Article |
Import |
Date |
Assess |
Ver |
Comments |
Asperger syndrome [1] |
|
September 26, 2006 |
1 FA |
0.5 |
|
Autism [2] |
|
August 16, 2007 |
1 FA |
|
|
Chromosome 10 (human) [3] |
|
March 21, 2008 |
1 FA |
|
|
Coeliac disease [4] |
|
March 26, 2007 |
1 FA |
|
|
Cystic fibrosis [5] |
|
September 17, 2006 |
1 FA |
0.5 |
|
Down syndrome [6] |
|
September 17, 2006 |
1 FA |
0.5 |
|
Tourette syndrome [7] |
|
November 2, 2006 |
1 FA |
0.5 |
|
Albinism [8] |
|
September 17, 2006 |
2 A |
|
|
Tay-Sachs disease [9] |
|
May 16, 2007 |
2 A |
0.5 |
|
Chronic granulomatous disease [10] |
|
September 27, 2006 |
3 GA |
|
|
Color blindness [11] |
|
May 10, 2007 |
3 GA |
0.5 |
|
Crohn's disease [12] |
|
October 16, 2006 |
3 GA |
|
|
Leopard syndrome [13] |
|
April 15, 2008 |
3 GA |
|
|
Robinow syndrome [14] |
|
September 20, 2006 |
3 GA |
|
|
Wilson's disease [15] |
|
June 7, 2008 |
3 GA |
|
|
1p36 deletion syndrome [16] |
|
October 14, 2006 |
4 B |
|
|
22q11.2 deletion syndrome [17] |
|
May 14, 2007 |
4 B |
|
|
Aarskog syndrome [18] |
|
September 17, 2006 |
4 B |
|
|
Achondroplasia [19] |
|
September 17, 2006 |
4 B |
|
|
Acrodermatitis enteropathica [20] |
|
September 17, 2006 |
4 B |
|
|
Acute fatty liver of pregnancy [21] |
|
October 14, 2006 |
4 B |
|
|
Adrenoleukodystrophy [22] |
|
September 17, 2006 |
4 B |
|
|
Alpha 1-antitrypsin deficiency [23] |
|
September 17, 2006 |
4 B |
|
|
Alport syndrome [24] |
|
September 26, 2006 |
4 B |
|
|
Amelogenesis imperfecta [25] |
|
September 26, 2006 |
4 B |
|
|
Androgen insensitivity syndrome [26] |
|
May 12, 2007 |
4 B |
|
|
Androgenic alopecia [27] |
|
September 26, 2006 |
4 B |
|
|
Angelman syndrome [28] |
|
September 17, 2006 |
4 B |
|
|
Apert syndrome [29] |
|
September 26, 2006 |
4 B |
|
|
Ataxia telangiectasia [30] |
|
September 26, 2006 |
4 B |
|
|
Autosomal dominant nocturnal frontal lobe epilepsy [31] |
|
October 14, 2006 |
4 B |
|
|
Becker's muscular dystrophy [32] |
|
September 26, 2006 |
4 B |
|
|
Benign familial neonatal convulsions [33] |
|
October 15, 2006 |
4 B |
|
|
Brugada syndrome [34] |
|
September 22, 2006 |
4 B |
|
|
Canavan disease [35] |
|
September 17, 2006 |
4 B |
|
|
Charcot-Marie-Tooth disease [36] |
|
September 17, 2006 |
4 B |
|
|
Childhood absence epilepsy [37] |
|
October 15, 2006 |
4 B |
|
|
Chromosome 1 (human) [38] |
|
March 21, 2008 |
4 B |
|
|
Congenital adrenal hyperplasia [39] |
|
October 12, 2006 |
4 B |
|
|
Congenital hyperinsulinism [40] |
|
October 12, 2006 |
4 B |
|
|
Crouzon syndrome [41] |
|
October 12, 2006 |
4 B |
|
|
Cystic fibrosis transmembrane conductance regulator [42] |
|
October 16, 2006 |
4 B |
|
|
Cytogenetics [43] |
|
May 10, 2007 |
4 B |
|
|
Diagnosis of Asperger syndrome [44] |
|
September 18, 2007 |
4 B |
|
|
Diamond-Blackfan anemia [45] |
|
October 12, 2006 |
4 B |
|
|
Dor Yeshorim [46] |
|
October 12, 2006 |
4 B |
|
|
Duchenne muscular dystrophy [47] |
|
March 30, 2008 |
4 B |
0.5 |
|
Edwards syndrome [48] |
|
October 12, 2006 |
4 B |
|
|
Facioscapulohumeral muscular dystrophy [49] |
|
October 16, 2006 |
4 B |
|
|
Familial Mediterranean fever [50] |
|
October 12, 2006 |
4 B |
|
|
Familial adenomatous polyposis [51] |
|
October 12, 2006 |
4 B |
|
|
Familial hemiplegic migraine [52] |
|
May 10, 2007 |
4 B |
|
|
Fragile X syndrome [53] |
|
October 12, 2006 |
4 B |
|
|
Fructose malabsorption [54] |
|
October 12, 2006 |
4 B |
|
|
Gaucher's disease [55] |
|
October 12, 2006 |
4 B |
|
|
Gene therapy [56] |
|
January 12, 2007 |
4 B |
|
|
Generalized epilepsy with febrile seizures plus [57] |
|
May 10, 2007 |
4 B |
|
|
Genetic counseling [58] |
|
September 17, 2006 |
4 B |
|
|
Genetic disorder [59] |
|
September 17, 2006 |
4 B |
|
|
Genetic origins of Down syndrome [60] |
|
October 16, 2006 |
4 B |
|
|
Genetic screen [61] |
|
October 16, 2006 |
4 B |
|
|
Genetic testing [62] |
|
September 21, 2006 |
4 B |
|
|
