Human Phenotype Ontology 
Grandparent Node:
expandAbnormal jaw morphology (HP:0030791)help
Parent Node:
expandAbnormality of the maxilla (HP:0000326)help
..Starting node
..expandHyperplasia of the maxilla (HP:0430028)help
Term ID: 430028
Name: Hyperplasia of the maxilla
Synonym: Big maxilla; Big upper jaw; Hyperplasia of upper jaw; Hypertrophy of maxilla; Hypertrophy of upper jaw; Increased projection of maxilla; Increased projection of upper jaw; Increased size of maxilla; Increased size of upper jaw; Large maxilla; Large upper jaw; Maxillary excess; Maxillary hyperplasia; Maxillary macrognathia; Maxillary prognathia; Maxillary prominence; Prognathia of the upper jaw; Prominent maxilla; Prominent upper jaw; Upper jaw bone excess; Upper jaw excess
Definition: Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.
Comments:
Reference: HP:0430028
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of frontal process of maxilla (HP:3000044) help
..expandAbnormality of the premaxilla (HP:0010758) help
..expandAplasia of the maxilla (HP:0010667) help
..expandAplasia/Hypoplasia of the maxilla (HP:0009117) help
..expandArteriovenous malformation of the maxilla (HP:0031257) help
..expandAsymmetry of the maxilla (HP:0010755) help
..expandHypoplasia of the maxilla (HP:0000327) help
..expandNarrow maxilla (HP:0002010) 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:0430028HP:0430028Hyperplasia of the maxilla0AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0430028HP:0430028Hyperplasia of the maxilla0HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040283 - Occasional580
HP:0430028HP:0430028Hyperplasia of the maxilla0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040284 - Very rare580
HP:0430028HP:0430028Hyperplasia of the maxilla0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0430028HP:0430028Hyperplasia of the maxilla0SOBP CL E G H5508429256OMIM:613671Mental retardation, anterior maxillary protrusion, and strabismus29
HP:0430028HP:0430028Hyperplasia of the maxilla0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040281 - Very frequent11
HP:0430028HP:0430028Hyperplasia of the maxilla0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040281 - Very frequent8
HP:0430028HP:0430028Hyperplasia of the maxilla0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0430028HP:0430028Hyperplasia of the maxilla0ZBTB11 CL E G H2710716740OMIM:618383Intellectual developmental disorder, autosomal recessive 69.


Genes (7) :AP2M1 HBB SIN3A SOBP SOX5 WDR26 ZBTB11

Diseases (9) :OMIM:618587 ORPHA:231214 ORPHA:231226 OMIM:613406 OMIM:613671 ORPHA:313892 ORPHA:513456 OMIM:617616 OMIM:618383
 

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