Medical genetics pages progress grading scheme |
FA |
Reserved exclusively for articles that have received Featured article status after peer review. |
A-Class |
The article provides a well-written and complete description of a genetic condition or a medical genetics related topic, as described in How to write a Great Article. It should have sufficient external literature references, preferably from the "hard" scientific literature rather than websites (see Pubmed). It should be at the stage where it could at least be considered for featured article status. |
GA |
The article has passed through the Good article nomination process and been granted GA status, meeting the good article standards. This should be used for articles that still need some work to reach featured article standards, but that are otherwise good. Good articles that may succeed in FAC should be considered A-Class articles, but being a Good article is not a requirement for A-Class. |
B-Class |
The article is "almost there" but it may be missing one of the following: a data table, balance of content, or an important section. Alternatively, the English may need a comprehensive rewrite to make it flow. |
Start |
The article has a good amount of content, but it is still weak in certain areas, and may lack a table. |
Stub |
The article is either a very short article or a stub that will need a lot of work to bring it to A-Class level, although there may be a significant amount of material in the article. |
Contact with WP Medical genetics |
Article
|
|
Date
|
|
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Comments
|
Asperger syndrome [1] |
|
September 26, 2006 |
FA |
0.5 |
|
Coeliac disease [2] |
|
March 26, 2007 |
FA |
|
|
Cystic fibrosis [3] |
|
September 17, 2006 |
FA |
0.5 |
|
Down syndrome [4] |
|
September 17, 2006 |
FA |
0.5 |
|
Lesch-Nyhan syndrome [5] |
|
September 21, 2006 |
FA |
0.5 |
|
Tourette syndrome [6] |
|
November 2, 2006 |
FA |
0.5 |
|
22q11.2 deletion syndrome [7] |
|
September 17, 2006 |
A |
|
|
Albinism [8] |
|
September 17, 2006 |
A |
0.5 |
|
Androgen insensitivity syndrome [9] |
|
September 22, 2006 |
A |
|
|
Color blindness [10] |
|
September 17, 2006 |
A |
0.5 |
|
Cytogenetics [11] |
|
September 17, 2006 |
A |
|
|
Familial Alzheimer disease [12] |
|
September 17, 2006 |
A |
|
|
Familial dysautonomia [13] |
|
October 12, 2006 |
A |
|
|
Familial hemiplegic migraine [14] |
|
October 16, 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 |
|
|
Congenital adrenal hyperplasia [51] |
|
October 12, 2006 |
B |
|
|
Congenital hyperinsulinism [52] |
|
October 12, 2006 |
B |
|
|
Crouzon syndrome [53] |
|
October 12, 2006 |
B |
|
|
Cystic fibrosis transmembrane conductance regulator [54] |
|
October 16, 2006 |
B |
|
|
Diamond-Blackfan anemia [55] |
|
October 12, 2006 |
B |
|
|
Dor Yeshorim [56] |
|
October 12, 2006 |
B |
|
|
Duchenne muscular dystrophy [57] |
|
September 17, 2006 |
B |
0.5 |
|
Edwards syndrome [58] |
|
October 12, 2006 |
B |
|
|
Facioscapulohumeral muscular dystrophy [59] |
|
October 16, 2006 |
B |
|
|
Familial Mediterranean fever [60] |
|
October 12, 2006 |
B |
|
|
Familial adenomatous polyposis [61] |
|
October 12, 2006 |
B |
|
|
Fragile X syndrome [62] |
|
October 12, 2006 |
B |
|
|
Fructose malabsorption [63] |
|
October 12, 2006 |
B |
|
|
Gaucher's disease [64] |
|
October 12, 2006 |
B |
|
|
Gene therapy [65] |
|
January 12, 2007 |
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 |
0.5 |
|
