Carrier Screening (rare diseases, syndromes and traits) | Sequencing.com

Carrier Screening (rare diseases, syndromes and traits)

The Rare Disease Screen app includes comprehensive analysis of all the following diseases, syndromes, conditions and traits:

  1. 17 Alpha-hydroxylase / 17,20-Lyase Deficiency, Combined Complete
  2. 17 Beta-hydroxysteroid Dehydrogenase 3 Deficiency
  3. 25-hydroxyvitamin D Deficiency
  4. 2-methyl-3-hydroxybutyryl-CoA Dehydrogenase Deficiency
  5. 3-methylcrotonyl-CoA Carboxylase 1 Deficiency, Biotin Responsive
  6. 3-methylcrotonyl-CoA Carboxylase 2 Deficiency
  7. 3-methylglutaconic Aciduria, Type III
  8. Aarskog-Scott syndrome
  9. Achromatopsia
  10. Achromatopsia 3
  11. Acquired Idiopathic Sideroblastic Anemia
  12. Acromesomelic Dysplasia, Maroteaux Type
  13. Actin Myopathy
  14. Acute Hepatic Porphyria, Severe Infantile-onset
  15. Acute Lymphoblastic Leukemia
  16. Acute Myeloid Leukemia with Complex Karyotype
  17. Adenine Phosphoribosyltransferase Deficiency
  18. Adenosine Deaminase Deficiency, Partial
  19. Adenosine Monophosphate Deaminase Deficiency
  20. Adenylosuccinase Deficiency
  21. Adiponectin Deficiency
  22. Adrenal Hyperplasia
  23. Adrenal Hyperplasia II, Deficiency of 3-Beta-hydroxysteroid Dehydrogenase, Type II
  24. Adrenal Hypoplasia, Congenital
  25. Adrenal Insufficiency, Congenital
  26. Adrenoleukodystrophy, Neonatal
  27. Agammaglobulinemia
  28. Agammaglobulinemia and Isolated Growth Hormone Deficiency
  29. Alagille Syndrome
  30. Albinism, Ocular, Type I
  31. Albinism, Oculocutaneous, Type I, Temperature Sensitive
  32. Albinism, Oculocutaneous, Type IA
  33. Albinism, Oculocutaneous, Type III
  34. Alexander Disease
  35. Alkaptonuria
  36. Allan-Herndon-Dudley Syndrome
  37. Alopecia Areata
  38. Alopecia Universalis Congenita
  39. Alpers Syndrome
  40. Alpers-like Hepatocerebral Syndrome
  41. Alpha-1-Antitrypsin Deficiency
  42. Alpha-B Crystallinopathy with Cataract
  43. Alport Syndrome
  44. Alström Syndrome
  45. Alzheimer’s Disease, Early-onset (Familial)
  46. Amish Infantile Epilepsy Syndrome
  47. Amyloid Polyneuropathy, Andrade or Portuguese Type
  48. Amyloidosis I
  49. Amyloidosis I, Hereditary Neuropathic
  50. Amyloidosis III
  51. Amyloidosis, Familial, Finnish Type
  52. Amyloidosis, Familial, Visceral
  53. Amyloidosis, Reactive Amyloid Systemic
  54. Amyloidotic Polyneuropathy, Cardiac or Denmark Type
  55. Amyloidotic Polyneuropathy, German-American Type
  56. Andermann Syndrome
  57. Andersen Cardiodysrhythmic Periodic Paralysis
  58. Anderson Disease
  59. Androgen Insensitivity Syndrome
  60. Androgen Insensitivity Syndrome, Infertility, Male
  61. Androgen Insensitivity, Complete
  62. Androgen Insensitivity, Partial
  63. Angelman Syndrome
  64. Aniridia
  65. Antenatal Bartter Syndrome, Type 2
  66. Antiplasmin Alpha 2 Deficiency
  67. Antithrombin III Deficiency
  68. Aortic Aneurysm, Familial Thoracic
  69. Aortic Aneurysm, Familial Thoracic 4
  70. Aortic Aneurysm, Familial Thoracic 5
  71. Apert Syndrome
  72. Apolipoprotein A2 Deficiency
  73. Apolipoprotein B Deficiency
  74. Apolipoprotein H Deficiency
  75. APRT Deficiency
  76. APRT Deficiency, Japanese Type
  77. Aquaporin-1 Deficiency Colton-Null
  78. Argininemia
  79. Argininosuccinic Aciduria
  80. Arterial Aneurysms, Familial
  81. Arthrogryposis, Distal, Type 2A
  82. Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome
  83. Arylsulfatase A Pseudodeficiency
  84. Ascending Spastic Paralysis, Infantile-onset
  85. Leber Hereditary Optic Atrophy
  86. Ataxia
  87. Ataxia, Episodic / Myokymia
  88. Ataxia and Retinitis Pigmentosa with Isolated Vitamin E Deficiency
  89. Ataxia, Isolated Vitamin E Deficiency
  90. Ataxia, Spinocerebellar
  91. Ataxia, Spinocerebellar, 6
  92. Ataxia Telangiectasia
  93. Ataxia Telangiectasia without Immunodeficiency
  94. Ataxia Telangiectasia-like Disease
  95. Ataxia-ocular Apraxia 2
  96. Atelosteogenesis, Type IB 
  97. Atelosteogenesis, Type II 
  98. Atrial Septal Defect
  99. Atrial Septal Defect with Atrioventricular Conduction Defects
  100. Atrichia with Papular Lesions
  101. Atrioventricular Block, Idiopathic Second-Degree
  102. Atrioventricular Septal Sefect
  103. ATRX Syndrome
  104. Auditory Neuropathy, Nonsyndromic 
