Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

..Starting node
..Abnormal eosinophil count (HP:0020064)

Term ID:

20064

Name:

Abnormal eosinophil count

Synonym:

Definition:

Any deviation from the normal number of eosinophils per volume in the blood circulation.

Comments:

Reference:

HP:0020064

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0020064	HP:0020064	Abnormal eosinophil count	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome		75
HP:0020064	HP:0020064	Abnormal eosinophil count	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0020064	HP:0020064	Abnormal eosinophil count	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0020064	HP:0020064	Abnormal eosinophil count	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0020064	HP:0020064	Abnormal eosinophil count	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0020064	HP:0020064	Abnormal eosinophil count	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0020064	HP:0020064	Abnormal eosinophil count	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0020064	HP:0020064	Abnormal eosinophil count	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0020064	HP:0020064	Abnormal eosinophil count	0	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0020064	HP:0020064	Abnormal eosinophil count	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0020064	HP:0020064	Abnormal eosinophil count	0	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis		45
HP:0020064	HP:0020064	Abnormal eosinophil count	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0020064	HP:0020064	Abnormal eosinophil count	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0020064	HP:0020064	Abnormal eosinophil count	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0020064	HP:0020064	Abnormal eosinophil count	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0020064	HP:0020064	Abnormal eosinophil count	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0020064	HP:0020064	Abnormal eosinophil count	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0020064	HP:0020064	Abnormal eosinophil count	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0020064	HP:0020064	Abnormal eosinophil count	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0020064	HP:0020064	Abnormal eosinophil count	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0020064	HP:0020064	Abnormal eosinophil count	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome		515
HP:0020064	HP:0020064	Abnormal eosinophil count	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0020064	HP:0020064	Abnormal eosinophil count	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome		94
HP:0020064	HP:0020064	Abnormal eosinophil count	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0020064	HP:0020064	Abnormal eosinophil count	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0020064	HP:0020064	Abnormal eosinophil count	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0020064	HP:0020064	Abnormal eosinophil count	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0020064	HP:0020064	Abnormal eosinophil count	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0020064	HP:0020064	Abnormal eosinophil count	0	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0020064	HP:0020064	Abnormal eosinophil count	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0020064	HP:0020064	Abnormal eosinophil count	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0020064	HP:0020064	Abnormal eosinophil count	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0020064	HP:0020064	Abnormal eosinophil count	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0020064	HP:0020064	Abnormal eosinophil count	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0020064	HP:0020064	Abnormal eosinophil count	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0020064	HP:0020064	Abnormal eosinophil count	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0020064	HP:0020064	Abnormal eosinophil count	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0020064	HP:0020064	Abnormal eosinophil count	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0020064	HP:0020064	Abnormal eosinophil count	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0020064	HP:0020064	Abnormal eosinophil count	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0020064	HP:0020064	Abnormal eosinophil count	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome		48
HP:0020064	HP:0020064	Abnormal eosinophil count	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0020064	HP:0020064	Abnormal eosinophil count	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome		94
HP:0020064	HP:0020064	Abnormal eosinophil count	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0020064	HP:0020064	Abnormal eosinophil count	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0020064	HP:0020064	Abnormal eosinophil count	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0020064	HP:0020064	Abnormal eosinophil count	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0020064	HP:0020064	Abnormal eosinophil count	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0020064	HP:0020064	Abnormal eosinophil count	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome		88
HP:0020064	HP:0020064	Abnormal eosinophil count	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0020064	HP:0020064	Abnormal eosinophil count	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0020064	HP:0020064	Abnormal eosinophil count	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0020064	HP:0020064	Abnormal eosinophil count	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0020064	HP:0020064	Abnormal eosinophil count	0	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0020064	HP:0020064	Abnormal eosinophil count	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0020064	HP:0020064	Abnormal eosinophil count	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0020064	HP:0020064	Abnormal eosinophil count	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0020064	HP:0020064	Abnormal eosinophil count	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0020064	HP:0020064	Abnormal eosinophil count	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0020064	HP:0020064	Abnormal eosinophil count	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome		127
HP:0020064	HP:0020064	Abnormal eosinophil count	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0020064	HP:0020064	Abnormal eosinophil count	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome		50
HP:0020064	HP:0020064	Abnormal eosinophil count	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0020064	HP:0020064	Abnormal eosinophil count	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0020064	HP:0020064	Abnormal eosinophil count	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0020064	HP:0020064	Abnormal eosinophil count	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0020064	HP:0020064	Abnormal eosinophil count	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome		37
HP:0020064	HP:0020064	Abnormal eosinophil count	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0020064	HP:0020064	Abnormal eosinophil count	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0020064	HP:0020064	Abnormal eosinophil count	0	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome		26
HP:0020064	HP:0020064	Abnormal eosinophil count	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0020064	HP:0020064	Abnormal eosinophil count	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0020064	HP:0020064	Abnormal eosinophil count	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0020064	HP:0020064	Abnormal eosinophil count	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0020064	HP:0020064	Abnormal eosinophil count	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0020064	HP:0020064	Abnormal eosinophil count	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0020064	HP:0020064	Abnormal eosinophil count	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0020064	HP:0020064	Abnormal eosinophil count	0	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0020064	HP:0020064	Abnormal eosinophil count	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0020064	HP:0020064	Abnormal eosinophil count	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0020064	HP:0020064	Abnormal eosinophil count	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0020064	HP:0020064	Abnormal eosinophil count	0	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0020064	HP:0020064	Abnormal eosinophil count	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0020064	HP:0020064	Abnormal eosinophil count	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0020064	HP:0020064	Abnormal eosinophil count	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0020064	HP:0020064	Abnormal eosinophil count	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0020064	HP:0020064	Abnormal eosinophil count	0	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0020064	HP:0001880	Eosinophilia	1	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	75
