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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Thymus hyperplasia (HP:0010516)help
Term ID: 10516
Name: Thymus hyperplasia
Synonym: Enlarged thymus; Thymic hyperplasia
Definition: Enlargement of the thymus.
Comments:
Reference: HP:0010516
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAplasia/Hypoplasia of the thymus (HP:0010515) help
..expandEctopic thymus tissue (HP:0010517) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandThymic hormone decreased (HP:0003357) 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:0010516HP:0010516Thymus hyperplasia0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0010516HP:0010516Thymus hyperplasia0ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0010516HP:0010516Thymus hyperplasia0MTHFR CL E G H45247436ORPHA:563609Isolated anencephalyHP:0040283 - Occasional183
HP:0010516HP:0010516Thymus hyperplasia0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0010516HP:0010516Thymus hyperplasia0PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040283 - Occasional948
HP:0010516HP:0010516Thymus hyperplasia0VANGL2 CL E G H5721615511ORPHA:563609Isolated anencephalyHP:0040283 - Occasional2


Genes (5) :AKT1 ALG14 MTHFR PTEN VANGL2

Diseases (4) :ORPHA:744 OMIM:619036 ORPHA:563609 ORPHA:2969
 

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