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

Grandparent Node:
Abnormal stomach morphology (HP:0002577)

Parent Node:
Abnormal gastric mucosa morphology (HP:0004295)

..Starting node
..Gastritis (HP:0005263)

Term ID:

5263

Name:

Gastritis

Synonym:

Stomach inflammation

Definition:

The presence of inflammation of the gastric mucous membrane.

Comments:

Reference:

HP:0005263

Genes and Diseases:

Child Nodes:

........

Chronic gastritis (HP:0005231)

................... HP:0002582 Chronic atrophic gastritis

........

Giant hypertrophic gastritis (HP:0005246)

........

Eosinophilic infiltration in the stomach mucosa (HP:0410147)

Sister Nodes:

Gastric ulcer (HP:0002592)

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:0005263	HP:0005263	Gastritis	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0005263	HP:0005263	Gastritis	0	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0005263	HP:0005263	Gastritis	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0005263	HP:0005263	Gastritis	0	CDH1 CL E G H	999	1748	OMIM:137215	Gastric cancer, hereditary diffuse		1003
HP:0005263	HP:0005263	Gastritis	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0005263	HP:0005263	Gastritis	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0005263	HP:0005263	Gastritis	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0005263	HP:0005263	Gastritis	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0005263	HP:0005263	Gastritis	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0005263	HP:0005263	Gastritis	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0005263	HP:0005263	Gastritis	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040284 - Very rare	32
HP:0005263	HP:0005263	Gastritis	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0005263	HP:0005263	Gastritis	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0005263	HP:0005263	Gastritis	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0005263	HP:0005263	Gastritis	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0005263	HP:0005263	Gastritis	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0005263	HP:0005263	Gastritis	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0005263	HP:0005263	Gastritis	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0005263	HP:0005263	Gastritis	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0005263	HP:0005263	Gastritis	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0005263	HP:0005263	Gastritis	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0005263	HP:0005263	Gastritis	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0005263	HP:0005263	Gastritis	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0005263	HP:0410147	Eosinophilic infiltration in the stomach mucosa	1	CL E G H
HP:0005263	HP:0005246	Giant hypertrophic gastritis	1	CL E G H
HP:0005263	HP:0002582	Atrophic gastritis	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0005263	HP:0002582	Atrophic gastritis	1	CDH1 CL E G H	999	1748	OMIM:137215	Gastric cancer, hereditary diffuse	.	1003
HP:0005263	HP:0002582	Atrophic gastritis	1	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0005263	HP:0002582	Atrophic gastritis	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0005263	HP:0005231	Chronic gastritis	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0005263	HP:0005231	Chronic gastritis	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0005263	HP:0002582	Atrophic gastritis	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0005263	HP:0005231	Chronic gastritis	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0005263	HP:0005231	Chronic gastritis	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0005263	HP:0005231	Chronic gastritis	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0005263	HP:0002582	Atrophic gastritis	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0005263	HP:0002582	Atrophic gastritis	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7

Genes (23) :AIRE CARD8 CASP10 CDH1 CTLA4 DEF6 ELF4 FAS FASLG FOCAD FOXP3 IFIH1 IGHG2 IGKC IPO8 LRBA NFKB1 PRKCD RASGRP1 RIPK1 SKIC2 SKIC3 SYK

Diseases (17) :OMIM:240300 OMIM:619079 ORPHA:3261 OMIM:137215 OMIM:616100 OMIM:619573 OMIM:301074 OMIM:619991 ORPHA:37042 OMIM:615846 ORPHA:183675 OMIM:619472 OMIM:614700 OMIM:616576 OMIM:618108 ORPHA:84064 OMIM:619381

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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