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 |
|
|
List of congenital disorders [246] |
|
January 7, 2007 |
Start |
|
|
Loeys-Dietz syndrome [247] |
|
October 16, 2006 |
Start |
|
|
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency [248] |
|
October 12, 2006 |
Start |
|
|
Lysinuric protein intolerance [249] |
|
October 12, 2006 |
Start |
|
|
MOMO syndrome [250] |
|
October 12, 2006 |
Start |
|
|
Maple syrup urine disease [251] |
|
October 12, 2006 |
Start |
|
|
McLeod syndrome [252] |
|
October 16, 2006 |
Start |
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency [253] |
|
October 12, 2006 |
Start |
|
|
Metachromatic leukodystrophy [254] |
|
October 16, 2006 |
Start |
|
|
Microcephaly [255] |
|
October 14, 2006 |
Start |
|
|
Muscular dystrophy [256] |
|
September 17, 2006 |
Start |
|
|
N-Acetylglutamate synthase deficiency [257] |
|
November 16, 2006 |
Start |
|
|
Nonsyndromic deafness [258] |
|
October 17, 2006 |
Start |
|
|
Omenn syndrome [259] |
|
October 2, 2006 |
Start |
|
|
Ornithine transcarbamylase deficiency [260] |
|
October 2, 2006 |
Start |
|
|
Otospondylomegaepiphyseal dysplasia [261] |
|
October 2, 2006 |
Start |
|
|
PSI (prion) [262] |
|
November 1, 2006 |
Start |
|
|
Pallister-Killian syndrome [263] |
|
October 2, 2006 |
Start |
|
|
Patau syndrome [264] |
|
October 2, 2006 |
Start |
|
|
Pelizaeus-Merzbacher disease [265] |
|
October 17, 2006 |
Start |
|
|
Peutz-Jeghers syndrome [266] |
|
October 2, 2006 |
Start |
|
|
Pfeiffer syndrome [267] |
|
October 2, 2006 |
Start |
|
|
Photic sneeze reflex [268] |
|
October 14, 2006 |
Start |
|
|
Popliteal pterygium syndrome [269] |
|
September 25, 2006 |
Start |
|
|
Porphyria cutanea tarda [270] |
|
September 22, 2006 |
Start |
|
|
Preimplantation Genetic Haplotyping [271] |
|
September 25, 2006 |
Start |
|
|
Primary carnitine deficiency [272] |
|
September 22, 2006 |
Start |
|
|
Primary ciliary dyskinesia [273] |
|
September 22, 2006 |
Start |
|
|
Propionic acidemia [274] |
|
September 22, 2006 |
Start |
|
|
Pyruvate carboxylase deficiency [275] |
|
October 17, 2006 |
Start |
|
|
Romano-Ward syndrome [276] |
|
September 20, 2006 |
Start |
|
|
Rubinstein-Taybi syndrome [277] |
|
October 16, 2006 |
Start |
|
|
SADDAN [278] |
|
September 19, 2006 |
Start |
|
|
Sandhoff disease [279] |
|
September 18, 2006 |
Start |
|
|
Sex linkage [280] |
|
September 17, 2006 |
Start |
|
|
Smith-Lemli-Opitz syndrome [281] |
|
September 17, 2006 |
Start |
|
|
Spondyloepimetaphyseal dysplasia, Strudwick type [282] |
|
September 17, 2006 |
Start |
|
|
Spondyloepiphyseal dysplasia congenita [283] |
|
September 17, 2006 |
Start |
|
|
TAR syndrome [284] |
|
September 17, 2006 |
Start |
|
|
Tangier disease [285] |
|
September 17, 2006 |
Start |
|
|
Thanatophoric dysplasia [286] |
|
September 17, 2006 |
Start |
|
|
Thyroid hormone resistance [287] |
|
September 17, 2006 |
Start |
|
|
Vitelliform macular dystrophy [288] |
|
September 17, 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 |
|
|
X-linked recessive [296] |
|
March 12, 2007 |
Start |
|
|
Zellweger syndrome [297] |
|
October 16, 2006 |
Start |
|
|
ΔF508 [298] |
|
October 12, 2006 |
Start |
|
|
2,8 dihydroxy-adenine urolithiasis [299] |
|
September 17, 2006 |
Stub |
|
|
2-Methylbutyryl-CoA dehydrogenase deficiency [300] |
|
September 17, 2006 |
Stub |
|
|
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency [301] |
|
October 13, 2006 |
Stub |
|
|
49 XXXXY syndrome [302] |
|
September 17, 2006 |
