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 bleeding (HP:0001892)

Grandparent Node:
Abnormality of the nose (HP:0000366)

Parent Node:
Epistaxis (HP:0000421)

..Starting node
..Spontaneous, recurrent epistaxis (HP:0004406)

Term ID:

4406

Name:

Spontaneous, recurrent epistaxis

Synonym:

Recurrent epistaxes; Recurrent epistaxis; Recurring nosebleed; Spontaneous, recurrent nosebleed

Definition:

Comments:

Reference:

HP:0004406

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004406	HP:0004406	Spontaneous, recurrent epistaxis	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	HP:0011463 - Childhood onset	178
HP:0004406	HP:0004406	Spontaneous, recurrent epistaxis	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	HP:0003621 - Juvenile onset	186
HP:0004406	HP:0004406	Spontaneous, recurrent epistaxis	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0004406	HP:0004406	Spontaneous, recurrent epistaxis	0	GDF2 CL E G H	2658	4217	OMIM:615506	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5			8
HP:0004406	HP:0004406	Spontaneous, recurrent epistaxis	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent		23
HP:0004406	HP:0004406	Spontaneous, recurrent epistaxis	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent		8
HP:0004406	HP:0004406	Spontaneous, recurrent epistaxis	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent		21
HP:0004406	HP:0004406	Spontaneous, recurrent epistaxis	0	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0004406	HP:0004406	Spontaneous, recurrent epistaxis	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040281 - Very frequent		69
HP:0004406	HP:0004406	Spontaneous, recurrent epistaxis	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040281 - Very frequent		80
HP:0004406	HP:0004406	Spontaneous, recurrent epistaxis	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0004406	HP:0004406	Spontaneous, recurrent epistaxis	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040282 - Frequent		297
HP:0004406	HP:0004406	Spontaneous, recurrent epistaxis	0	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6			15

Genes (13) :ACVRL1 ENG GBA1 GDF2 GP1BA GP1BB GP9 HPS3 ITGA2B ITGB3 LYST MYH9 SRC

Diseases (10) :OMIM:600376 OMIM:187300 ORPHA:2072 OMIM:615506 ORPHA:274 OMIM:614072 ORPHA:849 OMIM:214500 ORPHA:182050 OMIM:616937

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