768
HP:0002751HP:0008453Congenital kyphoscoliosis1DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM11852909602768
HP:0002751HP:0004619Lumbar kyphoscoliosis1DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM12282909602768
HP:0002751HP:0004619Lumbar kyphoscoliosis1DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM11852909602768
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM12902939601810
HP:0002751HP:0008453Congenital kyphoscoliosis1DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM12902939601810
HP:0002751HP:0008453Congenital kyphoscoliosis1DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM12232939601810
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM12232939601810
HP:0002751HP:0004619Lumbar kyphoscoliosis1DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM12902939601810
HP:0002751HP:0004619Lumbar kyphoscoliosis1DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM12232939601810
HP:0002751HP:0004619Lumbar kyphoscoliosis1DSTYK CL E G H25778101003ORPHA17529043612666
HP:0002751HP:0008453Congenital kyphoscoliosis1DSTYK CL E G H25778101003ORPHA18629043612666
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1DSTYK CL E G H25778101003ORPHA18629043612666
HP:0002751HP:0008453Congenital kyphoscoliosis1DSTYK CL E G H25778101003ORPHA17529043612666
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1DSTYK CL E G H25778101003ORPHA17529043612666
HP:0002751HP:0004619Lumbar kyphoscoliosis1DSTYK CL E G H25778101003ORPHA18629043612666
HP:0002751HP:0008453Congenital kyphoscoliosis1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM12863239129010
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM12863239129010
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM12453239129010
HP:0002751HP:0008453Congenital kyphoscoliosis1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM12453239129010
HP:0002751HP:0004619Lumbar kyphoscoliosis1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM12863239129010
HP:0002751HP:0004619Lumbar kyphoscoliosis1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM12453239129010
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0002751HP:0008453Congenital kyphoscoliosis1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0002751HP:0008453Congenital kyphoscoliosis1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0002751HP:0004619Lumbar kyphoscoliosis1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0002751HP:0004619Lumbar kyphoscoliosis1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11103433126380
HP:0002751HP:0008453Congenital kyphoscoliosis1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11103433126380
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11063433126380
HP:0002751HP:0008453Congenital kyphoscoliosis1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11063433126380
HP:0002751HP:0004619Lumbar kyphoscoliosis1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11103433126380
HP:0002751HP:0004619Lumbar kyphoscoliosis1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11063433126380
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM14793434126340
HP:0002751HP:0008453Congenital kyphoscoliosis1ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM14793434126340
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM13603434126340
HP:0002751HP:0008453Congenital kyphoscoliosis1ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM13603434126340
HP:0002751HP:0004619Lumbar kyphoscoliosis1ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM14793434126340
HP:0002751HP:0004619Lumbar kyphoscoliosis1ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM13603434126340
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0002751HP:0008453Congenital kyphoscoliosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0002751HP:0008453Congenital kyphoscoliosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0002751HP:0004619Lumbar kyphoscoliosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0002751HP:0004619Lumbar kyphoscoliosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0002751HP:0008453Congenital kyphoscoliosis1EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM12233518605744
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM12233518605744
HP:0002751HP:0008453Congenital kyphoscoliosis1EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM11183518605744
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM11183518605744
HP:0002751HP:0004619Lumbar kyphoscoliosis1EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM12233518605744
HP:0002751HP:0004619Lumbar kyphoscoliosis1EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM11183518605744
HP:0002751HP:0008453Congenital kyphoscoliosis1FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM154573603134797
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM154573603134797
HP:0002751HP:0008453Congenital kyphoscoliosis1FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM149683603134797
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM149683603134797
HP:0002751HP:0004619Lumbar kyphoscoliosis1FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM154573603134797
HP:0002751HP:0004619Lumbar kyphoscoliosis1FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM149683603134797
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM124118169607063
HP:0002751HP:0008453Congenital kyphoscoliosis1FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM124118169607063
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM119218169607063
HP:0002751HP:0008453Congenital kyphoscoliosis1FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM119218169607063
HP:0002751HP:0004619Lumbar kyphoscoliosis1FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM124118169607063
HP:0002751HP:0004619Lumbar kyphoscoliosis1FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM119218169607063
HP:0002751HP:0004619Lumbar kyphoscoliosis1FKBP14 CL E G H55033300179ORPHA111818625614505
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1FKBP14 CL E G H55033300179ORPHA114418625614505
HP:0002751HP:0008453Congenital kyphoscoliosis1FKBP14 CL E G H55033300179ORPHA114418625614505
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1FKBP14 CL E G H55033300179ORPHA111818625614505
