Human Phenotype Ontology 
Grandparent Node:
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Abnormal vertebral morphology (HP:0003468)help
Parent Node:
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Synostosis of joints (HP:0100240)help
Parent Node:
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Vertebral segmentation defect (HP:0003422)help
..Starting node
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Vertebral fusion (HP:0002948)help
Term ID: 2948
Name: Vertebral fusion
Synonym: Fused vertebrae; Fusion of vertebral bodies; Spinal fusion; Vertebral body fusion
Definition: A developmental defect leading to the union of two adjacent vertebrae.
Comments:
Reference: HP:0002948
Genes and Diseases:
 
       Child Nodes:
........expandFused cervical vertebrae (HP:0002949) help
................... HP:0004575 Fusion of midcervical facet joints
................... HP:0004602 Cervical C2/C3 vertebral fusion
................... HP:0004635 Cervical C5/C6 vertebrae fusion
................... HP:0008449 Progressive cervical vertebral spine fusion
................... HP:0030281 Cervical C3/C4 vertebral fusion
........expandBlock vertebrae (HP:0003305) help
........expandAnterior vertebral fusion (HP:0004557) help
........expandPosterior fusion of lumbosacral vertebrae (HP:0005626) help
........expandAbnormal vertebral segmentation and fusion (HP:0005640) help
........expandFused thoracic vertebrae (HP:0030039) help
........expandFused lumbar vertebrae (HP:0030040) help
........expandSacralization of the fifth lumbar vertebra (HP:0030125) help

 Sister Nodes: 
..expandCervical segmentation defect (HP:0004632) help
..expandHemivertebrae (HP:0002937) help
..expandSacral segmentation defect (HP:0008490) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002948HP:0002948Vertebral fusion0ANKRD11 CL E G H291232332ORPHA1151521316611192
HP:0002948HP:0002948Vertebral fusion0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1151521316611192
HP:0002948HP:0002948Vertebral fusion0CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13981955100690
HP:0002948HP:0002948Vertebral fusion0CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM14081965100720
HP:0002948HP:0002948Vertebral fusion0CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12201967100730
HP:0002948HP:0002948Vertebral fusion0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002948HP:0002948Vertebral fusion0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002948HP:0002948Vertebral fusion0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002948HP:0002948Vertebral fusion0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002948HP:0002948Vertebral fusion0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002948HP:0002948Vertebral fusion0GDF5 CL E G H8200610017Multiple synostoses syndrome 2610017C1832708OMIM11754220601146
HP:0002948HP:0002948Vertebral fusion0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA18554451300037
HP:0002948HP:0002948Vertebral fusion0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12144452300168
HP:0002948HP:0002948Vertebral fusion0HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002948HP:0002948Vertebral fusion0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002948HP:0002948Vertebral fusion0MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM16417573160720
HP:0002948HP:0002948Vertebral fusion0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002948HP:0002948Vertebral fusion0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002948HP:0002948Vertebral fusion0PTCH1 CL E G H5727377ORPHA138489585601309
HP:0002948HP:0002948Vertebral fusion0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM138489585601309
HP:0002948HP:0002948Vertebral fusion0PTCH2 CL E G H8643377ORPHA16179586603673
HP:0002948HP:0002948Vertebral fusion0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM16179586603673
HP:0002948HP:0002948Vertebral fusion0PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM119017042604819
HP:0002948HP:0002948Vertebral fusion0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM147410257602337
HP:0002948HP:0002948Vertebral fusion0ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM147410257602337
HP:0002948HP:0002948Vertebral fusion0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM17810892606326
HP:0002948HP:0002948Vertebral fusion0SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM117396770600993
HP:0002948HP:0002948Vertebral fusion0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM117411195184429
HP:0002948HP:0002948Vertebral fusion0SOX5 CL E G H6660313892ORPHA120511201604975
HP:0002948HP:0002948Vertebral fusion0SUFU CL E G H51684377ORPHA1111416466607035
HP:0002948HP:0002948Vertebral fusion0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1111416466607035
HP:0002948HP:0002948Vertebral fusion0TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM139411605602427
HP:0002948HP:0002948Vertebral fusion0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1ANKRD11 CL E G H291232332ORPHA1151521316611192
HP:0002948HP:0002949Fused cervical vertebrae1ANKRD11 CL E G H291232332ORPHA1151521316611192
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1ANKRD11 CL E G H291232332ORPHA1151521316611192
HP:0002948HP:0030039Fused thoracic vertebrae1ANKRD11 CL E G H291232332ORPHA1151521316611192
HP:0002948HP:0003305Block vertebrae1ANKRD11 CL E G H291232332ORPHA1151521316611192
HP:0002948HP:0030040Fused lumbar vertebrae1ANKRD11 CL E G H291232332ORPHA1151521316611192
HP:0002948HP:0004557Anterior vertebral fusion1ANKRD11 CL E G H291232332ORPHA1151521316611192
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1ANKRD11 CL E G H291232332ORPHA1151521316611192
HP:0002948HP:0002949Fused cervical vertebrae1ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1151521316611192
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1151521316611192
HP:0002948HP:0003305Block vertebrae1ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1151521316611192
