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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

Disease Browser
Parent Node: Blood Platelet Disorders (D001791)
..Starting node ..Platelet Signal Processing Defect (C566796)
Child Nodes:
Sister Nodes:
..Bernard-Soulier Syndrome (D001606) 5
..BLEEDING DISORDER, PLATELET-TYPE, 8 (OMIM:609821)
..Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality (C565600)
..Gray Platelet Syndrome (D055652) 1
..Platelet Aggregation, Spontaneous (C566800)
..Platelet Disorder, Familial, with Associated Myeloid Malignancy (C563324)
..Platelet Disorder, Undefined (C566799)
..Platelet Factor 3 Deficiency (C566798)
..Platelet Glycoprotein IV Deficiency (C564245)
..Platelet Prostacyclin Receptor Defect (C564884)
..Platelet Receptor for Collagen, Deficiency of (C565999)
..Platelet Signal Processing Defect (C566796)
..Platelet Storage Pool Deficiency (D010981) 5
..Primary Release Disorder Of Platelets (C566759)
..Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet (C567786)
..Stormorken Syndrome (C566108)
..Thrombasthenia (D013915) 3
..Thrombocytopenia (D013921) 48
..Thrombocytosis (D013922) 4
..Thromboxane Synthetase Deficiency (C562866)
..von Willebrand Diseases (D014842) 6
..White platelet syndrome (C536702)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9001

Name:

Platelet Signal Processing Defect

Definition:

Alternative IDs:

ParentIDs:

MESH:D001791

TreeNumbers:

C15.378.140/C566796

Synonyms:

Slim Mappings:

Blood disease

Reference:

MedGen: C566796
MeSH: C566796
OMIM: 173590;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000421	Epistaxis
3	HP:0004866	Impaired ADP-induced platelet aggregation
4	HP:0008320	Impaired collagen-induced platelet aggregation
5	HP:0008148	Impaired epinephrine-induced platelet aggregation
6	HP:0001873	Thrombocytopenia

Disease Causing ClinVar Variants