Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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)

Parent Node:
Esophageal stenosis (HP:0010450)

..Starting node
..Esophageal stricture (HP:0002043)

Term ID:

2043

Name:

Esophageal stricture

Synonym:

Narrowing of esophagus due to inflammation and scar tissue; Narrowing of oesophagus due to inflammation and scar tissue

Definition:

A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.

Comments:

Reference:

HP:0002043

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:0002043	HP:0002043	Esophageal stricture	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent	263
HP:0002043	HP:0002043	Esophageal stricture	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	263
HP:0002043	HP:0002043	Esophageal stricture	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent	263
HP:0002043	HP:0002043	Esophageal stricture	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040283 - Occasional	263
HP:0002043	HP:0002043	Esophageal stricture	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0002043	HP:0002043	Esophageal stricture	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent	136
HP:0002043	HP:0002043	Esophageal stricture	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0002043	HP:0002043	Esophageal stricture	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0002043	HP:0002043	Esophageal stricture	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0002043	HP:0002043	Esophageal stricture	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0002043	HP:0002043	Esophageal stricture	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0002043	HP:0002043	Esophageal stricture	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	6
HP:0002043	HP:0002043	Esophageal stricture	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0002043	HP:0002043	Esophageal stricture	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	27
HP:0002043	HP:0002043	Esophageal stricture	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	17
HP:0002043	HP:0002043	Esophageal stricture	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0002043	HP:0002043	Esophageal stricture	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	HP:0040283 - Occasional	8
HP:0002043	HP:0002043	Esophageal stricture	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238

Genes (15) :COL7A1 DKC1 FERMT1 HLA-B IKZF1 LAMA3 LAMB3 LAMC2 MMP1 MYH11 NHP2 NOP10 PGM3 SAMD9 TERT

Diseases (13) :ORPHA:89842 OMIM:226600 ORPHA:158673 ORPHA:79409 OMIM:305000 ORPHA:2908 ORPHA:36426 ORPHA:79404 OMIM:619350 OMIM:224230 OMIM:615816 OMIM:617053 OMIM:613989

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen