Human Phenotype Ontology 
Grandparent Node:
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Abnormal vertebral morphology (HP:0003468)help
Parent Node:
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Abnormal form of the vertebral bodies (HP:0003312)help
Parent Node:
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Vertebral segmentation defect (HP:0003422)help
..Starting node
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Hemivertebrae (HP:0002937)help
Term ID: 2937
Name: Hemivertebrae
Synonym: Hemi-vertebrae; Hemivertebra; Missing part of vertebrae
Definition: Absence of one half of the vertebral body.
Comments:
Reference: HP:0002937
Genes and Diseases:
 
       Child Nodes:
........expandLumbar hemivertebrae (HP:0008439) help
........expandThoracic hemivertebrae (HP:0008467) help
........expandCervical hemivertebrae (HP:0025481) help

 Sister Nodes: 
..expandCervical segmentation defect (HP:0004632) help
..expandSacral segmentation defect (HP:0008490) help
..expandVertebral fusion (HP:0002948) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002937HP:0002937Hemivertebrae0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0002937HP:0002937Hemivertebrae0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0002937HP:0002937Hemivertebrae0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM17691770603464
HP:0002937HP:0002937Hemivertebrae0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0002937HP:0002937Hemivertebrae0DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM1261262909602768
HP:0002937HP:0002937Hemivertebrae0DVL1 CL E G H18553107ORPHA1192443084601365
HP:0002937HP:0002937Hemivertebrae0DVL3 CL E G H18573107ORPHA115773087601368
HP:0002937HP:0002937Hemivertebrae0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912373133300205
HP:0002937HP:0002937Hemivertebrae0FANCB CL E G H21873412ORPHA1213523583300515
HP:0002937HP:0002937Hemivertebrae0FZD2 CL E G H25353107ORPHA17304040600667
HP:0002937HP:0002937Hemivertebrae0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA12445374319165240
HP:0002937HP:0002937Hemivertebrae0HES7 CL E G H84667613686Spondylocostal dysostosis 4, autosomal recessive613686C3150942OMIM164515977608059
HP:0002937HP:0002937Hemivertebrae0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11512955961300248
HP:0002937HP:0002937Hemivertebrae0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0002937HP:0002937Hemivertebrae0KDM6A CL E G H74032322ORPHA18131112637300128
HP:0002937HP:0002937Hemivertebrae0KMT2D CL E G H80852322ORPHA171213507133602113
HP:0002937HP:0002937Hemivertebrae0KYNU CL E G H8942617661VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2617661C4540014OMIM18416469605197
HP:0002937HP:0002937Hemivertebrae0MBTPS2 CL E G H5136085284ORPHA12620715455300294
HP:0002937HP:0002937Hemivertebrae0MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM1615429659605195
HP:0002937HP:0002937Hemivertebrae0MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM1453157573160720
HP:0002937HP:0002937Hemivertebrae0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0002937HP:0002937Hemivertebrae0POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0002937HP:0002937Hemivertebrae0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0002937HP:0002937Hemivertebrae0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0002937HP:0002937Hemivertebrae0PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM13212917042604819
HP:0002937HP:0002937Hemivertebrae0RAP1A CL E G H59062322ORPHA12209855179520
HP:0002937HP:0002937Hemivertebrae0RAP1B CL E G H59082322ORPHA11199857179530
HP:0002937HP:0002937Hemivertebrae0RIPPLY2 CL E G H134701616566Spondylocostal dysostosis 6, autosomal recessive616566C4225279OMIM133921390609891
HP:0002937HP:0002937Hemivertebrae0ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
HP:0002937HP:0002937Hemivertebrae0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1416010727608166
