Human Phenotype Ontology 
Grandparent Node:
expandAbnormal facial skeleton morphology (HP:0011821)help
Grandparent Node:
expandAbnormality of the face (HP:0000271)help
Grandparent Node:
expandCranial hyperostosis (HP:0004437)help
Parent Node:
expandCraniofacial hyperostosis (HP:0004493)help
..Starting node
..expandFacial hyperostosis (HP:0005465)help
Term ID: 5465
Name: Facial hyperostosis
Synonym: Enlargement of facial bones; Enlargement of facial skeleton; Enlargment of the facial bones; Excessive growth of facial bones; Excessive growth of facial skeleton; Hyperostosis of facial bones; Hyperostosis of facial skeleton; Hypertrophy of facial bones; Hypertrophy of facial skeleton; Hypertrophy of the facial bones; Increase in size of the facial bones; Increased ossification of facial bones; Increased ossification of facial skeleton; Overgrowth of facial bones; Overgrowth of facial skeleton; Overgrowth of the facial bones
Definition: Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.
Comments:
Reference: HP:0005465
Genes and Diseases:
 
       Child Nodes:
........expandMandibular hyperostosis (HP:0004472) help
........expandFacial palsy secondary to cranial hyperostosis (HP:0007285) help

 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:0005465HP:0005465Facial hyperostosis0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0005465HP:0005465Facial hyperostosis0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040281 - Very frequent34
HP:0005465HP:0005465Facial hyperostosis0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive.68
HP:0005465HP:0005465Facial hyperostosis0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040281 - Very frequent6
HP:0005465HP:0005465Facial hyperostosis0SOST CL E G H5096413771OMIM:269500Sclerosteosis 126
HP:0005465HP:0004472Mandibular hyperostosis1AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0005465HP:0007285Facial palsy secondary to cranial hyperostosis1SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26


Genes (5) :AKT1 AMER1 GJA1 PTDSS1 SOST

Diseases (5) :OMIM:176920 ORPHA:2780 OMIM:218400 ORPHA:2658 OMIM:269500
 

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