HP:0002948HP:0030039Fused thoracic vertebrae1ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1151521316611192
HP:0002948HP:0004557Anterior vertebral fusion1ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1151521316611192
HP:0002948HP:0030040Fused lumbar vertebrae1ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1151521316611192
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1151521316611192
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1151521316611192
HP:0002948HP:0030040Fused lumbar vertebrae1CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13981955100690
HP:0002948HP:0004557Anterior vertebral fusion1CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13981955100690
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13981955100690
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13981955100690
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13981955100690
HP:0002948HP:0002949Fused cervical vertebrae1CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13981955100690
HP:0002948HP:0030039Fused thoracic vertebrae1CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13981955100690
HP:0002948HP:0003305Block vertebrae1CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13981955100690
HP:0002948HP:0002949Fused cervical vertebrae1CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM14081965100720
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM14081965100720
HP:0002948HP:0003305Block vertebrae1CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM14081965100720
HP:0002948HP:0030039Fused thoracic vertebrae1CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM14081965100720
HP:0002948HP:0004557Anterior vertebral fusion1CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM14081965100720
HP:0002948HP:0030040Fused lumbar vertebrae1CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM14081965100720
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM14081965100720
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM14081965100720
HP:0002948HP:0004557Anterior vertebral fusion1CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12201967100730
HP:0002948HP:0030040Fused lumbar vertebrae1CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12201967100730
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12201967100730
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12201967100730
HP:0002948HP:0002949Fused cervical vertebrae1CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12201967100730
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12201967100730
HP:0002948HP:0003305Block vertebrae1CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12201967100730
HP:0002948HP:0030039Fused thoracic vertebrae1CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12201967100730
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002948HP:0002949Fused cervical vertebrae1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002948HP:0030039Fused thoracic vertebrae1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002948HP:0003305Block vertebrae1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002948HP:0030040Fused lumbar vertebrae1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002948HP:0004557Anterior vertebral fusion1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002948HP:0030040Fused lumbar vertebrae1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002948HP:0004557Anterior vertebral fusion1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002948HP:0002949Fused cervical vertebrae1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002948HP:0030039Fused thoracic vertebrae1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002948HP:0003305Block vertebrae1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002948HP:0002949Fused cervical vertebrae1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002948HP:0003305Block vertebrae1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002948HP:0030039Fused thoracic vertebrae1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002948HP:0004557Anterior vertebral fusion1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002948HP:0030040Fused lumbar vertebrae1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002948HP:0030040Fused lumbar vertebrae1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002948HP:0004557Anterior vertebral fusion1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002948HP:0002949Fused cervical vertebrae1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002948HP:0030039Fused thoracic vertebrae1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002948HP:0003305Block vertebrae1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002948HP:0002949Fused cervical vertebrae1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002948HP:0003305Block vertebrae1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002948HP:0030039Fused thoracic vertebrae1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002948HP:0004557Anterior vertebral fusion1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002948HP:0030040Fused lumbar vertebrae1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002948HP:0004557Anterior vertebral fusion1GDF5 CL E G H8200610017Multiple synostoses syndrome 2610017C1832708OMIM11754220601146
HP:0002948HP:0030040Fused lumbar vertebrae1GDF5 CL E G H8200610017Multiple synostoses syndrome 2610017C1832708OMIM11754220601146
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1GDF5 CL E G H8200610017Multiple synostoses syndrome 2610017C1832708OMIM11754220601146
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1GDF5 CL E G H8200610017Multiple synostoses syndrome 2610017C1832708OMIM11754220601146
HP:0002948HP:0002949Fused cervical vertebrae1GDF5 CL E G H8200610017Multiple synostoses syndrome 2610017C1832708OMIM11754220601146
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1GDF5 CL E G H8200610017Multiple synostoses syndrome 2610017C1832708OMIM11754220601146