Glycogen storage disease type II [63] |
|
October 12, 2006 |
4 B |
|
|
Gulf War syndrome [64] |
|
May 12, 2007 |
4 B |
|
|
Haemochromatosis [65] |
|
September 17, 2006 |
4 B |
|
|
Harlequin type ichthyosis [66] |
|
October 12, 2006 |
4 B |
|
|
Health aspects of Down syndrome [67] |
|
October 16, 2006 |
4 B |
|
|
Hereditary elliptocytosis [68] |
|
May 10, 2007 |
4 B |
|
|
Hereditary hemorrhagic telangiectasia [69] |
|
October 12, 2006 |
4 B |
|
|
History of Asperger syndrome [70] |
|
September 18, 2007 |
4 B |
|
|
Human genetic engineering [71] |
|
September 17, 2006 |
4 B |
|
|
Hunter syndrome [72] |
|
October 12, 2006 |
4 B |
|
|
Huntington's disease [73] |
|
May 24, 2008 |
4 B |
|
|
Hurler syndrome [74] |
|
October 12, 2006 |
4 B |
|
|
Hyperkalemic periodic paralysis [75] |
|
October 12, 2006 |
4 B |
|
|
Hypokalemic periodic paralysis [76] |
|
October 12, 2006 |
4 B |
|
|
Hypomagnesemia with secondary hypocalcemia [77] |
|
October 16, 2006 |
4 B |
|
|
Juvenile myoclonic epilepsy [78] |
|
October 16, 2006 |
4 B |
|
|
Kallmann syndrome [79] |
|
October 16, 2006 |
4 B |
|
|
Kennedy disease [80] |
|
October 12, 2006 |
4 B |
|
|
Klinefelter's syndrome [81] |
|
September 17, 2006 |
4 B |
0.5 |
|
Lesch-Nyhan syndrome [82] |
|
June 10, 2007 |
4 B |
0.5 |
|
Lipoid congenital adrenal hyperplasia [83] |
|
October 12, 2006 |
4 B |
|
|
List of genetic disorders [84] |
|
October 16, 2006 |
4 B |
|
|
Long QT syndrome [85] |
|
September 19, 2006 |
4 B |
|
|
Malignant hyperthermia [86] |
|
October 16, 2006 |
4 B |
|
|
Marfan syndrome [87] |
|
September 17, 2006 |
4 B |
0.5 |
|
McCune-Albright syndrome [88] |
|
September 17, 2006 |
4 B |
|
|
Medical genetics [89] |
|
September 17, 2006 |
4 B |
|
|
Migraine [90] |
|
October 4, 2006 |
4 B |
|
|
Mitochondrial disease [91] |
|
September 17, 2006 |
4 B |
|
|
Mucopolysaccharidosis [92] |
|
October 5, 2006 |
4 B |
|
|
Myotonic dystrophy [93] |
|
October 17, 2006 |
4 B |
|
|
Nemaline myopathy [94] |
|
October 3, 2006 |
4 B |
|
|
Neurofibromatosis [95] |
|
September 17, 2006 |
4 B |
|
|
Neurofibromatosis type I [96] |
|
September 17, 2006 |
4 B |
|
|
Neurofibromatosis type II [97] |
|
October 3, 2006 |
4 B |
|
|
Niemann-Pick disease [98] |
|
September 17, 2006 |
4 B |
|
|
Noonan syndrome [99] |
|
October 3, 2006 |
4 B |
|
|
Osteogenesis imperfecta [100] |
|
October 2, 2006 |
4 B |
|
|
Paramyotonia congenita [101] |
|
October 2, 2006 |
4 B |
|
|
Pectus excavatum [102] |
|
May 4, 2008 |
4 B |
|
|
Periodic paralysis [103] |
|
October 2, 2006 |
4 B |
|
|
Phenylketonuria [104] |
|
September 17, 2006 |
4 B |
0.5 |
|
Philadelphia chromosome [105] |
|
October 17, 2006 |
4 B |
|
|
Polycystic kidney disease [106] |
|
September 28, 2006 |
4 B |
|
|
Polydactyly [107] |
|
September 17, 2006 |
4 B |
|
|
Porphyria [108] |
|
May 10, 2007 |
4 B |
|
|
Prader-Willi syndrome [109] |
|
September 17, 2006 |
4 B |
|
|
Preimplantation genetic diagnosis [110] |
|
September 25, 2006 |
4 B |
|
|
Progeria [111] |
|
September 22, 2006 |
4 B |
|
|
Progressive familial intrahepatic cholestasis [112] |
|
September 22, 2006 |
4 B |
|
|
Retinitis pigmentosa [113] |
|
September 21, 2006 |
4 B |
|
|
Rett syndrome [114] |
|
October 16, 2006 |
4 B |
|
|
Short QT syndrome [115] |
|
September 21, 2006 |
4 B |
|
|
Shwachman-Diamond syndrome [116] |
|
September 18, 2006 |
4 B |
|
|
Sickle-cell disease [117] |
|
May 14, 2007 |
4 B |
0.5 |
|
Situs inversus [118] |
|
May 10, 2007 |
4 B |
|
|
Smith-Magenis syndrome [119] |
|
September 17, 2006 |
4 B |
|
|
Spina bifida [120] |
|
September 17, 2006 |
4 B |
|
|
Spinal muscular atrophy [121] |
|
September 17, 2006 |
4 B |
|
|
Spinocerebellar ataxia [122] |
|
September 17, 2006 |
4 B |
|
|
Stickler syndrome [123] |
|
September 17, 2006 |
4 B |
|
|
Tetrahydrobiopterin deficiency [124] |
|
September 17, 2006 |
4 B |
|
|
Thalassemia [125] |
|
May 14, 2007 |
4 B |
0.5 |
|
Treacher Collins syndrome [126] |
