Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the thymus (HP:0000777)help
Parent Node:
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Aplasia/Hypoplasia of the thymus (HP:0010515)help
..Starting node
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Aplasia of the thymus (HP:0005359)help
Term ID: 5359
Name: Aplasia of the thymus
Synonym: Absent thymic shadow; Absent thymus; Athymia; Lack of thymic shadow
Definition: Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.
Comments:
Reference: HP:0005359
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypoplasia of the thymus (HP:0000778) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0005359HP:0005359Aplasia of the thymus0ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1387186608958
HP:0005359HP:0005359Aplasia of the thymus0ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1341186608958
HP:0005359HP:0005359Aplasia of the thymus0DCLRE1C CL E G H64421602450Severe combined immunodeficiency with sensitivity to ionizing radiation602450C1865370OMIM150917642605988
HP:0005359HP:0005359Aplasia of the thymus0DCLRE1C CL E G H64421602450Severe combined immunodeficiency with sensitivity to ionizing radiation602450C1865370OMIM159417642605988
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (2) :ADA DCLRE1C

Diseases (2) :102700 602450
 

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