HP:0002948HP:0003305Block vertebrae1GDF5 CL E G H8200610017Multiple synostoses syndrome 2610017C1832708OMIM11754220601146
HP:0002948HP:0030039Fused thoracic vertebrae1GDF5 CL E G H8200610017Multiple synostoses syndrome 2610017C1832708OMIM11754220601146
HP:0002948HP:0002949Fused cervical vertebrae1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA18554451300037
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA18554451300037
HP:0002948HP:0003305Block vertebrae1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA18554451300037
HP:0002948HP:0030039Fused thoracic vertebrae1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA18554451300037
HP:0002948HP:0004557Anterior vertebral fusion1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA18554451300037
HP:0002948HP:0030040Fused lumbar vertebrae1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA18554451300037
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA18554451300037
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA18554451300037
HP:0002948HP:0004557Anterior vertebral fusion1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12144452300168
HP:0002948HP:0030040Fused lumbar vertebrae1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12144452300168
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12144452300168
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12144452300168
HP:0002948HP:0002949Fused cervical vertebrae1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12144452300168
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12144452300168
HP:0002948HP:0003305Block vertebrae1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12144452300168
HP:0002948HP:0030039Fused thoracic vertebrae1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12144452300168
HP:0002948HP:0002949Fused cervical vertebrae1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002948HP:0003305Block vertebrae1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002948HP:0030039Fused thoracic vertebrae1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002948HP:0004557Anterior vertebral fusion1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002948HP:0030040Fused lumbar vertebrae1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002948HP:0004557Anterior vertebral fusion1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002948HP:0030040Fused lumbar vertebrae1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002948HP:0002949Fused cervical vertebrae1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002948HP:0003305Block vertebrae1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002948HP:0030039Fused thoracic vertebrae1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002948HP:0004557Anterior vertebral fusion1MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM16417573160720
HP:0002948HP:0030040Fused lumbar vertebrae1MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM16417573160720
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM16417573160720
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM16417573160720
HP:0002948HP:0002949Fused cervical vertebrae1MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM16417573160720
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM16417573160720
HP:0002948HP:0003305Block vertebrae1MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM16417573160720
HP:0002948HP:0030039Fused thoracic vertebrae1MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM16417573160720
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002948HP:0002949Fused cervical vertebrae1NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002948HP:0030039Fused thoracic vertebrae1NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002948HP:0003305Block vertebrae1NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002948HP:0030040Fused lumbar vertebrae1NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002948HP:0004557Anterior vertebral fusion1NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002948HP:0002949Fused cervical vertebrae1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002948HP:0030039Fused thoracic vertebrae1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002948HP:0003305Block vertebrae1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002948HP:0030040Fused lumbar vertebrae1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002948HP:0004557Anterior vertebral fusion1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1PTCH1 CL E G H5727377ORPHA138489585601309
HP:0002948HP:0002949Fused cervical vertebrae1PTCH1 CL E G H5727377ORPHA138489585601309
HP:0002948HP:0030039Fused thoracic vertebrae1PTCH1 CL E G H5727377ORPHA138489585601309
HP:0002948HP:0003305Block vertebrae1PTCH1 CL E G H5727377ORPHA138489585601309
HP:0002948HP:0030040Fused lumbar vertebrae1PTCH1 CL E G H5727377ORPHA138489585601309
HP:0002948HP:0004557Anterior vertebral fusion1PTCH1 CL E G H5727377ORPHA138489585601309
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1PTCH1 CL E G H5727377ORPHA138489585601309
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1PTCH1 CL E G H5727377ORPHA138489585601309
HP:0002948HP:0004557Anterior vertebral fusion1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM138489585601309
HP:0002948HP:0030040Fused lumbar vertebrae1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM138489585601309
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM138489585601309
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM138489585601309
HP:0002948HP:0002949Fused cervical vertebrae1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM138489585601309
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM138489585601309
HP:0002948HP:0003305Block vertebrae1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM138489585601309
HP:0002948HP:0030039Fused thoracic vertebrae1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM138489585601309
HP:0002948HP:0030040Fused lumbar vertebrae1PTCH2 CL E G H8643377ORPHA16179586603673
