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Rare Diseases

orcaon13 Apr 18th, 2019 369 Never
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  1. Aarskog Syndrome
  2. Abetalipoproteinemia
  3. Ablepharon-Macrostomia Syndrome
  4. Acanthocheilonemiasis
  5. Acanthosis Nigricans
  6. Aceruloplasminemia
  7. Achalasia
  8. Achard Thiers Syndrome
  9. Achondrogenesis
  10. Achondroplasia
  11. Acid Sphingomyelinase Deficiency
  12. Acidemia Isovaleric
  13. Acidemia, Methylmalonic
  14. Acoustic Neuroma
  15. Acquired Aplastic Anemia
  16. Acquired Hemophilia
  17. Acquired Lipodystrophy
  18. Acquired Neuromyotonia
  19. Acrocallosal Syndrome, Schinzel Type
  20. Acrodermatitis Enteropathica
  21. Acrodysostosis
  22. Acromegaly
  23. Acromesomelic Dysplasia
  24. Acromicric Dysplasia
  25. ACTH Deficiency
  26. Acute Disseminated Encephalomyelitis
  27. Acute Eosinophilic Pneumonia
  28. Acute Intermittent Porphyria
  29. Acute Myeloid Leukemia
  30. Acute Respiratory Distress Syndrome
  31. Adams Oliver Syndrome
  32. Addison’s Disease
  33. Adenoid Cystic Carcinoma
  34. Adenylosuccinate Lyase Deficiency
  35. Adie Syndrome
  36. ADNP Syndrome
  37. Adrenoleukodystrophy
  38. Adult Neuronal Ceroid Lipofuscinosis
  39. Adult Onset Still’s Disease
  40. Adult Polyglucosan Body Disease
  41. AEC Syndrome
  42. African Iron Overload
  43. Agammaglobulinemia
  44. Agenesis of Corpus Callosum
  45. Agranulocytosis, Acquired
  46. Ahumada-Del Castillo Syndrome
  47. Aicardi Syndrome
  48. AIDS Dysmorphic Syndrome
  49. ALAD Porphyria
  50. Alagille Syndrome
  51. Alexander Disease
  52. Alkaptonuria
  53. Alopecia Areata
  54. Alpers Disease
  55. Alpha Thalassemia
  56. Alpha Thalassemia X-linked Intellectual Disability Syndrome
  57. Alpha-1 Antitrypsin Deficiency
  58. Alpha-Mannosidosis
  59. Alport Syndrome
  60. Alström Syndrome
  61. Alternating Hemiplegia of Childhood
  62. Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
  63. Alveolar Soft Part Sarcoma
  64. Alveolitis, Extrinsic Allergic
  65. Ameloblastic Carcinoma
  66. Ameloblastoma
  67. Amelogenesis Imperfecta
  68. Amniotic Band Syndrome
  69. Amyloidosis
  70. Amyotrophic Lateral Sclerosis
  71. Anaplastic Astrocytoma
  72. Andersen Disease (GSD IV)
  73. Andersen-Tawil Syndrome
  74. Androgen Insensitivity Syndrome, Partial
  75. Anemia of Chronic Disease
  76. Anemia, Blackfan Diamond
  77. Anemia, Hemolytic, Acquired Autoimmune
  78. Anemia, Hemolytic, Cold Antibody
  79. Anemia, Hereditary Nonspherocytic Hemolytic
  80. Anemia, Hereditary Spherocytic Hemolytic
  81. Anemia, Megaloblastic
  82. Anemia, Pernicious
  83. Anemias, Sideroblastic
  84. Anencephaly
  85. Angelman Syndrome
  86. Angioimmunoblastic T-Cell Lymphoma
  87. Aniridia
  88. Aniridia Cerebellar Ataxia Mental Deficiency
  89. Anthrax
  90. Antiphospholipid Syndrome
  91. Antisynthetase Syndrome
  92. Antithrombin Deficiency
  93. Antley Bixler Syndrome
  94. Apert Syndrome
  95. Aplasia Cutis Congenita
  96. Apnea, Infantile
  97. Appendiceal Cancer and Tumors
  98. Apraxia
  99. Arachnoid Cysts
  100. Arachnoiditis
  101. Arginase Deficiency
  102. Argininie: Glycine Amidinotransferase Deficiency
  103. Argininosuccinic Aciduria
  104. Arterial Tortuosity Syndrome
  105. Arteriovenous Malformation
  106. Arteritis, Takayasu
  107. Arthritis, Infectious
  108. Arthritis, Juvenile Rheumatoid
  109. Arthritis, Psoriatic
  110. Arthrogryposis Multiplex Congenita
  111. Asherman’s Syndrome
  112. Asherson’s Syndrome
  113. Aspartylglycosaminuria
  114. Aspergillosis
  115. Asphyxiating Thoracic Dystrophy
  116. Astrocytoma
  117. Ataxia Telangiectasia
  118. Ataxia with Vitamin E Deficiency
  119. ATR-16 Syndrome
  120. Atransferrinemia
  121. Atrial Septal Defects
  122. Atrioventricular Septal Defect
  123. Atypical Hemolytic Uremic Syndrome
  124. Autoimmune Blistering Diseases
  125. Autoimmune Hepatitis
  126. Autoimmune Polyendocrine Syndrome Type II
  127. Autoimmune Polyglandular Syndrome Type 1
  128. Autoinflammation with Infantile Enterocolitis
  129. Autosomal Dominant Hereditary Ataxia
  130. Autosomal Dominant Hyper IgE Syndrome
  131. Autosomal Dominant Polycystic Kidney Disease
  132. Autosomal Dominant Porencephaly Type I
  133. Autosomal Dominant Tubulo-Interstitial Kidney Disease
  134. Autosomal Recessive Hyper IgE Syndrome
  135. Autosomal Recessive Polycystic Kidney Disease
  136. Babesiosis
  137. Balantidiasis
  138. Baller Gerold Syndrome
  139. Balo Disease
  140. Banti’s Syndrome
  141. Barakat Syndrome
  142. Bardet-Biedl Syndrome
  143. Barth Syndrome
  144. Bartonellosis
  145. Bartter’s Syndrome
  146. Beckwith-Wiedemann Syndrome
  147. Behçet’s Syndrome
  148. Bejel
  149. Bell’s Palsy
  150. Benign Essential Blepharospasm
  151. Benign Paroxysmal Positional Vertigo
  152. Bernard-Soulier Syndrome
  153. Berylliosis
  154. Best Vitelliform Macular Dystrophy
  155. Beta Thalassemia
  156. Bile Acid Synthesis Disorders