|
September 17, 2006 |
4 B |
|
|
Trimethylaminuria [127] |
|
September 17, 2006 |
4 B |
|
|
Trinucleotide repeat disorders [128] |
|
September 17, 2006 |
4 B |
|
|
Triple X syndrome [129] |
|
September 17, 2006 |
4 B |
|
|
Tuberous sclerosis [130] |
|
April 12, 2007 |
4 B |
|
|
Turner syndrome [131] |
|
September 17, 2006 |
4 B |
0.5 |
|
Tyrosinemia [132] |
|
September 17, 2006 |
4 B |
|
|
Usher syndrome [133] |
|
September 17, 2006 |
4 B |
|
|
Von Willebrand disease [134] |
|
September 17, 2006 |
4 B |
|
|
Werner syndrome [135] |
|
September 17, 2006 |
4 B |
|
|
Wiskott-Aldrich syndrome [136] |
|
September 17, 2006 |
4 B |
|
|
XX gonadal dysgenesis [137] |
|
September 17, 2006 |
4 B |
|
|
XYY syndrome [138] |
|
September 17, 2006 |
4 B |
|
|
Xeroderma pigmentosum [139] |
|
September 17, 2006 |
4 B |
|
|
22q13 deletion syndrome [140] |
|
October 14, 2006 |
5 Start |
|
|
3-Methylcrotonyl-CoA carboxylase deficiency [141] |
|
November 16, 2006 |
5 Start |
|
|
3-Methylglutaconic aciduria [142] |
|
November 16, 2006 |
5 Start |
|
|
3-hydroxy-3-methylglutaryl-CoA lyase deficiency [143] |
|
September 17, 2006 |
5 Start |
|
|
48, XXXX [144] |
|
December 5, 2007 |
5 Start |
|
|
Aase syndrome [145] |
|
September 17, 2006 |
5 Start |
|
|
Abetalipoproteinemia [146] |
|
September 17, 2006 |
5 Start |
|
|
Achondrogenesis [147] |
|
September 17, 2006 |
5 Start |
|
|
Achromatopsia [148] |
|
October 16, 2006 |
5 Start |
|
|
Adenylosuccinate lyase deficiency [149] |
|
September 17, 2006 |
5 Start |
|
|
Aicardi syndrome [150] |
|
September 24, 2006 |
5 Start |
|
|
Alagille syndrome [151] |
|
September 24, 2006 |
5 Start |
|
|
Alexander disease [152] |
|
September 24, 2006 |
5 Start |
|
|
Alkaptonuria [153] |
|
September 24, 2006 |
5 Start |
|
|
Alstrom syndrome [154] |
|
September 26, 2006 |
5 Start |
|
|
Alternating hemiplegia of childhood [155] |
|
October 14, 2006 |
5 Start |
|
|
Andersen-Tawil syndrome [156] |
|
September 26, 2006 |
5 Start |
|
|
Aneuploidy [157] |
|
September 17, 2006 |
5 Start |
|
|
Anticipation (genetics) [158] |
|
September 17, 2006 |
5 Start |
|
|
Argininosuccinic aciduria [159] |
|
September 26, 2006 |
5 Start |
|
|
Ascertainment bias [160] |
|
October 14, 2006 |
5 Start |
|
|
Atelosteogenesis, type II [161] |
|
September 26, 2006 |
5 Start |
|
|
Autism (incidence) [162] |
|
July 31, 2007 |
5 Start |
|
|
Autism: The Musical [163] |
|
March 30, 2008 |
5 Start |
|
|
Banti's syndrome [164] |
|
September 26, 2006 |
5 Start |
|
|
Bardet-Biedl syndrome [165] |
|
September 26, 2006 |
5 Start |
|
|
Barth syndrome [166] |
|
September 26, 2006 |
5 Start |
|
|
Bartter syndrome [167] |
|
September 26, 2006 |
5 Start |
|
|
Behavioural genetics [168] |
|
February 27, 2008 |
5 Start |
|
|
Beta-ketothiolase deficiency [169] |
|
December 7, 2006 |
5 Start |
|
|
Biological inheritance [170] |
|
February 14, 2008 |
5 Start |
|
|
Biotinidase [171] |
|
April 22, 2007 |
5 Start |
|
|
Biotinidase deficiency [172] |
|
September 26, 2006 |
5 Start |
|
|
Birt-Hogg-Dubé syndrome [173] |
|
September 26, 2006 |
5 Start |
|
|
Bloom syndrome [174] |
|
September 26, 2006 |
5 Start |
|
|
CADASIL [175] |
|
October 2, 2006 |
5 Start |
|
|
CCR5 [176] |
|
October 3, 2006 |
5 Start |
|
|
Cardiofaciocutaneous syndrome [177] |
|
October 3, 2006 |
5 Start |
|
|
Carnitine palmitoyltransferase I deficiency [178] |
|
October 3, 2006 |
5 Start |
|
|
Carnitine palmitoyltransferase II deficiency [179] |
|
October 3, 2006 |
5 Start |
|
|
Carnitine-acylcarnitine translocase deficiency [180] |
|
October 3, 2006 |
5 Start |
|
|
Causes of autism [181] |
|
July 31, 2007 |
5 Start |
|
|
Cavernous angioma [182] |
|
October 3, 2006 |
5 Start |
|
|
Chromosome 11 (human) [183] |
|
March 21, 2008 |
5 Start |
|
|
Chromosome 12 (human) [184] |
|
March 21, 2008 |
5 Start |
|
|
Chromosome 13 (human) [185] |
|
March 21, 2008 |
5 Start |
|
|
Chromosome 14 (human) [186] |
