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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Enlarged tonsils (HP:0030812)help
Term ID: 30812
Name: Enlarged tonsils
Synonym: Enlargment of tonsils; Tonsillar hypertrophy; tonsils large/hypertrophy
Definition: Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.
Comments:
Reference: HP:0030812
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal nasopharyngeal adenoid morphology (HP:3000033) help
..expandAbnormality of lingual tonsil (HP:3000076) help
..expandAbsent tonsils (HP:0030813) 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:0030812HP:0030812Enlarged tonsils0AKT2 CL E G H208392ORPHA:293964Hypoinsulinemic hypoglycemia and body hemihypertrophyHP:0040281 - Very frequent12
HP:0030812HP:0030812Enlarged tonsils0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0030812HP:0030812Enlarged tonsils0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM.33
HP:0030812HP:0030812Enlarged tonsils0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040282 - Frequent86
HP:0030812HP:0030812Enlarged tonsils0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040282 - Frequent86
HP:0030812HP:0030812Enlarged tonsils0IDUA CL E G H34255391OMIM:607014Hurler syndrome.115
HP:0030812HP:0030812Enlarged tonsils0IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0030812HP:0030812Enlarged tonsils0PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 3643


Genes (7) :AKT2 CA2 CD40LG IDS IDUA IL2RA PIK3R1

Diseases (8) :ORPHA:293964 ORPHA:2785 OMIM:308230 ORPHA:217093 ORPHA:217085 OMIM:607014 OMIM:606367 OMIM:616005
 

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