HP:0002948HP:0004557Anterior vertebral fusion1PTCH2 CL E G H8643377ORPHA16179586603673
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1PTCH2 CL E G H8643377ORPHA16179586603673
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1PTCH2 CL E G H8643377ORPHA16179586603673
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1PTCH2 CL E G H8643377ORPHA16179586603673
HP:0002948HP:0002949Fused cervical vertebrae1PTCH2 CL E G H8643377ORPHA16179586603673
HP:0002948HP:0030039Fused thoracic vertebrae1PTCH2 CL E G H8643377ORPHA16179586603673
HP:0002948HP:0003305Block vertebrae1PTCH2 CL E G H8643377ORPHA16179586603673
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM16179586603673
HP:0002948HP:0002949Fused cervical vertebrae1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM16179586603673
HP:0002948HP:0030039Fused thoracic vertebrae1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM16179586603673
HP:0002948HP:0003305Block vertebrae1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM16179586603673
HP:0002948HP:0030040Fused lumbar vertebrae1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM16179586603673
HP:0002948HP:0004557Anterior vertebral fusion1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM16179586603673
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM16179586603673
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM16179586603673
HP:0002948HP:0030040Fused lumbar vertebrae1PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM119017042604819
HP:0002948HP:0004557Anterior vertebral fusion1PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM119017042604819
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM119017042604819
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM119017042604819
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM119017042604819
HP:0002948HP:0002949Fused cervical vertebrae1PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM119017042604819
HP:0002948HP:0030039Fused thoracic vertebrae1PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM119017042604819
HP:0002948HP:0003305Block vertebrae1PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM119017042604819
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM147410257602337
HP:0002948HP:0002949Fused cervical vertebrae1ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM147410257602337
HP:0002948HP:0030039Fused thoracic vertebrae1ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM147410257602337
HP:0002948HP:0003305Block vertebrae1ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM147410257602337
HP:0002948HP:0030040Fused lumbar vertebrae1ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM147410257602337
HP:0002948HP:0004557Anterior vertebral fusion1ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM147410257602337
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM147410257602337
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM147410257602337
HP:0002948HP:0002949Fused cervical vertebrae1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM147410257602337
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM147410257602337
HP:0002948HP:0003305Block vertebrae1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM147410257602337
HP:0002948HP:0030039Fused thoracic vertebrae1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM147410257602337
HP:0002948HP:0004557Anterior vertebral fusion1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM147410257602337
HP:0002948HP:0030040Fused lumbar vertebrae1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM147410257602337
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM147410257602337
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM147410257602337
HP:0002948HP:0004557Anterior vertebral fusion1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM17810892606326
HP:0002948HP:0030040Fused lumbar vertebrae1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM17810892606326
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM17810892606326
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM17810892606326
HP:0002948HP:0002949Fused cervical vertebrae1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM17810892606326
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM17810892606326
HP:0002948HP:0003305Block vertebrae1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM17810892606326
HP:0002948HP:0030039Fused thoracic vertebrae1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM17810892606326
HP:0002948HP:0030040Fused lumbar vertebrae1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM117396770600993
HP:0002948HP:0004557Anterior vertebral fusion1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM117396770600993
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM117396770600993
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM117396770600993
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM117396770600993
HP:0002948HP:0002949Fused cervical vertebrae1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM117396770600993
HP:0002948HP:0030039Fused thoracic vertebrae1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM117396770600993
HP:0002948HP:0003305Block vertebrae1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM117396770600993
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM117411195184429
HP:0002948HP:0002949Fused cervical vertebrae1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM117411195184429
HP:0002948HP:0030039Fused thoracic vertebrae1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM117411195184429
HP:0002948HP:0003305Block vertebrae1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM117411195184429
HP:0002948HP:0030040Fused lumbar vertebrae1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM117411195184429
HP:0002948HP:0004557Anterior vertebral fusion1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM117411195184429
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM117411195184429