HP:0002751HP:0008453Congenital kyphoscoliosis1FKBP14 CL E G H55033300179ORPHA111818625614505
HP:0002751HP:0004619Lumbar kyphoscoliosis1FKBP14 CL E G H55033300179ORPHA114418625614505
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM114418625614505
HP:0002751HP:0008453Congenital kyphoscoliosis1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM114418625614505
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM111818625614505
HP:0002751HP:0008453Congenital kyphoscoliosis1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM111818625614505
HP:0002751HP:0004619Lumbar kyphoscoliosis1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM114418625614505
HP:0002751HP:0004619Lumbar kyphoscoliosis1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM111818625614505
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM121303754300017
HP:0002751HP:0008453Congenital kyphoscoliosis1FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM121303754300017
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM118933754300017
HP:0002751HP:0008453Congenital kyphoscoliosis1FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM118933754300017
HP:0002751HP:0004619Lumbar kyphoscoliosis1FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM121303754300017
HP:0002751HP:0004619Lumbar kyphoscoliosis1FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM118933754300017
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM144415968606598
HP:0002751HP:0008453Congenital kyphoscoliosis1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM144415968606598
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM142315968606598
HP:0002751HP:0008453Congenital kyphoscoliosis1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM142315968606598
HP:0002751HP:0004619Lumbar kyphoscoliosis1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM144415968606598
HP:0002751HP:0004619Lumbar kyphoscoliosis1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM142315968606598
HP:0002751HP:0008453Congenital kyphoscoliosis1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM144415968606598
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM144415968606598
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM142315968606598
HP:0002751HP:0008453Congenital kyphoscoliosis1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM142315968606598
HP:0002751HP:0004619Lumbar kyphoscoliosis1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM144415968606598
HP:0002751HP:0004619Lumbar kyphoscoliosis1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM142315968606598
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM117425676607983
HP:0002751HP:0008453Congenital kyphoscoliosis1GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM117425676607983
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM113025676607983
HP:0002751HP:0008453Congenital kyphoscoliosis1GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM113025676607983
HP:0002751HP:0004619Lumbar kyphoscoliosis1GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM117425676607983
HP:0002751HP:0004619Lumbar kyphoscoliosis1GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM113025676607983
HP:0002751HP:0008453Congenital kyphoscoliosis1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM169826527610453
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM169826527610453
HP:0002751HP:0008453Congenital kyphoscoliosis1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM159426527610453
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM159426527610453
HP:0002751HP:0004619Lumbar kyphoscoliosis1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM169826527610453
HP:0002751HP:0004619Lumbar kyphoscoliosis1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM159426527610453
HP:0002751HP:0004619Lumbar kyphoscoliosis1HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0002751HP:0008453Congenital kyphoscoliosis1HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM14675173190020
HP:0002751HP:0008453Congenital kyphoscoliosis1HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM14675173190020
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM14115173190020
HP:0002751HP:0008453Congenital kyphoscoliosis1HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM14115173190020
HP:0002751HP:0004619Lumbar kyphoscoliosis1HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM14675173190020
HP:0002751HP:0004619Lumbar kyphoscoliosis1HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM14115173190020
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0002751HP:0008453Congenital kyphoscoliosis1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0002751HP:0008453Congenital kyphoscoliosis1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0002751HP:0004619Lumbar kyphoscoliosis1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0002751HP:0004619Lumbar kyphoscoliosis1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0002751HP:0008453Congenital kyphoscoliosis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13375961300248
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13375961300248
HP:0002751HP:0008453Congenital kyphoscoliosis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13265961300248
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13265961300248
HP:0002751HP:0004619Lumbar kyphoscoliosis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13375961300248
HP:0002751HP:0004619Lumbar kyphoscoliosis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13265961300248
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM13814201605266
HP:0002751HP:0008453Congenital kyphoscoliosis1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM13814201605266
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM13714201605266
HP:0002751HP:0008453Congenital kyphoscoliosis1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM13714201605266
HP:0002751HP:0004619Lumbar kyphoscoliosis1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM13814201605266
HP:0002751HP:0004619Lumbar kyphoscoliosis1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM13714201605266
HP:0002751HP:0008453Congenital kyphoscoliosis1KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM13416407190070
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM13416407190070
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM13316407190070
HP:0002751HP:0008453Congenital kyphoscoliosis1KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM13316407190070
HP:0002751HP:0004619Lumbar kyphoscoliosis1KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM13416407190070
HP:0002751HP:0004619Lumbar kyphoscoliosis1KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM13316407190070
HP:0002751HP:0004619Lumbar kyphoscoliosis1KY CL E G H339855496689ORPHA17826576605739
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1KY CL E G H339855496689ORPHA17926576605739
HP:0002751HP:0008453Congenital kyphoscoliosis1KY CL E G H339855496689ORPHA17926576605739
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1KY CL E G H339855496689ORPHA17826576605739
HP:0002751HP:0008453Congenital kyphoscoliosis1KY CL E G H339855496689ORPHA17826576605739
HP:0002751HP:0004619Lumbar kyphoscoliosis1KY CL E G H339855496689ORPHA17926576605739
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM127396482156225
HP:0002751HP:0008453Congenital kyphoscoliosis1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM127396482156225
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM123276482156225
HP:0002751HP:0008453Congenital kyphoscoliosis1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM123276482156225
HP:0002751HP:0004619Lumbar kyphoscoliosis1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM127396482156225
HP:0002751HP:0004619Lumbar kyphoscoliosis1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM123276482156225
HP:0002751HP:0008453Congenital kyphoscoliosis1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM114866636150330
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM114866636150330
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM113476636150330
HP:0002751HP:0008453Congenital kyphoscoliosis1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM113476636150330
HP:0002751HP:0004619Lumbar kyphoscoliosis1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM114866636150330
HP:0002751HP:0004619Lumbar kyphoscoliosis1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM113476636150330
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM114866636150330
HP:0002751HP:0008453Congenital kyphoscoliosis1LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM114866636150330
HP:0002751HP:0008453Congenital kyphoscoliosis1LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM113476636150330
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM113476636150330
HP:0002751HP:0004619Lumbar kyphoscoliosis1LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM114866636150330
HP:0002751HP:0004619Lumbar kyphoscoliosis1LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM113476636150330
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM111276697603506
HP:0002751HP:0008453Congenital kyphoscoliosis1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM111276697603506
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM18616697603506
HP:0002751HP:0008453Congenital kyphoscoliosis1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM18616697603506
HP:0002751HP:0004619Lumbar kyphoscoliosis1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM111276697603506
HP:0002751HP:0004619Lumbar kyphoscoliosis1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM18616697603506
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13366840176872
HP:0002751HP:0008453Congenital kyphoscoliosis1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13366840176872
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13066840176872
HP:0002751HP:0008453Congenital kyphoscoliosis1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13066840176872
HP:0002751HP:0004619Lumbar kyphoscoliosis1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13366840176872
HP:0002751HP:0004619Lumbar kyphoscoliosis1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13066840176872
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM14886893157140
HP:0002751HP:0008453Congenital kyphoscoliosis1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM14886893157140
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM14656893157140
HP:0002751HP:0008453Congenital kyphoscoliosis1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM14656893157140
HP:0002751HP:0004619Lumbar kyphoscoliosis1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM14886893157140
HP:0002751HP:0004619Lumbar kyphoscoliosis1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM14656893157140
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM128529659605195
HP:0002751HP:0008453Congenital kyphoscoliosis1MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM128529659605195
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM125729659605195
HP:0002751HP:0008453Congenital kyphoscoliosis1MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM125729659605195
HP:0002751HP:0004619Lumbar kyphoscoliosis1MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM128529659605195
HP:0002751HP:0004619Lumbar kyphoscoliosis1MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM125729659605195
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120112744605678
HP:0002751HP:0008453Congenital kyphoscoliosis1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120112744605678
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120012744605678
HP:0002751HP:0008453Congenital kyphoscoliosis1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120012744605678
HP:0002751HP:0004619Lumbar kyphoscoliosis1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120112744605678
HP:0002751HP:0004619Lumbar kyphoscoliosis1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120012744605678
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0002751HP:0008453Congenital kyphoscoliosis1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0002751HP:0008453Congenital kyphoscoliosis1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0002751HP:0004619Lumbar kyphoscoliosis1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0002751HP:0004619Lumbar kyphoscoliosis1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM15227225159440
HP:0002751HP:0008453Congenital kyphoscoliosis1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM15227225159440
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM14937225159440
HP:0002751HP:0008453Congenital kyphoscoliosis1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM14937225159440
HP:0002751HP:0004619Lumbar kyphoscoliosis1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM15227225159440
HP:0002751HP:0004619Lumbar kyphoscoliosis1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM14937225159440
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15227225159440
HP:0002751HP:0008453Congenital kyphoscoliosis1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15227225159440
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM14937225159440
HP:0002751HP:0008453Congenital kyphoscoliosis1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM14937225159440
HP:0002751HP:0004619Lumbar kyphoscoliosis1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15227225159440
HP:0002751HP:0004619Lumbar kyphoscoliosis1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM14937225159440
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15227225159440
HP:0002751HP:0008453Congenital kyphoscoliosis1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15227225159440
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM14937225159440
HP:0002751HP:0008453Congenital kyphoscoliosis1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM14937225159440
HP:0002751HP:0004619Lumbar kyphoscoliosis1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15227225159440
HP:0002751HP:0004619Lumbar kyphoscoliosis1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM14937225159440
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM15337573160720
HP:0002751HP:0008453Congenital kyphoscoliosis1MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM15337573160720
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM14447573160720
HP:0002751HP:0008453Congenital kyphoscoliosis1MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM14447573160720
HP:0002751HP:0004619Lumbar kyphoscoliosis1MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM15337573160720
HP:0002751HP:0004619Lumbar kyphoscoliosis1MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM14447573160720
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM134818704300013
HP:0002751HP:0008453Congenital kyphoscoliosis1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM134818704300013
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM133318704300013
HP:0002751HP:0008453Congenital kyphoscoliosis1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM133318704300013
HP:0002751HP:0004619Lumbar kyphoscoliosis1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM134818704300013
HP:0002751HP:0004619Lumbar kyphoscoliosis1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM133318704300013
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM16277882600275
HP:0002751HP:0008453Congenital kyphoscoliosis1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM16277882600275
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM15267882600275
HP:0002751HP:0008453Congenital kyphoscoliosis1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM15267882600275
HP:0002751HP:0004619Lumbar kyphoscoliosis1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM16277882600275
HP:0002751HP:0004619Lumbar kyphoscoliosis1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM15267882600275
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM12267989164790
HP:0002751HP:0008453Congenital kyphoscoliosis1NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM12267989164790
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM12127989164790
HP:0002751HP:0008453Congenital kyphoscoliosis1NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM12127989164790
HP:0002751HP:0004619Lumbar kyphoscoliosis1NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM12267989164790
HP:0002751HP:0004619Lumbar kyphoscoliosis1NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM12127989164790
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11888604603005
HP:0002751HP:0008453Congenital kyphoscoliosis1PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11888604603005
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11478604603005
HP:0002751HP:0008453Congenital kyphoscoliosis1PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11478604603005
HP:0002751HP:0004619Lumbar kyphoscoliosis1PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11888604603005
HP:0002751HP:0004619Lumbar kyphoscoliosis1PAPSS2 CL E G H9060612847Spondyloepimetaphyseal dysplasia, pakistani type612847C2748515OMIM11478604603005
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM13638860601757
HP:0002751HP:0008453Congenital kyphoscoliosis1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM13638860601757
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM13108860601757
HP:0002751HP:0008453Congenital kyphoscoliosis1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM13108860601757
HP:0002751HP:0004619Lumbar kyphoscoliosis1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM13638860601757
HP:0002751HP:0004619Lumbar kyphoscoliosis1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM13108860601757
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PIEZO2 CL E G H63895114300Gordon's syndrome114300C0220666OMIM170926270613629
HP:0002751HP:0008453Congenital kyphoscoliosis1PIEZO2 CL E G H63895114300Gordon's syndrome114300C0220666OMIM170926270613629
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PIEZO2 CL E G H63895114300Gordon's syndrome114300C0220666OMIM167226270613629
HP:0002751HP:0008453Congenital kyphoscoliosis1PIEZO2 CL E G H63895114300Gordon's syndrome114300C0220666OMIM167226270613629
HP:0002751HP:0004619Lumbar kyphoscoliosis1PIEZO2 CL E G H63895114300Gordon's syndrome114300C0220666OMIM170926270613629
HP:0002751HP:0004619Lumbar kyphoscoliosis1PIEZO2 CL E G H63895114300Gordon's syndrome114300C0220666OMIM167226270613629
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14199118601097
HP:0002751HP:0008453Congenital kyphoscoliosis1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14199118601097
