Human Phenotype Ontology 
Grandparent Node:
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Abnormal vertebral morphology (HP:0003468)help
Grandparent Node:
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Aplasia/Hypoplasia involving the vertebral column (HP:0008518)help
Parent Node:
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Aplasia/Hypoplasia of the vertebrae (HP:0008515)help
..Starting node
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Vertebral hypoplasia (HP:0008417)help
Term ID: 8417
Name: Vertebral hypoplasia
Synonym: Underdeveloped vertebrae
Definition: Small, underdeveloped vertebral bodies.
Comments:
Reference: HP:0008417
Genes and Diseases:
 
       Child Nodes:
........expandHypoplastic 5th lumbar vertebrae (HP:0008424) help
........expandHypoplastic cervical vertebrae (HP:0008434) help
........expandHypoplastic coccygeal vertebrae (HP:0008447) help
........expandPosterior vertebral hypoplasia (HP:0008451) help
........expandCentral vertebral hypoplasia (HP:0008463) help
........expandHypoplastic sacral vertebrae (HP:0008475) help
........expandHypoplastic vertebral bodies (HP:0008479) help
................... HP:0004629 Small cervical vertebral bodies
................... HP:0008473 Narrow anterio-posterior vertebral body diameter

 Sister Nodes: 
..expandAbsent vertebra (HP:0008465) 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:0008417HP:0008417Vertebral hypoplasia0ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva49
HP:0008417HP:0008417Vertebral hypoplasia0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040283 - Occasional
HP:0008417HP:0008417Vertebral hypoplasia0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0008417HP:0008417Vertebral hypoplasia0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0008417HP:0008417Vertebral hypoplasia0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional284
HP:0008417HP:0008417Vertebral hypoplasia0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0008417HP:0008417Vertebral hypoplasia0DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat type
HP:0008417HP:0008417Vertebral hypoplasia0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.HP:0003593 - Infantile onset
HP:0008417HP:0008417Vertebral hypoplasia0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0008417HP:0008417Vertebral hypoplasia0FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type IIIHP:0040282 - Frequent233
HP:0008417HP:0008417Vertebral hypoplasia0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0008417HP:0008417Vertebral hypoplasia0FLNB CL E G H23173755OMIM:150250Larsen syndrome233
HP:0008417HP:0008417Vertebral hypoplasia0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional9
HP:0008417HP:0008417Vertebral hypoplasia0FUZ CL E G H8019926219ORPHA:3027Caudal regression sequence3
HP:0008417HP:0008417Vertebral hypoplasia0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1120
HP:0008417HP:0008417Vertebral hypoplasia0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I120
HP:0008417HP:0008417Vertebral hypoplasia0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0008417HP:0008417Vertebral hypoplasia0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0008417HP:0008417Vertebral hypoplasia0INPPL1 CL E G H36366080ORPHA:2746Opsismodysplasia18
HP:0008417HP:0008417Vertebral hypoplasia0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA18
HP:0008417HP:0008417Vertebral hypoplasia0INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasia18
HP:0008417HP:0008417Vertebral hypoplasia0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0008417HP:0008417Vertebral hypoplasia0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0008417HP:0008417Vertebral hypoplasia0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndrome138
HP:0008417HP:0008417Vertebral hypoplasia0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0008417HP:0008417Vertebral hypoplasia0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistance113
HP:0008417HP:0008417Vertebral hypoplasia0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0008417HP:0008417Vertebral hypoplasia0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0008417HP:0008417Vertebral hypoplasia0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0008417HP:0008417Vertebral hypoplasia0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistance134
HP:0008417HP:0008417Vertebral hypoplasia0RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0008417HP:0008417Vertebral hypoplasia0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0008417HP:0008417Vertebral hypoplasia0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0008417HP:0008417Vertebral hypoplasia0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0008417HP:0008417Vertebral hypoplasia0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0008417HP:0008417Vertebral hypoplasia0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0008417HP:0008417Vertebral hypoplasia0SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0008417HP:0008417Vertebral hypoplasia0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4166
HP:0008417HP:0008417Vertebral hypoplasia0SLC29A3 CL E G H5531523096ORPHA:1782Dysosteosclerosis68
HP:0008417HP:0008417Vertebral hypoplasia0SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasia9
HP:0008417HP:0008417Vertebral hypoplasia0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0008417HP:0008417Vertebral hypoplasia0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0008417HP:0008417Vertebral hypoplasia0SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency80
HP:0008417HP:0008417Vertebral hypoplasia0TCIRG1 CL E G H1031211647ORPHA:1782Dysosteosclerosis82
HP:0008417HP:0008417Vertebral hypoplasia0TNFRSF11A CL E G H879211908ORPHA:1782Dysosteosclerosis72
HP:0008417HP:0008417Vertebral hypoplasia0TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasia214
HP:0008417HP:0008417Vertebral hypoplasia0VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequence111
HP:0008417HP:0008479Hypoplastic vertebral bodies1ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva49
HP:0008417HP:0008434Hypoplastic cervical vertebrae1ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040283 - Occasional
HP:0008417HP:0008447Hypoplastic coccygeal vertebrae1CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0008417HP:0008451Posterior vertebral hypoplasia1COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0008417HP:0008479Hypoplastic vertebral bodies1CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0008417HP:0008463Central vertebral hypoplasia1DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.
HP:0008417HP:0008463Central vertebral hypoplasia1DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat typeHP:0040282 - Frequent
HP:0008417HP:0008434Hypoplastic cervical vertebrae1EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0008417HP:0008434Hypoplastic cervical vertebrae1FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0008417HP:0008479Hypoplastic vertebral bodies1FUZ CL E G H8019926219ORPHA:3027Caudal regression sequenceHP:0040281 - Very frequent3
HP:0008417HP:0008479Hypoplastic vertebral bodies1GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040283 - Occasional120
HP:0008417HP:0008479Hypoplastic vertebral bodies1GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I.120
HP:0008417HP:0008479Hypoplastic vertebral bodies1GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0008417HP:0008479Hypoplastic vertebral bodies1GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0008417HP:0008479Hypoplastic vertebral bodies1INPPL1 CL E G H36366080ORPHA:2746OpsismodysplasiaHP:0040281 - Very frequent18
HP:0008417HP:0008479Hypoplastic vertebral bodies1INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0008417HP:0008479Hypoplastic vertebral bodies1INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent18
HP:0008417HP:0008479Hypoplastic vertebral bodies1KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0008417HP:0008479Hypoplastic vertebral bodies1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0008417HP:0008424Hypoplastic 5th lumbar vertebrae1NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040282 - Frequent138
HP:0008417HP:0008479Hypoplastic vertebral bodies1PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent113
HP:0008417HP:0008434Hypoplastic cervical vertebrae1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0008417HP:0008479Hypoplastic vertebral bodies1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040283 - Occasional138
HP:0008417HP:0008479Hypoplastic vertebral bodies1PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance.134
HP:0008417HP:0008479Hypoplastic vertebral bodies1PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent134
HP:0008417HP:0008479Hypoplastic vertebral bodies1RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0008417HP:0008475Hypoplastic sacral vertebrae1RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0008417HP:0008447Hypoplastic coccygeal vertebrae1RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0008417HP:0008434Hypoplastic cervical vertebrae1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040283 - Occasional166
HP:0008417HP:0008434Hypoplastic cervical vertebrae1SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040281 - Very frequent166
HP:0008417HP:0008434Hypoplastic cervical vertebrae1SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia.166
HP:0008417HP:0008434Hypoplastic cervical vertebrae1SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040283 - Occasional166
HP:0008417HP:0008479Hypoplastic vertebral bodies1SLC29A3 CL E G H5531523096ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent68
HP:0008417HP:0008479Hypoplastic vertebral bodies1SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent9
HP:0008417HP:0008434Hypoplastic cervical vertebrae1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0008417HP:0008479Hypoplastic vertebral bodies1SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency.80
HP:0008417HP:0008479Hypoplastic vertebral bodies1TCIRG1 CL E G H1031211647ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent82
HP:0008417HP:0008479Hypoplastic vertebral bodies1TNFRSF11A CL E G H879211908ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent72
HP:0008417HP:0008434Hypoplastic cervical vertebrae1TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasiaHP:0040281 - Very frequent214
HP:0008417HP:0008479Hypoplastic vertebral bodies1VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequenceHP:0040281 - Very frequent111
HP:0008417HP:0008473Narrow anterio-posterior vertebral body diameter2 CL E G H
HP:0008417HP:0004629Small cervical vertebral bodies2ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva.49
HP:0008417HP:0004629Small cervical vertebral bodies2CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0008417HP:0004629Small cervical vertebral bodies2KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0008417HP:0005638Decreased anterioposterior diameter of lumbar vertebral bodies3 CL E G H


