Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the endocrine system (HP:0000818)help
Grandparent Node:
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Abnormality of the lymphatic system (HP:0100763)help
Parent Node:
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Abnormality of the thymus (HP:0000777)help
..Starting node
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Ectopic 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010517HP:0010517Ectopic thymus tissue0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0010517HP:0010517Ectopic thymus tissue0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (1) :TFAP2A

Diseases (1) :113620
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.