Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the immune system (HP:0002715)help
Parent Node:
expand
Abnormality of the lymphatic system (HP:0100763)help
..Starting node
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Abnormality of the tonsils (HP:0100765)help
Term ID: 100765
Name: Abnormality of the tonsils
Synonym:
Definition: An abnormality of the tonsils.
Comments:
Reference: HP:0100765
Genes and Diseases:
 
       Child Nodes:
........expandTonsillitis (HP:0011110) help
........expandEnlarged tonsils (HP:0030812) help
........expandAbsent tonsils (HP:0030813) help
........expandOrange discoloured tonsils (HP:0030814) help
........expandAbnormality of nasopharyngeal adenoids (HP:3000033) help
................... HP:0031458 Adenoiditis
................... HP:0040256 Aplastic/Hypoplastic nasopharyngeal adenoids
................... HP:0040257 Abnormal size of nasopharyngeal adenoids
........expandAbnormality of lingual tonsil (HP:3000076) help

 Sister Nodes: 
..expandAbnormal lymphatic vessel morphology (HP:0100766) help
..expandAbnormal pulmonary lymphatics (HP:0006529) help
..expandAbnormality of the lymph nodes (HP:0002733) help
..expandAbnormality of the spleen (HP:0001743) help
..expandAbnormality of the thymus (HP:0000777) help
..expandLymphangioma (HP:0100764) 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:0100765HP:0100765Abnormality of the tonsils0ABCA1 CL E G H1929ORPHA:31150Tangier disease191
HP:0100765HP:0100765Abnormality of the tonsils0ADA CL E G H100186ORPHA:277Severe combined immunodeficiency due to adenosine deaminase deficiency75
HP:0100765HP:0100765Abnormality of the tonsils0AKT2 CL E G H208392ORPHA:293964Hypoinsulinemic hypoglycemia and body hemihypertrophy12
HP:0100765HP:0100765Abnormality of the tonsils0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0100765HP:0100765Abnormality of the tonsils0BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0100765HP:0100765Abnormality of the tonsils0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0100765HP:0100765Abnormality of the tonsils0C3 CL E G H7181318OMIM:613779Complement component 3 deficiency, autosomal recessive92
HP:0100765HP:0100765Abnormality of the tonsils0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0100765HP:0100765Abnormality of the tonsils0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0100765HP:0100765Abnormality of the tonsils0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0100765HP:0100765Abnormality of the tonsils0CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0100765HP:0100765Abnormality of the tonsils0DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation94
HP:0100765HP:0100765Abnormality of the tonsils0ELANE CL E G H19913309ORPHA:2686Cyclic neutropenia79
HP:0100765HP:0100765Abnormality of the tonsils0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0100765HP:0100765Abnormality of the tonsils0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0100765HP:0100765Abnormality of the tonsils0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0100765HP:0100765Abnormality of the tonsils0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0100765HP:0100765Abnormality of the tonsils0IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040281 - Very frequent115
HP:0100765HP:0100765Abnormality of the tonsils0IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0100765HP:0100765Abnormality of the tonsils0IDUA CL E G H34255391ORPHA:93476Hurler-Scheie syndromeHP:0040281 - Very frequent115
HP:0100765HP:0100765Abnormality of the tonsils0IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0100765HP:0100765Abnormality of the tonsils0IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0100765HP:0100765Abnormality of the tonsils0IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0100765HP:0100765Abnormality of the tonsils0IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiency48
HP:0100765HP:0100765Abnormality of the tonsils0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0100765HP:0100765Abnormality of the tonsils0MPEG1 CL E G H21997229619OMIM:619223IMMUNODEFICIENCY 77; IMD77
HP:0100765HP:0100765Abnormality of the tonsils0MYO5A CL E G H46447602OMIM:214450Griscelli syndrome, type 135
HP:0100765HP:0100765Abnormality of the tonsils0PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 3643
HP:0100765HP:0100765Abnormality of the tonsils0RIPK1 CL E G H873710019OMIM:618852AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0100765HP:0100765Abnormality of the tonsils0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0100765HP:0100765Abnormality of the tonsils0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0100765HP:0100765Abnormality of the tonsils0SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 167
HP:0100765HP:0100765Abnormality of the tonsils0SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 161
HP:0100765HP:0100765Abnormality of the tonsils0SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 157
HP:0100765HP:0100765Abnormality of the tonsils0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0100765HP:0100765Abnormality of the tonsils0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0100765HP:0100765Abnormality of the tonsils0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0100765HP:0100765Abnormality of the tonsils0ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0100765HP:3000076Abnormality of lingual tonsil1 CL E G H
