Human Phenotype
Ontology
Grandparent Node: Abnormal form of the vertebral bodies (HP:0003312) Parent Node: Vertebral clefting (HP:0008428) ..Starting node Butterfly vertebrae (HP:0003316)
Term ID: 3316
Name: Butterfly vertebrae
Synonym: Anterior rachischisis; Butterfly vertebrae; Sagittal clefting of vertebrae
Definition: A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.
Comments:
Reference: HP:0003316
Genes and Diseases: Child Nodes: Sister Nodes: ..Anterior clefting of vertebral bodies (HP:0009761) ..Coronal cleft vertebrae (HP:0003417) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0003316 HP:0003316 Butterfly vertebrae 0 ALG12 CL E G H 79087 19358 OMIM:607143 Congenital disorder of glycosylation, type Ig . 68 HP:0003316 HP:0003316 Butterfly vertebrae 0 ARSL CL E G H 415 719 ORPHA:79345 Brachytelephalangic chondrodysplasia punctata HP:0040283 - Occasional HP:0003316 HP:0003316 Butterfly vertebrae 0 COG1 CL E G H 9382 6545 ORPHA:263508 COG1-CDG HP:0040282 - Frequent 52 HP:0003316 HP:0003316 Butterfly vertebrae 0 COG1 CL E G H 9382 6545 OMIM:611209 Congenital disorder of glycosylation, type IIg . 52 HP:0003316 HP:0003316 Butterfly vertebrae 0 CSGALNACT1 CL E G H 55790 24290 OMIM:618870 SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA HP:0003316 HP:0003316 Butterfly vertebrae 0 FOXF1 CL E G H 2294 3809 OMIM:265380 Alveolar capillary dysplasia with misalignment of pulmonary veins 61 HP:0003316 HP:0003316 Butterfly vertebrae 0 HAAO CL E G H 23498 4796 OMIM:617660 Vertebral, cardiac, renal, and limb defects syndrome 1 . 2 HP:0003316 HP:0003316 Butterfly vertebrae 0 IPO8 CL E G H 10526 9853 OMIM:619472 VISS syndrome HP:0003316 HP:0003316 Butterfly vertebrae 0 KDM6A CL E G H 7403 12637 ORPHA:2322 Kabuki syndrome HP:0040281 - Very frequent 53 HP:0003316 HP:0003316 Butterfly vertebrae 0 KMT2D CL E G H 8085 7133 ORPHA:2322 Kabuki syndrome HP:0040281 - Very frequent 660 HP:0003316 HP:0003316 Butterfly vertebrae 0 LAMA5 CL E G H 3911 6485 OMIM:620076 5 HP:0003316 HP:0003316 Butterfly vertebrae 0 NKX3-2 CL E G H 579 951 OMIM:613330 Spondylo-Megaepiphyseal-Metaphyseal dysplasia 10 HP:0003316 HP:0003316 Butterfly vertebrae 0 OTUD5 CL E G H 55593 25402 OMIM:301056 MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND HP:0003316 HP:0003316 Butterfly vertebrae 0 RIPPLY2 CL E G H 134701 21390 OMIM:616566 Spondylocostal dysostosis 6, autosomal recessive . 3 HP:0003316 HP:0003316 Butterfly vertebrae 0 SC5D CL E G H 6309 10547 OMIM:607330 LATHOSTEROLOSIS 80 HP:0003316 HP:0003316 Butterfly vertebrae 0 SIX6 CL E G H 4990 10892 OMIM:206900 Microphthalmia, syndromic 3 . 20 HP:0003316 HP:0003316 Butterfly vertebrae 0 SOX2 CL E G H 6657 11195 OMIM:206900 Microphthalmia, syndromic 3 . 33 HP:0003316 HP:0003316 Butterfly vertebrae 0 SOX5 CL E G H 6660 11201 ORPHA:313892 Developmental and speech delay due to SOX5 deficiency HP:0040283 - Occasional 11 HP:0003316 HP:0003316 Butterfly vertebrae 0 STAG2 CL E G H 10735 11355 OMIM:301043 HOLOPROSENCEPHALY 13, X-LINKED; HPE13 1 HP:0003316 HP:0003316 Butterfly vertebrae 0 TBX6 CL E G H 6911 11605 OMIM:122600 Spondylocostal dysostosis 5 . 19 HP:0003316 HP:0003316 Butterfly vertebrae 0 WBP11 CL E G H 51729 16461 OMIM:619227 VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
