Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the lymphatic system (HP:0100763)help
Parent Node:
expand
Abnormality of the tonsils (HP:0100765)help
..Starting node
..expand
Recurrent tonsillitis (HP:0011110)help
Term ID: 11110
Name: Recurrent tonsillitis
Synonym: Recurrent inflammation of tonsils
Definition: Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.
Comments:
Reference: HP:0011110
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
..expandEnlarged tonsils (HP:0030812) help
..expandOrange discolored tonsils (HP:0030814) 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:0011110HP:0011110Recurrent tonsillitis0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0011110HP:0011110Recurrent tonsillitis0C3 CL E G H7181318OMIM:613779Complement component 3 deficiency, autosomal recessive92
HP:0011110HP:0011110Recurrent tonsillitis0CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0011110HP:0011110Recurrent tonsillitis0ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040282 - Frequent79
HP:0011110HP:0011110Recurrent tonsillitis0IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0011110HP:0011110Recurrent tonsillitis0IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0011110HP:0011110Recurrent tonsillitis0MPEG1 CL E G H21997229619OMIM:619223IMMUNODEFICIENCY 77; IMD77
HP:0011110HP:0011110Recurrent tonsillitis0MYO5A CL E G H46447602OMIM:214450Griscelli syndrome, type 135
HP:0011110HP:0011110Recurrent tonsillitis0RIPK1 CL E G H873710019OMIM:618852AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0011110HP:0011110Recurrent tonsillitis0SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional67
HP:0011110HP:0011110Recurrent tonsillitis0SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional61
HP:0011110HP:0011110Recurrent tonsillitis0SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional57


Genes (12) :BLM C3 CYBC1 ELANE IGHG2 IGKC MPEG1 MYO5A RIPK1 SCNN1A SCNN1B SCNN1G

Diseases (9) :ORPHA:125 OMIM:613779 OMIM:618935 ORPHA:2686 ORPHA:183675 OMIM:619223 OMIM:214450 OMIM:618852 ORPHA:171876
 

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