Human Phenotype Ontology 
Grandparent Node:
expandAbnormal skull morphology (HP:0000929)help
Parent Node:
expandAbnormal foramen magnum morphology (HP:0002699)help
..Starting node
..expandLarge foramen magnum (HP:0002700)help
Term ID: 2700
Name: Large foramen magnum
Synonym: Big foramen magnum; Dilation of foramen magnum; Enlarged foramen magnum; Increased circumference of foramen magnum; Increased diameter of foramen magnum; Wide foramen magnum
Definition: An abnormal increase in the size of the foramen magnum.
Comments:
Reference: HP:0002700
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandSmall foramen magnum (HP:0002677) 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:0002700HP:0002700Large foramen magnum0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0002700HP:0002700Large foramen magnum0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0002700HP:0002700Large foramen magnum0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0002700HP:0002700Large foramen magnum0GPSM2 CL E G H2989929501OMIM:604213CHUDLEY-MCCULLOUGH SYNDROME; CMCS74
HP:0002700HP:0002700Large foramen magnum0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0002700HP:0002700Large foramen magnum0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90


Genes (6) :CREBBP EP300 FLNA GPSM2 RAB23 RUNX2

Diseases (5) :OMIM:180849 OMIM:305620 OMIM:604213 OMIM:201000 OMIM:119600
 

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