Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | | | | 49 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040283 - Occasional | | | | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | | | | 215 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040283 - Occasional | | | 284 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | | | | | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | . | HP:0003593 - Infantile onset | | | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:56305 | Atelosteogenesis type III | HP:0040282 - Frequent | | | 233 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | | | | 233 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | | | | 233 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040283 - Occasional | | | 9 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | | | | 3 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | | | | 120 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | | | | 120 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | | | | 120 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:2746 | Opsismodysplasia | | | | 18 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | | | | 18 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:3144 | Schneckenbecken dysplasia | | | | 18 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 113 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 134 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | . | | | 2 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 20 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | | | | 166 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | | | | 166 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | | | | 166 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:1782 | Dysosteosclerosis | | | | 68 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | SLC35D1 CL E G H | 23169 | 20800 | ORPHA:3144 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 33 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | | | | 80 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:1782 | Dysosteosclerosis | | | | 82 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:1782 | Dysosteosclerosis | | | | 72 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | | | | 214 | | |
HP:0008417 | HP:0008417 | Vertebral hypoplasia | 0 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | | | | 111 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | | | | 49 | | |
HP:0008417 | HP:0008434 | Hypoplastic cervical vertebrae | 1 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040283 - Occasional | | | | | |
HP:0008417 | HP:0008447 | Hypoplastic coccygeal vertebrae | 1 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0008417 | HP:0008451 | Posterior vertebral hypoplasia | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | . | | | 215 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0008417 | HP:0008463 | Central vertebral hypoplasia | 1 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | . | | | | | |
HP:0008417 | HP:0008463 | Central vertebral hypoplasia | 1 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | HP:0040282 - Frequent | | | | | |
HP:0008417 | HP:0008434 | Hypoplastic cervical vertebrae | 1 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0008417 | HP:0008434 | Hypoplastic cervical vertebrae | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | HP:0040281 - Very frequent | | | 3 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040283 - Occasional | | | 120 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | . | | | 120 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | | | | 120 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:2746 | Opsismodysplasia | HP:0040281 - Very frequent | | | 18 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | . | | | 18 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040281 - Very frequent | | | 18 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0008417 | HP:0008424 | Hypoplastic 5th lumbar vertebrae | 1 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 113 | | |
HP:0008417 | HP:0008434 | Hypoplastic cervical vertebrae | 1 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | . | | | 134 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 134 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0008417 | HP:0008475 | Hypoplastic sacral vertebrae | 1 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0008417 | HP:0008447 | Hypoplastic coccygeal vertebrae | 1 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0008417 | HP:0008434 | Hypoplastic cervical vertebrae | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040283 - Occasional | | | 166 | | |
HP:0008417 | HP:0008434 | Hypoplastic cervical vertebrae | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | HP:0040281 - Very frequent | | | 166 | | |
HP:0008417 | HP:0008434 | Hypoplastic cervical vertebrae | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | . | | | 166 | | |
HP:0008417 | HP:0008434 | Hypoplastic cervical vertebrae | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040283 - Occasional | | | 166 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 68 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | SLC35D1 CL E G H | 23169 | 20800 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040281 - Very frequent | | | 9 | | |
HP:0008417 | HP:0008434 | Hypoplastic cervical vertebrae | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | . | | | 80 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 72 | | |
HP:0008417 | HP:0008434 | Hypoplastic cervical vertebrae | 1 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | HP:0040281 - Very frequent | | | 214 | | |
HP:0008417 | HP:0008479 | Hypoplastic vertebral bodies | 1 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | HP:0040281 - Very frequent | | | 111 | | |
HP:0008417 | HP:0008473 | Narrow anterio-posterior vertebral body diameter | 2 | CL E G H | | | | | | | | | | |
HP:0008417 | HP:0004629 | Small cervical vertebral bodies | 2 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | . | | | 49 | | |
HP:0008417 | HP:0004629 | Small cervical vertebral bodies | 2 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0008417 | HP:0004629 | Small cervical vertebral bodies | 2 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0008417 | HP:0005638 | Decreased anterioposterior diameter of lumbar vertebral bodies | 3 | CL E G H | | | | | | | | | | |