  157. Biliary Atresia
  158. Binder Type Nasomaxillary Dysplasia
  159. Binswanger Disease
  160. Biotinidase deficiency
  161. Birt-Hogg-Dubé Syndrome
  162. Björnstad Syndrome
  163. Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex
  164. Blastomycosis
  165. Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
  166. Bloom Syndrome
  167. Blue Diaper Syndrome
  168. Blue Rubber Bleb Nevus syndrome
  169. Börjeson-Forssman-Lehman Syndrome
  170. Bosma Arhinia Microphthalmia Syndrome
  171. Botulism
  172. Bowen Disease
  173. Bowen Hutterite Syndrome
  174. Bowenoid Papulosis
  175. Branchio Oculo Facial Syndrome
  176. Branchiootorenal Spectrum Disorders
  177. Bronchiolitis Obliterans Organizing Pneumonia
  178. Bronchopulmonary Dysplasia
  179. Brown Séquard Syndrome
  180. Brown Syndrome
  181. Brucellosis
  182. Brugada Syndrome
  183. Budd Chiari Syndrome
  184. Buerger’s Disease
  185. Bullous Pemphigoid
  186. C Syndrome
  187. C3 Glomerulopathy: Dense Deposit Disease and C3 Glomerulonephritis
  188. CADASIL
  189. Campomelic Syndrome
  190. Camurati-Engelmann Disease
  191. Canavan Disease
  192. Candidiasis
  193. CARASIL
  194. Carbamoyl Phosphate Synthetase I Deficiency
  195. Carcinoid Syndrome
  196. CARD9 Deficiency
  197. Cardiofaciocutaneous Syndrome
  198. Carney Complex
  199. Carnitine Palmitoyltransferase 1A Deficiency
  200. Carnosinemia
  201. Caroli Disease
  202. Carpenter Syndrome
  203. Castleman Disease
  204. Cat Eye Syndrome
  205. Catamenial Pneumothorax
  206. Catel Manzke Syndrome
  207. Caudal Regression Syndrome
  208. Cavernous Malformation
  209. CDKL5
  210. Central Core Disease
  211. Central Diabetes Insipidus
  212. Central Pain Syndrome
  213. Centronuclear Myopathy
  214. Cerebellar Agenesis
  215. Cerebellar Degeneration, Subacute
  216. Cerebral Creatine Deficiency Syndromes
  217. Cerebral Palsy
  218. Cerebro Oculo Facio Skeletal Syndrome
  219. Cerebrocostomandibular Syndrome
  220. Cerebrotendinous Xanthomatosis
  221. Cervical Dystonia
  222. Cervical Teratoma
  223. Chanarin-Dorfman Syndrome
  224. Chandler’s Syndrome
  225. Charcot-Marie-Tooth Disease
  226. CHARGE Syndrome
  227. Chediak Higashi Syndrome
  228. Chiari Frommel Syndrome
  229. Chiari Malformations
  230. Chikungunya
  231. Chilaiditi’s Syndrome
  232. Cholangiocarcinoma
  233. Cholecystitis
  234. Cholera
  235. Cholesteryl Ester Storage Disease
  236. Chondrocalcinosis 2
  237. Chordoma
  238. Choroideremia
  239. Choroiditis, Serpiginous
  240. Chromosome 10, Distal Trisomy 10q
  241. Chromosome 10, Monosomy 10p
  242. Chromosome 11, Partial Monosomy 11q
  243. Chromosome 11, Partial Trisomy 11q
  244. Chromosome 13, Partial Monosomy 13q
  245. Chromosome 14 Ring
  246. Chromosome 14, Trisomy Mosaic
  247. Chromosome 15 Ring
  248. Chromosome 15, Distal Trisomy 15q
  249. Chromosome 18 Ring
  250. Chromosome 18, Monosomy 18p
  251. Chromosome 18, Tetrasomy 18p
  252. Chromosome 18q- Syndrome
  253. Chromosome 21 Ring
  254. Chromosome 22 Ring
  255. Chromosome 22q11.2 Deletion Syndrome
  256. Chromosome 3, Monosomy 3p
  257. Chromosome 3, Trisomy 3q2
  258. Chromosome 4, Monosomy 4q
  259. Chromosome 4, Monosomy Distal 4q
  260. Chromosome 4, Partial Trisomy Distal 4q
  261. Chromosome 4, Trisomy 4p
  262. Chromosome 5, Trisomy 5p
  263. Chromosome 6 Ring
  264. Chromosome 6, Partial Trisomy 6q
  265. Chromosome 7, Partial Monosomy 7p
  266. Chromosome 8, Monosomy 8p
  267. Chromosome 9 Ring
  268. Chromosome 9, Partial Monosomy 9p
  269. Chromosome 9, Tetrasomy 9p
  270. Chronic Eosinophilic Pneumonia
  271. Chronic Granulomatous Disease
  272. Chronic Inflammatory Demyelinating Polyneuropathy
  273. Chronic Intestinal Pseudo-Obstruction
  274. Chronic Lymphocytic Leukemia
  275. Chronic Myelogenous Leukemia
  276. Churg Strauss Syndrome
  277. Cicatricial Alopecia
  278. Ciguatera Fish Poisoning
  279. Citrullinemia Type 1
  280. Classic Hereditary Hemochromatosis
  281. Classic Infantile CLN1 Disease
  282. Cleidocranial Dysplasia
  283. Clostridial Myonecrosis
  284. CLOVES Syndrome
  285. Cluster Headache
  286. Coats Disease
  287. Cockayne Syndrome
  288. Coffin Lowry Syndrome
  289. Coffin Siris Syndrome
  290. Cogan Reese Syndrome
  291. Cohen Syndrome
  292. COL4A1/A2-Related Disorders
  293. Collagen Type VI-Related Disorders
  294. Colorado Tick Fever
  295. Common Variable Immune Deficiency
  296. Cone Dystrophy
  297. Congenital Adrenal Hyperplasia
  298. Congenital Afibrinogenemia
  299. Congenital Bilateral Perisylvian Syndrome
  300. Congenital Central Hypoventilation Syndrome
  301. Congenital Contractural Arachnodactyly
  302. Congenital Disorders of Glycosylation
  303. Congenital Erythropoietic Porphyria
  304. Congenital Fiber Type Disproportion
  305. Congenital Fibrosis of the Extraocular Muscles
  306. Congenital Generalized Lipodystrophy
  307. Congenital Hepatic Fibrosis
  308. Congenital Hyperinsulinism
