Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the lymphatic system (HP:0100763)help
Parent Node:
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Abnormality of the tonsils (HP:0100765)help
..Starting node
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Absent tonsils (HP:0030813)help
Term ID: 30813
Name: Absent tonsils
Synonym: Hypoplastic tonsils; Tonsillar hypoplasia
Definition: Lack of observable tonsillar tissue.
Comments:
Reference: HP:0030813
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal nasopharyngeal adenoid morphology (HP:3000033) help
..expandAbnormality of lingual tonsil (HP:3000076) help
..expandEnlarged tonsils (HP:0030812) help
..expandOrange discolored tonsils (HP:0030814) help
..expandRecurrent tonsillitis (HP:0011110) 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:0030813HP:0030813Absent tonsils0ADA CL E G H100186ORPHA:277Severe combined immunodeficiency due to adenosine deaminase deficiencyHP:0040282 - Frequent75
HP:0030813HP:0030813Absent tonsils0DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation.94
HP:0030813HP:0030813Absent tonsils0IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040283 - Occasional48


Genes (3) :ADA DCLRE1C IL2RG

Diseases (3) :ORPHA:277 OMIM:602450 ORPHA:276
 

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