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:
Morphological abnormality of the gastrointestinal tract (HP:0012718)

Parent Node:
Abnormal esophagus morphology (HP:0002031)

..Starting node
..Esophageal ulceration (HP:0004791)

Term ID:

4791

Name:

Esophageal ulceration

Synonym:

Esophagus ulcer; Oesophagus ulcer; Oesophagus ulceration

Definition:

Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.

Comments:

Reference:

HP:0004791

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute esophageal necrosis (HP:0011128)

Esophageal atresia (HP:0002032)

Esophageal diverticulum (HP:0100628)

Esophageal duplication (HP:0100681)

Esophageal furrows (HP:0031858)

Esophageal leukoplakia (HP:0012859)

Esophageal neoplasm (HP:0100751)

Esophageal obstruction (HP:0005240)

Esophageal stenosis (HP:0010450)

Esophageal varix (HP:0002040)

Esophageal web (HP:0100594)

Esophagitis (HP:0100633)

Spontaneous esophageal perforation (HP:0005203)

Tracheoesophageal fistula (HP:0002575)

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:0004791	HP:0004791	Esophageal ulceration	0	ASCC1 CL E G H	51008	24268	OMIM:614266	Barrett esophagus		2
HP:0004791	HP:0004791	Esophageal ulceration	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0004791	HP:0004791	Esophageal ulceration	0	CTHRC1 CL E G H	115908	18831	OMIM:614266	Barrett esophagus		1
HP:0004791	HP:0004791	Esophageal ulceration	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0004791	HP:0004791	Esophageal ulceration	0	MSR1 CL E G H	4481	7376	OMIM:614266	Barrett esophagus		13
HP:0004791	HP:0004791	Esophageal ulceration	0	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2

Genes (6) :ASCC1 COL7A1 CTHRC1 MMP1 MSR1 PLA2G4A

Diseases (3) :OMIM:614266 ORPHA:79408 OMIM:618372

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.