  309. Congenital Lactic Acidosis
  310. Congenital Muscular Dystrophy
  311. Congenital Myasthenic Syndromes
  312. Congenital Plasminogen Deficiency
  313. Congenital Pulmonary Lymphangiectasia
  314. Congenital Sucrase-Isomaltase Deficiency
  315. Congenital Syphilis
  316. Congenital Varicella Syndrome
  317. Conradi Hünermann Syndrome
  318. COPA Syndrome
  319. Cor Triatriatum
  320. Corneal Dystrophies
  321. Cornelia de Lange Syndrome
  322. Corticobasal Degeneration
  323. Costello Syndrome
  324. Craniofrontonasal Dysplasia
  325. Craniometaphyseal Dysplasia
  326. Creatine Transporter Deficiency
  327. Creutzfeldt Jakob Disease
  328. Cri du Chat Syndrome
  329. Crigler Najjar Syndrome
  330. Cronkhite-Canada Syndrome
  331. Crouzon Syndrome
  332. Cryptococcosis
  333. Cushing Syndrome
  334. Cutaneous T-Cell Lymphomas
  335. Cutaneous Vasculitis
  336. Cutis Laxa
  337. Cutis Marmorata Telangiectatica Congenita
  338. Cyclic Neutropenia
  339. Cyclic Vomiting Syndrome
  340. Cystic Fibrosis
  341. Cysticercosis
  342. Cystinosis
  343. Cystinuria
  344. Cytochrome C Oxidase Deficiency
  345. Cytomegalovirus Infection
  346. Dandy Walker Malformation
  347. Danon Disease
  348. De Barsy Syndrome
  349. De Santis Cacchione Syndrome
  350. Degos Disease
  351. Dejerine Sottas Disease
  352. Dengue Fever
  353. Dent Disease
  354. Dentin Dysplasia Type I
  355. Dentin Dysplasia Type II
  356. Dentinogenesis Imperfecta Type III
  357. Denys-Drash Syndrome
  358. Depersonalization Disorder
  359. Dercum’s Disease
  360. Dermatitis Herpetiformis
  361. Dermatomyositis
  362. Desmoid Tumor
  363. Dextrocardia with Situs Inversus
  364. Diastrophic Dysplasia
  365. Diencephalic Syndrome
  366. Diffuse Pulmonary Lymphangiomatosis
  367. Dilatation of the Pulmonary Artery, Idiopathic
  368. Distal Myopathy
  369. Dominant Multiple Epiphyseal Dysplasia
  370. DOOR Syndrome
  371. Dracunculosis
  372. Dravet Syndrome
  373. Duane syndrome
  374. Dubin Johnson Syndrome
  375. Dubowitz Syndrome
  376. Duchenne Muscular Dystrophy
  377. Duodenal Atresia or Stenosis
  378. Dup15q Syndrome
  379. Dupuytren’s Contracture
  380. Dyggve Melchior Clausen syndrome
  381. Dysautonomia, Familial
  382. Dyskeratosis Congenita
  383. Dysplasia Epiphysealis Hemimelica
  384. Dystonia
  385. Eales Disease
  386. Ear, Patella, Short Stature Syndrome
  387. Ectodermal Dysplasias
  388. Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate
  389. Ehlers Danlos Syndromes
  390. Eisenmenger Syndrome
  391. Elephantiasis
  392. Ellis Van Creveld Syndrome
  393. Emery Dreifuss Muscular Dystrophy
  394. Emphysema, Congenital Lobar
  395. Empty Sella Syndrome
  396. Encephalitis, Herpes Simplex
  397. Encephalitis, Japanese
  398. Encephalocele
  399. Endocardial Fibroelastosis
  400. Endocarditis, Infective
  401. Endomyocardial Fibrosis
  402. Enterobiasis
  403. Eosinophilia-Myalgia Syndrome
  404. Eosinophilic Esophagitis
  405. Eosinophilic Fasciitis
  406. Eosinophilic Gastroenteritis
  407. Epidermal Nevus Syndromes
  408. Epidermolysis Bullosa
  409. Epidermolytic Ichthyosis
  410. Epitheliopathy, Acute Posterior Multifocal Placoid Pigment
  411. Erdheim Chester Disease
  412. Erysipelas
  413. Erythema Multiforme
  414. Erythrokeratodermia with Ataxia
  415. Erythromelalgia
  416. Erythropoietic Protoporphyria and X-Linked Protoporphyria
  417. Esophageal Atresia and/or Tracheoesophageal Fistula
  418. Essential Iris Atrophy
  419. Essential Thrombocythemia
  420. Essential Tremor
  421. Evans Syndrome
  422. Ewing Sarcoma
  423. Fabry Disease
  424. Facioscapulohumeral Muscular Dystrophy
  425. Factor VII Deficiency
  426. Factor X Deficiency
  427. Factor XI Deficiency
  428. Factor XII Deficiency
  429. Factor XIII Deficiency
  430. Familial Adenomatous Polyposis
  431. Familial Cold Autoinflammatory Syndrome
  432. Familial Encephalopathy with Neuroserpin Inclusion Bodies
  433. Familial Eosinophilic Cellulitis
  434. Familial Hypercholesterolemia
  435. Familial Hypophosphatemia
  436. Familial Isolated Hypoparathyroidism
  437. Familial Lipoprotein Lipase Deficiency
  438. Familial Mediterranean Fever
  439. Familial Partial Lipodystrophy
  440. Familial Platelet Disorder with Associated Myeloid Malignancy
  441. Fanconi Anemia
  442. Farber’s Disease
  443. Fascioliasis
  444. Fatal Familial Insomnia
  445. Felty Syndrome
  446. Femoral Facial Syndrome
  447. Ferroportin Disease
  448. Fetal Alcohol Syndrome
  449. Fetal Hydantoin Syndrome
  450. Fetal Retinoid Syndrome
  451. Fetal Valproate Syndrome
  452. FG Syndrome Type 1
  453. Fibrodysplasia Ossificans Progressiva
  454. Fibrolamellar Carcinoma
  455. Fibromuscular Dysplasia
  456. Fibrosing Mediastinitis
  457. Fibrous Dysplasia
  458. Filariasis
  459. Filippi Syndrome
  460. Fitz Hugh Curtis Syndrome
  461. Floating Harbor Syndrome
  462. Focal Dermal Hypoplasia
  463. Focal Segmental Glomerulosclerosis
  464. Food Protein-Induced Enterocolitis Syndrome