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM13909118601097
HP:0002751HP:0008453Congenital kyphoscoliosis1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM13909118601097
HP:0002751HP:0004619Lumbar kyphoscoliosis1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14199118601097
HP:0002751HP:0004619Lumbar kyphoscoliosis1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM13909118601097
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14199118601097
HP:0002751HP:0008453Congenital kyphoscoliosis1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14199118601097
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM13909118601097
HP:0002751HP:0008453Congenital kyphoscoliosis1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM13909118601097
HP:0002751HP:0004619Lumbar kyphoscoliosis1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14199118601097
HP:0002751HP:0004619Lumbar kyphoscoliosis1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM13909118601097
HP:0002751HP:0008453Congenital kyphoscoliosis1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14199118601097
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14199118601097
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM13909118601097
HP:0002751HP:0008453Congenital kyphoscoliosis1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM13909118601097
HP:0002751HP:0004619Lumbar kyphoscoliosis1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14199118601097
HP:0002751HP:0004619Lumbar kyphoscoliosis1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM13909118601097
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13714951613257
HP:0002751HP:0008453Congenital kyphoscoliosis1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13714951613257
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13514951613257
HP:0002751HP:0008453Congenital kyphoscoliosis1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13514951613257
HP:0002751HP:0004619Lumbar kyphoscoliosis1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13714951613257
HP:0002751HP:0004619Lumbar kyphoscoliosis1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13514951613257
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM197213797605725
HP:0002751HP:0008453Congenital kyphoscoliosis1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM197213797605725
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM186113797605725
HP:0002751HP:0008453Congenital kyphoscoliosis1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM186113797605725
HP:0002751HP:0004619Lumbar kyphoscoliosis1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM197213797605725
HP:0002751HP:0004619Lumbar kyphoscoliosis1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM186113797605725
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM129889585601309
HP:0002751HP:0008453Congenital kyphoscoliosis1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM129889585601309
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM126289585601309
HP:0002751HP:0008453Congenital kyphoscoliosis1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM126289585601309
HP:0002751HP:0004619Lumbar kyphoscoliosis1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM129889585601309
HP:0002751HP:0004619Lumbar kyphoscoliosis1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM126289585601309
HP:0002751HP:0008453Congenital kyphoscoliosis1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM15419586603673
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM15419586603673
HP:0002751HP:0008453Congenital kyphoscoliosis1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM14269586603673
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM14269586603673
HP:0002751HP:0004619Lumbar kyphoscoliosis1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM15419586603673
HP:0002751HP:0004619Lumbar kyphoscoliosis1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM14269586603673
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM16299644176876
HP:0002751HP:0008453Congenital kyphoscoliosis1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM16299644176876
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM15659644176876
HP:0002751HP:0008453Congenital kyphoscoliosis1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM15659644176876
HP:0002751HP:0004619Lumbar kyphoscoliosis1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM16299644176876
HP:0002751HP:0004619Lumbar kyphoscoliosis1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM15659644176876
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM16299644176876
HP:0002751HP:0008453Congenital kyphoscoliosis1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM16299644176876
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM15659644176876
HP:0002751HP:0008453Congenital kyphoscoliosis1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM15659644176876
HP:0002751HP:0004619Lumbar kyphoscoliosis1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM16299644176876
HP:0002751HP:0004619Lumbar kyphoscoliosis1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM15659644176876
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM117514244602207
HP:0002751HP:0008453Congenital kyphoscoliosis1RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM117514244602207
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM117014244602207
HP:0002751HP:0008453Congenital kyphoscoliosis1RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM117014244602207
HP:0002751HP:0004619Lumbar kyphoscoliosis1RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM117514244602207
HP:0002751HP:0004619Lumbar kyphoscoliosis1RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM117014244602207
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM129017063602536
HP:0002751HP:0008453Congenital kyphoscoliosis1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM129017063602536
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM127017063602536
HP:0002751HP:0008453Congenital kyphoscoliosis1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM127017063602536
HP:0002751HP:0004619Lumbar kyphoscoliosis1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM129017063602536
