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
..Gastrointestinal eosinophilia (HP:0032064)

Term ID:

32064

Name:

Gastrointestinal eosinophilia

Synonym:

Eosinophilic enteritis; Eosinophilic gastroenteritis; Eosinophilic gastrointestinal disease; Eosinophilic gastrointestinal disorders; GI eosinophilia

Definition:

Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them.

Comments:

Reference:

HP:0032064

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032064	HP:0032064	Gastrointestinal eosinophilia	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0032064	HP:0032064	Gastrointestinal eosinophilia	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	217
HP:0032064	HP:0032064	Gastrointestinal eosinophilia	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE	12
HP:0032064	HP:0032064	Gastrointestinal eosinophilia	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3	260
HP:0032064	HP:0032064	Gastrointestinal eosinophilia	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	89
HP:0032064	HP:0032064	Gastrointestinal eosinophilia	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE	13
HP:0032064	HP:0032064	Gastrointestinal eosinophilia	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4	162
HP:0032064	HP:0032064	Gastrointestinal eosinophilia	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5	85
HP:0032064	HP:0032064	Gastrointestinal eosinophilia	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1	239
HP:0032064	HP:0032064	Gastrointestinal eosinophilia	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	253
HP:0032064	HP:0410147	Eosinophilic infiltration in the stomach mucosa	1	CL E G H
HP:0032064	HP:0032023	Eosinophilic gallbladder infiltration	1	CL E G H
HP:0032064	HP:0031780	Eosinophilic ascites	1	CL E G H
HP:0032064	HP:0031813	Colonic eosinophilia	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0032064	HP:0410151	Eosinophilic infiltration of the esophagus	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	217
HP:0032064	HP:0032021	Eosinophilic liver infiltration	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE	12
HP:0032064	HP:0031813	Colonic eosinophilia	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE	12
HP:0032064	HP:0410151	Eosinophilic infiltration of the esophagus	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3	260
HP:0032064	HP:0410151	Eosinophilic infiltration of the esophagus	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE	13
HP:0032064	HP:0410151	Eosinophilic infiltration of the esophagus	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4	162
HP:0032064	HP:0410151	Eosinophilic infiltration of the esophagus	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5	85
HP:0032064	HP:0410151	Eosinophilic infiltration of the esophagus	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1	239
HP:0032064	HP:0410151	Eosinophilic infiltration of the esophagus	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	253

Genes (10) :ARPC1B DOCK8 JAK1 SMAD3 STAT1 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2

Diseases (10) :OMIM:617718 OMIM:243700 OMIM:618999 OMIM:613795 OMIM:614162 OMIM:618213 OMIM:614816 OMIM:615582 OMIM:609192 OMIM:610168

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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