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MSeqDR-LSDB
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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Blood Coagulation Disorders (D001778)
Parent Node: Blood Platelet Disorders (D001791)
Parent Node: Hemorrhagic Disorders (D006474)
..Starting node ..Platelet Storage Pool Deficiency (D010981)
Child Nodes:
........Hermanski-Pudlak Syndrome (D022861) 3
........Platelet Alpha/Delta Storage Pool Deficiency (C566794)
Sister Nodes:
..Afibrinogenemia (D000347) 3
..Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells (C538539)
..Anti-plasmin deficiency, congenital (C537777)
..Antithrombin, Familial Hemorrhagic Diathesis due to (C565947)
..Bernard-Soulier Syndrome (D001606) 5
..Disseminated Intravascular Coagulation (D004211)
..Factor V Deficiency (D005166) 4
..Factor VII Deficiency (D005168)
..Factor X Deficiency (D005171)
..Factor XI Deficiency (D005173)
..Factor XII Deficiency (D005175)
..Factor XIII Deficiency (D005177) 2
..Hemophilia A (D006467) 5
..Hemophilia B (D002836)
..HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
..Hemostatic Disorders (D020141) 48
..Hypoprothrombinemias (D007020) 2
..Plasminogen Activator Inhibitor-1 Deficiency (C567640)
..Platelet Storage Pool Deficiency (D010981) 5
..Purpura, Thrombocytopenic, Idiopathic (D016553)
..Thrombasthenia (D013915) 3
..Thrombocythemia, Essential (D013920)
..Vitamin K Deficiency (D014813) 1
..von Willebrand Diseases (D014842) 6
..Waterhouse-Friderichsen Syndrome (D014884) 1
..Wiskott-Aldrich Syndrome (D014923) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9002

Name:

Platelet Storage Pool Deficiency

Definition:

Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored.

Alternative IDs:

OMIM:185050

ParentIDs:

MESH:D001778|MESH:D001791|MESH:D006474

TreeNumbers:

C15.378.100.685 |C15.378.140.735 |C15.378.463.735

Synonyms:

Slim Mappings:

Blood disease

Reference:

MedGen: D010981
MeSH: D010981
OMIM: 185050;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002488	Acute leukemia
3	HP:0005537	Decreased mean platelet volume
4	HP:0002863	Myelodysplasia
5	HP:0003010	Prolonged bleeding time

Disease Causing ClinVar Variants