Disease browser and phenotype portal

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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Hematologic Diseases (D006402)
..Starting node ..Hemorrhagic Disorders (D006474)
Child 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
Sister Nodes:
..Adenosine Triphosphate, Elevated, Of Erythrocytes (C566310)
..Anemia (D000740) 166
..Blood Coagulation Disorders (D001778) 119
..Blood Platelet Disorders (D001791) 93
..Blood Protein Disorders (D001796) 75
..Bone Marrow Diseases (D001855) 87
..Erythroblastosis, Fetal (D004899) 7
..Hematologic Neoplasms (D019337) 1
..Hemoglobinopathies (D006453) 23
..Hemorrhagic Disorders (D006474) 108
..Kabuki syndrome (C537705)
..Leukocyte Disorders (D007960) 84
..Macrocytosis, Familial (C564004)
..Methemoglobinemia (D008708) 6
..Pancytopenia (D010198) 5
..Polycythemia (D011086) 4
..Pregnancy Complications, Hematologic (D011250)
..Preleukemia (D011289)
..Rh-Null, Regulator Type (C564833)
..Sulfhemoglobinemia (D013436) 1
..Thrombophilia (D019851) 27
..Transfusion Reaction (D065227)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5051
Name:	Hemorrhagic Disorders
Definition:	Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS).
Alternative IDs:
ParentIDs:	MESH:D006402
TreeNumbers:	C15.378.463
Synonyms:	Diatheses, Hemorrhagic \|Diathesis, Hemorrhagic \|Disorder, Hemorrhagic \|Disorders, Hemorrhagic \|Hemorrhagic Diatheses \|Hemorrhagic Diathesis \|Hemorrhagic Disorder
Slim Mappings:	Blood disease
Reference:	MedGen: D006474 MeSH: D006474 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants