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:
Abnormality of the neck (HP:0000464)

Parent Node:
Branchial anomaly (HP:0009794)

..Starting node
..Branchial fistula (HP:0009795)

Term ID:

9795

Name:

Branchial fistula

Synonym:

Branchial cleft fistula

Definition:

A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.

Comments:

Reference:

HP:0009795

Genes and Diseases:

Child Nodes:

Sister Nodes:

Branchial cyst (HP:0009796)

Branchial sinus (HP:0100272)

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:0009795	HP:0009795	Branchial fistula	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0009795	HP:0009795	Branchial fistula	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0009795	HP:0009795	Branchial fistula	0	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent	135
HP:0009795	HP:0009795	Branchial fistula	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0009795	HP:0009795	Branchial fistula	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0009795	HP:0009795	Branchial fistula	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0009795	HP:0009795	Branchial fistula	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0009795	HP:0009795	Branchial fistula	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0009795	HP:0009795	Branchial fistula	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0009795	HP:0009795	Branchial fistula	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0009795	HP:0009795	Branchial fistula	0	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent	50
HP:0009795	HP:0009795	Branchial fistula	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0009795	HP:0009795	Branchial fistula	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140

Genes (10) :BCR CRKL EYA1 MAPK1 POLR1B POLR1C POLR1D SIN3A SIX1 TCOF1

Diseases (6) :ORPHA:261330 ORPHA:52429 OMIM:602588 OMIM:113650 ORPHA:861 OMIM:613406

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