Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the face (HP:0000271)help
Parent Node:
expandAbnormal midface morphology (HP:0000309)help
..Starting node
..expandHyperplasia of midface (HP:0012371)help
Term ID: 12371
Name: Hyperplasia of midface
Synonym: Big midface; Hypertrophy of midface; Large midface; Midface hyperplasia; Midfacial excess; Midfacial prominence; Overgrowth of the midface
Definition: Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face
Comments:
Reference: HP:0012371
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal cheek morphology (HP:0004426) help
..expandMidface retrusion (HP:0011800) help
..expandobsolete Abnormal malar bone morphology (HP:0012369) help
..expandobsolete Abnormality of the shape of the midface (HP:0430026) 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:0012371HP:0012371Hyperplasia of midface0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0012371HP:0012371Hyperplasia of midface0NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 102
HP:0012371HP:0012371Hyperplasia of midface0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0012371HP:0012371Hyperplasia of midface0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy6


Genes (4) :IRX5 NSMCE2 SPART STRADA

Diseases (4) :OMIM:611174 OMIM:617253 OMIM:275900 OMIM:611087
 

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