HP:0020064	HP:0001880	Eosinophilia	1	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0020064	HP:0001880	Eosinophilia	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0020064	HP:0031891	Decreased eosinophil count	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0020064	HP:0001880	Eosinophilia	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0020064	HP:0001880	Eosinophilia	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	HP:0040284 - Very rare	3
HP:0020064	HP:0031891	Decreased eosinophil count	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0020064	HP:0001880	Eosinophilia	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare	1
HP:0020064	HP:0001880	Eosinophilia	1	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A	.	323
HP:0020064	HP:0031891	Decreased eosinophil count	1	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0020064	HP:0001880	Eosinophilia	1	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis	.	45
HP:0020064	HP:0001880	Eosinophilia	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0020064	HP:0001880	Eosinophilia	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0020064	HP:0001880	Eosinophilia	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0020064	HP:0001880	Eosinophilia	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0020064	HP:0001880	Eosinophilia	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0020064	HP:0001880	Eosinophilia	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0020064	HP:0001880	Eosinophilia	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0020064	HP:0031891	Decreased eosinophil count	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0020064	HP:0001880	Eosinophilia	1	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0020064	HP:0001880	Eosinophilia	1	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	515
HP:0020064	HP:0001880	Eosinophilia	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0020064	HP:0001880	Eosinophilia	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0020064	HP:0001880	Eosinophilia	1	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0020064	HP:0001880	Eosinophilia	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0020064	HP:0001880	Eosinophilia	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0020064	HP:0001880	Eosinophilia	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0020064	HP:0031891	Decreased eosinophil count	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional	79
HP:0020064	HP:0001880	Eosinophilia	1	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0020064	HP:0001880	Eosinophilia	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0020064	HP:0001880	Eosinophilia	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0020064	HP:0001880	Eosinophilia	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0020064	HP:0001880	Eosinophilia	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0020064	HP:0001880	Eosinophilia	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0020064	HP:0001880	Eosinophilia	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0020064	HP:0001880	Eosinophilia	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0020064	HP:0001880	Eosinophilia	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0020064	HP:0001880	Eosinophilia	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare	2
HP:0020064	HP:0001880	Eosinophilia	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent	52
HP:0020064	HP:0001880	Eosinophilia	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0020064	HP:0001880	Eosinophilia	1	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	48
HP:0020064	HP:0001880	Eosinophilia	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0020064	HP:0001880	Eosinophilia	1	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0020064	HP:0001880	Eosinophilia	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0020064	HP:0001880	Eosinophilia	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0020064	HP:0001880	Eosinophilia	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0020064	HP:0001880	Eosinophilia	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0020064	HP:0001880	Eosinophilia	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0020064	HP:0001880	Eosinophilia	1	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	88
HP:0020064	HP:0001880	Eosinophilia	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0020064	HP:0001880	Eosinophilia	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0020064	HP:0031891	Decreased eosinophil count	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0020064	HP:0001880	Eosinophilia	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0020064	HP:0001880	Eosinophilia	1	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia	.	28
HP:0020064	HP:0001880	Eosinophilia	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0020064	HP:0001880	Eosinophilia	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0020064	HP:0001880	Eosinophilia	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0020064	HP:0001880	Eosinophilia	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0020064	HP:0001880	Eosinophilia	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0020064	HP:0001880	Eosinophilia	1	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	127
HP:0020064	HP:0001880	Eosinophilia	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	127
HP:0020064	HP:0001880	Eosinophilia	1	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	50
HP:0020064	HP:0001880	Eosinophilia	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0020064	HP:0001880	Eosinophilia	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	50
HP:0020064	HP:0001880	Eosinophilia	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0020064	HP:0001880	Eosinophilia	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0020064	HP:0001880	Eosinophilia	1	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	37
HP:0020064	HP:0001880	Eosinophilia	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0020064	HP:0001880	Eosinophilia	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0020064	HP:0001880	Eosinophilia	1	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome	HP:0040281 - Very frequent	26
HP:0020064	HP:0001880	Eosinophilia	1	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040283 - Occasional	101
HP:0020064	HP:0001880	Eosinophilia	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0020064	HP:0001880	Eosinophilia	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0020064	HP:0001880	Eosinophilia	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0020064	HP:0001880	Eosinophilia	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0020064	HP:0001880	Eosinophilia	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent	110
HP:0020064	HP:0001880	Eosinophilia	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0020064	HP:0001880	Eosinophilia	1	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0020064	HP:0001880	Eosinophilia	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0020064	HP:0001880	Eosinophilia	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0020064	HP:0031891	Decreased eosinophil count	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0020064	HP:0001880	Eosinophilia	1	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0020064	HP:0031891	Decreased eosinophil count	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0020064	HP:0031891	Decreased eosinophil count	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0020064	HP:0001880	Eosinophilia	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0020064	HP:0001880	Eosinophilia	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0020064	HP:0001880	Eosinophilia	1	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	HP:0040284 - Very rare	1
HP:0020064	HP:0032151	Episodic eosinophilia	2	CL E G H
HP:0020064	HP:0032061	Hypereosinophilia	2	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0020064	HP:0032061	Hypereosinophilia	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0020064	HP:0032061	Hypereosinophilia	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0020064	HP:0032061	Hypereosinophilia	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0020064	HP:0032061	Hypereosinophilia	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0020064	HP:0032061	Hypereosinophilia	2	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY	.	1