|
March 21, 2008 |
5 Start |
|
|
Chromosome 15 (human) [187] |
|
March 21, 2008 |
5 Start |
|
|
Chromosome 16 (human) [188] |
|
March 21, 2008 |
5 Start |
|
|
Chromosome 17 (human) [189] |
|
March 21, 2008 |
5 Start |
|
|
Chromosome 2 (human) [190] |
|
March 21, 2008 |
5 Start |
|
|
Chromosome 21 (human) [191] |
|
March 21, 2008 |
5 Start |
|
|
Chromosome 22 (human) [192] |
|
March 21, 2008 |
5 Start |
|
|
Chromosome 3 (human) [193] |
|
March 21, 2008 |
5 Start |
|
|
Chromosome 4 (human) [194] |
|
March 21, 2008 |
5 Start |
|
|
Chromosome 5 (human) [195] |
|
March 21, 2008 |
5 Start |
|
|
Chromosome 6 (human) [196] |
|
March 21, 2008 |
5 Start |
|
|
Chromosome 7 (human) [197] |
|
March 21, 2008 |
5 Start |
|
|
Chromosome 8 (human) [198] |
|
March 21, 2008 |
5 Start |
|
|
Chromosome 9 (human) [199] |
|
March 21, 2008 |
5 Start |
|
|
Chromosome abnormality [200] |
|
October 16, 2006 |
5 Start |
|
|
Citrullinemia [201] |
|
October 4, 2006 |
5 Start |
|
|
Cockayne syndrome [202] |
|
October 12, 2006 |
5 Start |
|
|
Coffin-Lowry syndrome [203] |
|
October 12, 2006 |
5 Start |
|
|
Cohen syndrome [204] |
|
October 12, 2006 |
5 Start |
|
|
Collagenopathy, types II and XI [205] |
|
October 12, 2006 |
5 Start |
|
|
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency [206] |
|
October 12, 2006 |
5 Start |
|
|
Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency [207] |
|
October 12, 2006 |
5 Start |
|
|
Costello syndrome [208] |
|
October 12, 2006 |
5 Start |
|
|
Cri du chat [209] |
|
October 12, 2006 |
5 Start |
|
|
Crigler-Najjar syndrome [210] |
|
October 12, 2006 |
5 Start |
|
|
Crouzonodermoskeletal syndrome [211] |
|
October 12, 2006 |
5 Start |
|
|
Cystinosis [212] |
|
October 12, 2006 |
5 Start |
|
|
Cystinuria [213] |
|
October 12, 2006 |
5 Start |
|
|
DNA repair-deficiency disorder [214] |
|
September 17, 2006 |
5 Start |
|
|
Deletion (genetics) [215] |
|
October 16, 2006 |
5 Start |
|
|
Dentinogenesis imperfecta [216] |
|
October 12, 2006 |
5 Start |
|
|
Diastrophic dysplasia [217] |
|
October 12, 2006 |
5 Start |
|
|
Distal Trisomy 10q [218] |
|
October 12, 2006 |
5 Start |
|
|
Duane-radial ray syndrome [219] |
|
October 12, 2006 |
5 Start |
|
|
Ectrodactyly [220] |
|
October 12, 2006 |
5 Start |
|
|
Ellis-van Creveld syndrome [221] |
|
October 12, 2006 |
5 Start |
|
|
Emery-Dreifuss muscular dystrophy [222] |
|
October 12, 2006 |
5 Start |
|
|
Epidermolysis bullosa [223] |
|
October 12, 2006 |
5 Start |
|
|
Epidermolytic hyperkeratosis [224] |
|
October 12, 2006 |
5 Start |
|
|
Erythromelalgia [225] |
|
October 16, 2006 |
5 Start |
|
|
Ethylmalonic encephalopathy [226] |
|
December 7, 2006 |
5 Start |
|
|
Expressivity [227] |
|
February 2, 2008 |
5 Start |
|
|
Fabry's disease [228] |
|
October 16, 2006 |
5 Start |
|
|
Factor IX [229] |
|
October 16, 2006 |
5 Start |
|
|
Factor V Leiden [230] |
|
February 23, 2008 |
5 Start |
|
|
Factor VIII [231] |
|
October 16, 2006 |
5 Start |
|
|
Factor XI [232] |
|
October 16, 2006 |
5 Start |
|
|
Familial Alzheimer disease [233] |
|
May 10, 2007 |
5 Start |
|
|
Familial amyloid polyneuropathy [234] |
|
October 17, 2006 |
5 Start |
|
|
Familial dysautonomia [235] |
|
May 10, 2007 |
5 Start |
|
|
Fanconi anemia [236] |
|
October 12, 2006 |
5 Start |
|
|
Genetic marker [237] |
|
February 27, 2008 |
5 Start |
|
|
Genomics [238] |
|
February 10, 2008 |
5 Start |
|
|
Giant axonal neuropathy [239] |
|
October 12, 2006 |
5 Start |
|
|
Gilbert's syndrome [240] |
|
June 3, 2008 |
5 Start |
|
|
Glanzmann's thrombasthenia [241] |
|
October 12, 2006 |
5 Start |
|
|
Glutaric acidemia type 2 [242] |
|
October 12, 2006 |
5 Start |
|
|
Glutaric aciduria type 1 [243] |
|
October 12, 2006 |
5 Start |
|
|
Gluten-sensitive idiopathic neuropathies [244] |
|
September 15, 2007 |
5 Start |
|
|
Glycogen storage disease type I [245] |
|
May 10, 2007 |
5 Start |
|
|
