Wikipedia:WikiProject Missing encyclopedic articles/Missing diseases/2

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  1. Bébé Collodion syndrome
  2. Baber's syndrome
  3. Bagatelle Cassidy syndrome
  4. Bahemuka Brown syndrome
  5. Baker Vinters syndrome
  6. Baker-Winegard syndrome
  7. Bamforth syndrome
  8. Banki syndrome [1], [2] & [3]
  9. Baraitser Brett Piesowicz syndrome [4], OMIM had a page ([5]) but redirects it to [6]. The 3 authors have published about that one but not sure whether their names is a notable synonum of that disease.
  10. Baraitser Rodeck Garner syndrome [7], [8]
  11. Barber Say syndrome [9], [10]
  12. Barnicoat Baraitser syndrome
  13. Barrow Fitzsimmons syndrome
  14. Bartsocas Papa syndrome
  15. Bartter's disease - Only one ref of it being refered to as a Disease: [11].
  16. Basal cell nevus anodontia abnormal bone mineralization
  17. Basan syndrome [12][13]
  18. Basaran Yilmaz syndrome [14]
  19. Basedow's coma [15]
  20. Basilar impression primary --Main article should be--> Primary basilar impression [16]
  21. Bassoe syndrome [17]
  22. Battaglia Neri syndrome [18]
  23. Batten Turner muscular dystrophy [19]
  24. Baughman syndrome [20]
  25. Bazopoulou Kyrkanidou syndrome
  26. Bd syndrome[21]
  27. Beardwell syndrome
  28. Beemer Ertbruggen syndrome [22], [23]
  29. Behrens Baumann Dust syndrome [24]
  30. Bellini Chiumello Rinoldi syndrome --Mispelling of--> Bellini Chiumello Rimoldi syndrome [25] as shown here: [26] (see author's name).
  31. Ben Ari Shuper Mimouni syndrome [27]
  32. Benallegue Lacete syndrome [28]
  33. Bencze syndrome [29]
  34. Benign autosomal dominant myopathy
  35. Benign familial infantile convulsions BFIC [[30]], [31], [32], [33]
  36. Benign lymphoma [34]
  37. Bentham Driessen Hanveld syndrome
  38. Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification - [35], [36]
  39. Beta-galactosidase-1 deficiency - [37],
  40. Beta-sarcoglycanopathy - [38], [39]
  41. Bidirectional tachycardia - [40]
  42. Biemond syndrome type 1 [41]
  43. Biemond syndrome type 2 [42]
  44. Biermer disease -[43] (Not sure if it incorrectly refers to biermer/addison's anemia).
  45. Bifid nose dominant - Bifid nose, [44], [45]
  46. Biliary atresia, intrahepatic, non syndromic form [46]
  47. Biliary atresia, intrahepatic, syndromic form [47]
  48. Biliary hypoplasia [48]
  49. Biliary malformation renal tubular insufficiency [49]
  50. Billard Toutain Maheut syndrome
  51. Billet Bear syndrome [50]
  52. Bindewald Ulmer Muller syndrome [51], [52] Fallot complex
  53. Bird headed dwarfism Montreal type [53] Distinct from Bird headed dwarfism.
  54. Bixler Christian Gorlin syndrome aka HMC syndrome [54], [55]
  55. Blaichman syndrome [56]
  56. Blepharo cheilo dontic syndrome aka BCD syndrome, Blepharocheilodontic syndrome Elschnig syndrome [57], [58]
  57. Blepharo facio skeletal syndrome [59]
  58. Blepharophimosis nasal groove growth retardation
  59. Blepharophimosis ptosis esotropia syndactyly short
  60. Blepharophimosis ptosis syndactyly mental retardation
  61. Blepharophimosis syndrome Ohdo type aka Ohdo blepharophimosis syndrome, - [60], [61]
  62. Blepharoptosis aortic anomaly [62] (Main article is in Ptosis (eyelid)
  63. Blepharoptosis cleft palate ectrodactyly dental anomalies [63]
  64. Blepharoptosis myopia ectopia lentis [64] [65]
  65. Blethen Wenick Hawkins syndrome [66]
  66. Blomstrand syndrome - Is it referring to Blomstrand chondrodysplasia aka Chondrodysplasia Blomstrand? [67] and [68]
  67. Blood vessel disorder --Diseases databases suggests--> Blood vessel trauma
  68. BOD syndrome --Short for--> Brachymorphism-onychodysplasia-dysphalangism syndrome [69]
  69. Boder syndrome
  70. Bone development disorder
  71. Bone dysplasia Azouz type
  72. Bone dysplasia corpus callosum agenesis [70]
  73. Bone dysplasia lethal Holmgren type [71]
  74. Bone dysplasia Moore type [72]
  75. Bone marrow failure neurologic abnormalities
  76. Bonneau-Beaumont syndrome [73]
  77. Bonneman Meinecke Reich syndrome [74]
