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: Congenital Abnormalities (D000013)
Parent Node: Genetic Diseases, Inborn (D030342)
..Starting node ..Chromosome Disorders (D025063)
Child Nodes:
........10p Deletion Syndrome (Partial) (C538288)
........13q deletion syndrome (C535484) 1
........15q24 Microdeletion (C579849)
........16p11.2 Deletion Syndrome (C579850)
........22q11 Deletion Syndrome (D058165) 5
........6q+ Syndrome, Partial (C537810)
........7p2 monosomy syndrome (C537818)
........9q22.3 Microdeletion (C579873)
........Angelman Syndrome (D017204) 1
........Beckwith-Wiedemann Syndrome (D001506) 1
........Branchio-Oto-Renal Syndrome (D019280) 5
........Chromosome 10q duplication syndrome (C537804)
........Chromosome 13q-mosaicism (C535486)
........Chromosome 15q13.3 Microdeletion Syndrome (C567439)
........Chromosome 17p13.3 Duplication Syndrome (C567705)
........Chromosome 18 deletion syndrome (C536580)
........Chromosome 18p deletion syndrome (C538309)
........Chromosome 19q13.11 Deletion Syndrome (C567810)
........Chromosome 1p36 Deletion Syndrome (C535362)
........Chromosome 22, monosome mosaic (C536798)
........Chromosome 3 duplication syndrome (C536803)
........Chromosome 3q29 Duplication Syndrome (C567626)
........Chromosome 4, 4q Terminal Deletion Syndrome (C537641)
........Chromosome 4q- Syndrome (C537639)
........Chromosome 5p13 Duplication Syndrome (C567717)
........Chromosome 6 ring syndrome (C537763)
........Chromosome 7 ring syndrome (C537813)
........Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
........Contiguous Abcd1/Dxs1375e Deletion Syndrome (C564508)
........Cri-du-Chat Syndrome (D003410) 6
........De Lange Syndrome (D003635) 1
........Delayed Cranial Ossification due to CBFB Haploinsufficiency (C565160)
........Deletion 13q syndrome, partial (C535449)
........Distal Trisomy 10q Syndrome (C538087)
........Down Syndrome (D004314) 6
........Duplication 4p Syndrome (C537643)
........Edinburgh Malformation Syndrome (C563051)
........Emanuel syndrome (C535733)
........Fragile Site 16p12 (C565001)
........Holoprosencephaly (D016142) 22
........Isodicentric Chromosome 15 Syndrome (C580205)
........Jacobsen Distal 11q Deletion Syndrome (D054868) 1
........Mental Retardation, Fra12a Type (C566980)
........Monosomy 7 of Bone Marrow (C565370)
........Mosaic variegated aneuploidy syndrome (C536987)
........NF1 Microduplication Syndrome (C567173)
........Otodental Dysplasia (C563482)
........Pallister Killian syndrome (C538105)
........Partial Duplication 15q Syndrome (C538036)
........Partial Trisomy 3q Syndrome (C537635)
........Patau syndrome (C536305)
........Potocki-Shaffer syndrome (C538356)
........Prader-Willi Syndrome (D011218) 2
........Recombinant chromosome 8 syndrome (C535296)
........Ring chromosome 4 syndrome (C537636)
........Rubinstein-Taybi Syndrome (D012415) 2
........Schmid-Fraccaro syndrome (C535918)
........Sex Chromosome Disorders (D025064) 32
........Silver-Russell Syndrome (D056730) 1
........Smith-Magenis Syndrome (D058496) 1
........Sotos Syndrome (D058495) 1
........Telomeric 22q13 Monosomy Syndrome (C536801)
........Thrombocytopenia chromosome breakage (C536519)
........Trisomy 18-Like Syndrome (C563382)
........Trisomy 22 mosaicism syndrome (C536796)
........WAGR Syndrome (D017624) 2
........Warburton Anyane Yeboa syndrome (C536682)
........Williams Syndrome (D018980) 1
........Wolf-Hirschhorn Syndrome (D054877)
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:	2366
Name:	Chromosome Disorders
Definition:	Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Alternative IDs:
ParentIDs:	MESH:D000013\|MESH:D030342
TreeNumbers:	C16.131.260 \|C16.320.180
Synonyms:	Autosomal Chromosome Disorder \|Autosomal Chromosome Disorders \|Chromosomal Disorder \|Chromosomal Disorders \|Chromosome Abnormality Disorder \|Chromosome Abnormality Disorders \|Chromosome Disorder \|Chromosome Disorder, Autosomal \|Chromosome Disorders, Autosomal \|Di
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)
Reference:	MedGen: D025063 MeSH: D025063 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants