Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the endocrine system (HP:0000818)help
Grandparent Node:
expandAbnormality of the lymphatic system (HP:0100763)help
Parent Node:
expandAbnormality of the thymus (HP:0000777)help
..Starting node
..expandEctopic thymus tissue (HP:0010517)help
Term ID: 10517
Name: Ectopic thymus tissue
Synonym: Abnormal thymus position
Definition: The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend.
Comments:
Reference: HP:0010517
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAplasia/Hypoplasia of the thymus (HP:0010515) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandThymic hormone decreased (HP:0003357) help
..expandThymus hyperplasia (HP:0010516) 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:0010517HP:0010517Ectopic thymus tissue0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12


Genes (1) :TFAP2A

Diseases (1) :OMIM:113620
 

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