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:
Arteriovenous malformation (HP:0100026)

Parent Node:
Arteriovenous fistula (HP:0004947)

..Starting node
..Peripheral arteriovenous fistula (HP:0100784)

Term ID:

100784

Name:

Peripheral arteriovenous fistula

Synonym:

Definition:

Comments:

Reference:

HP:0100784

Genes and Diseases:

Child Nodes:

Sister Nodes:

Arteriovenous fistulas of celiac and mesenteric vessels (HP:0002642)

Pulmonary arteriovenous fistulas (HP:0004952)

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:0100784	HP:0100784	Peripheral arteriovenous fistula	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0100784	HP:0100784	Peripheral arteriovenous fistula	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional	1
HP:0100784	HP:0100784	Peripheral arteriovenous fistula	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0100784	HP:0100784	Peripheral arteriovenous fistula	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0100784	HP:0100784	Peripheral arteriovenous fistula	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional	3
HP:0100784	HP:0100784	Peripheral arteriovenous fistula	0	EPHB4 CL E G H	2050	3395	ORPHA:1053	Vein of Galen aneurysmal malformation	HP:0040282 - Frequent	3
HP:0100784	HP:0100784	Peripheral arteriovenous fistula	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0100784	HP:0100784	Peripheral arteriovenous fistula	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional	88
HP:0100784	HP:0100784	Peripheral arteriovenous fistula	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040282 - Frequent	88
HP:0100784	HP:0100784	Peripheral arteriovenous fistula	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504

Genes (8) :ACVRL1 AGGF1 COL3A1 ENG EPHB4 GDF2 RASA1 SMAD4

Diseases (6) :ORPHA:774 ORPHA:90308 ORPHA:286 ORPHA:137667 ORPHA:1053 ORPHA:90307

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