Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the skull base (HP:0002693)help
Parent Node:
expandAbnormal posterior cranial fossa morphology (HP:0000932)help
..Starting node
..expandBasilar invagination (HP:0012366)help
Term ID: 12366
Name: Basilar invagination
Synonym:
Definition: Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama).
Comments:
Reference: HP:0012366
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of the clivus (HP:0010558) help
..expandBasilar impression (HP:0005758) help
..expandEnlarged posterior fossa (HP:0005445) help
..expandFlat posterior fossa (HP:0040011) help
..expandPosterior fossa cyst (HP:0007291) help
..expandSmall posterior fossa (HP:0040010) help
..expandThinning and bulging of the posterior fossa bones (HP:0000931) 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:0012366HP:0012366Basilar invagination0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0012366HP:0012366Basilar invagination0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type IHP:0040283 - Occasional
HP:0012366HP:0012366Basilar invagination0MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomaliesHP:0040284 - Very rare


Genes (3) :B3GALT6 DKK1 MYF5

Diseases (3) :ORPHA:536467 ORPHA:268882 OMIM:618155
 

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