  465. Formaldehyde Poisoning
  466. Fountain Syndrome
  467. Fournier Gangrene
  468. Fox Fordyce Disease
  469. Fragile X Syndrome
  470. Fraser Syndrome
  471. Freeman Sheldon Syndrome
  472. Frey Syndrome
  473. Friedreich’s Ataxia
  474. Froelich Syndrome
  475. Frontofacionasal Dysplasia
  476. Frontonasal Dysplasia
  477. Frontotemporal Degeneration
  478. Fructose Intolerance, Hereditary
  479. Fryns Syndrome
  480. Fucosidosis
  481. Fukuyama Type Congenital Muscular Dystrophy
  482. Functional Neurological Disorder
  483. Galactosemia
  484. Galloway-Mowat Syndrome
  485. Gastritis, Chronic, Erosive
  486. Gastritis, Giant Hypertrophic
  487. Gastrointestinal Stromal Tumors
  488. Gastroparesis
  489. Gastroschisis
  490. Gaucher Disease
  491. General Myoclonus
  492. Geographic Tongue
  493. Gerstmann Syndrome
  494. Gerstmann-Sträussler-Scheinker Disease
  495. Gianotti Crosti Syndrome
  496. Giant Axonal Neuropathy
  497. Giant Cell Arteritis
  498. Giant Cell Myocarditis
  499. Giant Congenital Melanocytic Nevus
  500. Gilbert Syndrome
  501. Gitelman Syndrome
  502. Glanzmann Thrombasthenia
  503. Glioblastoma
  504. Glucose Transporter Type 1 Deficiency Syndrome
  505. Glucose-6-Phosphate Dehydrogenase Deficiency
  506. Glucose-Galactose Malabsorption
  507. Glutaricaciduria I
  508. Glutaricaciduria II
  509. Glutathione Synthetase Deficiency
  510. Glycogen Storage Disease Type I
  511. Glycogen Storage Disease Type III
  512. Glycogen Storage Disease Type IX
  513. Glycogen Storage Disease Type V
  514. Glycogen Storage Disease Type VII
  515. Goblet Cell Carcinoid
  516. Goodpasture Syndrome
  517. Gordon Syndrome
  518. Gorham-Stout Disease
  519. Gorlin-Chaudhry-Moss Syndrome
  520. Gottron Syndrome
  521. Graft versus Host Disease
  522. Granuloma Annulare
  523. Granulomatosis with Polyangiitis
  524. Graves’ Disease
  525. Greig Cephalopolysyndactyly Syndrome
  526. Grover’s Disease
  527. Growth Hormone Deficiency
  528. Growth Hormone Insensitivity
  529. Guanidinoacetate Methyltransferase Deficiency
  530. Guillain-Barré Syndrome
  531. Hailey-Hailey Disease
  532. Haim-Munk Syndrome
  533. Hairy Cell Leukemia
  534. Hajdu Cheney Syndrome
  535. Hallermann Streiff Syndrome
  536. Hanhart Syndrome
  537. Hantavirus Pulmonary Syndrome
  538. Hartnup Disease
  539. Hashimoto Encephalopathy
  540. Heart Block, Congenital
  541. Heavy Metal Poisoning
  542. Hemimegalencephaly
  543. Hemophagocytic Lymphohistiocytosis
  544. Hemophilia A
  545. Hemophilia B
  546. Henoch-Schönlein Purpura
  547. Hepatic Encephalopathy
  548. Hepatocellular Carcinoma
  549. Hepatoerythropoietic Porphyria
  550. Hepatopulmonary Syndrome
  551. Hepatorenal Syndrome
  552. Hereditary Angioedema
  553. Hereditary Breast and Ovarian Cancer Syndrome
  554. Hereditary Coproporphyria
  555. Hereditary Hemorrhagic Telangiectasia
  556. Hereditary Hyperphosphatasia
  557. Hereditary Leiomyomatosis and Renal Cell Carcinoma
  558. Hereditary Lymphedema
  559. Hereditary Multiple Osteochondromas
  560. Hereditary Neuralgic Amyotrophy
  561. Hereditary Orotic Aciduria
  562. Hereditary Sensory and Autonomic Neuropathy Type 1E
  563. Hereditary Sensory and Autonomic Neuropathy Type II
  564. Hereditary Sensory and Autonomic Neuropathy Type IV
  565. Hereditary Sensory Neuropathy Type I
  566. Hereditary Spastic Paraplegia
  567. Hermansky Pudlak Syndrome
  568. Herpes, Neonatal
  569. Hers Disease
  570. Hiccups, Chronic
  571. Hidradenitis Suppurativa
  572. Hirschsprung Disease
  573. Histidinemia
  574. Hodgkin’s Disease
  575. Holoprosencephaly
  576. Holt Oram Syndrome
  577. Homocystinuria due to Cystathionine Beta-Synthase Deficiency
  578. Horner’s Syndrome
  579. HTLV Type I and Type II
  580. Human Granulocytic Ehrlichiosis (HGE)
  581. Human HOXA1 Syndromes
  582. Human Monocytic Ehrlichiosis (HME)
  583. Huntington’s Disease
  584. Hutchinson-Gilford Progeria
  585. Hydranencephaly
  586. Hydrocephalus
  587. Hyper IgM Syndromes
  588. Hyperekplexia
  589. Hyperemesis Gravidarum
  590. Hyperferritinemia Cataract Syndrome
  591. Hyperhidrosis, Primary
  592. Hyperlipoproteinemia Type III
  593. Hyperostosis Frontalis Interna
  594. Hyperprolinemia Type I
  595. Hyperprolinemia Type II
  596. Hypochondroplasia
  597. Hypohidrotic Ectodermal Dysplasia
  598. Hypokalemia
  599. Hypomelanosis of Ito
  600. Hypoparathyroidism
  601. Hypophosphatasia
  602. Hypoplastic Left Heart Syndrome
  603. Hypothalamic Hamartoma
  604. I Cell Disease
  605. Ichthyosis
  606. Ichthyosis Hystrix, Curth Macklin Type
  607. Ichthyosis Vulgaris
  608. Ichthyosis, CHILD Syndrome
  609. Ichthyosis, Erythrokeratodermia Variabilis
  610. Ichthyosis, Erythrokeratolysis Hiemalis
  611. Ichthyosis, Harlequin Type
  612. Ichthyosis, Keratosis Follicularis Spinulosa Decalvans
  613. Ichthyosis, Lamellar
  614. Ichthyosis, Netherton Syndrome
  615. Ichthyosis, X Linked
  616. Idiopathic Intracranial Hypertension
