Human Phenotype Ontology 
Grandparent Node:
expandAbnormal facial skeleton morphology (HP:0011821)help
Parent Node:
expandAbnormal zygomatic bone morphology (HP:0010668)help
..Starting node
..expandAbnormal zygomatic arch morphology (HP:0005557)help
Term ID: 5557
Name: Abnormal zygomatic arch morphology
Synonym: Abnormality of the malar arch; Abnormality of the zygomatic arch; Anomaly of the malar arch; Anomaly of the zygomatic arch; Deformity of the malar arch; Deformity of the zygomatic arch; Malformation of the malar arch; Malformation of the zygomatic arch
Definition: An abnormality of the zygomatic arch, also known as the cheek bone.
Comments:
Reference: HP:0005557
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypoplasia of the zygomatic bone (HP:0010669) help
..expandobsolete Abnormal malar bone morphology (HP:0012369) help
..expandProminence of the zygomatic bone (HP:0012370) 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:0005557HP:0005557Abnormal zygomatic arch morphology0POLR1A CL E G H2588517264OMIM:616462Acrofacial dysostosis, Cincinnati type8
HP:0005557HP:0005557Abnormal zygomatic arch morphology0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0005557HP:0034260Aplastic zygomatic arch1POLR1A CL E G H2588517264OMIM:616462Acrofacial dysostosis, Cincinnati type8
HP:0005557HP:0034260Aplastic zygomatic arch1TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7


Genes (2) :POLR1A TWIST2

Diseases (2) :OMIM:616462 OMIM:200110
 

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