HP:0002937HP:0002937Hemivertebrae0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1115910892606326
HP:0002937HP:0002937Hemivertebrae0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12822411183182465
HP:0002937HP:0002937Hemivertebrae0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM110510511195184429
HP:0002937HP:0002937Hemivertebrae0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0002937HP:0002937Hemivertebrae0TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM13629611605602427
HP:0002937HP:0002937Hemivertebrae0TMCO1 CL E G H544991394ORPHA153318188614123
HP:0002937HP:0002937Hemivertebrae0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM153318188614123
HP:0002937HP:0002937Hemivertebrae0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0002937HP:0002937Hemivertebrae0WNT5A CL E G H74743107ORPHA1115812784164975
HP:0002937HP:0002937Hemivertebrae0WNT7A CL E G H7476276820Ulna and fibula absence of with severe limb deficiency276820C1848651OMIM1115012786601570
HP:0002937HP:0002937Hemivertebrae1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0002937HP:0002937Hemivertebrae1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0002937HP:0002937Hemivertebrae1CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM17691770603464
HP:0002937HP:0002937Hemivertebrae1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0002937HP:0002937Hemivertebrae1DLL3 CL E G H10683277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM1261262909602768
HP:0002937HP:0002937Hemivertebrae1DVL1 CL E G H18553107ORPHA1192443084601365
HP:0002937HP:0002937Hemivertebrae1DVL3 CL E G H18573107ORPHA115773087601368
HP:0002937HP:0002937Hemivertebrae1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912373133300205
HP:0002937HP:0002937Hemivertebrae1FANCB CL E G H21873412ORPHA1213523583300515
HP:0002937HP:0002937Hemivertebrae1FZD2 CL E G H25353107ORPHA17304040600667
HP:0002937HP:0002937Hemivertebrae1GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA12445374319165240
HP:0002937HP:0002937Hemivertebrae1HES7 CL E G H84667613686Spondylocostal dysostosis 4, autosomal recessive613686C3150942OMIM164515977608059
HP:0002937HP:0002937Hemivertebrae1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11512955961300248
HP:0002937HP:0002937Hemivertebrae1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0002937HP:0002937Hemivertebrae1KDM6A CL E G H74032322ORPHA18131112637300128
HP:0002937HP:0002937Hemivertebrae1KMT2D CL E G H80852322ORPHA171213507133602113
HP:0002937HP:0002937Hemivertebrae1KYNU CL E G H8942617661VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2617661C4540014OMIM18416469605197
HP:0002937HP:0002937Hemivertebrae1MBTPS2 CL E G H5136085284ORPHA12620715455300294
HP:0002937HP:0002937Hemivertebrae1MESP2 CL E G H145873277300Spondylocostal dysostosis 1, autosomal recessive277300CN032975OMIM1615429659605195
HP:0002937HP:0002937Hemivertebrae1MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM1453157573160720
HP:0002937HP:0002937Hemivertebrae1ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0002937HP:0002937Hemivertebrae1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0002937HP:0002937Hemivertebrae1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0002937HP:0002937Hemivertebrae1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0002937HP:0002937Hemivertebrae1PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM13212917042604819
HP:0002937HP:0002937Hemivertebrae1RAP1A CL E G H59062322ORPHA12209855179520
HP:0002937HP:0002937Hemivertebrae1RAP1B CL E G H59082322ORPHA11199857179530
HP:0002937HP:0002937Hemivertebrae1RIPPLY2 CL E G H134701616566Spondylocostal dysostosis 6, autosomal recessive616566C4225279OMIM133921390609891
HP:0002937HP:0002937Hemivertebrae1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
HP:0002937HP:0002937Hemivertebrae1SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1416010727608166
