| 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 |
|
|