HP:0002751HP:0004619Lumbar kyphoscoliosis1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM127017063602536
HP:0002751HP:0004619Lumbar kyphoscoliosis1RBM28 CL E G H55131612079Alopecia, neurologic defects, and endocrinopathy syndrome612079C2677535OMIM15121863612074
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1RBM28 CL E G H55131612079Alopecia, neurologic defects, and endocrinopathy syndrome612079C2677535OMIM15121863612074
HP:0002751HP:0008453Congenital kyphoscoliosis1RBM28 CL E G H55131612079Alopecia, neurologic defects, and endocrinopathy syndrome612079C2677535OMIM15121863612074
HP:0002751HP:0008453Congenital kyphoscoliosis1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM132749949603780
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM132749949603780
HP:0002751HP:0008453Congenital kyphoscoliosis1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM127519949603780
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM127519949603780
HP:0002751HP:0004619Lumbar kyphoscoliosis1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM132749949603780
HP:0002751HP:0004619Lumbar kyphoscoliosis1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM127519949603780
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM140410432300075
HP:0002751HP:0008453Congenital kyphoscoliosis1RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM140410432300075
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM138310432300075
HP:0002751HP:0008453Congenital kyphoscoliosis1RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM138310432300075
HP:0002751HP:0004619Lumbar kyphoscoliosis1RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM140410432300075
HP:0002751HP:0004619Lumbar kyphoscoliosis1RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM138310432300075
HP:0002751HP:0008453Congenital kyphoscoliosis1RYR1 CL E G H6261597ORPHA1460410483180901
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1RYR1 CL E G H6261597ORPHA1460410483180901
HP:0002751HP:0008453Congenital kyphoscoliosis1RYR1 CL E G H6261597ORPHA1410110483180901
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1RYR1 CL E G H6261597ORPHA1410110483180901
HP:0002751HP:0004619Lumbar kyphoscoliosis1RYR1 CL E G H6261597ORPHA1460410483180901
HP:0002751HP:0004619Lumbar kyphoscoliosis1RYR1 CL E G H6261597ORPHA1410110483180901
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1RYR1 CL E G H6261117000117000117000OMIM1460410483180901
HP:0002751HP:0008453Congenital kyphoscoliosis1RYR1 CL E G H6261117000117000117000OMIM1460410483180901
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1RYR1 CL E G H6261117000117000117000OMIM1410110483180901
HP:0002751HP:0008453Congenital kyphoscoliosis1RYR1 CL E G H6261117000117000117000OMIM1410110483180901
HP:0002751HP:0004619Lumbar kyphoscoliosis1RYR1 CL E G H6261117000117000117000OMIM1460410483180901
HP:0002751HP:0004619Lumbar kyphoscoliosis1RYR1 CL E G H6261117000117000117000OMIM1410110483180901
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM110802135607697
HP:0002751HP:0008453Congenital kyphoscoliosis1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM110802135607697
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM19632135607697
HP:0002751HP:0008453Congenital kyphoscoliosis1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM19632135607697
HP:0002751HP:0004619Lumbar kyphoscoliosis1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM110802135607697
HP:0002751HP:0004619Lumbar kyphoscoliosis1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM19632135607697
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM113310940600300
HP:0002751HP:0008453Congenital kyphoscoliosis1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM113310940600300
HP:0002751HP:0008453Congenital kyphoscoliosis1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM17210940600300
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM17210940600300
HP:0002751HP:0004619Lumbar kyphoscoliosis1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM113310940600300
HP:0002751HP:0004619Lumbar kyphoscoliosis1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM17210940600300
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1SLC26A2 CL E G H1836222600Diastrophic dysplasia222600C0220726OMIM149210994606718
HP:0002751HP:0008453Congenital kyphoscoliosis1SLC26A2 CL E G H1836222600Diastrophic dysplasia222600C0220726OMIM149210994606718
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1SLC26A2 CL E G H1836222600Diastrophic dysplasia222600C0220726OMIM143210994606718
HP:0002751HP:0008453Congenital kyphoscoliosis1SLC26A2 CL E G H1836222600Diastrophic dysplasia222600C0220726OMIM143210994606718
HP:0002751HP:0004619Lumbar kyphoscoliosis1SLC26A2 CL E G H1836222600Diastrophic dysplasia222600C0220726OMIM149210994606718
HP:0002751HP:0004619Lumbar kyphoscoliosis1SLC26A2 CL E G H1836222600Diastrophic dysplasia222600C0220726OMIM143210994606718
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM125611123300105
HP:0002751HP:0008453Congenital kyphoscoliosis1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM125611123300105
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM124411123300105
HP:0002751HP:0008453Congenital kyphoscoliosis1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM124411123300105
HP:0002751HP:0004619Lumbar kyphoscoliosis1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM125611123300105
HP:0002751HP:0004619Lumbar kyphoscoliosis1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM124411123300105
HP:0002751HP:0008453Congenital kyphoscoliosis1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM124211204608160
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM124211204608160
HP:0002751HP:0003423Thoracolumbar kyphoscoliosis1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM121111204608160
HP:0002751HP:0008453Congenital kyphoscoliosis1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM121111204608160
HP:0002751HP:0004619Lumbar kyphoscoliosis1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM124211204608160
HP:0002751HP:0004619Lumbar kyphoscoliosis1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM121111204608160
HP:0002751