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)

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
..Esophageal carcinoma (HP:0011459)

Term ID:

11459

Name:

Esophageal carcinoma

Synonym:

Definition:

The presence of a carcinoma of the esophagus.

Comments:

Reference:

HP:0011459

Genes and Diseases:

Child Nodes:

Sister Nodes:

Barrett esophagus (HP:0100580)

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:0011459	HP:0011459	Esophageal carcinoma	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0011459	HP:0011459	Esophageal carcinoma	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare	3179
HP:0011459	HP:0011459	Esophageal carcinoma	0	ASCC1 CL E G H	51008	24268	OMIM:614266	Barrett esophagus	.	2
HP:0011459	HP:0011459	Esophageal carcinoma	0	CTHRC1 CL E G H	115908	18831	OMIM:614266	Barrett esophagus	.	1
HP:0011459	HP:0011459	Esophageal carcinoma	0	DCC CL E G H	1630	2701	OMIM:133239	Esophageal cancer, somatic	.	36
HP:0011459	HP:0011459	Esophageal carcinoma	0	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040281 - Very frequent
HP:0011459	HP:0011459	Esophageal carcinoma	0	LZTS1 CL E G H	11178	13861	OMIM:133239	Esophageal cancer, somatic	.	2
HP:0011459	HP:0011459	Esophageal carcinoma	0	MSR1 CL E G H	4481	7376	OMIM:614266	Barrett esophagus	.	13
HP:0011459	HP:0011459	Esophageal carcinoma	0	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer	.	80
HP:0011459	HP:0011459	Esophageal carcinoma	0	RNF6 CL E G H	6049	10069	OMIM:133239	Esophageal cancer, somatic	.	3
HP:0011459	HP:0011459	Esophageal carcinoma	0	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040281 - Very frequent	3
HP:0011459	HP:0011459	Esophageal carcinoma	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional	89
HP:0011459	HP:0011459	Esophageal carcinoma	0	TGFBR2 CL E G H	7048	11773	OMIM:133239	Esophageal cancer, somatic	.	253
HP:0011459	HP:0011459	Esophageal carcinoma	0	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040281 - Very frequent	253
HP:0011459	HP:0011459	Esophageal carcinoma	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0011459	HP:0011459	Esophageal carcinoma	0	WWOX CL E G H	51741	12799	OMIM:133239	Esophageal cancer, somatic	.	149
HP:0011459	HP:0011459	Esophageal carcinoma	0	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040281 - Very frequent	149

Genes (13) :APC ASCC1 CTHRC1 DCC DLEC1 LZTS1 MSR1 RHBDF2 RNF6 STAT1 TGFBR2 TOM1 WWOX

Diseases (7) :ORPHA:247806 ORPHA:79665 OMIM:614266 OMIM:133239 ORPHA:99977 OMIM:148500 ORPHA:391487

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