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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002937HP:0002937Hemivertebrae0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040284 - Very rare5
HP:0002937HP:0002937Hemivertebrae0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0002937HP:0002937Hemivertebrae0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0002937HP:0002937Hemivertebrae0CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0002937HP:0002937Hemivertebrae0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0002937HP:0002937Hemivertebrae0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0002937HP:0002937Hemivertebrae0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040283 - Occasional515
HP:0002937HP:0002937Hemivertebrae0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0002937HP:0002937Hemivertebrae0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0002937HP:0002937Hemivertebrae0DLL3 CL E G H106832909OMIM:277300Spondylocostal dysostosis, autosomal recessive 1.45
HP:0002937HP:0002937Hemivertebrae0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0002937HP:0002937Hemivertebrae0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0002937HP:0002937Hemivertebrae0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0002937HP:0002937Hemivertebrae0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0002937HP:0002937Hemivertebrae0FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040282 - Frequent58
HP:0002937HP:0002937Hemivertebrae0FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1172
HP:0002937HP:0002937Hemivertebrae0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0002937HP:0002937Hemivertebrae0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndromeHP:0040284 - Very rare270
HP:0002937HP:0002937Hemivertebrae0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0002937HP:0002937Hemivertebrae0GLI3 CL E G H27374319ORPHA:93322Tibial hemimeliaHP:0040284 - Very rare270
HP:0002937HP:0002937Hemivertebrae0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0002937HP:0002937Hemivertebrae0HES7 CL E G H8466715977OMIM:613686Spondylocostal dysostosis 4, autosomal recessive.10
HP:0002937HP:0002937Hemivertebrae0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0002937HP:0002937Hemivertebrae0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0002937HP:0002937Hemivertebrae0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040281 - Very frequent53
HP:0002937HP:0002937Hemivertebrae0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040281 - Very frequent660
HP:0002937HP:0002937Hemivertebrae0KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 2.5
HP:0002937HP:0002937Hemivertebrae0LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome124
HP:0002937HP:0002937Hemivertebrae0LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0002937HP:0002937Hemivertebrae0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0002937HP:0002937Hemivertebrae0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0002937HP:0002937Hemivertebrae0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040282 - Frequent22
HP:0002937HP:0002937Hemivertebrae0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0002937HP:0002937Hemivertebrae0MESP2 CL E G H14587329659OMIM:608681Spondylocostal dysostosis 2, autosomal recessive.45
HP:0002937HP:0002937Hemivertebrae0MESP2 CL E G H14587329659OMIM:277300Spondylocostal dysostosis, autosomal recessive 1.45
HP:0002937HP:0002937Hemivertebrae0MYH3 CL E G H46217573OMIM:178110Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A.166
HP:0002937HP:0002937Hemivertebrae0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0002937HP:0002937Hemivertebrae0PAICS CL E G H106068587OMIM:619859
HP:0002937HP:0002937Hemivertebrae0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0002937HP:0002937Hemivertebrae0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0002937HP:0002937Hemivertebrae0PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040283 - Occasional665
HP:0002937HP:0002937Hemivertebrae0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0002937HP:0002937Hemivertebrae0PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040283 - Occasional40
HP:0002937HP:0002937Hemivertebrae0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0002937HP:0002937Hemivertebrae0PUF60 CL E G H2282717042OMIM:615583Verheij syndrome.19
HP:0002937HP:0002937Hemivertebrae0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 4HP:0040283 - Occasional25
HP:0002937HP:0002937Hemivertebrae0RIPPLY2 CL E G H13470121390OMIM:616566Spondylocostal dysostosis 6, autosomal recessive.3
HP:0002937HP:0002937Hemivertebrae0ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1.120
HP:0002937HP:0002937Hemivertebrae0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0002937HP:0002937Hemivertebrae0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0002937HP:0002937Hemivertebrae0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040283 - Occasional16
HP:0002937HP:0002937Hemivertebrae0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0002937HP:0002937Hemivertebrae0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0002937HP:0002937Hemivertebrae0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0002937HP:0002937Hemivertebrae0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0002937HP:0002937Hemivertebrae0SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndromeHP:0040283 - Occasional33
HP:0002937HP:0002937Hemivertebrae0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0002937HP:0002937Hemivertebrae0STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0002937HP:0002937Hemivertebrae0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0002937HP:0002937Hemivertebrae0SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040283 - Occasional124
HP:0002937HP:0002937Hemivertebrae0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040284 - Very rare271
HP:0002937HP:0002937Hemivertebrae0TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION.
HP:0002937HP:0002937Hemivertebrae0TBX6 CL E G H691111605OMIM:122600Spondylocostal dysostosis 519
HP:0002937HP:0002937Hemivertebrae0TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasiaHP:0040281 - Very frequent6
HP:0002937HP:0002937Hemivertebrae0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0002937HP:0002937Hemivertebrae0WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0002937HP:0002937Hemivertebrae0WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 1.83
HP:0002937HP:0002937Hemivertebrae0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98
HP:0002937HP:0002937Hemivertebrae0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency.13
HP:0002937HP:0008439Lumbar hemivertebrae1EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0002937HP:0008439Lumbar hemivertebrae1FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1.172
HP:0002937HP:0008467Thoracic hemivertebrae1H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0002937HP:0025481Cervical hemivertebrae1MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0002937HP:0008439Lumbar hemivertebrae1PAICS CL E G H106068587OMIM:619859
HP:0002937HP:0008467Thoracic hemivertebrae1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0002937HP:0025481Cervical hemivertebrae1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0002937HP:0008467Thoracic hemivertebrae1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0002937HP:0008467Thoracic hemivertebrae1STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131


Genes (56) :ATP6V1B2 ATRX B3GLCT CAPN15 CCDC22 CDK10 CHD7 DLK1 DLL3 DVL1 DVL3 EBP EIF5A FANCB FGFR1 FZD2 GLI3 H3-3B HES7 IKBKG JAG1 KDM6A KMT2D KYNU LRP4 LYSET MADD MBD5 MBTPS2 MEG3 MESP2 MYH3 ORC1 PAICS POR PTCH1 PTCH2 PUF60 RAD21 RIPPLY2 ROR2 RTL1 SEMA3E SF3B2 SIX6 SON SOX2 STAG2 SUFU TBC1D24 TBX2 TBX6 TMCO1 WASHC5 WNT5A WNT7A

Diseases (54) :ORPHA:79500 OMIM:301040 OMIM:261540 OMIM:619318 ORPHA:7 OMIM:617694 ORPHA:138 OMIM:214800 ORPHA:96334 OMIM:277300 ORPHA:3107 OMIM:302960 OMIM:619376 ORPHA:3412 OMIM:190440 OMIM:146510 ORPHA:672 ORPHA:93322 OMIM:619721 OMIM:613686 OMIM:308300 OMIM:118450 ORPHA:2322 OMIM:617661 OMIM:212780 OMIM:619345 OMIM:619004 OMIM:156200 ORPHA:85284 OMIM:608681 OMIM:178110 OMIM:224690 OMIM:619859 OMIM:201750 OMIM:109400 ORPHA:377 ORPHA:508498 OMIM:615583 OMIM:614701 OMIM:616566 OMIM:113000 OMIM:268310 OMIM:164210 OMIM:206900 ORPHA:500150 OMIM:617140 ORPHA:77298 OMIM:301043 OMIM:618223 OMIM:122600 ORPHA:1394 OMIM:213980 OMIM:220210 OMIM:276820
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.