Wikipedia:WikiProject Missing encyclopedic articles/Missing diseases/9

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  1. Pachyonychia congenita Jackson Lawler type
  2. Paes Whelan Modi syndrome
  3. Paget disease extramammary
  4. Paget disease juvenile type
  5. Pagon Bird Detter syndrome
  6. Pagon Stephan syndrome
  7. Pai Levkoff syndrome
  8. Palant cleft palate syndrome
  9. Palindromic rheumatism
  10. Pallister-Killian syndrome
  11. Palmer Pagon syndrome
  12. Palmitoyl-protein thioesterase deficiency
  13. Palmoplantar porokeratosis of Mantoux
  14. Pancreas agenesis
  15. Pancreatic adenoma
  16. Pancreatic beta cell agenesis with neonatal diabetes mellitus
  17. Pancreatic carcinoma, familial
  18. Pancreatic diseases
  19. Pancreatic lipomatosis duodenal stenosis
  20. Pancreatitis, hereditary
  21. Pancreatoblastoma
  22. PANDAS
  23. Panmyelophthisis aplastic anemia
  24. Panostotic fibrous dysplasia
  25. Papillion-Lefevre syndrome
  26. Papillitis
  27. Papilloma of choroid plexus
  28. Papular mucinosis
  29. Papular urticaria
  30. Paracoccidioidomycosis
  31. Parainfluenza virus type 3 antenatal infection
  32. Paramyotonia congenita of Von Eulenburg
  33. Paraneoplastic cerebellar degeneration
  34. Paraomphalocele
  35. Paraparesis amyotrophy of hands and feet
  36. Paraplegia-brachydactyly-cone shaped epiphysis
  37. Paraplegia-mental retardation-hyperkeratosis
  38. Parastremmatic dwarfism
  39. Parathyroid cancer
  40. Parathyroid neoplasm
  41. PARC syndrome
  42. Parenchymatous cortical degeneration of cerebellum
  43. Paris-Trousseau thrombopenia
  44. Parkes-Weber syndrome
  45. Parkinson dementia Steele type
  46. Parkinsonism early onset mental retardation
  47. Paroxysmal dystonic choreoathetosis
  48. Paroxysmal ventricular fibrillation
  49. Parry-Romberg syndrome
  50. Pars planitis
  51. Parsonage Turner syndrome
  52. Partial agenesis of corpus callosum
  53. Partial atrioventricular canal
  54. Partial deletion of Y
  55. Partial gigantism in context of NF
  56. Partial lissencephaly
  57. Partington Anderson syndrome
  58. Partington Mulley syndrome
  59. Parturiphobia
  60. Parvovirus antenatal infection
  61. Pascuel Castroviejo syndrome
  62. Pashayan syndrome
  63. Pat1
  64. Pat11
  65. Pat111
  66. Pat12
  67. Pat121
  68. Pat13
  69. Pat131
  70. Pat132
  71. Pat14
  72. Pat141
  73. Pat142
  74. Patel Bixler syndrome
  75. Patella aplasia, coxa vara, tarsal synostosis
  76. Patella hypoplasia mental retardation
  77. Patent ductus arteriosus familial
  78. Patterson Lowry syndrome
  79. Patterson Stevenson syndrome
  80. Pauciarticular chronic arthritis
  81. Pavone Fiumara Rizzo syndrome
  82. Pearson's marrow/pancreas syndrome
  83. Peeling skin syndrome ichthyosis
  84. PEHO syndrome
  85. Pelizaeus-Merzbacher brain sclerosis
  86. Pelizaeus-Merzbacher disease, recessive, acute infantile
  87. Pelizaeus-Merzbacher leukodystrophy
  88. Pellagra like syndrome
  89. Pellagrophobia
  90. Pelvic dysplasia arthrogryposis of lower limbs
  91. Pelvic shoulder dysplasia
  92. Pemphigus and fogo selvagem
  93. Pemphigus vulgaris, familial
  94. Pena Shokeir syndrome
  95. Penis agenesia
  96. Penoscrotal transposition