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM117411195184429
HP:0002948HP:0030039Fused thoracic vertebrae1SOX5 CL E G H6660313892ORPHA120511201604975
HP:0002948HP:0003305Block vertebrae1SOX5 CL E G H6660313892ORPHA120511201604975
HP:0002948HP:0030040Fused lumbar vertebrae1SOX5 CL E G H6660313892ORPHA120511201604975
HP:0002948HP:0004557Anterior vertebral fusion1SOX5 CL E G H6660313892ORPHA120511201604975
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1SOX5 CL E G H6660313892ORPHA120511201604975
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1SOX5 CL E G H6660313892ORPHA120511201604975
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1SOX5 CL E G H6660313892ORPHA120511201604975
HP:0002948HP:0002949Fused cervical vertebrae1SOX5 CL E G H6660313892ORPHA120511201604975
HP:0002948HP:0002949Fused cervical vertebrae1SUFU CL E G H51684377ORPHA1111416466607035
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1SUFU CL E G H51684377ORPHA1111416466607035
HP:0002948HP:0003305Block vertebrae1SUFU CL E G H51684377ORPHA1111416466607035
HP:0002948HP:0030039Fused thoracic vertebrae1SUFU CL E G H51684377ORPHA1111416466607035
HP:0002948HP:0004557Anterior vertebral fusion1SUFU CL E G H51684377ORPHA1111416466607035
HP:0002948HP:0030040Fused lumbar vertebrae1SUFU CL E G H51684377ORPHA1111416466607035
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1SUFU CL E G H51684377ORPHA1111416466607035
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1SUFU CL E G H51684377ORPHA1111416466607035
HP:0002948HP:0004557Anterior vertebral fusion1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1111416466607035
HP:0002948HP:0030040Fused lumbar vertebrae1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1111416466607035
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1111416466607035
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1111416466607035
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1111416466607035
HP:0002948HP:0002949Fused cervical vertebrae1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1111416466607035
HP:0002948HP:0030039Fused thoracic vertebrae1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1111416466607035
HP:0002948HP:0003305Block vertebrae1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1111416466607035
HP:0002948HP:0004557Anterior vertebral fusion1TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM139411605602427
HP:0002948HP:0030040Fused lumbar vertebrae1TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM139411605602427
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM139411605602427
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM139411605602427
HP:0002948HP:0002949Fused cervical vertebrae1TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM139411605602427
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM139411605602427
HP:0002948HP:0003305Block vertebrae1TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM139411605602427
HP:0002948HP:0030039Fused thoracic vertebrae1TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM139411605602427
HP:0002948HP:0030040Fused lumbar vertebrae1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0002948HP:0004557Anterior vertebral fusion1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0002948HP:0002949Fused cervical vertebrae1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0002948HP:0030039Fused thoracic vertebrae1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0002948HP:0003305Block vertebrae1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0002948HP:0004575Fusion of midcervical facet joints2ANKRD11 CL E G H291232332ORPHA1151521316611192
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2ANKRD11 CL E G H291232332ORPHA1151521316611192
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2ANKRD11 CL E G H291232332ORPHA1151521316611192
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2ANKRD11 CL E G H291232332ORPHA1151521316611192
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2ANKRD11 CL E G H291232332ORPHA1151521316611192
HP:0002948HP:0004575Fusion of midcervical facet joints2ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1151521316611192
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1151521316611192
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1151521316611192
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1151521316611192
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1151521316611192
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13981955100690
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13981955100690
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13981955100690
HP:0002948HP:0004575Fusion of midcervical facet joints2CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13981955100690
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13981955100690
HP:0002948HP:0004575Fusion of midcervical facet joints2CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM14081965100720
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM14081965100720
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM14081965100720
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM14081965100720
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM14081965100720
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12201967100730
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12201967100730
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12201967100730
HP:0002948HP:0004575Fusion of midcervical facet joints2CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12201967100730
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12201967100730
HP:0002948HP:0004575Fusion of midcervical facet joints2CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002948HP:0004575Fusion of midcervical facet joints2CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0002948HP:0004575Fusion of midcervical facet joints2FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002948HP:0004575Fusion of midcervical facet joints2FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002948HP:0004575Fusion of midcervical facet joints2FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2GDF5 CL E G H8200610017Multiple synostoses syndrome 2610017C1832708OMIM11754220601146
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2GDF5 CL E G H8200610017Multiple synostoses syndrome 2610017C1832708OMIM11754220601146
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2GDF5 CL E G H8200610017Multiple synostoses syndrome 2610017C1832708OMIM11754220601146
HP:0002948HP:0004575Fusion of midcervical facet joints2GDF5 CL E G H8200610017Multiple synostoses syndrome 2610017C1832708OMIM11754220601146
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2GDF5 CL E G H8200610017Multiple synostoses syndrome 2610017C1832708OMIM11754220601146
HP:0002948HP:0004575Fusion of midcervical facet joints2GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA18554451300037
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA18554451300037
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA18554451300037
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA18554451300037
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA18554451300037
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12144452300168
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12144452300168
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12144452300168
HP:0002948HP:0004575Fusion of midcervical facet joints2GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12144452300168
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12144452300168
HP:0002948HP:0004575Fusion of midcervical facet joints2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002948HP:0004575Fusion of midcervical facet joints2LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM16417573160720
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM16417573160720
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM16417573160720
HP:0002948HP:0004575Fusion of midcervical facet joints2MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM16417573160720
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM16417573160720
HP:0002948HP:0004575Fusion of midcervical facet joints2NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0002948HP:0004575Fusion of midcervical facet joints2NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0002948HP:0004575Fusion of midcervical facet joints2PTCH1 CL E G H5727377ORPHA138489585601309
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2PTCH1 CL E G H5727377ORPHA138489585601309
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2PTCH1 CL E G H5727377ORPHA138489585601309
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2PTCH1 CL E G H5727377ORPHA138489585601309
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2PTCH1 CL E G H5727377ORPHA138489585601309
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM138489585601309
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM138489585601309
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM138489585601309
HP:0002948HP:0004575Fusion of midcervical facet joints2PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM138489585601309
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM138489585601309
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2PTCH2 CL E G H8643377ORPHA16179586603673
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2PTCH2 CL E G H8643377ORPHA16179586603673
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2PTCH2 CL E G H8643377ORPHA16179586603673
HP:0002948HP:0004575Fusion of midcervical facet joints2PTCH2 CL E G H8643377ORPHA16179586603673
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2PTCH2 CL E G H8643377ORPHA16179586603673
HP:0002948HP:0004575Fusion of midcervical facet joints2PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM16179586603673
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM16179586603673
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM16179586603673
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM16179586603673
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM16179586603673
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM119017042604819
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM119017042604819
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM119017042604819
HP:0002948HP:0004575Fusion of midcervical facet joints2PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM119017042604819
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM119017042604819
HP:0002948HP:0004575Fusion of midcervical facet joints2ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM147410257602337
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM147410257602337
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM147410257602337
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM147410257602337
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM147410257602337
HP:0002948HP:0004575Fusion of midcervical facet joints2ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM147410257602337
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM147410257602337
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM147410257602337
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM147410257602337
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM147410257602337
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM17810892606326
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM17810892606326
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM17810892606326
HP:0002948HP:0004575Fusion of midcervical facet joints2SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM17810892606326
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM17810892606326
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM117396770600993
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM117396770600993