  617. Idiopathic Neonatal Hepatitis
  618. Idiopathic Pulmonary Fibrosis
  619. Idiopathic Subglottic Stenosis
  620. IgA Nephropathy
  621. Immune Thrombocytopenia
  622. Imperforate Anus
  623. Incontinentia Pigmenti
  624. Infantile Myofibromatosis
  625. IRF6-Related Disorders
  626. Ivemark Syndrome
  627. Jackson-Weiss Syndrome
  628. Jansen Type Metaphyseal Chondrodysplasia
  629. Jejunal Atresia
  630. Jervell and Lange-Nielsen Syndrome
  631. Johanson-Blizzard Syndrome
  632. Joubert Syndrome
  633. Juberg-Marsidi Syndrome
  634. Jumping Frenchmen of Maine
  635. Juvenile CLN3 Disease
  636. Juvenile Hemochromatosis
  637. Juvenile Myelomonocytic Leukemia
  638. Juvenile Pilocytic Astrocytoma
  639. Kabuki Syndrome
  640. Kallmann Syndrome
  641. Kasabach-Merritt phenomenon
  642. KAT6A Syndrome
  643. Kawasaki Disease
  644. KBG Syndrome
  645. KCNK9 Imprinting Syndrome
  646. KCNQ2 Encephalopathy
  647. Kearns Sayre Syndrome
  648. Kennedy Disease
  649. Kenny-Caffey Syndrome
  650. Keratitis Ichthyosis Deafness Syndrome
  651. Keratoconus
  652. Keratomalacia
  653. Keratosis Follicularis
  654. Keratosis, Seborrheic
  655. Kernicterus
  656. Kienböck Disease
  657. KIF1A-Related Disorder
  658. Kikuchi’s Disease
  659. Kleine-Levin Syndrome
  660. Klinefelter Syndrome
  661. Klippel-Feil Syndrome
  662. Klippel-Trenaunay Syndrome
  663. Klüver-Bucy Syndrome
  664. Kniest Dysplasia
  665. Kohler Disease
  666. Kufor Rakeb Syndrome
  667. Kugelberg Welander Syndrome
  668. L1 Syndrome
  669. Laband Syndrome
  670. LADD syndrome
  671. Lambert-Eaton Myasthenic Syndrome
  672. Landau Kleffner Syndrome
  673. Langerhans Cell Histiocytosis
  674. Larsen Syndrome
  675. Laryngeal Dystonia
  676. Laurence-Moon Syndrome
  677. Leber Congenital Amaurosis
  678. Leber Hereditary Optic Neuropathy
  679. Legg Calvé Perthes Disease
  680. Legionnaires’ Disease
  681. Leigh Syndrome
  682. Leiomyosarcoma
  683. Leiomyosarcoma, Inferior Vena Cava
  684. Leishmaniasis
  685. Lennox-Gastaut Syndrome
  686. Lenz Microphthalmia Syndrome
  687. Leprechaunism
  688. Leprosy
  689. Leptospirosis
  690. Leri Pleonosteosis
  691. Leri-Weill Dyschondrosteosis
  692. Lesch Nyhan Syndrome
  693. Leukocyte Adhesion Deficiency Syndromes
  694. Leukodystrophy
  695. Leukodystrophy, Krabbe’s
  696. Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
  697. Levy-Yeboa Syndrome
  698. Li-Fraumeni Syndrome
  699. Lichen Planus
  700. Lichen Sclerosus
  701. Limb-Girdle Muscular Dystrophies
  702. Liposarcoma
  703. Lissencephaly
  704. Listeriosis
  705. Locked In Syndrome
  706. Long QT Syndrome
  707. Low Gamma-GT Familial Intrahepatic Cholestasis
  708. Lowe syndrome
  709. Lymphangioleiomyomatosis
  710. Lymphatic Malformations
  711. Lymphedema-Distichiasis Syndrome
  712. Lymphocytic Infiltrate of Jessner
  713. Lymphomatoid Granulomatosis
  714. Lysosomal Free Sialic Acid Storage Disorders
  715. Lysosomal Storage Disorders
  716. Machado-Joseph Disease
  717. Macroglossia
  718. Madelung’s Disease
  719. Maffucci Syndrome
  720. Mal de Debarquement
  721. Malaria
  722. Malignant Hyperthermia
  723. Mallory Weiss Syndrome
  724. Mandibuloacral Dysplasia
  725. Mantle Cell Lymphoma
  726. Maple Syrup Urine Disease
  727. Marcus Gunn Phenomenon
  728. Marden Walker Syndrome
  729. Marfan Syndrome
  730. Marinesco-Sjögren Syndrome
  731. Maroteaux Lamy Syndrome
  732. Marshall Smith Syndrome
  733. Marshall Syndrome
  734. Mastocytosis
  735. Maternally Inherited Leigh Syndrome and NARP Syndrome
  736. Maxillofacial Dysostosis
  737. May Hegglin Anomaly
  738. Mayer-Rokitansky-Küster-Hauser Syndrome
  739. McCune Albright Syndrome
  740. McKusick Type Metaphyseal Chondrodysplasia
  741. MCT8-Specific Thyroid Hormone Cell Transporter Deficiency
  742. MDR3 Deficiency
  743. Measles
  744. Meckel Syndrome
  745. MECP2 Duplication Syndrome
  746. Median Arcuate Ligament Syndrome
  747. Medium Chain Acyl CoA Dehydrogenase Deficiency
  748. Medullary Sponge Kidney
  749. Medulloblastoma
  750. Megalencephaly-Capillary Malformation
  751. Megalocornea Intellectual Disability Syndrome
  752. Meige Syndrome
  753. Melanoma, Malignant
  754. MELAS Syndrome
  755. Meleda Disease
  756. Melkersson Rosenthal Syndrome
  757. Melnick Needles Syndrome
  758. Melorheostosis
  759. Menetrier Disease
  760. Ménière’s Disease
  761. Meningitis
  762. Meningitis, Bacterial
  763. Meningitis, Tuberculous
  764. Meningococcal Meningitis
  765. Meningococcemia
  766. Menkes Disease
  767. Merkel Cell Carcinoma
  768. MERRF Syndrome
  769. Mesenchymal Chondrosarcoma
  770. Mesenteric Panniculitis
  771. Mesothelioma
  772. Metachromatic Leukodystrophy
  773. Metaphyseal Chondrodysplasia, Schmid Type
  774. Metatropic Dysplasia I
  775. Mevalonate Kinase Deficiency
  776. Microvillus Inclusion Disease
  777. Mikulicz Syndrome
  778. Miller Syndrome
  779. Mitochondrial Neurogastrointestinal Encephalopathy