  97. Penta X syndrome
  98. Pentalogy of Cantrell
  99. Pentosuria
  100. Penttinen-Aula syndrome
  101. PEPCK 1 deficiency
  102. PEPCK 2 deficiency
  103. PEPCK deficiency, mitochondrial
  104. Peptidic growth factors deficiency
  105. Pericardial constriction growth failure
  106. Pericardial defect diaphragmatic hernia
  107. Pericardium absent mental retardation short stature
  108. Pericardium congenital anomaly
  109. Perilymphatic fistula
  110. Perimyositis
  111. Periodic disease
  112. Periodic fever, aphthous stomatitis, pharyngitis and adenitis
  113. Peripheral blood vessel disorder
  114. Peripheral nervous disorder
  115. Peripheral neuroectodermal tumor
  116. Peripheral T-cell lymphoma
  117. Peripheral type neurofibromatosis
  118. Perisylvian syndrome
  119. Periventricular laminar heterotopia
  120. Perniola Krajewska Carnevale syndrome
  121. Peroxisomal Bifunctional Enzyme Deficiency
  122. Peroxisomal defects
  123. Persistent Mullerian duct syndrome (PMDS)
  124. Persistent parvovirus infection
  125. Persistent truncus arteriosus
  126. Peters anomaly with cataract
  127. Peters anomaly
  128. Peters congenital glaucoma
  129. Petit Fryns syndrome
  130. Petty Laxova Wiedemann syndrome
  131. Pfeiffer cardiocranial syndrome
  132. Pfeiffer Hirschfelder Rott syndrome
  133. Pfeiffer Kapferer syndrome
  134. Pfeiffer Mayer syndrome
  135. Pfeiffer Palm Teller syndrome
  136. Pfeiffer Rockelein syndrome
  137. Pfeiffer Singer Zschiesche syndrome
  138. Pfeiffer Tietze Welte syndrome
  139. Pfeiffer type acrocephalosyndactyly
  140. PHACE association
  141. Phacomatosis fourth
  142. Phacomatosis pigmentokeratotica
  143. Phacomatosis pigmentovascularis
  144. Phalacrophobia
  145. Pharyngeal plague
  146. Phenobarbital antenatal infection
  147. Phenobarbital embryopathy
  148. Phenol sulfotransferase deficiency
  149. Phenothiazine antenatal infection
  150. Phenylalanine hydroxylase deficiency
  151. Phenylalaninemia
  152. Phenylketonuria type II
  153. Phenylketonuric embryopathy
  154. Pheochromocytoma as part of NF
  155. Philadelphia-negative chronic myeloid leukemia
  156. Phocomelia contractures absent thumb
  157. Phocomelia ectrodactyly deafness sinus arrhythmia
  158. Phocomelia Schinzel type
  159. Phocomelia thrombocytopenia encephalocele
  160. Phosphate diabetes
  161. Phosphoenolpyruvate carboxykinase 1 deficiency
  162. Phosphoenolpyruvate carboxykinase 2 deficiency
  163. Phosphoenolpyruvate carboxykinase deficiency
  164. Phosphoglucomutase deficiency type 1
  165. Phosphoglucomutase deficiency type 2
  166. Phosphoglucomutase deficiency type 3
  167. Phosphoglucomutase deficiency type 4
  168. Phosphoglucomutase deficiency
  169. Phosphoglycerate kinase 1 deficiency
  170. Phosphoglycerate kinase deficiency
  171. Phosphomannoisomerase deficiency
  172. Phosphoribosylpyrophosphate synthetase deficiency
  173. Photoaugliaphobia
  174. Phthiriophobia
  175. Phytanic acid oxidase deficiency
  176. PIBIDS syndrome
  177. Picardi-Lassueur-Little syndrome
  178. Pie Torcido
  179. Piebald trait neurologic defects
  180. Piebaldism
  181. Piepkorn Karp Hickoc syndrome
  182. Pierre Marie cerbellar ataxia
