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:
Gastritis (HP:0005263)

Parent Node:
Chronic gastritis (HP:0005231)

..Starting node
..Atrophic gastritis (HP:0002582)

Term ID:

2582

Name:

Atrophic gastritis

Synonym:

Chronic atrophic gastritis

Definition:

Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue.

Comments:

Reference:

HP:0002582

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:0002582	HP:0002582	Atrophic 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:0002582	HP:0002582	Atrophic gastritis	0	CDH1 CL E G H	999	1748	OMIM:137215	Gastric cancer, hereditary diffuse	.	1003
HP:0002582	HP:0002582	Atrophic gastritis	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0002582	HP:0002582	Atrophic gastritis	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002582	HP:0002582	Atrophic gastritis	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0002582	HP:0002582	Atrophic gastritis	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002582	HP:0002582	Atrophic gastritis	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7

Genes (7) :AIRE CDH1 CTLA4 DEF6 IFIH1 LRBA NFKB1

Diseases (7) :OMIM:240300 OMIM:137215 OMIM:616100 OMIM:619573 OMIM:615846 OMIM:614700 OMIM:616576

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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