Human Phenotype Ontology 
Grandparent Node:
expandAbnormal facial shape (HP:0001999)help
Parent Node:
expandFacial asymmetry (HP:0000324)help
..Starting node
..expandHemifacial hypoplasia (HP:0011332)help
Term ID: 11332
Name: Hemifacial hypoplasia
Synonym: Decrease in size of half of face; Decrease in size of one side of the face; Decreased size of half of the face; Decreased size of one side of the face; Hemifacial microsomia; Shrinking of half of face; Shrinking of one side of the face
Definition: Unilateral underdevelopment of the facial tissues, including muscles and bones.
Comments:
Reference: HP:0011332
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAsymmetric crying face (HP:0011333) help
..expandCraniofacial asymmetry (HP:0004484) help
..expandHemifacial atrophy (HP:0011331) help
..expandHemifacial hypertrophy (HP:0005323) 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:0011332HP:0011332Hemifacial hypoplasia0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0011332HP:0011332Hemifacial hypoplasia0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0011332HP:0011332Hemifacial hypoplasia0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0011332HP:0011332Hemifacial hypoplasia0SIX5 CL E G H14791210891OMIM:610896Branchiootorenal syndrome 2.10


Genes (4) :PUF60 RHOA SF3B2 SIX5

Diseases (4) :ORPHA:508488 OMIM:618727 OMIM:164210 OMIM:610896
 

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