Disease browser and phenotype portal

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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: Cardiomyopathy, Hypertrophic (D002312)
Parent Node: Genetic Diseases, Inborn (D030342)
..Starting node ..Cardiomyopathy, Hypertrophic, Familial (D024741)
Child Nodes:
........Cardiomyopathy, Familial Hypertrophic, 1 (C566005)
........Cardiomyopathy, Familial Hypertrophic, 10 (C563865)
........Cardiomyopathy, Familial Hypertrophic, 11 (C567419)
........CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 (OMIM:612124)
........Cardiomyopathy, Familial Hypertrophic, 13 (C567686)
........Cardiomyopathy, Familial Hypertrophic, 14 (C567684)
........Cardiomyopathy, Familial Hypertrophic, 15 (C567681)
........Cardiomyopathy, Familial Hypertrophic, 2 (C566171)
........Cardiomyopathy, Familial Hypertrophic, 3 (C566170)
........Cardiomyopathy, Familial Hypertrophic, 4 (C566169)
........Cardiomyopathy, Familial Hypertrophic, 6 (C563436)
........CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 (OMIM:613690)
........Cardiomyopathy, Familial Hypertrophic, 8 (C563866)
........Cardiomyopathy, Familial Hypertrophic, 9 (C566044)
........DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, (OMIM:606346)
Sister 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
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1759
Name:	Cardiomyopathy, Hypertrophic, Familial
Definition:	An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more than 50 mutations involving genes encoding contractile proteins such as VENTRICULAR MYOSINS; cardiac TROPONIN T; ALPHA-TROPOMYOSIN.
Alternative IDs:
ParentIDs:	MESH:D002312\|MESH:D030342
TreeNumbers:	C14.280.238.100.500 \|C14.280.484.150.070.160.500 \|C16.320.160
Synonyms:	Asymmetric Septal Hypertrophy, Familial \|Cardiomyopathies, Familial Hypertrophic \|Cardiomyopathy, Familial Hypertrophic \|Familial Hypertrophic Cardiomyopathies \|Familial Hypertrophic Cardiomyopathy \|Familial Ventricular Hypertrophies \|Familial Ventricular Hype
Slim Mappings:	Cardiovascular disease\|Genetic disease (inborn)
Reference:	MedGen: D024741 MeSH: D024741 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants