Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the outer ear (HP:0000356)help
Parent Node:
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Abnormal location of ears (HP:0000357)help
..Starting node
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Synotia (HP:0100663)help
Term ID: 100663
Name: Synotia
Synonym:
Definition: A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw.
Comments:
Reference: HP:0100663
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAnteverted ears (HP:0040080) help
..expandAsymmetry of the ears (HP:0010722) help
..expandLow-set ears (HP:0000369) help
..expandPosteriorly rotated ears (HP:0000358) help
..expandSuperiorly displaced ears (HP:0008541) 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:0100663HP:0100663Synotia0OTX2 CL E G H50158522ORPHA:990Agnathia-holoprosencephaly-situs inversus syndromeHP:0040281 - Very frequent41
HP:0100663HP:0100663Synotia0PRRX1 CL E G H53969142ORPHA:990Agnathia-holoprosencephaly-situs inversus syndromeHP:0040281 - Very frequent4
HP:0100663HP:0100663Synotia0PRRX1 CL E G H53969142OMIM:202650Agnathia-Otocephaly complex.4


Genes (2) :OTX2 PRRX1

Diseases (2) :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.