Stub |
|
|
6-Pyruvoyltetrahydropterin synthase deficiency [303] |
|
November 16, 2006 |
Stub |
|
|
ALA dehydratase deficiency [304] |
|
September 17, 2006 |
Stub |
|
|
ATR-X [305] |
|
September 26, 2006 |
Stub |
|
|
Abderhalden-Kaufmann-Lignac syndrome [306] |
|
September 17, 2006 |
Stub |
|
|
Acatalasemia [307] |
|
September 17, 2006 |
Stub |
|
|
Acatalasia [308] |
|
October 13, 2006 |
Stub |
|
|
Aceruloplasminemia [309] |
|
September 17, 2006 |
Stub |
|
|
Acrofacial dysostosis, Nager type [310] |
|
September 24, 2006 |
Stub |
|
|
Adducted thumb syndrome [311] |
|
September 17, 2006 |
Stub |
|
|
Adenosine deaminase deficiency [312] |
|
September 17, 2006 |
Stub |
|
|
African iron overload [313] |
|
September 24, 2006 |
Stub |
|
|
Alpha-mannosidosis [314] |
|
September 26, 2006 |
Stub |
|
|
Apparent mineralocorticoid excess [315] |
|
September 26, 2006 |
Stub |
|
|
Arakawa's syndrome II [316] |
|
September 26, 2006 |
Stub |
|
|
Arginemia [317] |
|
October 13, 2006 |
Stub |
|
|
Asymmetric crying facies [318] |
|
October 13, 2006 |
Stub |
|
|
Asymptomatic carrier [319] |
|
October 13, 2006 |
Stub |
|
|
Bannayan-Zonana syndrome [320] |
|
September 26, 2006 |
Stub |
|
|
Bare lymphocyte syndrome [321] |
|
October 15, 2006 |
Stub |
|
|
Bare lymphocyte syndrome 2 [322] |
|
October 15, 2006 |
Stub |
|
|
Beckwith-Wiedemann syndrome [323] |
|
September 26, 2006 |
Stub |
|
|
Behr's syndrome [324] |
|
September 26, 2006 |
Stub |
|
|
Berdon syndrome [325] |
|
September 26, 2006 |
Stub |
|
|
Blue diaper syndrome [326] |
|
September 26, 2006 |
Stub |
|
|
CDG syndrome [327] |
|
October 3, 2006 |
Stub |
|
|
Carbamoyl phosphate synthetase I deficiency [328] |
|
October 15, 2006 |
Stub |
|
|
Carpenter syndrome [329] |
|
October 3, 2006 |
Stub |
|
|
Channelopathy [330] |
|
October 3, 2006 |
Stub |
|
|
Chromosome 15q partial deletion [331] |
|
October 4, 2006 |
Stub |
|
|
Chromosome 15q trisomy [332] |
|
October 4, 2006 |
Stub |
|
|
Chromosome instability syndrome [333] |
|
October 16, 2006 |
Stub |
|
|
Congenital muscular dystrophy [334] |
|
October 16, 2006 |
Stub |
|
|
Copper toxicosis [335] |
|
October 12, 2006 |
Stub |
|
|
Craniodiaphyseal dysplasia [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 |
|
|
Erythropoietic protoporphyria [341] |
|
January 25, 2007 |
Stub |
|
|
Fetal Dilantin Syndrome [342] |
|
September 17, 2006 |
Stub |
|
|
Flynn Aird syndrome [343] |
|
October 16, 2006 |
Stub |
|
|
Fraser syndrome [344] |
|
October 12, 2006 |
Stub |
|
|
Frontotemporal dementia and parkinsonism linked to chromosome 17 [345] |
|
October 16, 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 fructose intolerance [355] |
|
September 17, 2006 |
Stub |
|
|
Hereditary multiple exostoses [356] |
|
October 12, 2006 |
Stub |
|
|
Immunodeficiency, centromere instability and facial anomalies syndrome [357] |
|
October 12, 2006 |
Stub |
|
|
Impossible syndrome [358] |
|
October 12, 2006 |
Stub |
|
|
Incontinentia pigmenti [359] |
|
October 12, 2006 |
Stub |
|
|
Jervell and Lange-Nielsen syndrome [360] |
|
October 9, 2006 |
Stub |
|
|
Kallman's Syndrome [361] |
|
October 16, 2006 |
Stub |
|
|
Kearns-Sayre syndrome [362] |
|
October 17, 2006 |
Stub |
|
|
Langer-Giedion syndrome [363] |
|
October 9, 2006 |
Stub |
|
|
Larsen syndrome [364] |
|
October 9, 2006 |
Stub |
|
|
Laurence-Moon syndrome [365] |
|
October 9, 2006 |
Stub |
|
|
Liddle's syndrome [366] |
|
October 16, 2006 |
Stub |
|
|
List of genetic disorders-2 |
|