Greig cephalopolysyndactyly syndrome [246] |
|
October 12, 2006 |
5 Start |
|
|
Haemophilia [247] |
|
October 24, 2007 |
5 Start |
0.5 |
|
Haemophilia A [248] |
|
October 12, 2006 |
5 Start |
|
|
Haemophilia B [249] |
|
October 12, 2006 |
5 Start |
|
|
Haemophilia in European royalty [250] |
|
October 12, 2006 |
5 Start |
|
|
Half twin [251] |
|
March 3, 2008 |
5 Start |
|
|
Hereditary nonpolyposis colorectal cancer [252] |
|
October 12, 2006 |
5 Start |
|
|
Hereditary spastic paraplegia [253] |
|
October 12, 2006 |
5 Start |
|
|
Heritability of autism [254] |
|
July 31, 2007 |
5 Start |
|
|
Holocarboxylase synthetase deficiency [255] |
|
October 12, 2006 |
5 Start |
|
|
Holt-Oram syndrome [256] |
|
October 12, 2006 |
5 Start |
|
|
Homocystinuria [257] |
|
September 17, 2006 |
5 Start |
|
|
Howel-Evans syndrome [258] |
|
October 12, 2006 |
5 Start |
|
|
Hyperimmunoglobulinemia D with recurrent fever [259] |
|
October 26, 2006 |
5 Start |
|
|
Hypochondrogenesis [260] |
|
October 12, 2006 |
5 Start |
|
|
Hypochondroplasia [261] |
|
October 12, 2006 |
5 Start |
|
|
Hypohidrotic ectodermal dysplasia [262] |
|
October 16, 2006 |
5 Start |
|
|
Ichthyosis [263] |
|
October 12, 2006 |
5 Start |
|
|
Ichthyosis vulgaris [264] |
|
October 12, 2006 |
5 Start |
|
|
Infantile cortical hyperostosis [265] |
|
October 12, 2006 |
5 Start |
|
|
Isobutyryl-coenzyme A dehydrogenase deficiency [266] |
|
October 16, 2006 |
5 Start |
|
|
Isodicentric 15 [267] |
|
October 14, 2006 |
5 Start |
|
|
Isovaleric acidemia [268] |
|
October 12, 2006 |
5 Start |
|
|
Jackson-Weiss syndrome [269] |
|
October 12, 2006 |
5 Start |
|
|
Jacobsen syndrome [270] |
|
October 16, 2006 |
5 Start |
|
|
Joubert syndrome [271] |
|
September 17, 2006 |
5 Start |
|
|
Kabuki syndrome [272] |
|
October 12, 2006 |
5 Start |
|
|
Kindler syndrome [273] |
|
October 16, 2006 |
5 Start |
|
|
Kniest dysplasia [274] |
|
October 12, 2006 |
5 Start |
|
|
Krabbe disease [275] |
|
October 16, 2006 |
5 Start |
|
|
Leber's hereditary optic neuropathy [276] |
|
October 16, 2006 |
5 Start |
|
|
Leigh's disease [277] |
|
October 17, 2006 |
5 Start |
|
|
Lethal white syndrome [278] |
|
October 16, 2006 |
5 Start |
|
|
Leukocyte adhesion deficiency [279] |
|
October 12, 2006 |
5 Start |
|
|
Li-Fraumeni syndrome [280] |
|
October 12, 2006 |
5 Start |
|
|
Lipid storage disorder [281] |
|
October 16, 2006 |
5 Start |
|
|
List of congenital disorders [282] |
|
January 7, 2007 |
5 Start |
|
|
Loeys-Dietz syndrome [283] |
|
October 16, 2006 |
5 Start |
|
|
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency [284] |
|
October 12, 2006 |
5 Start |
|
|
Lysinuric protein intolerance [285] |
|
October 12, 2006 |
5 Start |
|
|
MOMO syndrome [286] |
|
October 12, 2006 |
5 Start |
|
|
Maple syrup urine disease [287] |
|
October 12, 2006 |
5 Start |
|
|
McLeod syndrome [288] |
|
October 16, 2006 |
5 Start |
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency [289] |
|
October 12, 2006 |
5 Start |
|
|
Metachromatic leukodystrophy [290] |
|
October 16, 2006 |
5 Start |
|
|
Microcephaly [291] |
|
October 14, 2006 |
5 Start |
|
|
Molecular biology [292] |
|
February 14, 2008 |
5 Start |
|
|
Muscular dystrophy [293] |
|
September 17, 2006 |
5 Start |
|
|
N-Acetylglutamate synthase deficiency [294] |
|
November 16, 2006 |
5 Start |
|
|
Nonsyndromic deafness [295] |
|
October 17, 2006 |
5 Start |
|
|
Oculodentodigital syndrome [296] |
|
March 3, 2008 |
5 Start |
|
|
Omenn syndrome [297] |
|
October 2, 2006 |
5 Start |
|
|
Ornithine transcarbamylase deficiency [298] |
|
October 2, 2006 |
5 Start |
|
|
Otospondylomegaepiphyseal dysplasia [299] |
|
October 2, 2006 |
5 Start |
|
|
PSI (prion) [300] |
|
November 1, 2006 |
5 Start |
|
|
Pallister-Killian syndrome [301] |
|
October 2, 2006 |
5 Start |
|
|
Patau syndrome [302] |
|
October 2, 2006 |
5 Start |
|
|
Pelizaeus-Merzbacher disease [303] |
|
