Human Phenotype Ontology 
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Hypoplasia of mandible relative to maxilla (HP:0410219)help
Term ID: 410219
Name: Hypoplasia of mandible relative to maxilla
Synonym: Disorder of mandibular and maxillary dental arch relationship
Definition: Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).
Comments:
Reference: HP:0410219
Genes and Diseases:
 
       Child Nodes:

 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:0410219HP:0410219Hypoplasia of mandible relative to maxilla0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0410219HP:0410219Hypoplasia of mandible relative to maxilla0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0410219HP:0410219Hypoplasia of mandible relative to maxilla0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0410219HP:0410219Hypoplasia of mandible relative to maxilla0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0410219HP:0410219Hypoplasia of mandible relative to maxilla0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0410219HP:0410219Hypoplasia of mandible relative to maxilla0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0410219HP:0410219Hypoplasia of mandible relative to maxilla0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0410219HP:0410219Hypoplasia of mandible relative to maxilla0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional


Genes (8) :CARS1 ERCC2 ERCC3 GTF2E2 GTF2H5 MPLKIP RNF113A TARS1

Diseases (1) :ORPHA:33364
 

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