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

CHLA_Logo

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

Human Phenotype Ontology

Grandparent Node:
Abnormal platelet aggregation (HP:0030402)

help

Parent Node:
Impaired platelet aggregation (HP:0003540)

help

..Starting node
..Impaired ADP-induced platelet aggregation (HP:0004866)

help

Term ID:

4866

Name:

Impaired ADP-induced platelet aggregation

Synonym:

Definition:

Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.

Comments:

Reference:

Genes and Diseases:

Child Nodes:

Sister Nodes:

..

Impaired arachidonic acid-induced platelet aggregation (HP:0011870)

help

..

Impaired calcium ionophore-induced platelet aggregation (HP:0031130)

help

..

Impaired collagen-induced platelet aggregation (HP:0008320)

help

..

Impaired collagen-related peptide-induced platelet aggregation (HP:0031128)

help

..

Impaired convulxin-induced platelet aggregation (HP:0031127)

help

..

Impaired epinephrine-induced platelet aggregation (HP:0008148)

help

..

Impaired phorbol myristate acetate-induced platelet aggregation (HP:0031129)

help

..

Impaired ristocetin-induced platelet aggregation (HP:0011871)

help

..

Impaired thrombin-induced platelet aggregation (HP:0011872)

help

..

Impaired thromboxane A2 agonist-induced platelet aggregation (HP:0011894)

help

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004866	HP:0004866	Impaired ADP-induced platelet aggregation	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2				83
HP:0004866	HP:0004866	Impaired ADP-induced platelet aggregation	0	CALR CL E G H	811	1455	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1				1
HP:0004866	HP:0004866	Impaired ADP-induced platelet aggregation	0	FLI1 CL E G H	2313	3749	OMIM:617443	Bleeding disorder, platelet-type, 21				8
HP:0004866	HP:0004866	Impaired ADP-induced platelet aggregation	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5				105
HP:0004866	HP:0004866	Impaired ADP-induced platelet aggregation	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.			45
HP:0004866	HP:0004866	Impaired ADP-induced platelet aggregation	0	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0004866	HP:0004866	Impaired ADP-induced platelet aggregation	0	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia				69
HP:0004866	HP:0004866	Impaired ADP-induced platelet aggregation	0	ITGB3 CL E G H	3690	6156	OMIM:619271	BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24				80
HP:0004866	HP:0004866	Impaired ADP-induced platelet aggregation	0	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2				80
HP:0004866	HP:0004866	Impaired ADP-induced platelet aggregation	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss				297
HP:0004866	HP:0004866	Impaired ADP-induced platelet aggregation	0	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8				5
HP:0004866	HP:0004866	Impaired ADP-induced platelet aggregation	0	SH2B3 CL E G H	10019	29605	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1				4
HP:0004866	HP:0004866	Impaired ADP-induced platelet aggregation	0	THPO CL E G H	7066	11795	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1				23

Genes (12) :AP3B1 CALR FLI1 HPS5 HPS6 IKZF5 ITGA2B ITGB3 MYH9 P2RY12 SH2B3 THPO

Diseases (11) :OMIM:608233 OMIM:187950 OMIM:617443 OMIM:614074 OMIM:614075 OMIM:619130 OMIM:273800 OMIM:619271 OMIM:619267 OMIM:155100 OMIM:609821

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

MSeqDR is developed by MSeqDR Consortium and hosted by the CHLA
Copyright 2013-2024 The MSeqDR Consortium
All rights reserved

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