Human Phenotype Ontology 
Grandparent Node:
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Abnormal tragus morphology (HP:0009912)help
Parent Node:
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Aplasia/Hypoplasia of the tragus (HP:0009913)help
..Starting node
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Absent tragus (HP:0011268)help
Term ID: 11268
Name: Absent tragus
Synonym:
Definition: Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix.
Comments:
Reference: HP:0011268
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandUnderdeveloped tragus (HP:0011272) 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:0011268HP:0011268Absent tragus0EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndromeHP:0040281 - Very frequent48
HP:0011268HP:0011268Absent tragus0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174


Genes (2) :EFTUD2 SMCHD1

Diseases (2) :ORPHA:79113 OMIM:603457
 

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