October 17, 2006 |
5 Start |
|
|
Penetrance [304] |
|
February 2, 2008 |
5 Start |
|
|
Peutz-Jeghers syndrome [305] |
|
October 2, 2006 |
5 Start |
|
|
Pfeiffer syndrome [306] |
|
October 2, 2006 |
5 Start |
|
|
Photic sneeze reflex [307] |
|
October 14, 2006 |
5 Start |
|
|
Popliteal pterygium syndrome [308] |
|
September 25, 2006 |
5 Start |
|
|
Porphyria cutanea tarda [309] |
|
September 22, 2006 |
5 Start |
|
|
Preimplantation genetic haplotyping [310] |
|
September 25, 2006 |
5 Start |
|
|
Primary carnitine deficiency [311] |
|
September 22, 2006 |
5 Start |
|
|
Primary ciliary dyskinesia [312] |
|
September 22, 2006 |
5 Start |
|
|
Propionic acidemia [313] |
|
September 22, 2006 |
5 Start |
|
|
Pyruvate carboxylase deficiency [314] |
|
October 17, 2006 |
5 Start |
|
|
Romano-Ward syndrome [315] |
|
September 20, 2006 |
5 Start |
|
|
Rubinstein-Taybi syndrome [316] |
|
October 16, 2006 |
5 Start |
|
|
SADDAN [317] |
|
September 19, 2006 |
5 Start |
|
|
Sandhoff disease [318] |
|
September 18, 2006 |
5 Start |
|
|
Sex linkage [319] |
|
September 17, 2006 |
5 Start |
|
|
Smith-Lemli-Opitz syndrome [320] |
|
September 17, 2006 |
5 Start |
|
|
Spondyloepimetaphyseal dysplasia, Strudwick type [321] |
|
September 17, 2006 |
5 Start |
|
|
Spondyloepiphyseal dysplasia congenita [322] |
|
September 17, 2006 |
5 Start |
|
|
TAR syndrome [323] |
|
September 17, 2006 |
5 Start |
|
|
Tangier disease [324] |
|
September 17, 2006 |
5 Start |
|
|
Thanatophoric dysplasia [325] |
|
September 17, 2006 |
5 Start |
|
|
Thyroid hormone resistance [326] |
|
September 17, 2006 |
5 Start |
|
|
VACTERL association [327] |
|
February 23, 2008 |
5 Start |
|
|
Vitelliform macular dystrophy [328] |
|
September 17, 2006 |
5 Start |
|
|
WAGR syndrome [329] |
|
September 17, 2006 |
5 Start |
|
|
Waardenburg syndrome [330] |
|
September 17, 2006 |
5 Start |
|
|
Williams syndrome [331] |
|
September 17, 2006 |
5 Start |
|
|
Wolf-Hirschhorn syndrome [332] |
|
September 17, 2006 |
5 Start |
|
|
X-linked adrenal hypoplasia congenita [333] |
|
September 17, 2006 |
5 Start |
|
|
X-linked dominant [334] |
|
September 17, 2006 |
5 Start |
|
|
X-linked ichthyosis [335] |
|
September 17, 2006 |
5 Start |
|
|
X-linked recessive [336] |
|
March 12, 2007 |
5 Start |
|
|
XY sex-determination system [337] |
|
March 21, 2008 |
5 Start |
|
|
ZW sex-determination system [338] |
|
February 23, 2008 |
5 Start |
|
|
Zellweger syndrome [339] |
|
October 16, 2006 |
5 Start |
|
|
ΔF508 [340] |
|
October 12, 2006 |
5 Start |
|
|
2-Methylbutyryl-CoA dehydrogenase deficiency [341] |
|
September 17, 2006 |
6 Stub |
|
|
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency [342] |
|
October 13, 2006 |
6 Stub |
|
|
49 XXXXY syndrome [343] |
|
September 17, 2006 |
6 Stub |
|
|
49, XXXXX [344] |
|
October 16, 2006 |
6 Stub |
|
|
6-Pyruvoyltetrahydropterin synthase deficiency [345] |
|
November 16, 2006 |
6 Stub |
|
|
ALA dehydratase deficiency [346] |
|
September 17, 2006 |
6 Stub |
|
|
ATR-X [347] |
|
September 26, 2006 |
6 Stub |
|
|
Abderhalden-Kaufmann-Lignac syndrome [348] |
|
September 17, 2006 |
6 Stub |
|
|
Acatalasemia [349] |
|
September 17, 2006 |
6 Stub |
|
|
Acatalasia [350] |
|
October 13, 2006 |
6 Stub |
|
|
Aceruloplasminemia [351] |
|
September 17, 2006 |
6 Stub |
|
|
Acrofacial dysostosis, Nager type [352] |
|
September 24, 2006 |
6 Stub |
|
|
Adducted thumb syndrome [353] |
|
September 17, 2006 |
6 Stub |
|
|
Adenine phosphoribosyltransferase deficiency [354] |
|
September 17, 2006 |
6 Stub |
|
|
Adenosine deaminase deficiency [355] |
|
September 17, 2006 |
6 Stub |
|
|
African iron overload [356] |
|
September 24, 2006 |
6 Stub |
|
|
Albinism in birds [357] |
|
June 10, 2007 |
6 Stub |
|
|
Alpha-mannosidosis [358] |
|
September 26, 2006 |
6 Stub |
|
|
Arakawa's syndrome II [359] |
|
September 26, 2006 |
6 Stub |
|
|
Arginemia [360] |
|
October 13, 2006 |
6 Stub |
|
|
Asymmetric crying facies [361] |
|
October 13, 2006 |
6 Stub |
|
|
Asymptomatic carrier [362] |
|
October 13, 2006 |
6 Stub |
|
|
Bannayan-Zonana syndrome [363] |
|
September 26, 2006 |
6 Stub |
|
|
Bare lymphocyte syndrome [364] |
|
October 15, 2006 |
6 Stub |
|
|
Bare lymphocyte syndrome 2 [365] |
|
October 15, 2006 |
6 Stub |
|
|
Beckwith-Wiedemann syndrome [366] |
|
September 26, 2006 |
6 Stub |
|
|
Behr's syndrome [367] |
|
September 26, 2006 |
6 Stub |
|
|
Berdon syndrome [368] |
|
September 26, 2006 |
6 Stub |
|
|
Blue diaper syndrome [369] |
|
September 26, 2006 |
6 Stub |
|
|
CCR2 [370] |
|
September 30, 2007 |
6 Stub |
|
|
Cadastral gene [371] |
|
February 27, 2008 |
6 Stub |
|
|
Carbamoyl phosphate synthetase I deficiency [372] |
|
October 15, 2006 |
6 Stub |
|
|
Carpenter syndrome [373] |
|
October 3, 2006 |
6 Stub |
|
|
Channelopathy [374] |
|
October 3, 2006 |
6 Stub |
|
|
Chromosome 15q partial deletion [375] |
|
October 4, 2006 |
6 Stub |
|
|
Chromosome 15q trisomy [376] |
|
October 4, 2006 |
6 Stub |
|
|
Chromosome 18 (human) [377] |
|
March 21, 2008 |
6 Stub |
|
|
Chromosome 19 (human) [378] |
|
March 21, 2008 |
6 Stub |
|
|
Chromosome 20 (human) [379] |
|
March 21, 2008 |
6 Stub |
|
|
Chromosome instability syndrome [380] |
|
October 16, 2006 |
6 Stub |
|
|
Classical genetics [381] |
|
February 27, 2008 |
6 Stub |
|
|
Congenital disorder of glycosylation [382] |
|
October 3, 2006 |
6 Stub |
|
|
Congenital muscular dystrophy [383] |
|
October 16, 2006 |
6 Stub |
|
|
Craniodiaphyseal dysplasia [384] |
|
October 12, 2006 |
6 Stub |
|
|
Dextrocardia [385] |
|
September 17, 2006 |
6 Stub |
|
|
Dihydropyrimidine dehydrogenase deficiency [386] |
|
February 23, 2008 |
6 Stub |
|
|
Dosage compensation [387] |
|
February 23, 2008 |
6 Stub |
|
|
Dystrophin [388] |
|
October 16, 2006 |
6 Stub |
|
|
Engelmann syndrome [389] |
|
October 12, 2006 |
6 Stub |
|
|
Episodic Ataxia Type-1 [390] |
|
October 16, 2006 |
6 Stub |
|
|
Erythropoietic protoporphyria [391] |
|
January 25, 2007 |
6 Stub |
|
|
Fetal Dilantin syndrome [392] |
|
September 17, 2006 |
6 Stub |
|
|
Flynn-Aird syndrome [393] |
|
October 16, 2006 |
6 Stub |
|
|
Fraser syndrome [394] |
|
October 12, 2006 |
6 Stub |
|
|
Frontotemporal dementia and parkinsonism linked to chromosome 17 [395] |
|
October 16, 2006 |
6 Stub |
|
|
Fukuyama congenital muscular dystrophy [396] |
|
October 3, 2006 |
6 Stub |
|
|
GAPO syndrome [397] |
|
October 12, 2006 |
6 Stub |
|
|
GM2-gangliosidosis, AB variant [398] |
|
October 12, 2006 |
6 Stub |
|
|
Galloway Mowat syndrome [399] |
|
October 12, 2006 |
6 Stub |
|
|
Gardner's syndrome [400] |
|
October 16, 2006 |
6 Stub |
|
|
Gitelman syndrome [401] |
|
October 12, 2006 |
6 Stub |
|
|
Glycogen storage disease type III [402] |
|
October 12, 2006 |
6 Stub |
|
|
Haemophilia C [403] |
|
October 12, 2006 |
6 Stub |
|
|
Hajdu-Cheney syndrome [404] |
|
October 12, 2006 |
6 Stub |
|
|
Hereditary fructose intolerance [405] |
|
September 17, 2006 |
6 Stub |
|
|
Hereditary multiple exostoses [406] |
|
October 12, 2006 |
6 Stub |
|
|
ICF syndrome [407] |
|
October 12, 2006 |
6 Stub |
|
|
Impossible syndrome [408] |
|
October 12, 2006 |
6 Stub |
|
|
Incontinentia pigmenti [409] |
|
October 12, 2006 |
6 Stub |
|
|
Jervell and Lange-Nielsen syndrome [410] |
|
October 9, 2006 |
6 Stub |
|
|
Kallman's Syndrome [411] |
|
October 16, 2006 |
6 Stub |
|
|
Kearns-Sayre syndrome [412] |
|
October 17, 2006 |
6 Stub |
|
|
Langer-Giedion syndrome [413] |
|
October 9, 2006 |
6 Stub |
|
|
Laron syndrome [414] |
|
July 16, 2007 |
6 Stub |
|
|
Larsen syndrome [415] |
|
October 9, 2006 |
6 Stub |
|
|
Laurence-Moon syndrome [416] |
|
October 9, 2006 |
6 Stub |
|
|
Liddle's syndrome [417] |
|
October 16, 2006 |
6 Stub |
|
|
Luxury gene [418] |
|
February 10, 2008 |
6 Stub |
|
|
MERRF syndrome [419] |
|
October 17, 2006 |
6 Stub |