  183. Pierre Robin sequence congenital heart defect talipes
  184. Pierre Robin sequence faciodigital anomaly
  185. Pierre Robin syndrome fetal chondrodysplasia
  186. Pierre Robin syndrome hyperphalangy clinodactyly
  187. Pierre Robin syndrome skeletal dysplasia polydactyly
  188. Pierre Robin's sequence
  189. Pigmentary retinopathy
  190. Pigment-dispersion syndrome
  191. Pigmented villonodular synovitis
  192. Pignata guarino syndrome
  193. Pili canulati
  194. Pili torti developmental delay neurological abnormalities
  195. Pili torti nerve deafness
  196. Pili torti onychodysplasia
  197. Pili torti
  198. Pillay syndrome
  199. Pilo dento ungular dysplasia microcephaly
  200. Pilotto syndrome
  201. Pinheiro Freire Maia Miranda syndrome
  202. Pinsky Di George Harley syndrome
  203. Pipecolic acidemia
  204. Pitt Hopkins syndrome
  205. Pitt-Rogers-Danks syndrome
  206. Pituitary dwarfism 1
  207. Piussan Lenaerts Mathieu syndrome
  208. Placenta disorder
  209. Placenta neoplasm
  210. Plagiocephaly X linked mental retardation
  211. Plasmacytoma anaplastic
  212. Plasmalogenes synthesis deficiency isolated
  213. Plasminogen activitor inhibitor type 1 deficiency, congenital
  214. Plasminogen deficiency, congenital
  215. Platyspondylic lethal chondrodysplasia
  216. Platyspondyly amelogenesis imperfecta
  217. Plexosarcoma
  218. Plum syndrome
  219. Podder-Tolmie syndrome
  220. Poikiloderma congenital with bullae Weary type
  221. Poikiloderma hereditary acrokeratotic Weary type
  222. Poikiloderma of Kindler
  223. Poikiloderma of Rothmund-Thomson
  224. Poikilodermatomyositis mental retardation
  225. Poikilodermia alopecia retrognathism cleft palate
  226. Pointer syndrome
  227. Poliosophobia
  228. Polyarteritis
  229. Polyarthritis, systemic
  230. Polycystic kidney disease, adult type
  231. Polycystic kidney disease, infantile type
  232. Polycystic kidney disease, infantile, type I
  233. Polycystic kidney disease, recessive type
  234. Polycystic kidney disease, type 1
  235. Polycystic kidney disease, type 2
  236. Polycystic kidney disease, type 3
  237. Polycystic ovarian disease, familial
  238. Polycystic ovaries urethral sphincter dysfunction
  239. Polydactyly alopecia seborrheic dermatitis
  240. Polydactyly cleft lip palate psychomotor retardation
  241. Polydactyly myopia syndrome
  242. Polydactyly postaxial dental and vertebral
  243. Polydactyly postaxial with median cleft of upper lip
  244. Polydactyly postaxial
  245. Polydactyly preaxial type 1
  246. Polydactyly syndrome middle ray duplication
  247. Polydactyly visceral anomalies cleft lip palate
  248. Polyglucosan body disease, adult
  249. Polymicrogyria turricephaly hypogenitalism
  250. Polymorphic catecholergic ventricular tachycardia
  251. Polymorphic macular degeneration
  252. Polymorphous low-grade adenocarcinoma
  253. Polyneuritis
  254. Polyneuropathy hand defect
  255. Polyneuropathy mental retardation acromicria prema
  256. Polyomavirus Infections
  257. Polyposis hamartomatous intestinal
  258. Polyposis skin pigmentation alopecia fingernail changes
  259. Polysyndactyly cardiac malformation
  260. Polysyndactyly microcephaly ptosis
  261. Polysyndactyly orofacial anomalies
