Human Phenotype Ontology 
Grandparent Node:
expand
Synostosis of joints (HP:0100240)help
Grandparent Node:
expand
Vertebral segmentation defect (HP:0003422)help
Parent Node:
expand
Vertebral fusion (HP:0002948)help
..Starting node
..expand
Block vertebrae (HP:0003305)help
Term ID: 3305
Name: Block vertebrae
Synonym:
Definition: Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).
Comments:
Reference: HP:0003305
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal vertebral segmentation and fusion (HP:0005640) help
..expandAnterior vertebral fusion (HP:0004557) help
..expandFused cervical vertebrae (HP:0002949) help
..expandFused lumbar vertebrae (HP:0030040) help
..expandFused thoracic vertebrae (HP:0030039) help
..expandPosterior fusion of lumbosacral vertebrae (HP:0005626) help
..expandSacralization of the fifth lumbar vertebra (HP:0030125) 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:0003305HP:0003305Block vertebrae0DLL3 CL E G H106832909OMIM:277300Spondylocostal dysostosis, autosomal recessive 1.45
HP:0003305HP:0003305Block vertebrae0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0003305HP:0003305Block vertebrae0HES7 CL E G H8466715977OMIM:613686Spondylocostal dysostosis 4, autosomal recessive.10
HP:0003305HP:0003305Block vertebrae0MESP2 CL E G H14587329659OMIM:277300Spondylocostal dysostosis, autosomal recessive 1.45
HP:0003305HP:0003305Block vertebrae0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0003305HP:0003305Block vertebrae0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39


Genes (6) :DLL3 FLNB HES7 MESP2 SF3B2 ZIC3

Diseases (5) :OMIM:277300 OMIM:272460 OMIM:613686 OMIM:164210 OMIM:306955
 

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