HP:0002937HP:0002937Hemivertebrae1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1115910892606326
HP:0002937HP:0002937Hemivertebrae1SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12822411183182465
HP:0002937HP:0002937Hemivertebrae1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM110510511195184429
HP:0002937HP:0002937Hemivertebrae1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0002937HP:0002937Hemivertebrae1TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM13629611605602427
HP:0002937HP:0002937Hemivertebrae1TMCO1 CL E G H544991394ORPHA153318188614123
HP:0002937HP:0002937Hemivertebrae1TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM153318188614123
HP:0002937HP:0002937Hemivertebrae1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0002937HP:0002937Hemivertebrae1WNT5A CL E G H74743107ORPHA1115812784164975
HP:0002937HP:0002937Hemivertebrae1WNT7A CL E G H7476276820Ulna and fibula absence of with severe limb deficiency276820C1848651OMIM1115012786601570
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002937HP:0002937Hemivertebrae0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA0722128909300859
HP:0002937HP:0002937Hemivertebrae0CHD7 CL E G H55636138ORPHA0884126620626608892
HP:0002937HP:0002937Hemivertebrae0GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM02445374319165240
HP:0002937HP:0002937Hemivertebrae0PTCH1 CL E G H5727377ORPHA052920319585601309
HP:0002937HP:0002937Hemivertebrae0PTCH2 CL E G H8643377ORPHA0112819586603673
HP:0002937HP:0002937Hemivertebrae0RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM0131499811606462
HP:0002937HP:0002937Hemivertebrae0SEMA3E CL E G H9723138ORPHA0416010727608166
HP:0002937HP:0002937Hemivertebrae0SH2B1 CL E G H25970261197ORPHA01616030417608937
HP:0002937HP:0002937Hemivertebrae0SON CL E G H6651500150ORPHA02822411183182465
HP:0002937HP:0002937Hemivertebrae0SOX2 CL E G H665777298ORPHA010510511195184429
HP:0002937HP:0002937Hemivertebrae0SUFU CL E G H51684377ORPHA04753316466607035
HP:0002937HP:0002937Hemivertebrae0TBC1D24 CL E G H5746579500ORPHA05656429203613577
HP:0002937HP:0002937Hemivertebrae0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA02026828984610657
HP:0002937HP:0002937Hemivertebrae1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA0722128909300859
HP:0002937HP:0002937Hemivertebrae1CHD7 CL E G H55636138ORPHA0884126620626608892
HP:0002937HP:0002937Hemivertebrae1GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM02445374319165240
HP:0002937HP:0002937Hemivertebrae1PTCH1 CL E G H5727377ORPHA052920319585601309
HP:0002937HP:0002937Hemivertebrae1PTCH2 CL E G H8643377ORPHA0112819586603673
HP:0002937HP:0002937Hemivertebrae1RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM0131499811606462
HP:0002937HP:0002937Hemivertebrae1SEMA3E CL E G H9723138ORPHA0416010727608166
HP:0002937HP:0002937Hemivertebrae1SH2B1 CL E G H25970261197ORPHA01616030417608937
HP:0002937HP:0002937Hemivertebrae1SON CL E G H6651500150ORPHA02822411183182465
HP:0002937HP:0002937Hemivertebrae1SOX2 CL E G H665777298ORPHA010510511195184429
HP:0002937HP:0002937Hemivertebrae1SUFU CL E G H51684377ORPHA04753316466607035
HP:0002937HP:0002937Hemivertebrae1TBC1D24 CL E G H5746579500ORPHA05656429203613577
HP:0002937HP:0002937Hemivertebrae1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA02026828984610657


Genes (44) :ATRX B3GLCT CCDC22 CDK10 CHD7 DLL3 DVL1 DVL3 EBP FANCB FGFR1 FZD2 GLI3 HES7 IKBKG JAG1 KDM6A KMT2D KYNU MBTPS2 MESP2 MYH3 ORC1 POR PTCH1 PTCH2 PUF60 RAD21 RAP1A RAP1B RIPPLY2 ROR2 SEMA3E SH2B1 SIX6 SON SOX2 SUFU TBC1D24 TBX6 TMCO1 WASHC5 WNT5A WNT7A

Diseases (40) :301040 261540 7 617694 138 214800 277300 3107 302960 3412 672 146510 613686 308300 118450 2322 617661 85284 178110 224690 201750 377 109400 615583 614701 616566 113000 261197 206900 500150 617140 77298 79500 122600 1394 213980 220210 276820 190440 268310
 

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