Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100765	HP:0100765	Abnormality of the tonsils	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease		191
HP:0100765	HP:0100765	Abnormality of the tonsils	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0100765	HP:0100765	Abnormality of the tonsils	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy		12
HP:0100765	HP:0100765	Abnormality of the tonsils	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0100765	HP:0100765	Abnormality of the tonsils	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0100765	HP:0100765	Abnormality of the tonsils	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent	109
HP:0100765	HP:0100765	Abnormality of the tonsils	0	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive		92
HP:0100765	HP:0100765	Abnormality of the tonsils	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0100765	HP:0100765	Abnormality of the tonsils	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0100765	HP:0100765	Abnormality of the tonsils	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0100765	HP:0100765	Abnormality of the tonsils	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0100765	HP:0100765	Abnormality of the tonsils	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0100765	HP:0100765	Abnormality of the tonsils	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0100765	HP:0100765	Abnormality of the tonsils	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0100765	HP:0100765	Abnormality of the tonsils	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0100765	HP:0100765	Abnormality of the tonsils	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0100765	HP:0100765	Abnormality of the tonsils	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0100765	HP:0100765	Abnormality of the tonsils	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0100765	HP:0100765	Abnormality of the tonsils	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent	115
HP:0100765	HP:0100765	Abnormality of the tonsils	0	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome	HP:0040281 - Very frequent	115
HP:0100765	HP:0100765	Abnormality of the tonsils	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0100765	HP:0100765	Abnormality of the tonsils	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0100765	HP:0100765	Abnormality of the tonsils	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0100765	HP:0100765	Abnormality of the tonsils	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0100765	HP:0100765	Abnormality of the tonsils	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0100765	HP:0100765	Abnormality of the tonsils	0	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0100765	HP:0100765	Abnormality of the tonsils	0	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1		35
HP:0100765	HP:0100765	Abnormality of the tonsils	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0100765	HP:0100765	Abnormality of the tonsils	0	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0100765	HP:0100765	Abnormality of the tonsils	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0100765	HP:0100765	Abnormality of the tonsils	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0100765	HP:0100765	Abnormality of the tonsils	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		67
HP:0100765	HP:0100765	Abnormality of the tonsils	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		61
HP:0100765	HP:0100765	Abnormality of the tonsils	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		57
HP:0100765	HP:0100765	Abnormality of the tonsils	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0100765	HP:0100765	Abnormality of the tonsils	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0100765	HP:0100765	Abnormality of the tonsils	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0100765	HP:0100765	Abnormality of the tonsils	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0100765	HP:3000076	Abnormality of lingual tonsil	1	CL E G H
HP:0100765	HP:0030814	Orange discolored tonsils	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040282 - Frequent	191
HP:0100765	HP:0030813	Absent tonsils	1	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0100765	HP:0030812	Enlarged tonsils	1	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent	12
HP:0100765	HP:0011110	Recurrent tonsillitis	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0100765	HP:0011110	Recurrent tonsillitis	1	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive		92
HP:0100765	HP:0030812	Enlarged tonsils	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0100765	HP:0030812	Enlarged tonsils	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.	33
HP:0100765	HP:0011110	Recurrent tonsillitis	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0100765	HP:0030813	Absent tonsils	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation	.	94
HP:0100765	HP:0011110	Recurrent tonsillitis	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040282 - Frequent	79
HP:0100765	HP:0030812	Enlarged tonsils	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0100765	HP:3000033	Abnormal nasopharyngeal adenoid morphology	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0100765	HP:0030812	Enlarged tonsils	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0100765	HP:3000033	Abnormal nasopharyngeal adenoid morphology	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0100765	HP:0030812	Enlarged tonsils	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0100765	HP:0011110	Recurrent tonsillitis	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0100765	HP:0011110	Recurrent tonsillitis	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0100765	HP:0030812	Enlarged tonsils	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0100765	HP:0030813	Absent tonsils	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040283 - Occasional	48
HP:0100765	HP:0011110	Recurrent tonsillitis	1	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0100765	HP:0011110	Recurrent tonsillitis	1	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1		35
HP:0100765	HP:0030812	Enlarged tonsils	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0100765	HP:0011110	Recurrent tonsillitis	1	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0100765	HP:3000033	Abnormal nasopharyngeal adenoid morphology	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0100765	HP:0011110	Recurrent tonsillitis	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional	67
HP:0100765	HP:0011110	Recurrent tonsillitis	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional	61
HP:0100765	HP:0011110	Recurrent tonsillitis	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional	57
HP:0100765	HP:3000033	Abnormal nasopharyngeal adenoid morphology	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0100765	HP:0040256	Aplastic/Hypoplastic nasopharyngeal adenoids	2	CL E G H
HP:0100765	HP:0031458	Adenoiditis	2	CL E G H
HP:0100765	HP:0040257	Abnormal size of nasopharyngeal adenoids	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0100765	HP:0040257	Abnormal size of nasopharyngeal adenoids	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0100765	HP:0040257	Abnormal size of nasopharyngeal adenoids	2	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0100765	HP:0040257	Abnormal size of nasopharyngeal adenoids	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0100765	HP:0040258	Hypoplastic nasopharyngeal adenoids	3	CL E G H
HP:0100765	HP:0040260	Decreased size of nasopharyngeal adenoids	3	CL E G H
HP:0100765	HP:0040259	Aplastic nasopharyngeal adenoids	3	CL E G H
HP:0100765	HP:0040261	Increased size of nasopharyngeal adenoids	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0100765	HP:0040261	Increased size of nasopharyngeal adenoids	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0100765	HP:0040261	Increased size of nasopharyngeal adenoids	3	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0100765	HP:0040261	Increased size of nasopharyngeal adenoids	3	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0100765	HP:0040258	Hypoplastic nasopharyngeal adenoids	4	CL E G H