  262. Polysyndactyly overgrowth syndrome
  263. Polysyndactyly trigonocephaly agenesis of corpus callosum
  264. Polysyndactyly type 4
  265. Polysyndactyly type Haas
  266. Poncet-Spiegler's cylindroma
  267. Pontoneocerebellar Hypoplasia
  268. Popliteal pterygium syndrome lethal type
  269. Porencephaly cerebellar hypoplasia malformations
  270. Porokeratosis of Mibelli
  271. Porokeratosis plantaris palmaris et disseminata
  272. Porokeratosis punctata palmaris et plantaris
  273. Porphyria, Ala-D
  274. Porphyria, congenital erythropoietic
  275. Porphyria, hereditary coproporphyria
  276. Portal hypertension due to infrahepatic block
  277. Portal thrombosis
  278. Portuguese type amyloidosis
  279. Positive rheumatoid factor polyarthritis
  280. Postaxial polydactyly mental retardation
  281. Posterior tibial tendon rupture
  282. Posterior urethral valves
  283. Posterior valve urethra
  284. Post-infectious myocarditis
  285. Post-traumatic epilepsy
  286. Potassium aggravated myotonia
  287. Potter disease type 1
  288. Potter disease, type 3
  289. Potter sequence cleft cardiopathy
  290. Potter syndrome dominant type
  291. Powell Buist Stenzel syndrome
  292. Powell Chandra Saal syndrome
  293. Powell Venencie Gordon syndrome
  294. Prata Liberal Goncalves syndrome
  295. Preaxial deficiency postaxial polydactyly hypospadia
  296. Preaxial polydactyly colobomata mental retardation
  297. Precocious epileptic encephalopathy
  298. Precocious myoclonic encephalopathy
  299. Precocious puberty, gonadotropin-dependent
  300. Precocious puberty, male limited
  301. Preeyasombat Viravithya syndrome
  302. Prekallikrein deficiency, congenital
  303. Premature aging, Okamoto type
  304. Premature atherosclerosis photomyoclonic epilepsy
  305. Premature menopause, familial
  306. Prenatal infections
  307. Prieto Badia Mulas syndrome
  308. Prieur Griscelli syndrome
  309. Primary agammaglobulinemia
  310. Primary aldosteronism
  311. Primary alveolar hypoventilation
  312. Primary amenorrhea
  313. Primary ciliary dyskinesia, 2
  314. Primary craniosynostosis
  315. Primary cutaneous amyloidosis
  316. Primary granulocytic sarcoma
  317. Primary hyperoxaluria
  318. Primary malignant lymphoma
  319. Primary orthostatic tremor
  320. Primary tubular proximal acidosis
  321. Primerose syndrome
  322. Primordial microcephalic dwarfism Crachami type
  323. Procarcinoma
  324. Progeria short stature pigmented nevi
  325. Progeria variant syndrome Ruvalcaba type
  326. Progeroid syndrome De Barsy type
  327. Progeroid syndrome Petty type
  328. Progeroid syndrome, Penttinen type
  329. Prognathism dominant
  330. Progressive acromelanosis
  331. Progressive black carbon hyperpigmentation of infancy
  332. Progressive diaphyseal dysplasia
  333. Progressive hearing loss stapes fixation
  334. Progressive kinking of the hair, acquired
  335. Progressive myositis ossificans
  336. Progressive osseous heteroplasia
  337. Progressive spinal muscular atrophy
  338. Progressive supranuclear palsy atypical
  339. Progressive systemic sclerosis
  340. Prolactinoma, familial
  341. Prolerating trichilemmal cyst
  342. Prolidase deficiency
  343. Prolymphocytic leukemia
  344. Properdin deficiency
  345. Prosencephaly cerebellar dysgenesis
  346. Prostaglandin antenatal infection
  347. Prostatic malacoplakia associated with prostatic abscess
  348. Protein R deficiency
  349. Protein S acquired deficiency
  350. Proteus like syndrome mental retardation eye defect
  351. Prothrombin deficiency
  352. Protoporphyria, erythropoietic
  353. Protoporphyria
  354. Proud Levine Carpenter syndrome
  355. Proximal myotonic dystrophy
  356. Proximal myotonic myopathy
  357. Proximal spinal muscular atrophy
  358. Proximal tubulopathy diabetes mellitus cerebellar ataxia
  359. Prurigo nodularis
  360. Psellismophobia
  361. Pseudoachondroplasia
  362. Pseudoachondroplastic dysplasia 1
  363. Pseudoachondroplastic dysplasia
  364. Pseudoadrenoleukodystrophy
  365. Pseudoaminopterin syndrome
  366. Pseudoarylsulfatase A deficiency
  367. Pseudo-Gaucher disease
  368. Pseudohermaphrodism anorectal anomalies
  369. Pseudohermaphroditism female skeletal anomalies
  370. Pseudohermaphroditism male with gynecomastia
  371. Pseudohermaphroditism mental retardation
  372. Pseudohypoaldosteronism type 1
  373. Pseudohypoaldosteronism type 2
  374. Pseudohypoaldosteronism
  375. Pseudomarfanism
  376. Pseudomonas stutzeri infections
  377. Pseudomongolism
  378. Pseudoobstruction idiopathic intestinal
  379. Pseudopapilledema blepharophimosis hand anomalies
  380. Pseudo-Pelade of Brocq
  381. Pseudopolycythaemia
  382. Pseudoprogeria syndrome
  383. Pseudo-torch syndrome
  384. Pseudo-Turner syndrome
  385. Pseudoxanthoma elasticum, dominant form
  386. Pseudoxanthoma elasticum, recessive form
  387. Pseudo-Zellweger syndrome
  388. Pterigium Colli
  389. Pterygia mental retardation facial dysmorphism
  390. Pterygium colli mental retardation digital anomalies
  391. Pterygium syndrome antecubital
  392. Pterygium syndrome multiple dominant type
  393. Pterygium syndrome X linked
  394. Pterygium syndrome, multiple
  395. Ptosis coloboma mental retardation
  396. Ptosis coloboma trigonocephaly
  397. Ptosis strabismus diastasis
  398. Ptosis strabismus ectopic pupils
  399. Pulmonar arterioveinous aneurysm
  400. Pulmonary agenesis
  401. Pulmonary alveolar proteinosis, congenital
  402. Pulmonary arterio-veinous fistula
  403. Pulmonary artery agenesis
  404. Pulmonary artery coming from the aorta
  405. Pulmonary artery familial dilatation
  406. Pulmonary atresia with ventricular septal defect
  407. Pulmonary blastoma
  408. Pulmonary branches stenosis
  409. Pulmonary cystic lymphangiectasis
  410. Pulmonary Disease, Chronic Obstructive
  411. Pulmonary Hypertension, Secondary
  412. Pulmonary hypoplasia familial primary
  413. Pulmonary supravalvular stenosis
  414. Pulmonary surfactant protein B, deficiency of
  415. Pulmonary valves agenesis
  416. Pulmonary veins stenosis
  417. Pulmonary veno-occlusive disease
  418. Pulmonary venous return anomaly
  419. Pulmonaryatresia intact ventricular septum
  420. Punctate acrokeratoderma freckle like pigmentation
  421. Punctate inner choroidopathy
  422. Pupaphobia
  423. Puretic syndrome
  424. Purine nucleoside phosphorylase deficiency
  425. Purtilo syndrome
  426. Pycnodysostosis
  427. Pyknoachondrogenesis
  428. Pyle disease
  429. Pyridoxine deficit
  430. Pyrimidinemia familial
  431. Pyruvate carboxylase deficiency
  432. Pyruvate decarboxylase deficiency
  433. Pyruvate kinase deficiency, liver type
  434. Pyruvate kinase deficiency, muscle type
  435. Qazi Markouizos syndrome
  436. Quebec platelet disorder
  437. Quinquaud's decalvans folliculitis
  438. Rabson-Mendenhall syndrome
  439. Radial defect Robin sequence
  440. Radial hypoplasia, triphalangeal thumbs and hypospadias
  441. Radial ray agenesis
  442. Radial ray hypoplasia choanal atresia
  443. Radiation induced angiosarcoma of the breast
  444. Radiation induced meningioma
  445. Radiation leukemia
  446. Radiation related neoplasm /cancer
  447. Radiation syndromes
  448. Radiation-Induced Brachial Plexopathy
  449. Radiculomegaly of canine teeth congenital cataract
  450. Radio digito facial dysplasia
  451. Radio renal syndrome
  452. Radioulnar synostosis mental retardation hypotonia
  453. Radioulnar synostosis retinal pigment abnormalities
  454. Radio-ulnar synostosis type 1
  455. Radio-ulnar synostosis type 2
  456. Radius absent anogenital anomalies
  457. Raine syndrome
  458. Rambam Hasharon syndrome
  459. Rambaud Galian syndrome
  460. Ramer Ladda syndrome
  461. Ramon Syndrome
  462. Ramos Arroyo Clark syndrome
  463. Rapadilino syndrome
  464. Rapp-Hodgkin syndrome
  465. Rasmussen Johnsen Thomsen syndrome
  466. Rasmussen subacute encephalitis
  467. Ray Peterson Scott syndrome
  468. Rayner Lampert Rennert syndrome
  469. Reactive attachment disorder of early childhood
  470. Reactive attachment disorder of infancy
  471. Reardon Hall Slaney syndrome
  472. Reardon Wilson Cavanagh syndrome
  473. Rectophobia
  474. Recurrent laryngeal papillomas
  475. Recurrent peripheral facial palsy
  476. Recurrent respiratory papillomatosis
  477. Reductional transverse limb defects
  478. Refractory anemia
  479. Refsum disease, infantile form
  480. Refsum Syndrome
  481. Reginato Shiapachasse syndrome
  482. Reifenstein Syndrome
  483. Reinhardt Pfeiffer syndrome
  484. Renal adysplasia dominant type
  485. Renal agenesis meningomyelocele mullerian defect
  486. Renal agenesis, bilateral
  487. Renal caliceal diverticuli deafness
  488. Renal dysplasia diffuse autosomal recessive
  489. Renal dysplasia diffuse cystic
  490. Renal dysplasia limb defects
  491. Renal dysplasia megalocystis sirenomelia
  492. Renal dysplasia mesomelia radiohumeral fusion
  493. Renal genital middle ear anomalies
  494. Renal glycosuria
  495. Renal hepatic pancreatic dysplasia Dandy Walker cyst
  496. Renal hypertension
  497. Renal rickets
  498. Renal tubular acidosis progressive nerve deafness
  499. Renal tubular acidosis, distal, autosomal dominant
  500. Renal tubular acidosis, distal, autosomal recessive
  501. Renal tubular acidosis, distal, type 3
  502. Renal tubular acidosis, distal, type 4
  503. Renal tubular acidosis, distal
  504. Renal tubular transport disorders inborn
  505. Renier Gabreels Jasper syndrome
  506. Renoanogenital syndrome
  507. Renoprival hypertension
  508. Resistance to LH (luteinizing hormone)
  509. Resistance to thyroid stimulating hormone
  510. Respiratory chain deficiency malformations
  511. Respiratory distress syndrome, Adult
  512. Respiratory distress syndrome, infant
  513. Reticuloendotheliosis
  514. Retina disorder
  515. Retinal dysplasia X linked
  516. Retinal telangiectasia hypogammaglobulinemia
  517. Retinis pigmentosa deafness hypogenitalism
  518. Retinitis pigmentosa mental retardation deafness
  519. Retinitis pigmentosa-deafness
  520. Retinohepatoendocrinologic syndrome
  521. Retinopathy anemia CNS anomalies
  522. Retinopathy aplastic anemia neurological abnormalities
  523. Retinopathy pigmentary mental retardation
  524. Retinopathy, arteriosclerotic
  525. Retinopathy, diabetic
  526. Retinoschisis, juvenile
  527. Retinoschisis, X-linked
  528. Retroperitoneal liposarcoma
  529. Rett like syndrome
  530. Revesz Debuse syndrome
  531. Reynolds Neri Hermann syndrome
  532. Rhabditida Infections
  533. Rhabdoid tumor
  534. Rhabdomyomatous dysplasia cardiopathy genital anomalies
  535. Rhabdomyosarcoma 1
  536. Rhabdomyosarcoma 2
  537. Rhabdomyosarcoma, alveolar
  538. Rhabdomyosarcoma, embryonal
  539. Rheumatoid vasculitis
  540. Rhizomelic dysplasia type Patterson Lowry
  541. Rhizomelic pseudopolyarthritis
  542. Rhizomelic syndrome
  543. Rhumatoid purpura
  544. Rhypophobia
  545. Rhytiphobia
  546. Ribbing disease
  547. Richards-Rundle syndrome
  548. Richieri Costa Da Silva syndrome
  549. Richieri Costa Gorlin syndrome
  550. Richieri Costa Guion Almeida acrofacial dysostosis
  551. Richieri Costa Guion Almeida Cohen syndrome
  552. Richieri Costa Guion Almeida dwarfism
  553. Richieri Costa Guion Almeida Rodini syndrome
  554. Richieri Costa Montagnoli syndrome
  555. Richieri Costa Orquizas syndrome
  556. Richieri Costa Silveira Pereira syndrome
  557. Richieri-Costa Colletto Otto syndrome
  558. Richter syndrome
  559. Rickettsiosis
  560. Rieger syndrome
  561. Right atrium familial dilatation
  562. Right ventricle hypoplasia
  563. Rigid mask like face deafness polydactyly
  564. Rigid spine syndrome
  565. Riley-Day syndrome
  566. Ringed hair disease
  567. Rivera Perez Salas syndrome
  568. Roberts Syndrome
  569. Robin sequence and oligodactyly
  570. Robinow Sorauf syndrome
  571. Robinow syndrome
  572. Robinson Miller Bensimon syndrome
  573. Roch-Leri mesosomatous lipomatosis
  574. Rodini Richieri Costa syndrome
  575. Rokitansky Kuster Hauser syndrome
  576. Rokitansky sequence
  577. Romberg hemi-facial atrophy
  578. Rombo syndrome
  579. Rommen Mueller Sybert syndrome
  580. Rosai-Dorfman disease
  581. Rosenberg Chutorian syndrome
  582. Rosenberg Lohr syndrome
  583. Rothmund-Thomson syndrome
  584. Rotor syndrome
  585. Roussy Levy hereditary areflexic dystasia
  586. Rowley-Rosenberg syndrome
  587. Roy Maroteaux Kremp syndrome
  588. Rozin Hertz Goodman syndrome
  589. Rubella virus antenatal infection
  590. Rubinstein Taybi like syndrome
  591. Rudd Klimek syndrome
  592. Rudiger syndrome
  593. Rupophobia
  594. Rutledge Friedman Harrod syndrome
  595. Ruvalcaba Churesigaew Myhre syndrome
  596. Ruvalcaba syndrome
  597. Ruvalcaba-Myhre syndrome
  598. Ruvalcaba-Myhre-Smith syndrome (BRR)
  599. Ruzicka Goerz Anton syndrome