Human Phenotype Ontology 
Grandparent Node:
expandAbnormal platelet aggregation (HP:0030402)help
Parent Node:
expandImpaired platelet aggregation (HP:0003540)help
..Starting node
..expandImpaired collagen-induced platelet aggregation (HP:0008320)help
Term ID: 8320
Name: Impaired collagen-induced platelet aggregation
Synonym:
Definition: Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.
Comments:
Reference: HP:0008320
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-related peptide-induced platelet aggregation (HP:0031128) help
..expandImpaired convulxin-induced platelet aggregation (HP:0031127) help
..expandImpaired epinephrine-induced platelet aggregation (HP:0008148) 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:0008320HP:0008320Impaired collagen-induced platelet aggregation0BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008320HP:0008320Impaired collagen-induced platelet aggregation0CALR CL E G H8111455OMIM:187950THROMBOCYTHEMIA 1; THCYT11
HP:0008320HP:0008320Impaired collagen-induced platelet aggregation0CISD2 CL E G H49385624212OMIM:604928Wolfram syndrome 23
HP:0008320HP:0008320Impaired collagen-induced platelet aggregation0GFI1B CL E G H83284238OMIM:187900Bleeding disorder, platelet-type, 173
HP:0008320HP:0008320Impaired collagen-induced platelet aggregation0IKZF5 CL E G H6437614283OMIM:619130THROMBOCYTOPENIA 7; THC7
HP:0008320HP:0008320Impaired collagen-induced platelet aggregation0ITGA2B CL E G H36746138OMIM:273800Glanzmann thrombasthenia69
HP:0008320HP:0008320Impaired collagen-induced platelet aggregation0ITGB3 CL E G H36906156OMIM:619271BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT2480
HP:0008320HP:0008320Impaired collagen-induced platelet aggregation0ITGB3 CL E G H36906156OMIM:619267GLANZMANN THROMBASTHENIA 2; GT280
HP:0008320HP:0008320Impaired collagen-induced platelet aggregation0LCP2 CL E G H39376529OMIM:619374IMMUNODEFICIENCY 81; IMD81
HP:0008320HP:0008320Impaired collagen-induced platelet aggregation0NBEAL2 CL E G H2321831928OMIM:139090Gray platelet syndrome.127
HP:0008320HP:0008320Impaired collagen-induced platelet aggregation0SH2B3 CL E G H1001929605OMIM:187950THROMBOCYTHEMIA 1; THCYT14
HP:0008320HP:0008320Impaired collagen-induced platelet aggregation0THPO CL E G H706611795OMIM:187950THROMBOCYTHEMIA 1; THCYT123


Genes (11) :BLOC1S5 CALR CISD2 GFI1B IKZF5 ITGA2B ITGB3 LCP2 NBEAL2 SH2B3 THPO

Diseases (10) :OMIM:619172 OMIM:187950 OMIM:604928 OMIM:187900 OMIM:619130 OMIM:273800 OMIM:619271 OMIM:619267 OMIM:619374 OMIM:139090
 

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