HP:0100765HP:0030814Orange discolored tonsils1ABCA1 CL E G H1929ORPHA:31150Tangier diseaseHP:0040282 - Frequent191
HP:0100765HP:0030813Absent tonsils1ADA CL E G H100186ORPHA:277Severe combined immunodeficiency due to adenosine deaminase deficiencyHP:0040282 - Frequent75
HP:0100765HP:0030812Enlarged tonsils1AKT2 CL E G H208392ORPHA:293964Hypoinsulinemic hypoglycemia and body hemihypertrophyHP:0040281 - Very frequent12
HP:0100765HP:0011110Recurrent tonsillitis1BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0100765HP:0011110Recurrent tonsillitis1C3 CL E G H7181318OMIM:613779Complement component 3 deficiency, autosomal recessive92
HP:0100765HP:0030812Enlarged tonsils1CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0100765HP:0030812Enlarged tonsils1CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM.33
HP:0100765HP:0011110Recurrent tonsillitis1CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0100765HP:0030813Absent tonsils1DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation.94
HP:0100765HP:0011110Recurrent tonsillitis1ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040282 - Frequent79
HP:0100765HP:3000033Abnormal nasopharyngeal adenoid morphology1IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0100765HP:0030812Enlarged tonsils1IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040282 - Frequent86
HP:0100765HP:3000033Abnormal nasopharyngeal adenoid morphology1IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0100765HP:0030812Enlarged tonsils1IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040282 - Frequent86
HP:0100765HP:0030812Enlarged tonsils1IDUA CL E G H34255391OMIM:607014Hurler syndrome.115
HP:0100765HP:0011110Recurrent tonsillitis1IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0100765HP:0011110Recurrent tonsillitis1IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0100765HP:0030812Enlarged tonsils1IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0100765HP:0030813Absent tonsils1IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040283 - Occasional48
HP:0100765HP:0011110Recurrent tonsillitis1MPEG1 CL E G H21997229619OMIM:619223IMMUNODEFICIENCY 77; IMD77
HP:0100765HP:0011110Recurrent tonsillitis1MYO5A CL E G H46447602OMIM:214450Griscelli syndrome, type 135
HP:0100765HP:0030812Enlarged tonsils1PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 3643
HP:0100765HP:0011110Recurrent tonsillitis1RIPK1 CL E G H873710019OMIM:618852AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0100765HP:3000033Abnormal nasopharyngeal adenoid morphology1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0100765HP:0011110Recurrent tonsillitis1SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional67
HP:0100765HP:0011110Recurrent tonsillitis1SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional61
HP:0100765HP:0011110Recurrent tonsillitis1SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional57
HP:0100765HP:3000033Abnormal nasopharyngeal adenoid morphology1ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0100765HP:0031458Adenoiditis2 CL E G H
HP:0100765HP:0040256Aplastic/Hypoplastic nasopharyngeal adenoids2 CL E G H
HP:0100765HP:0040257Abnormal size of nasopharyngeal adenoids2IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0100765HP:0040257Abnormal size of nasopharyngeal adenoids2IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0100765HP:0040257Abnormal size of nasopharyngeal adenoids2RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0100765HP:0040257Abnormal size of nasopharyngeal adenoids2ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0100765HP:0040260Decreased size of nasopharyngeal adenoids3 CL E G H
HP:0100765HP:0040259Aplastic nasopharyngeal adenoids3 CL E G H
HP:0100765HP:0040258Hypoplastic nasopharyngeal adenoids3 CL E G H
HP:0100765HP:0040261Increased size of nasopharyngeal adenoids3IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040282 - Frequent86
HP:0100765HP:0040261Increased size of nasopharyngeal adenoids3IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040282 - Frequent86
HP:0100765HP:0040261Increased size of nasopharyngeal adenoids3RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040282 - Frequent2
HP:0100765HP:0040261Increased size of nasopharyngeal adenoids3ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0100765HP:0040258Hypoplastic nasopharyngeal adenoids4 CL E G H


Genes (35) :ABCA1 ADA AKT2 ARVCF BLM BTK C3 CA2 CD40LG COMT CYBC1 DCLRE1C ELANE GP1BB HIRA IDS IDUA IGHG2 IGKC IL2RA IL2RG JMJD1C MPEG1 MYO5A PIK3R1 RIPK1 RREB1 RSPRY1 SCNN1A SCNN1B SCNN1G SEC24C TBX1 UFD1 ZBTB7A

Diseases (27) :ORPHA:31150 ORPHA:277 ORPHA:293964 ORPHA:567 ORPHA:125 ORPHA:47 OMIM:613779 ORPHA:2785 OMIM:308230 OMIM:618935 OMIM:602450 ORPHA:2686 ORPHA:217093 ORPHA:217085 ORPHA:93473 OMIM:607014 ORPHA:93476 ORPHA:183675 OMIM:606367 ORPHA:276 OMIM:619223 OMIM:214450 OMIM:616005 OMIM:618852 ORPHA:457395 ORPHA:171876 OMIM:619769
 

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