Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal mandible morphology (HP:0000277)help
Grandparent Node:
expand
Aplasia/Hypoplasia involving bones of the skull (HP:0009116)help
Parent Node:
expand
Aplasia/Hypoplasia of the mandible (HP:0009118)help
..Starting node
..expand
Mandibular aplasia (HP:0009939)help
Term ID: 9939
Name: Mandibular aplasia
Synonym: Absence of lower jaw; Absence of lower jaw bone; Absence of lower jaw bones; Absence of mandible; Absent mandible; Agenesis of the mandible; Agnathia; Aplasia of the lower jaw bone; Failure of development of lower jaw; Failure of development of mandible; Missing lower jaw
Definition: Absence of the mandible.
Comments:
Reference: HP:0009939
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandMicrognathia (HP:0000347) 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:0009939HP:0009939Mandibular aplasia0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent9
HP:0009939HP:0009939Mandibular aplasia0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent31
HP:0009939HP:0009939Mandibular aplasia0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent50
HP:0009939HP:0009939Mandibular aplasia0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent6
HP:0009939HP:0009939Mandibular aplasia0FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasiaHP:0040282 - Frequent35
HP:0009939HP:0009939Mandibular aplasia0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent3
HP:0009939HP:0009939Mandibular aplasia0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent11
HP:0009939HP:0009939Mandibular aplasia0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent3
HP:0009939HP:0009939Mandibular aplasia0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent53
HP:0009939HP:0009939Mandibular aplasia0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent21
HP:0009939HP:0009939Mandibular aplasia0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent39
HP:0009939HP:0009939Mandibular aplasia0OTX2 CL E G H50158522ORPHA:990Agnathia-holoprosencephaly-situs inversus syndromeHP:0040281 - Very frequent41
HP:0009939HP:0009939Mandibular aplasia0PRRX1 CL E G H53969142ORPHA:990Agnathia-holoprosencephaly-situs inversus syndromeHP:0040281 - Very frequent4
HP:0009939HP:0009939Mandibular aplasia0PRRX1 CL E G H53969142OMIM:202650Agnathia-Otocephaly complex.4


Genes (13) :CDC45 CDC6 CDT1 COX7B FAM20C GMNN HCCS NDUFB11 ORC1 ORC4 ORC6 OTX2 PRRX1

Diseases (5) :ORPHA:2554 ORPHA:2556 ORPHA:1832 ORPHA:990 OMIM:202650
 

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