  78. Bonnemann Meinecke syndrome [75]
  79. Book syndrome --also known as--> PHC syndrome or Premolar aplasia, hyperhidrosis, and canities prematura syndrome [76]
  80. Booth Haworth Dilling syndrome
  81. Bork Stender Schmidt syndrome
  82. Borrone Di Rocco Crovato syndrome --also known as--> Borrone dermato-cardio-skeletal syndrome or Borrone dermatocardioskeletal syndrome [77] [78]
  83. Boscherini Galasso Manca Bitti syndrome [79]
  84. Bosma Henkin Christiansen syndrome [80]
  85. Bosma Arhinia Microphthalmia syndrome [81]
  86. Boucher Neuhauser syndrome [82]
  87. Boudhina Yedes Khiari syndrome
  88. Bowen syndrome
  89. Bowing congenital short bones [83]
  90. Bowing of long bones congenital [84]
  91. Boylan Dew Greco syndrome [85]
  92. Brachioskeletogenital syndrome --also known as--> BSG syndrome [86]
  93. Brachycephalofrontonasal dysplasia
  94. Brachycephaly deafness cataract mental retardation
  95. Brachydactylous dwarfism Mseleni type
  96. Brachydactyly absence of distal phalanges
  97. Brachydactyly anonychia
  98. Brachydactyly dwarfism mental retardation
  99. Brachydactyly elbow wrist dysplasia
  100. Brachydactyly hypertension
  101. Brachydactyly long thumb type
  102. Brachydactyly mesomelia mental retardation heart defects
  103. Brachydactyly nystagmus cerebellar ataxia
  104. Brachydactyly preaxial hallux varus
  105. Brachydactyly scoliosis carpal fusion
  106. Brachydactyly small stature face anomalies
  107. Brachydactyly tibial hypoplasia
  108. Brachymesomelia renal syndrome
  109. Brachymesophalangy mesomelic short limbs osseous anomalies
  110. Brachymesophalangy type 2
  111. Brachymetapody anodontia hypotrichosis albinoidism
  112. Brachymorphism onychodysplasia dysphalangism syndrome
  113. Brachyolmia recessive Hobaek type
  114. Brachyolmia
  115. Brachytelephalangy characteristic facies Kallmann
  116. Braddock Carey syndrome
  117. Braddock Jones Superneau syndrome
  118. Brain Stem Neoplasms
  119. Branchial arch defects
  120. Branchial arch syndrome X linked
  121. Branchio oculo facial syndrome Hing type
  122. Breast and ovarian cancer
  123. Brittle bone syndrome lethal type
  124. Brittle cornea syndrome
  125. Broad-betalipoproteinemia
  126. Bronchiectasis oligospermia
  127. Bronchiolitis obliterans with obstructive pulmonary disease
  128. Bronchopulmonary amyloidosis
  129. Brunoni syndrome
  130. Bruyn Scheltens syndrome
  131. Bulbospinal amyotrophy, X-linked
  132. Bull Nixon syndrome
  133. Bullous dystrophy macular type
  134. Bullous ichtyosiform erythroderma congenita
  135. Buntinx Lormans Martin syndrome
  136. Burn Goodship syndrome
  137. Burnett Schwartz Berberian syndrome
  138. Burning mouth syndrome- Type 3
  139. Bustos Simosa Pinto Cisternas syndrome
  140. Buttiens Fryns syndrome
  141. Butyrylcholinesterase deficiency
  142. C1 esterase deficiency, (type 2 with ascites)
  143. CACH syndrome
  144. CAHMR syndrome
  145. Calderon Gonzalez Cantu syndrome
  146. Calloso genital dysplasia
  147. Callus disease
  148. Calpainopathy
  149. Calvarial hyperostosis
  150. Camera Marugo -Cohen syndrome
  151. Campomelia Cumming type
  152. Camptobrachydactyly
  153. Camptocormism
  154. Camptodactyly fibrous tissue hyperplasia skeletal dysplasia
  155. Camptodactyly joint contractures facial skeletal dysplasia
  156. Camptodactyly overgrowth unusual facies
  157. Camptodactyly syndrome Guadalajara type 1
  158. Camptodactyly syndrome Guadalajara type 2
  159. Camptodactyly taurinuria
  160. Camptodactyly vertebral fusion
  161. Camptomelic syndrome
  162. Candidiasis familial chronic
  163. Cantalamessa Baldini Ambrosi syndrome
  164. Cantu Sanchez Corona Fragoso syndrome
  165. Cantu Sanchez Corona Garcia syndrome
  166. Cantu Sanchez Corona Hernandes syndrome
  167. Capillary leak syndrome with monoclonal gammopathy
  168. Capillary venous leptomeningeal angiomatosis
  169. Capos syndrome
  170. Caratolo Cilio Pessagno syndrome
  171. Carbamoyl-phosphate synthase I deficiency disease (ornithine carbamoyl phosphate deficiency)
