Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | . | | | 102 | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | | | | | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | | | | | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | EXOC6B CL E G H | 23233 | 17085 | OMIM:618395 | Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | | | | 3 | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | | | | 145 | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | | | | 14 | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:601216 | Dental anomalies and short stature | | | | 12 | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | NPR2 CL E G H | 4882 | 7944 | OMIM:602875 | Acromesomelic dysplasia, Maroteaux type | | | | 53 | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 113 | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | | | | 113 | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 134 | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | | | | 504 | | |
HP:0008438 | HP:0008438 | Vertebral arch anomaly | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | | | | | | |
HP:0008438 | HP:0012679 | Widened interpedicular distance | 1 | CL E G H | | | | | | | | | | |
HP:0008438 | HP:0008450 | Narrow vertebral interpedicular distance | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0008438 | HP:0008450 | Narrow vertebral interpedicular distance | 1 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | . | | | | | |
HP:0008438 | HP:0008450 | Narrow vertebral interpedicular distance | 1 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | HP:0040283 - Occasional | | | | | |
HP:0008438 | HP:0008450 | Narrow vertebral interpedicular distance | 1 | EXOC6B CL E G H | 23233 | 17085 | OMIM:618395 | Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | | | | 3 | | |
HP:0008438 | HP:0008450 | Narrow vertebral interpedicular distance | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | | | | 145 | | |
HP:0008438 | HP:0008450 | Narrow vertebral interpedicular distance | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0008438 | HP:0008450 | Narrow vertebral interpedicular distance | 1 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0008438 | HP:0004617 | Butterfly vertebral arch | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0008438 | HP:0008450 | Narrow vertebral interpedicular distance | 1 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | | | | 14 | | |
HP:0008438 | HP:0008450 | Narrow vertebral interpedicular distance | 1 | LTBP3 CL E G H | 4054 | 6716 | OMIM:601216 | Dental anomalies and short stature | . | | | 12 | | |
HP:0008438 | HP:0008450 | Narrow vertebral interpedicular distance | 1 | NPR2 CL E G H | 4882 | 7944 | OMIM:602875 | Acromesomelic dysplasia, Maroteaux type | | | | 53 | | |
HP:0008438 | HP:0008450 | Narrow vertebral interpedicular distance | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 113 | | |
HP:0008438 | HP:0008450 | Narrow vertebral interpedicular distance | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | | | | 113 | | |
HP:0008438 | HP:0008450 | Narrow vertebral interpedicular distance | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0008438 | HP:0008450 | Narrow vertebral interpedicular distance | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 134 | | |
HP:0008438 | HP:0008450 | Narrow vertebral interpedicular distance | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0008438 | HP:0004616 | Cleft vertebral arch | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0008438 | HP:0008450 | Narrow vertebral interpedicular distance | 1 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0008438 | HP:0030277 | Abnormal vertebral pedicle morphology | 1 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | | | | 504 | | |
HP:0008438 | HP:0008450 | Narrow vertebral interpedicular distance | 1 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | | | | | | |
HP:0008438 | HP:0030278 | Hypoplastic vertebral pedicle | 2 | CL E G H | | | | | | | | | | |
HP:0008438 | HP:0008470 | Lower thoracic interpediculate narrowness | 2 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0008438 | HP:0008457 | Caudal interpedicular narrowing | 2 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | . | | | 14 | | |
HP:0008438 | HP:0008484 | Thoracolumbar interpediculate narrowness | 2 | NPR2 CL E G H | 4882 | 7944 | OMIM:602875 | Acromesomelic dysplasia, Maroteaux type | . | | | 53 | | |
HP:0008438 | HP:0008457 | Caudal interpedicular narrowing | 2 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0008438 | HP:0004621 | Enlarged vertebral pedicles | 2 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | . | | | 504 | | |
HP:0008438 | HP:0008457 | Caudal interpedicular narrowing | 2 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | | | | | | |
HP:0008438 | HP:0030279 | Hypoplastic L5 vertebral pedicle | 3 | CL E G H | | | | | | | | | | |
HP:0008438 | HP:0008486 | Lumbar interpedicular narrowing | 3 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |