Human Phenotype Ontology 
Grandparent Node:
expandobsolete Abnormality of calvarial morphology (HP:0002648)help
Parent Node:
expandBrachycephaly (HP:0000248)help
..Starting node
..expandAcrobrachycephaly (HP:0004487)help
Term ID: 4487
Name: Acrobrachycephaly
Synonym:
Definition: An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures.
Comments:
Reference: HP:0004487
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBrachyturricephaly (HP:0000244) 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:0004487HP:0004487Acrobrachycephaly0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0004487HP:0004487Acrobrachycephaly0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040281 - Very frequent175


Genes (1) :FGFR2

Diseases (2) :OMIM:101200 ORPHA:87
 

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