  172. Carbon baby syndrome
  173. Carbonic anhydrase II deficiency
  174. Carcinoma of the vocal tract
  175. Cardiac and laterality defects
  176. Cardiac conduction defect, familial
  177. Cardiac diverticulum
  178. Cardiac hydatid cysts with intracavitary expansion
  179. Cardiac malformation
  180. Cardiac valvular dysplasia, X-linked
  181. Cardioauditory syndrome of Sanchez- Cascos
  182. Cardioauditory syndrome
  183. Cardiofacial syndrome short limbs
  184. Cardiogenital syndrome
  185. Cardiomelic syndrome Stratton Koehler type
  186. Cardiomyopathic lentiginosis
  187. Cardiomyopathy cataract hip spine disease
  188. Cardiomyopathy diabetes deafness
  189. Cardiomyopathy dilated with conduction defect type 1
  190. Cardiomyopathy due to anthracyclines
  191. Cardiomyopathy hearing loss type t RNA lysine gene mutation
  192. Cardiomyopathy hypogonadism metabolic anomalies
  193. Cardiomyopathy spherocytosis
  194. Cardiomyopathy, familial hypertrophic
  195. Cardiomyopathy, fatal fetal, due to myocardial calcification
  196. Cardiomyopathy, X linked, fatal infantile
  197. Cardioskeletal myopathy-neutropenia
  198. Carey Fineman Ziter syndrome
  199. Carnevale Canun Mendoza syndrome
  200. Carnevale Hernandez Castillo syndrome
  201. Carnevale Krajewska Fischetto syndrome
  202. Carpal deformity migrognathia microstomia
  203. Carpenter Hunter type
  204. Carpo tarsal osteolysis recessive
  205. Carpotarsal osteochondromatosis
  206. Cartilage hair hypoplasia like syndrome
  207. Cartilaginous neoplasms
  208. Cartwright Nelson Fryns syndrome
  209. Cassia Stocco Dos Santos syndrome
  210. Castro Gago Pombo Novo syndrome
  211. Cat Rodrigues syndrome
  212. Cataract aberrant oral frenula growth retardation
  213. Cataract anterior polar dominant
  214. Cataract ataxia deafness
  215. Cataract cardiomyopathy
  216. Cataract congenital autosomal dominant
  217. Cataract congenital dominant non nuclear
  218. Cataract congenital Volkmann type
  219. Cataract congenital with microphthalmia
  220. Cataract dental syndrome
  221. Cataract Hutterite type
  222. Cataract hypertrichosis mental retardation
  223. Cataract mental retardation hypogonadism
  224. Cataract microphthalmia septal defect
  225. Cataract skeletal anomalies
  226. Cataract, alopecia, sclerodactyly
  227. Cataract, congenital, with microcornea or slight microphthalmia
  228. Cataract, total congenital
  229. Cataract,congenital ichthyosis
  230. Cataract-glaucoma
  231. Catecholamine hypertension
  232. Caudal appendage deafness
  233. Caudal duplication
  234. CCA syndrome
  235. Ccge syndrome
  236. CDG syndrome type 1B
  237. CDG syndrome type 1C
  238. CDG syndrome type 2
  239. CDG syndrome type 3
  240. CDG syndrome type 4
  241. CDK4 linked melanoma
  242. Cecato De lima Pinheiro syndrome
  243. Celiac disease epilepsy occipital calcifications
  244. Cennamo Gangemi syndrome
  245. Central nervous system protozoal infections
  246. Central type neurofibromatosis
  247. Centromeric instability immunodeficiency syndrome
  248. Centrotemporal epilepsy
  249. Cephalopolysyndactyly
  250. Cerebellar ataxia areflexia pes cavus optic atrophy
  251. Cerebellar ataxia ectodermal dysplasia
  252. Cerebellar ataxia infantile with progressive external ophthalmoplegia
  253. Cerebellar ataxia, dominant pure
  254. Cerebellar degeneration, subacute
  255. Cerebellar degeneration
  256. Cerebellar hypoplasia endosteal sclerosis
  257. Cerebellar hypoplasia tapetoretinal degeneration
  258. Cerebellar parenchymal degeneration
  259. Cerebelloolivary atrophy
  260. Cerebelloparenchymal disorder 3
  261. Cerebellum agenesis hydrocephaly
  262. Cerebral calcification cerebellar hypoplasia
  263. Cerebral calcifications opalescent teeth phosphaturia
  264. Cerebral gigantism jaw cysts
  265. Cerebral malformations hypertrichosis claw hands
  266. Cerebral ventricle neoplasm
  267. Cerebro facio thoracic dysplasia -AKA: Pascual-Castroviejo syndrome and Cerebrofaciothoracic dysplasia (from [87] and [88]
  268. Cerebro oculo dento auriculo skeletal syndrome -AKA: CODAS syndrome (from [89] and [90]
  269. Cerebro oculo genital syndrome -AKA: Duker-Weiss-Siber syndrome (from [91]).
  270. Cerebro oculo skeleto renal syndrome -AKA: Silengo-Lerone-Pelizzo syndrome (from [92]).
  271. Cerebro reno digital syndrome -AKA: Cerebro-reno-digital syndrome and Meckel-like syndrome. Orphanet subsequently links here: [93], [94] and [95].
  272. Cerebroarthrodigital syndrome -[96]
  273. Cerebro-costo-mandibular syndrome -AKA's include: Cerebrocostomandibular syndrome, Rib gap defect-micrognathia syndrome, Smith-Theiler-Schachenmann syndrome (from [97]). Others include CCM syndrome (from [98]). Also see: [99]
  274. Cerebroretinal vasculopathy [100] abbreviated CRV and AKA: Grand-Kaine-Fulling syndrome or Hereditary cerebroretinal vasculopathy [101]
  275. Cervical hypertrichosis neuropathy [102] [103] (same linking as one below?)
  276. Cervical hypertrichosis peripheral neuropathy [104] [105]
  277. Cervical ribs sprengel anomaly polydactyly [106] [107]
  278. Chanarin disease
  279. Chand syndrome [108] AKA: CHAND syndrome CHANDS Curly hair-ankyloblepharon-nail dysplasia syndrome and Baughman syndrome [109]
  280. Char syndrome [110], [111]
  281. Charcot-Marie-Tooth disease, intermediate form [112]
  282. Charles' Disease
  283. Charlie M syndrome [113]
  284. Chemke Oliver Mallek syndrome [114]
  285. Chitayat Haj Chahine syndrome
  286. Chitayat Meunier Hodgkinson syndrome [115] [116] also known as Mild campomelic dysplasia, campomelic dysplasia, mild
  287. Chitayat Moore Del Bigio syndrome [117]
  288. Chitty Hall Baraitser syndrome [118] [119]
  289. Chitty Hall Webb syndrome [120] [121]
  290. Chlamydial and Gonococcal Conjunctivitis
  291. Choanal atresia deafness cardiac defects dysmorphia [122]
  292. Choledochal cyst, hand malformation [123]
  293. Cholemia, familial [124] or Familial cholemia, Congenital familial cholemia?
  294. Cholestasis pigmentary retinopathy cleft palate is it referring to Hardikar syndrome? [125]
  295. Cholestatic jaundice renal tubular insufficiency [126]
  296. Cholesterol esterification disorder
  297. Chondrodysplasia lethal recessive or Recessive lethal chondrodysplasia [127]
  298. Chondrodysplasia pseudohermaphrodism syndrome --also known as-->Pseudohermaphrodism and chondrodysplasia,[[128]] [129]
  299. Chondrodysplasia punctata with steroid sulfatase deficiency
  300. Chondrodysplasia punctata, Sheffield type
  301. Chondrodysplasia situs inversus imperforate anus polydactyly [130]
  302. Chondrodysplasia, Grebe type --also known as --> Grebe dysplasia, Grebe chondrodysplasia syndrome, Achondrogenesis-hypochondrogenesis syndrome type 2 and Acromesomelic dysplasia, Grebe type [131], [132], [133] (which also names it as Grebe's syndrome, Grebe syndrome, Quelce-Salgado syndrome and Nonlethal achondrogenesis Quelce-Salgado --named after--> Hans Grebe and Antônio Quelce-Salgado
  303. Chondromatosis (benign)
  304. Chondrodysplasia punctata, humero-metacarpal type [134]
  305. Chorea familial benign --also known as--> Benign Hereditary Chorea [135]
  306. Choreoacanthocytosis amyotrophic [136], [137]
  307. Chorioretinopathy dominant form microcephaly
  308. Choroidal atrophy alopecia--also known as--> Moloney syndrome or Regional choroidal atrophy and alopecia. Symptoms include: Fine hair, absent/decreased lashes, absent/decreased eyebrows, visual loss-mild/suspected, dysplastic/thick/grooved toenails and fingernails. [138]
  309. Choroideremia hypopituitarism
  310. Choroido cerebral calcification syndrome infantile
  311. Christian Demyer Franken syndrome [139]
  312. Christian Johnson Angenieta syndrome [140]
  313. Christianson Fourie syndrome