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