Human Phenotype Ontology

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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:
Impaired platelet aggregation (HP:0003540)

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

Term ID:

11870

Name:

Impaired arachidonic acid-induced platelet aggregation

Synonym:

Definition:

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

Comments:

Reference:

HP:0011870

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired ADP-induced platelet aggregation (HP:0004866)

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 ristocetin-induced platelet aggregation (HP:0011871)

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	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011870	HP:0011870	Impaired arachidonic acid-induced platelet aggregation	0	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0011870	HP:0011870	Impaired arachidonic acid-induced platelet aggregation	0	ITGB3 CL E G H	3690	6156	OMIM:619271	BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24	80

Genes (2) :IKZF5 ITGB3

Diseases (2) :OMIM:619130 OMIM:619271

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