Genes (36) :ACVR1 ARSL CLCN3 COL11A1 COL2A1 CSPP1 DDRGK1 EBP FLNB FN1 FUZ GLB1 GNS INPPL1 KIAA0586 LBR NOTCH2 NSDHL PDE4D POGZ POLR3A PRKAR1A RINT1 RPS19 SF3B2 SIX6 SLC26A2 SLC29A3 SLC35D1 SOX2 SOX9 SUMF1 TCIRG1 TNFRSF11A TRPV4 VANGL1

Diseases (39) :OMIM:135100 ORPHA:79345 OMIM:619512 OMIM:228520 ORPHA:93315 ORPHA:397715 ORPHA:93352 OMIM:602557 ORPHA:35173 ORPHA:56305 OMIM:108720 OMIM:150250 ORPHA:3027 ORPHA:79255 OMIM:230500 OMIM:230600 OMIM:252940 ORPHA:2746 OMIM:258480 ORPHA:3144 OMIM:215140 ORPHA:955 OMIM:308050 ORPHA:280651 OMIM:616364 ORPHA:3455 OMIM:101800 OMIM:618641 OMIM:105650 OMIM:164210 OMIM:206900 ORPHA:56304 ORPHA:628 OMIM:222600 ORPHA:93307 ORPHA:1782 OMIM:114290 OMIM:272200 ORPHA:2635
 

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