Human Phenotype Ontology 
Grandparent Node:
expandAbnormal skull morphology (HP:0000929)help
Grandparent Node:
expandAbnormality of the face (HP:0000271)help
Parent Node:
expandCraniofacial dysostosis (HP:0004439)help
..Starting node
..expandMandibulofacial dysostosis (HP:0005321)help
Term ID: 5321
Name: Mandibulofacial dysostosis
Synonym: Treacher Collins syndrome
Definition: A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations.
Comments:
Reference: HP:0005321
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital craniofacial dysostosis (HP:0008497) 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:0005321HP:0005321Mandibulofacial dysostosis0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia.3
HP:0005321HP:0005321Mandibulofacial dysostosis0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type.48
HP:0005321HP:0005321Mandibulofacial dysostosis0POLR1C CL E G H953320194OMIM:248390Treacher collins syndrome 3.38
HP:0005321HP:0005321Mandibulofacial dysostosis0RPS26 CL E G H623110414OMIM:613309Diamond-blackfan anemia 10HP:0040283 - Occasional20


Genes (4) :EDNRA EFTUD2 POLR1C RPS26

Diseases (4) :OMIM:616367 OMIM:610536 OMIM:248390 OMIM:613309
 

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