Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abnormal esophagus morphology (HP:0002031)

Grandparent Node:
Gastrointestinal inflammation (HP:0004386)

Parent Node:
Esophagitis (HP:0100633)

..Starting node
..Eosinophilic infiltration of the esophagus (HP:0410151)

Term ID:

410151

Name:

Eosinophilic infiltration of the esophagus

Synonym:

Eosinophilic esophagitis; Eosinophilic infiltration of the oesophagus

Definition:

Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.

Comments:

Reference:

HP:0410151

Genes and Diseases:

Child Nodes:

Sister Nodes:

Eosinophilic microabscess formation in the esophagus (HP:0410152)

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:0410151	HP:0410151	Eosinophilic infiltration of the esophagus	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	217
HP:0410151	HP:0410151	Eosinophilic infiltration of the esophagus	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3	260
HP:0410151	HP:0410151	Eosinophilic infiltration of the esophagus	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE	13
HP:0410151	HP:0410151	Eosinophilic infiltration of the esophagus	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4	162
HP:0410151	HP:0410151	Eosinophilic infiltration of the esophagus	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5	85
HP:0410151	HP:0410151	Eosinophilic infiltration of the esophagus	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1	239
HP:0410151	HP:0410151	Eosinophilic infiltration of the esophagus	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	253

Genes (7) :DOCK8 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2

Diseases (7) :OMIM:243700 OMIM:613795 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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