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM117396770600993
HP:0002948HP:0004575Fusion of midcervical facet joints2SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM117396770600993
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM117396770600993
HP:0002948HP:0004575Fusion of midcervical facet joints2SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM117411195184429
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM117411195184429
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM117411195184429
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM117411195184429
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM117411195184429
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2SOX5 CL E G H6660313892ORPHA120511201604975
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2SOX5 CL E G H6660313892ORPHA120511201604975
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2SOX5 CL E G H6660313892ORPHA120511201604975
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2SOX5 CL E G H6660313892ORPHA120511201604975
HP:0002948HP:0004575Fusion of midcervical facet joints2SOX5 CL E G H6660313892ORPHA120511201604975
HP:0002948HP:0004575Fusion of midcervical facet joints2SUFU CL E G H51684377ORPHA1111416466607035
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2SUFU CL E G H51684377ORPHA1111416466607035
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2SUFU CL E G H51684377ORPHA1111416466607035
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2SUFU CL E G H51684377ORPHA1111416466607035
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2SUFU CL E G H51684377ORPHA1111416466607035
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1111416466607035
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1111416466607035
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1111416466607035
HP:0002948HP:0004575Fusion of midcervical facet joints2SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1111416466607035
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1111416466607035
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM139411605602427
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM139411605602427
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM139411605602427
HP:0002948HP:0004575Fusion of midcervical facet joints2TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM139411605602427
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM139411605602427
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0002948HP:0004575Fusion of midcervical facet joints2WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002948HP:0002948Vertebral fusion0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0121824565612452
HP:0002948HP:0002948Vertebral fusion0SALL4 CL E G H57167959ORPHA021115924607343
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0121824565612452
HP:0002948HP:0002949Fused cervical vertebrae1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0121824565612452
HP:0002948HP:0030039Fused thoracic vertebrae1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0121824565612452
HP:0002948HP:0003305Block vertebrae1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0121824565612452
HP:0002948HP:0030040Fused lumbar vertebrae1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0121824565612452
HP:0002948HP:0004557Anterior vertebral fusion1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0121824565612452
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0121824565612452
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0121824565612452
HP:0002948HP:0004557Anterior vertebral fusion1SALL4 CL E G H57167959ORPHA021115924607343
HP:0002948HP:0030040Fused lumbar vertebrae1SALL4 CL E G H57167959ORPHA021115924607343
HP:0002948HP:0005640Abnormal vertebral segmentation and fusion1SALL4 CL E G H57167959ORPHA021115924607343
HP:0002948HP:0030125Sacralization of the fifth lumbar vertebra1SALL4 CL E G H57167959ORPHA021115924607343
HP:0002948HP:0002949Fused cervical vertebrae1SALL4 CL E G H57167959ORPHA021115924607343
HP:0002948HP:0005626Posterior fusion of lumbosacral vertebrae1SALL4 CL E G H57167959ORPHA021115924607343
HP:0002948HP:0003305Block vertebrae1SALL4 CL E G H57167959ORPHA021115924607343
HP:0002948HP:0030039Fused thoracic vertebrae1SALL4 CL E G H57167959ORPHA021115924607343
HP:0002948HP:0004575Fusion of midcervical facet joints2KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0121824565612452
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0121824565612452
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0121824565612452
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0121824565612452
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0121824565612452
HP:0002948HP:0030281Cervical C3/C4 vertebral fusion2SALL4 CL E G H57167959ORPHA021115924607343
HP:0002948HP:0004602Cervical C2/C3 vertebral fusion2SALL4 CL E G H57167959ORPHA021115924607343
HP:0002948HP:0008449Progressive cervical vertebral spine fusion2SALL4 CL E G H57167959ORPHA021115924607343
HP:0002948HP:0004575Fusion of midcervical facet joints2SALL4 CL E G H57167959ORPHA021115924607343
HP:0002948HP:0004635Cervical C5/C6 vertebrae fusion2SALL4 CL E G H57167959ORPHA021115924607343


Genes (57) :ACVR1 ANKRD11 BMPER CHN1 CHRNA1 CHRND CHRNG COL25A1 CPLX1 CTBP1 DCC DKK1 DLL3 DNAL4 FANCI FGD1 FGFR2 FGFRL1 FKRP FLNA FLNB FUZ GDF3 GDF5 GDF6 GPC3 GPC4 HES7 HGD IL1RN KANSL1 LETM1 MAFB MAP3K7 MEOX1 MESP2 MYH3 MYO18B NOG NOTCH3 NSD2 NTN1 PTCH1 PTCH2 PUF60 RAD51 RBM8A ROR2 SALL4 SIX6 SMAD4 SOX2 SOX5 SUFU TBX6 VANGL1 WHCR

Diseases (53) :2332 148050 253290 194190 606612 607155 610017 373 203500 610443 178110 130720 377 109400 615583 268310 113000 959 206900 139210 313892 122600 66637 233 265000 238722 277300 609053 915 90650 90652 1826 305620 108720 272460 3027 2345 118100 613686 612852 157800 617137 214300 616549 184460 3320 274000 607323 135100 268882 87 101200 613702
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.