  780. Mitral Valve Prolapse Syndrome
  781. Mixed Connective Tissue Disease (MCTD)
  782. Mixed Cryoglobulinemia
  783. Moebius Syndrome
  784. Monilethrix
  785. Mosaic Trisomy 22
  786. Mosaic Trisomy 9
  787. Mowat-Wilson Syndrome
  788. Moyamoya Disease
  789. Mucha Habermann Disease
  790. Muckle-Wells Syndrome
  791. Mucolipidosis IV
  792. Mucopolysaccharidoses
  793. Mucopolysaccharidosis IV
  794. Mucopolysaccharidosis Type I
  795. Mucopolysaccharidosis Type II
  796. Mucopolysaccharidosis Type III
  797. Mucopolysaccharidosis Type VII
  798. Mucormycosis
  799. Mucous Membrane Pemphigoid
  800. Mulibrey Nanism
  801. Multifocal Motor Neuropathy
  802. Multiple Endocrine Neoplasia Type 1
  803. Multiple Endocrine Neoplasia Type 2
  804. Multiple Myeloma
  805. Multiple Sclerosis
  806. Multiple Sulfatase Deficiency
  807. Multiple System Atrophy
  808. Mulvihill Smith Syndrome
  809. Mumps
  810. Muscular Dystrophy, Becker
  811. Mutism, Selective
  812. Myasthenia Gravis
  813. Mycosis Fungoides
  814. Myelodysplastic Syndromes
  815. Myhre Syndrome
  816. Myocarditis
  817. Myopathy, Congenital, Batten Turner Type
  818. Myopathy, Myofibrillar
  819. Myopathy, Scapuloperoneal
  820. Myotonia Congenita
  821. Myotonic Dystrophy
  822. N-Acetylglutamate Synthetase Deficiency
  823. Nager Syndrome
  824. Nail Patella Syndrome
  825. Nance-Horan Syndrome
  826. Narcolepsy
  827. Necrotizing Enterocolitis
  828. Necrotizing Fasciitis
  829. Nelson Syndrome
  830. Nemaline Myopathy
  831. Neonatal Hemochromatosis
  832. Neonatal Lupus
  833. Neonatal-Onset Multisystem Inflammatory Disease
  834. Nephrogenic Diabetes Insipidus
  835. Nephrogenic Systemic Fibrosis
  836. Neu Laxova Syndrome
  837. Neuroacanthocytosis
  838. Neurofibromatosis 1
  839. Neurofibromatosis 2
  840. Neuroleptic Malignant Syndrome
  841. Neuromyelitis Optica Spectrum Disorder
  842. Neuropathy, Congenital Hypomyelination
  843. Neurotrophic Keratitis
  844. Nevoid Basal Cell Carcinoma Syndrome
  845. Nevus Sebaceus Syndrome
  846. New-Onset Refractory Status Epilepticus (NORSE) and Febrile Infection-Related Epilepsy Syndrome (FIRES)
  847. NGLY1 Deficiency
  848. Niemann Pick Disease Type C
  849. Nocardiosis
  850. Non-24-Hour Sleep-Wake Disorder
  851. Nonketotic Hyperglycinemia
  852. Nontuberculous Mycobacterial Lung Disease
  853. Noonan Syndrome
  854. Noonan Syndrome with Multiple Lentigines
  855. Norrie Disease
  856. Ocular Albinism
  857. Ocular Melanoma
  858. Ocular Motor Apraxia, Cogan Type
  859. Oculo-Auriculo-Vertebral Spectrum
  860. Oculo-Dento-Digital Dysplasia
  861. Oculocerebral Syndrome with Hypopigmentation
  862. Oculocerebrocutaneous Syndrome
  863. Oculocutaneous Albinism
  864. Oculopharyngeal Muscular Dystrophy
  865. Ogilvie syndrome
  866. Olivopontocerebellar Atrophy
  867. Ollier Disease
  868. Opsoclonus-Myoclonus Syndrome
  869. Optic Nerve Hypoplasia
  870. Oral-Facial-Digital Syndrome
  871. Ornithine Transcarbamylase Deficiency
  872. Orocraniodigital Syndrome
  873. Orthostatic Hypotension
  874. OSMED, Heterozygous
  875. OSMED, Homozygous
  876. Osteogenesis Imperfecta
  877. Osteomyelitis
  878. Osteonecrosis
  879. Osteopetrosis
  880. Osteosarcoma
  881. Otopalatodigital Syndrome Type I and II
  882. Ovarian Cancer
  883. Ovotesticular Disorder of Sex Development
  884. Pachydermoperiostosis
  885. Pachyonychia Congenita
  886. Paget’s Disease
  887. Paget’s Disease of the Breast
  888. Pallister Hall Syndrome
  889. Pallister Killian Mosaic Syndrome
  890. Pallister W Syndrome
  891. Pancreatic Neuroendocrine Neoplasms (pNENs)
  892. Panniculitis, Idiopathic Nodular
  893. Pantothenate Kinase-Associated Neurodegeneration
  894. Papillitis
  895. Papillon Lefèvre Syndrome
  896. Paracoccidioidomycosis
  897. Paramyotonia Congenita
  898. Paraneoplastic Neurologic Syndromes
  899. Paroxysmal Cold Hemoglobinuria
  900. Paroxysmal Nocturnal Hemoglobinuria
  901. Parry Romberg Syndrome
  902. Pars Planitis
  903. Parsonage Turner Syndrome
  904. Pediatric Cardiomyopathy
  905. Pediatric Crohn’s Disease
  906. Peeling Skin Syndrome
  907. Pelizaeus Merzbacher disease
  908. Pemphigus
  909. Penta X Syndrome
  910. Pentalogy of Cantrell
  911. PEPCK Deficiency
  912. Perniosis
  913. Pertussis
  914. Peutz Jeghers Syndrome
  915. Pfeiffer Syndrome
  916. PHACE Syndrome
  917. Phelan-McDermid Syndrome
  918. Phenylketonuria
  919. Pheochromocytoma
  920. Phosphoglycerate Kinase Deficiency
  921. Pierre Robin Sequence
  922. Pinta
  923. Pitt-Hopkins Syndrome
  924. Pityriasis Rosea
  925. Pityriasis Rubra Pilaris
  926. PLA2G6-Associated Neurodegeneration
  927. Plague
  928. Pleuropulmonary Blastoma
  929. PMM2-CDG
  930. Pneumocystis Pneumonia
  931. POEMS Syndrome
  932. Poland Syndrome
  933. Polyarteritis Nodosa
  934. Polycystic Liver Disease
  935. Polycythemia Vera
  936. Polymorphous Low-Grade Adenocarcinoma
  937. Polymyalgia Rheumatica