Genes (67) :ADA ASXL1 ATRX BCL11B BRAF BTNL2 CAPN3 CARD10 CARD11 CARD9 CASP10 CD247 CD3D CD3E CDH23 CDSN CHD7 CLPB DCLRE1C DOCK8 ELANE EXTL3 FAS FASLG FOXP3 GFI1 HLA-DRB1 IKBKG IL2RG IL6ST IL7R IPO8 IRF8 JAK1 KIT LIG4 NLRP1 NLRP3 NR3C1 PDGFRA PDGFRB PGM3 PIK3CG PRKCD RAG1 RAG2 RASGRP1 RBM8A RMRP RNU4ATAC SLC27A4 SLC46A1 SPINK5 SREBF1 SRP54 SRSF2 STAT3 TBX21 TCIRG1 TET2 TP53 TRAC USP48 USP8 WAS ZAP70 ZNF341

Diseases (55) :ORPHA:39041 OMIM:102700 ORPHA:98849 ORPHA:96253 OMIM:617237 OMIM:618092 ORPHA:797 OMIM:253600 OMIM:619632 OMIM:617638 OMIM:212050 ORPHA:3261 OMIM:603909 OMIM:610163 ORPHA:169160 OMIM:270300 ORPHA:486 OMIM:603554 OMIM:602450 OMIM:243700 ORPHA:2686 OMIM:202700 OMIM:617425 ORPHA:508533 OMIM:601859 OMIM:304790 OMIM:308300 ORPHA:464 OMIM:618523 ORPHA:169154 OMIM:619472 OMIM:226990 OMIM:618999 OMIM:617388 OMIM:607115 OMIM:607685 OMIM:131440 OMIM:615816 ORPHA:443811 OMIM:619802 ORPHA:331206 OMIM:274000 ORPHA:353298 OMIM:616651 ORPHA:88621 ORPHA:90045 OMIM:256500 OMIM:158310 ORPHA:2314 OMIM:147060 OMIM:619630 OMIM:615387 OMIM:301000 ORPHA:911 OMIM:618282

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

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