Human Phenotype Ontology

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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 platelet aggregation (HP:0030402)

Parent Node:
Abnormality of von Willebrand factor (HP:0012146)

Parent Node:
Impaired platelet aggregation (HP:0003540)

..Starting node
..Impaired ristocetin-induced platelet aggregation (HP:0011871)

Term ID:

11871

Name:

Impaired ristocetin-induced platelet aggregation

Synonym:

Definition:

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

Comments:

Reference:

HP:0011871

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired ADP-induced platelet aggregation (HP:0004866)

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

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

Impaired collagen-induced platelet aggregation (HP:0008320)

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

Impaired convulxin-induced platelet aggregation (HP:0031127)

Impaired epinephrine-induced platelet aggregation (HP:0008148)

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

Impaired thrombin-induced platelet aggregation (HP:0011872)

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

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:0011871	HP:0011871	Impaired ristocetin-induced platelet aggregation	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040280 - Obligate	23
HP:0011871	HP:0011871	Impaired ristocetin-induced platelet aggregation	0	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0011871	HP:0011871	Impaired ristocetin-induced platelet aggregation	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040280 - Obligate	8
HP:0011871	HP:0011871	Impaired ristocetin-induced platelet aggregation	0	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0011871	HP:0011871	Impaired ristocetin-induced platelet aggregation	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040280 - Obligate	21
HP:0011871	HP:0011871	Impaired ristocetin-induced platelet aggregation	0	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0011871	HP:0011871	Impaired ristocetin-induced platelet aggregation	0	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0011871	HP:0011871	Impaired ristocetin-induced platelet aggregation	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040284 - Very rare	69
HP:0011871	HP:0011871	Impaired ristocetin-induced platelet aggregation	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040284 - Very rare	80

Genes (6) :GP1BA GP1BB GP9 IKZF5 ITGA2B ITGB3

Diseases (4) :ORPHA:274 OMIM:231200 OMIM:619130 ORPHA:849

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

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