  938. Polymyositis
  939. Pompe Disease
  940. Pontocerebellar Hypoplasia
  941. Porphyria
  942. Porphyria Cutanea Tarda
  943. Post Polio Syndrome
  944. Post-Transplant Lymphoproliferative Disease
  945. Posterior Uveitis
  946. Potter Syndrome
  947. Prader-Willi Syndrome
  948. Precocious Puberty
  949. Primary Biliary Cholangitis
  950. Primary Ciliary Dyskinesia
  951. Primary Craniosynostosis
  952. Primary Distal Renal Tubular Acidosis
  953. Primary Familial Brain Calcification
  954. Primary Gastric Lymphoma
  955. Primary Hyperoxaluria
  956. Primary Hyperparathyroidism
  957. Primary Intestinal Lymphangiectasia
  958. Primary Lateral Sclerosis
  959. Primary Myelofibrosis
  960. Primary Orthostatic Tremor
  961. Primary Sclerosing Cholangitis
  962. Primary Visual Agnosia
  963. Proctitis
  964. Progressive Multifocal Leukoencephalopathy
  965. Progressive Myoclonus Epilepsy
  966. Progressive Osseous Heteroplasia
  967. Progressive Supranuclear Palsy
  968. Progressive Symmetric Erythrokeratodermia
  969. Prolactinoma
  970. Propionic Acidemia
  971. Protein C Deficiency
  972. Protein S Deficiency
  973. Proteus Syndrome
  974. Prune Belly Syndrome
  975. Pseudo Hurler Polydystrophy
  976. Pseudoachondroplasia
  977. Pseudocholinesterase Deficiency
  978. Pseudohypoparathyroidism
  979. Pseudomyxoma Peritonei
  980. Pseudoxanthoma Elasticum
  981. Psittacosis
  982. PTEN Hamartoma Tumor Syndrome
  983. Pterygium Syndrome, Multiple
  984. Pulmonary Alveolar Proteinosis
  985. Pulmonary Arterial Hypertension
  986. Pure Autonomic Failure
  987. Pure Red Cell Aplasia, Acquired
  988. Pycnodysostosis
  989. Pyoderma Gangrenosum
  990. Pyridoxine-Dependent Epilepsy
  991. Pyruvate Carboxylase Deficiency
  992. Pyruvate Dehydrogenase Complex Deficiency
  993. Pyruvate Kinase Deficiency
  994. Q fever
  995. Rabies
  996. Rabson-Mendenhall Syndrome
  997. Radiation Sickness
  998. Ramsay Hunt Syndrome
  999. Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation
  1000. Rasmussen Encephalitis
  1001. Reactive Arthritis
  1002. Recessive Multiple Epiphyseal Dysplasia
  1003. Recurrent Respiratory Papillomatosis
  1004. Reflex Sympathetic Dystrophy Syndrome
  1005. Refractory Celiac Disease
  1006. Refsum Disease
  1007. Relapsing Polychondritis
  1008. Renal Agenesis, Bilateral
  1009. Renal Cell Carcinoma
  1010. Renal Glycosuria
  1011. Respiratory Distress Syndrome, Infant
  1012. Restless Legs Syndrome
  1013. Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations
  1014. Retinitis Pigmentosa
  1015. Retinoblastoma
  1016. Retinopathy of Prematurity
  1017. Retinoschisis
  1018. Retroperitoneal Fibrosis
  1019. Rett Syndrome
  1020. Reye Syndrome
  1021. Rheumatic Fever
  1022. Riboflavin Transporter Deficiency
  1023. Rickets, Vitamin D Deficiency
  1024. Rieger Syndrome
  1025. Ring Chromosome 4
  1026. Roberts Syndrome
  1027. Robinow Syndrome
  1028. Rocky Mountain Spotted Fever
  1029. Rosai-Dorfman Disease
  1030. Rosenberg Chutorian Syndrome
  1031. Rothmund-Thomson Syndrome
  1032. Roussy Lévy Syndrome
  1033. Rubella
  1034. Rubella, Congenital
  1035. Rubinstein Taybi Syndrome
  1036. Russell Silver Syndrome
  1037. Ruvalcaba Syndrome
  1038. RYR-1-Related Diseases
  1039. Sacrococcygeal Teratoma
  1040. Saethre Chotzen Syndrome
  1041. Sakati Syndrome
  1042. Sandhoff Disease
  1043. Schimke Immuno-Osseous Dysplasia
  1044. Schindler disease
  1045. Schinzel Giedion Syndrome
  1046. Schinzel Syndrome
  1047. Schnitzler Syndrome
  1048. Schwartz Jampel Syndrome
  1049. Scleroderma
  1050. Scott Craniodigital Syndrome
  1051. Seckel Syndrome
  1052. Segawa Syndrome
  1053. Senior Løken Syndrome
  1054. Sennetsu Fever
  1055. Sepiapterin Reductase Deficiency
  1056. SETBP1 Disorder
  1057. Setleis Syndrome
  1058. Severe Chronic Neutropenia
  1059. Severe Combined Immunodeficiency
  1060. Sheehan Syndrome
  1061. Short Bowel Syndrome
  1062. Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)
  1063. SHORT Syndrome
  1064. Shprintzen Goldberg Syndrome
  1065. Shwachman Diamond Syndrome
  1066. Sialadenitis
  1067. Sialidosis
  1068. Sickle Cell Disease
  1069. Simian B Virus Infection
  1070. Simple Pulmonary Eosinophilia
  1071. Simpson Dysmorphia Syndrome
  1072. Singleton Merten syndrome
  1073. Sinonasal Undifferentiated Carcinoma
  1074. Sirenomelia
  1075. Sitosterolemia
  1076. Sjögren-Larsson Syndrome
  1077. SLC13A5 Epileptic Encephalopathy
  1078. SLC6A1 Epileptic Encephalopathy
  1079. Small Cell Lung Cancer
  1080. Smallpox
  1081. Smith Lemli Opitz Syndrome
  1082. Smith Magenis Syndrome
  1083. Sneddon Syndrome
  1084. Snyder-Robinson Syndrome
  1085. Soft Tissue Sarcoma
  1086. Sotos Syndrome
  1087. Spina Bifida
  1088. Spinal Muscular Atrophy
  1089. Spinocerebellar Ataxia with Axonal Neuropathy
  1090. Split Hand/Split Foot Malformation
  1091. Spondylocostal Dysplasia
  1092. Spondyloepiphyseal Dysplasia Tarda
  1093. Spondyloepiphyseal Dysplasia, Congenital
