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 esophagus morphology (HP:0002031)

Grandparent Node:
Neoplasm of head and neck (HP:0012288)

Grandparent Node:
Neoplasm of the gastrointestinal tract (HP:0007378)

Parent Node:
Esophageal neoplasm (HP:0100751)

..Starting node
..Barrett esophagus (HP:0100580)

Term ID:

100580

Name:

Barrett esophagus

Synonym:

Barret syndrome; Barrett oesophagus; Barrett's esophagus; Barrett's oesophagus; Endobrachyesophagus

Definition:

An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system.

Comments:

Reference:

HP:0100580

Genes and Diseases:

Child Nodes:

Sister Nodes:

Esophageal carcinoma (HP:0011459)

Esophageal squamous papilloma (HP:0031463)

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:0100580	HP:0100580	Barrett esophagus	0	ASCC1 CL E G H	51008	24268	OMIM:614266	Barrett esophagus	.	2
HP:0100580	HP:0100580	Barrett esophagus	0	CTHRC1 CL E G H	115908	18831	OMIM:614266	Barrett esophagus	.	1
HP:0100580	HP:0100580	Barrett esophagus	0	FH CL E G H	2271	3700	ORPHA:523	Hereditary leiomyomatosis and renal cell cancer	HP:0040283 - Occasional	301
HP:0100580	HP:0100580	Barrett esophagus	0	MSR1 CL E G H	4481	7376	OMIM:614266	Barrett esophagus	.	13
HP:0100580	HP:0100580	Barrett esophagus	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0100580	HP:0100580	Barrett esophagus	0	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome	.	25

Genes (6) :ASCC1 CTHRC1 FH MSR1 MYH11 RAD21

Diseases (4) :OMIM:614266 ORPHA:523 OMIM:619350 OMIM:611376

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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