January 7, 2007 |
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 encephalomyopathy, lactic acidosis, and stroke-like episodes [371] |
|
October 9, 2006 |
Stub |
|
|
Mitochondrial trifunctional protein deficiency [372] |
|
October 5, 2006 |
Stub |
|
|
Moonrise [373] |
|
October 17, 2006 |
Stub |
|
|
Mulibrey nanism [374] |
|
October 5, 2006 |
Stub |
|
|
Multiple endocrine neoplasia type 1 [375] |
|
October 5, 2006 |
Stub |
|
|
Multiple endocrine neoplasia type 2 [376] |
|
October 5, 2006 |
Stub |
|
|
Multiple osteochondromatosis [377] |
|
October 17, 2006 |
Stub |
|
|
Myelokathexis [378] |
|
October 5, 2006 |
Stub |
|
|
Myeloperoxidase deficiency [379] |
|
October 5, 2006 |
Stub |
|
|
Myopathy [380] |
|
October 3, 2006 |
Stub |
|
|
Myotonia congenita [381] |
|
October 3, 2006 |
Stub |
|
|
Nager syndrome [382] |
|
October 24, 2006 |
Stub |
|
|
Nail-patella syndrome [383] |
|
September 27, 2006 |
Stub |
|
|
Neonatal hemochromatosis [384] |
|
October 3, 2006 |
Stub |
|
|
Nijmegen breakage syndrome [385] |
|
October 17, 2006 |
Stub |
|
|
Norrie disease [386] |
|
October 3, 2006 |
Stub |
|
|
Nullisomic [387] |
|
October 3, 2006 |
Stub |
|
|
Occipital horn syndrome [388] |
|
September 25, 2006 |
Stub |
|
|
Oculopharyngeal muscular dystrophy [389] |
|
October 3, 2006 |
Stub |
|
|
Pallister-Hall syndrome [390] |
|
October 2, 2006 |
Stub |
|
|
Pendred syndrome [391] |
|
October 2, 2006 |
Stub |
|
|
Phenylalanine hydroxylase [392] |
|
October 17, 2006 |
Stub |
|
|
Platyspondylic lethal skeletal dysplasia [393] |
|
December 7, 2006 |
Stub |
|
|
Platyspondylic lethal skeletal dysplasia, Torrance type [394] |
|
October 17, 2006 |
Stub |
|
|
Polychromia [395] |
|
September 25, 2006 |
Stub |
|
|
Progressive external ophthalmoplegia [396] |
|
October 17, 2006 |
Stub |
|
|
Recessive multiple epiphyseal dysplasia [397] |
|
September 22, 2006 |
Stub |
|
|
Ring chromosome 20 syndrome [398] |
|
October 16, 2006 |
Stub |
|
|
Rothmund-Thompson's syndrome [399] |
|
September 19, 2006 |
Stub |
|
|
Saethre-Chotzen syndrome [400] |
|
October 24, 2006 |
Stub |
|
|
Salla disease [401] |
|
September 17, 2006 |
Stub |
|
|
Schmitt Gillenwater Kelly syndrome [402] |
|
October 16, 2006 |
Stub |
|
|
Short-chain acyl-coenzyme A dehydrogenase deficiency [403] |
|
October 16, 2006 |
Stub |
|
|
Sideroblastic anemia [404] |
|
October 23, 2006 |
Stub |
|
|
Simpson-Golabi-Behmel syndrome [405] |
|
September 17, 2006 |
Stub |
|
|
Spondyloperipheral dysplasia [406] |
|
September 17, 2006 |
Stub |
|
|
Thomsen disease [407] |
|
September 17, 2006 |
Stub |
|
|
Timothy syndrome [408] |
|
September 17, 2006 |
Stub |
|
|
Trisomy 9 [409] |
|
September 17, 2006 |
Stub |
|
|
Turcot syndrome [410] |
|
September 17, 2006 |
Stub |
|
|
Tylosis [411] |
|
October 16, 2006 |
Stub |
|
|
VACTERL association [412] |
|
October 16, 2006 |
Stub |
|
|
Van Goethem syndrome [413] |
|
September 17, 2006 |
Stub |
|
|
Van der Woude syndrome [414] |
|
September 17, 2006 |
Stub |
|
|
Very long-chain acyl-coenzyme A dehydrogenase deficiency [415] |
|
September 17, 2006 |
Stub |
|
|
Walker-Warburg syndrome [416] |
|
October 16, 2006 |
Stub |
|
|
Weissenbacher-Zweymüller syndrome [417] |
|
September 17, 2006 |
Stub |
|
|
Wolfram syndrome [418] |
|
November 7, 2006 |
Stub |
|
|
X-linked alpha thalassemia mental retardation syndrome [419] |
|
October 16, 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 |
|
|
See also: assessed article categories. |
Last update: April 4, 2007 |