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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: Congenital, Hereditary, and Neonatal Diseases and Abnormalities (D009358)
..Starting node ..Genetic Diseases, Inborn (D030342)
Child Nodes:
........ACTH Deficiency, Isolated (C562707)
........Adrenal Hyperplasia, Congenital (D000312) 12
........Adrenocortical Hypofunction, Chronic Primary Congenital (C562711)
........Alagille Syndrome (D016738)
........alpha 1-Antitrypsin Deficiency (D019896) 1
........Alpha-2-Deficient Collagen Disease (C565963)
........Anemia, Hemolytic, Congenital (D000745) 68
........Anemia, Hypoplastic, Congenital (D029502) 27
........Angioedemas, Hereditary (D054179) 2
........Ataxia Telangiectasia (D001260) 6
........Atrial Standstill (C563984)
........Autoimmune Lymphoproliferative Syndrome (D056735) 5
........Blood Coagulation Disorders, Inherited (D025861) 70
........Brugada Syndrome (D053840) 9
........CADASIL (D046589) 1
........Camurati-Engelmann Syndrome (D003966) 4
........Cardiomyopathy, Hypertrophic, Familial (D024741) 15
........Cerebral Palsy, Ataxic, Autosomal Recessive (C562856)
........CHARGE Syndrome (D058747)
........Cherubism (D002636) 2
........Chromosome Disorders (D025063) 160
........Cirrhosis, Familial (C566123)
........Complement Factor I Deficiency (C572568)
........Corticosteroid-Binding Globulin Deficiency (C565152)
........Costello Syndrome (D056685)
........Cryoglobulinemia, Familial Mixed (C565141)
........Cystic Fibrosis (D003550) 4
........Donohue Syndrome (D056731) 1
........Dwarfism (D004392) 155
........Epistaxis, Hereditary (C562751)
........Eye Diseases, Hereditary (D015785) 373
........Frasier Syndrome (D052159)
........Genetic Diseases, X-Linked (D040181) 412
........Genetic Diseases, Y-Linked (D050174) 5
........Hajdu-Cheney Syndrome (D031845) 1
........Hemoglobinopathies (D006453) 23
........Hepatic Fibrosis, Congenital (C562378)
........Hereditary Autoinflammatory Diseases (D056660) 10
........Hereditary Myopathy with Early Respiratory Failure (C566343)
........Heredodegenerative Disorders, Nervous System (D020271) 543
........Histiocytosis, Familial Lipochrome (C562738)
........Hyper-IgM Immunodeficiency Syndrome (D053306) 3
........Hyperthyroxinemia, Familial Dysalbuminemic (D050010) 1
........Interstitial Pneumonitis, Desquamative, Familial (C562470)
........Kallmann Syndrome (D017436) 9
........Kartagener Syndrome (D007619) 6
........Lennox Gastaut Syndrome (D065768) 1
........Loeys-Dietz Syndrome (D055947) 5
........Marfan Syndrome (D008382) 9
........Metabolism, Inborn Errors (D008661) 886
........Muscular Dystrophies (D009136) 117
........Myasthenic Syndromes, Congenital (D020294) 15
........Nail-Patella Syndrome (D009261) 1
........Neoplastic Syndromes, Hereditary (D009386) 111
........Neutropenia, Nonimmune Chronic Idiopathic, Adult (C564320)
........Osteoarthropathy, Primary Hypertrophic (D010004) 2
........Osteogenesis Imperfecta (D010013) 27
........Pain Insensitivity, Congenital (D000699) 2
........Parotidomegaly, Hereditary Bilateral (C566821)
........Pelger-Huet Anomaly (D010381)
........Platelet Glycoprotein IV Deficiency (C564245)
........Polycystic Kidney, Autosomal Recessive (D017044) 3
........Prolactin Deficiency, Isolated (C562708)
........Pulmonary Alveolar Microlithiasis (C562405)
........Pycnodysostosis (D058631)
........Rh Deficiency Syndrome (C562717)
........Skin Diseases, Genetic (D012873) 462
........Weill-Marchesani Syndrome (D056846)
........Werner Syndrome (D014898) 1
........Yellow Nail Syndrome (D056684) 1
Sister Nodes:
..Congenital Abnormalities (D000013) 2760
..Fetal Diseases (D005315) 51
..Genetic Diseases, Inborn (D030342) 3008
..Hemorrhagic shock and encephalopathy syndrome (C537254)
..Infant, Newborn, Diseases (D007232) 225
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4557
Name:	Genetic Diseases, Inborn
Definition:	Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
Alternative IDs:
ParentIDs:	MESH:D009358
TreeNumbers:	C16.320
Synonyms:	Defect, Single-Gene \|Defects, Single-Gene \|Disease, Hereditary \|Disease, Inborn Genetic \|Diseases, Hereditary \|Diseases, Inborn Genetic \|Genetic Disease, Inborn \|Hereditary Disease \|Hereditary Diseases \|Inborn Genetic Disease \|Inborn Genetic Diseases \|Single-Gene D
Slim Mappings:	Genetic disease (inborn)
Reference:	MedGen: D030342 MeSH: D030342 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants