Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the anterior fontanelle (HP:0000236)help
Grandparent Node:
expandDelayed cranial suture closure (HP:0000270)help
Parent Node:
expandDelayed closure of the anterior fontanelle (HP:0001476)help
..Starting node
..expandPersistent open anterior fontanelle (HP:0004474)help
Term ID: 4474
Name: Persistent open anterior fontanelle
Synonym: Anterior fontanelle open in adults; Front fontanelle stays open; Persistent, open anterior fontanel
Definition: The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.
Comments:
Reference: HP:0004474
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004474HP:0004474Persistent open anterior fontanelle0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040283 - Occasional102
HP:0004474HP:0004474Persistent open anterior fontanelle0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0004474HP:0004474Persistent open anterior fontanelle0CTSK CL E G H15132536ORPHA:763PycnodysostosisHP:0040281 - Very frequent39
HP:0004474HP:0004474Persistent open anterior fontanelle0CTSK CL E G H15132536OMIM:265800PYCNODYSOSTOSIS.39
HP:0004474HP:0004474Persistent open anterior fontanelle0GH1 CL E G H26884261OMIM:262400Growth hormone deficiency, isolated, type IA50
HP:0004474HP:0004474Persistent open anterior fontanelle0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90


Genes (5) :ANKRD11 ATP7A CTSK GH1 RUNX2

Diseases (6) :ORPHA:2332 OMIM:304150 ORPHA:763 OMIM:265800 OMIM:262400 OMIM:119600
 

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