|
|
Malonyl-CoA decarboxylase deficiency [420] |
|
October 9, 2006 |
6 Stub |
|
|
Mammarial trisomy [421] |
|
October 16, 2006 |
6 Stub |
|
|
Metachondromatosis [422] |
|
October 9, 2006 |
6 Stub |
|
|
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [423] |
|
October 9, 2006 |
6 Stub |
|
|
Mitochondrial trifunctional protein deficiency [424] |
|
October 5, 2006 |
6 Stub |
|
|
Moonrise (Penny Wolfson book) [425] |
|
October 17, 2006 |
6 Stub |
|
|
Mulibrey nanism [426] |
|
October 5, 2006 |
6 Stub |
|
|
Multiple endocrine neoplasia type 1 [427] |
|
October 5, 2006 |
6 Stub |
|
|
Multiple endocrine neoplasia type 2 [428] |
|
October 5, 2006 |
6 Stub |
|
|
Multiple osteochondromatosis [429] |
|
October 17, 2006 |
6 Stub |
|
|
Multiple sulfatase deficiency [430] |
|
March 30, 2008 |
6 Stub |
|
|
Myelokathexis [431] |
|
October 5, 2006 |
6 Stub |
|
|
Myeloperoxidase deficiency [432] |
|
October 5, 2006 |
6 Stub |
|
|
Myopathy [433] |
|
October 3, 2006 |
6 Stub |
|
|
Myotonia congenita [434] |
|
October 3, 2006 |
6 Stub |
|
|
Nager syndrome [435] |
|
October 24, 2006 |
6 Stub |
|
|
Nail-patella syndrome [436] |
|
September 27, 2006 |
6 Stub |
|
|
Neonatal hemochromatosis [437] |
|
October 3, 2006 |
6 Stub |
|
|
Nijmegen breakage syndrome [438] |
|
October 17, 2006 |
6 Stub |
|
|
Norrie disease [439] |
|
October 3, 2006 |
6 Stub |
|
|
Nullisomic [440] |
|
October 3, 2006 |
6 Stub |
|
|
Occipital horn syndrome [441] |
|
September 25, 2006 |
6 Stub |
|
|
Oculopharyngeal muscular dystrophy [442] |
|
October 3, 2006 |
6 Stub |
|
|
Pallister-Hall syndrome [443] |
|
October 2, 2006 |
6 Stub |
|
|
Pendred syndrome [444] |
|
October 2, 2006 |
6 Stub |
|
|
Phenylalanine hydroxylase [445] |
|
October 17, 2006 |
6 Stub |
|
|
Platyspondylic lethal skeletal dysplasia [446] |
|
December 7, 2006 |
6 Stub |
|
|
Platyspondylic lethal skeletal dysplasia, Torrance type [447] |
|
October 17, 2006 |
6 Stub |
|
|
Polychromia [448] |
|
September 25, 2006 |
6 Stub |
|
|
Progressive external ophthalmoplegia [449] |
|
October 17, 2006 |
6 Stub |
|
|
Recessive multiple epiphyseal dysplasia [450] |
|
September 22, 2006 |
6 Stub |
|
|
Ring chromosome 20 syndrome [451] |
|
October 16, 2006 |
6 Stub |
|
|
Rothmund-Thompson's syndrome [452] |
|
September 19, 2006 |
6 Stub |
|
|
Saethre-Chotzen syndrome [453] |
|
October 24, 2006 |
6 Stub |
|
|
Salla disease [454] |
|
September 17, 2006 |
6 Stub |
|
|
Schmitt Gillenwater Kelly syndrome [455] |
|
October 16, 2006 |
6 Stub |
|
|
Short-chain acyl-coenzyme A dehydrogenase deficiency [456] |
|
October 16, 2006 |
6 Stub |
|
|
Sideroblastic anemia [457] |
|
October 23, 2006 |
6 Stub |
|
|
Simpson-Golabi-Behmel syndrome [458] |
|
September 17, 2006 |
6 Stub |
|
|
Spondyloperipheral dysplasia [459] |
|
September 17, 2006 |
6 Stub |
|
|
Syndrome of Apparent Mineralocorticoid Excess [460] |
|
September 26, 2006 |
6 Stub |
|
|
The Cancer Genome Atlas [461] |
|
May 2, 2007 |
6 Stub |
|
|
Thomsen disease [462] |
|
September 17, 2006 |
6 Stub |
|
|
Timothy syndrome [463] |
|
September 17, 2006 |
6 Stub |
|
|
Trisomy 9 [464] |
|
September 17, 2006 |
6 Stub |
|
|
Turcot syndrome [465] |
|
September 17, 2006 |
6 Stub |
|
|
Tylosis [466] |
|
October 16, 2006 |
6 Stub |
|
|
Van Goethem syndrome [467] |
|
September 17, 2006 |
6 Stub |
|
|
Van der Woude syndrome [468] |
|
September 17, 2006 |
6 Stub |
|
|
Very long-chain acyl-coenzyme A dehydrogenase deficiency [469] |
|
September 17, 2006 |
6 Stub |
|
|
Walker-Warburg syndrome [470] |
|
October 16, 2006 |
6 Stub |
|
|
Weissenbacher-Zweymüller syndrome [471] |
|
September 17, 2006 |
6 Stub |
|
|
Wolfram syndrome [472] |
|
November 7, 2006 |
6 Stub |
|
|
X-linked alpha thalassemia mental retardation syndrome [473] |
|
October 16, 2006 |
6 Stub |
|
|
XX male syndrome [474] |
|
October 16, 2006 |
6 Stub |
|
|
ZAP70 deficiency [475] |
|
September 17, 2006 |
6 Stub |
|
|