  1094. Spondylothoracic Dysplasia
  1095. Spontaneous Intracranial Hypotension
  1096. Sporadic Inclusion Body Myositis
  1097. Sporadic Porencephaly
  1098. Sprengel Deformity
  1099. Staphylococcal Scalded Skin Syndrome
  1100. Status Epilepticus
  1101. STEC Hemolytic Uremic Syndrome
  1102. Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis
  1103. Stickler Syndrome
  1104. Stiff Person Syndrome
  1105. Stomach Cancer
  1106. Sturge Weber Syndrome
  1107. Stuve-Wiedemann Syndrome
  1108. Subacute Sclerosing Panencephalitis
  1109. Succinic Semialdehyde Dehydrogenase Deficiency
  1110. Sudden Infant Death Syndrome
  1111. Sudden Unexplained Death in Childhood
  1112. Superior Mesenteric Artery Syndrome
  1113. Superior Semicircular Canal Dehiscence
  1114. Susac Syndrome
  1115. Sutton Disease II
  1116. Sweet Syndrome
  1117. Swyer syndrome
  1118. Sydenham Chorea
  1119. SYNGAP1-related NSID
  1120. Syphilis, Acquired
  1121. Syringobulbia
  1122. Syringomyelia
  1123. Systemic Capillary Leak Syndrome
  1124. Systemic Primary Carnitine Deficiency
  1125. Tangier Disease
  1126. TANGO2-Related Metabolic Encephalopathy and Arrhythmias
  1127. Tardive Dyskinesia
  1128. Tarlov Cysts
  1129. Tarsal Tunnel Syndrome
  1130. Tay Sachs Disease
  1131. Tenosynovial Giant Cell Tumor
  1132. Testicular Cancer
  1133. Tethered Cord Syndrome
  1134. Tetrahydrobiopterin Deficiency
  1135. Tetralogy of Fallot
  1136. Thoracic Outlet Syndrome
  1137. Three M Syndrome
  1138. Thrombocytopenia Absent Radius Syndrome
  1139. Thrombotic Thrombocytopenic Purpura
  1140. Thyroid Cancer
  1141. Tietze Syndrome
  1142. Timothy Syndrome
  1143. Tinnitus
  1144. Tolosa Hunt Syndrome
  1145. Tongue Cancer
  1146. Tongue, Hairy
  1147. Tooth Agenesis
  1148. Tooth and Nail Syndrome
  1149. TORCH Syndrome
  1150. Tourette Syndrome
  1151. Townes Brocks Syndrome
  1152. Toxic Shock Syndrome
  1153. Transverse Myelitis
  1154. Treacher Collins Syndrome
  1155. Tricho Dento Osseous Syndrome
  1156. Trichorhinophalangeal Syndrome Type I
  1157. Trichorhinophalangeal Syndrome Type II
  1158. Trichorhinophalangeal Syndrome Type III
  1159. Trichothiodystrophy
  1160. Trichotillomania
  1161. Trigeminal Neuralgia
  1162. Trimethylaminuria
  1163. Triosephosphate Isomerase Deficiency
  1164. Triploidy
  1165. Trismus Pseudocamptodactyly Syndrome
  1166. Trisomy 13 Syndrome
  1167. Trisomy 18 Syndrome
  1168. Trisomy 9p (Multiple Variants)
  1169. Trisomy X
  1170. Tropical Sprue
  1171. Truncus Arteriosus
  1172. Tuberculosis
  1173. Tuberous Sclerosis
  1174. Tularemia
  1175. Tumor Necrosis Factor Receptor-Associated Periodic Syndrome
  1176. Turcot Syndrome
  1177. Turner Syndrome
  1178. Twin-Twin Transfusion Syndrome
  1179. Typhoid
  1180. Tyrosine Hydroxylase Deficiency
  1181. Tyrosinemia Type 1
  1182. Ulcerative Colitis
  1183. Urachal Cancer
  1184. Urofacial Syndrome
  1185. Urticaria, Cold
  1186. Urticaria, Papular
  1187. Urticaria, Physical
  1188. Usher Syndrome
  1189. USP7-Related Diseases
  1190. Uterine Leiomyosarcoma
  1191. VACTERL Association
  1192. VACTERL with Hydrocephalus
  1193. Valinemia
  1194. Variegate Porphyria
  1195. Vascular Malformations of the Brain
  1196. Vasculitis
  1197. Ventricular Septal Defects
  1198. Vernal Keratonconjunctivitis
  1199. Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)
  1200. Visual Snow Syndrome
  1201. Vogt-Koyanagi-Harada Disease
  1202. Von Hippel-Lindau Disease
  1203. Von Willebrand Disease
  1204. Waardenburg Syndrome
  1205. WAGR Syndrome/11p Deletion Syndrome
  1206. Waldenström’s Macroglobulinemia
  1207. Walker Warburg Syndrome
  1208. Wandering Spleen
  1209. Warburg Micro Syndrome
  1210. Warm Antibody Hemolytic Anemia
  1211. WAS Related Disorders
  1212. Weaver Syndrome
  1213. Weil Syndrome
  1214. Weill Marchesani Syndrome
  1215. Weismann Netter Stuhl Syndrome
  1216. Werdnig-Hoffmann Disease
  1217. Werner Syndrome
  1218. Wernicke-Korsakoff Syndrome
  1219. West Nile Encephalitis
  1220. West syndrome
  1221. WHIM Syndrome
  1222. Whipple Disease
  1223. Wieacker Syndrome
  1224. Wiedemann Rautenstrauch Syndrome
  1225. Wildervanck Syndrome
  1226. Williams Syndrome
  1227. Wilms’ Tumor
  1228. Wilson Disease
  1229. Winchester Syndrome
  1230. WNT4 Deficiency
  1231. Wolf-Hirschhorn Syndrome
  1232. Wolff Parkinson White Syndrome
  1233. Wolfram Syndrome
  1234. Wolman Disease
  1235. Wyburn-Mason Syndrome
  1236. X linked Lymphoproliferative Syndrome
  1237. X linked Retinoschisis
  1238. X-Linked Myopathy with Excessive Autophagy
  1239. X-Linked Myotubular Myopathy
  1240. X-linked Opitz G/BBB Syndrome
  1241. X-Linked Protoporphyria
  1242. Xeroderma Pigmentosum
  1243. XYY Syndrome
  1244. Yaws
  1245. Yellow Fever
  1246. Yellow Nail syndrome
  1247. Yunis Varon Syndrome
  1248. Zellweger Spectrum Disorders
  1249. Zollinger-Ellison Syndrome
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