Human Phenotype Ontology 
Grandparent Node:
expandAbnormal platelet aggregation (HP:0030402)help
Parent Node:
expandImpaired platelet aggregation (HP:0003540)help
..Starting node
..expandImpaired epinephrine-induced platelet aggregation (HP:0008148)help
Term ID: 8148
Name: Impaired epinephrine-induced platelet aggregation
Synonym:
Definition: Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.
Comments:
Reference: HP:0008148
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandImpaired ADP-induced platelet aggregation (HP:0004866) help
..expandImpaired arachidonic acid-induced platelet aggregation (HP:0011870) help
..expandImpaired calcium ionophore-induced platelet aggregation (HP:0031130) help
..expandImpaired collagen-induced platelet aggregation (HP:0008320) help
..expandImpaired collagen-related peptide-induced platelet aggregation (HP:0031128) help
..expandImpaired convulxin-induced platelet aggregation (HP:0031127) help
..expandImpaired phorbol myristate acetate-induced platelet aggregation (HP:0031129) help
..expandImpaired ristocetin-induced platelet aggregation (HP:0011871) help
..expandImpaired thrombin-induced platelet aggregation (HP:0011872) help
..expandImpaired thromboxane A2 agonist-induced platelet aggregation (HP:0011894) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008148HP:0008148Impaired epinephrine-induced platelet aggregation0CALR CL E G H8111455OMIM:187950THROMBOCYTHEMIA 1; THCYT11
HP:0008148HP:0008148Impaired epinephrine-induced platelet aggregation0GFI1B CL E G H83284238OMIM:187900Bleeding disorder, platelet-type, 173
HP:0008148HP:0008148Impaired epinephrine-induced platelet aggregation0ITGA2B CL E G H36746138OMIM:273800Glanzmann thrombasthenia69
HP:0008148HP:0008148Impaired epinephrine-induced platelet aggregation0ITGB3 CL E G H36906156OMIM:619271BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT2480
HP:0008148HP:0008148Impaired epinephrine-induced platelet aggregation0ITGB3 CL E G H36906156OMIM:619267GLANZMANN THROMBASTHENIA 2; GT280
HP:0008148HP:0008148Impaired epinephrine-induced platelet aggregation0MYH9 CL E G H46277579OMIM:155100Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss297
HP:0008148HP:0008148Impaired epinephrine-induced platelet aggregation0PLAU CL E G H53289052OMIM:601709Quebec platelet disorder.50
HP:0008148HP:0008148Impaired epinephrine-induced platelet aggregation0SH2B3 CL E G H1001929605OMIM:187950THROMBOCYTHEMIA 1; THCYT14
HP:0008148HP:0008148Impaired epinephrine-induced platelet aggregation0THPO CL E G H706611795OMIM:187950THROMBOCYTHEMIA 1; THCYT123


Genes (8) :CALR GFI1B ITGA2B ITGB3 MYH9 PLAU SH2B3 THPO

Diseases (7) :OMIM:187950 OMIM:187900 OMIM:273800 OMIM:619271 OMIM:619267 OMIM:155100 OMIM:601709
 

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