  105. Auditory Neuropathy, Temperature-sensitive
  106. Autoimmune and Autoinflammatory Diseases
  107. Autoimmune Lymphoproliferative Syndrome, Type II
  108. Autoimmune Lymphoproliferative Syndrome, Type IIA
  109. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
  110. Azoospermia, Obstructive
  111. Bardet-Biedl Syndrome 1
  112. Bardet-Biedl Syndrome 4
  113. Bardet-Biedl Syndrome 10
  114. Bardet-Biedl Syndrome 13
  115. Bardet-Biedl Syndrome 14
  116. Bare Lymphocyte Syndrome, Type I
  117. Bart Syndrome
  118. Barth syndrome
  119. Bartter Syndrome
  120. Bartter Syndrome, Antenatal, Type 1
  121. Bartter Syndrome, Type 3
  122. Beare-Stevenson Cutis Gyrata Syndrome
  123. Benign Familial Hematuria
  124. Benign Hereditary Chorea
  125. Berardinelli-Seip lipodystrophy
  126. Bernard-Soulier Syndrome, Type A
  127. Bernard-Soulier Syndrome, Type C
  128. Beta Thalassemia
  129. Beta-hexosaminidase A, Pseudodeficiency of
  130. Bethlem Myopathy
  131. Bilateral Striatal Necrosis, Infantile
  132. Bile Acid Synthesis Defect, Congenital, 4
  133. Biliary Atresia, Extrahepatic
  134. Biotinidase Deficiency
  135. Biotinidase Deficiency, Partial
  136. Blau Syndrome
  137. Blepharophimosis, Ptosis, and Epicanthus Inversus, Type I
  138. Blindness
  139. Color Blindness, Deutan
  140. Night Blindness, Congenital Stationary, Type 1
  141. Night Blindness, Congenital Stationary, Type 1B
  142. Night Blindness, Congenital Stationary, Type 2
  143. Night Blindness, Congenital Stationary, Type 2, Severe
  144. Night Blindness, Congenital Stationary, Type 2B
  145. Blood Group Variant: Auberger Au(a)/Au(b)
  146. Blood Group Variant: Bombay Phenotype
  147. Blood Group Variant: Colton
  148. Blood Group Variant: Diego
  149. Blood Group Variant: Dombrock
  150. Blood Group Variant: Dombrock-null
  151. Blood Group Variant: Froese
  152. Blood Group Variant: Kidd
  153. Blood Group Variant: Lewis Antigen, absence of
  154. Blood Group Variant: p Phenotype
  155. Blood Group Variant: P(k) Antigen
  156. Blood Group Variant: Ralph
  157. Blood Group Variant: Swann
  158. Blood Group Variant: Waldner
  159. Blood Group Variant: Wright
  160. Bloom Syndrome
  161. Borjeson-Forssman-Lehmann Syndrome
  162. Bothnia Retinal Dystrophy Retinitis Punctata Albescens
  163. Brachydactyly, Type A1
  164. Brachydactyly, Type A2
  165. Brachydactyly, Type B1
  166. Brachydactyly, Type C
  167. Brachydactyly, Type E 
  168. Brachydactyly, Type D
  169. Butyrylcholinesterase Deficiency
  170. Butyrylcholinesterase Deficiency, Fluoride-resistant, Japanese Type
  171. C (Opitz Trigonocephaly) Syndrome
  172. Cabezas Syndrome
  173. Caffey Disease
  174. Camurati-Engelmann Disease
  175. Canavan Disease
  176. Capillary Malformation-Arteriovenous Malformation
  177. Carbohydrate-deficient Glycoprotein Syndrome, Type II
  178. Carbonic Anhydrase Deficiency
  179. Cardiac Conduction Disease
  180. Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency
  181. Cardiofaciocutaneous Syndrome
  182. Cardiomyopathy, X-linked Infantile
  183. Carney Complex
  184. Carney Complex Variant
  185. Carnitine Deficiency, Systemic Primary
  186. Carnitine Palmitoyltransferase Deficiency, Hepatic, Type IA
  187. Carnitine Palmitoyltransferase II Deficiency
  188. Carnitine Palmitoyltransferase II Deficiency, Infantile
  189. Carnitine Palmitoyltransferase II Deficiency, Late-onset
  190. Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
  191. Carnitine-acylcarnitine Translocase Deficiency
  192. Cartilage-Hair Hypoplasia
  193. Caspase-8 Deficiency
  194. Cataract, Central Nuclear
  195. Cataract, Congenital
  196. Cataract, Coppock-like
  197. Cataract, Marner Type
  198. Cataract, Ocular Anterior Dysgenesis and Coloboma
  199. Cataract, Primary Congenital 
  200. Cataract, Congenital Lamellar
  201. Caudal Regression Syndrome
  202. CD36 Deficiency
  203. Central Core Disease
  204. Central Hypoventilation Syndrome
  205. Centronuclear Myopathy
  206. Centronuclear Myopathy, Becker Muscular Dystrophy
  207. Cerebellar Ataxia, Cataracts, and Diabetes Mellitus
  208. Cerebellar Ataxia, Cayman Type
  209. Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
  210. Cerebral Cavernous Malformations
  211. Cerebroarterial Amyloidosis, Icelandic-type
  212. Cerebrooculofacioskeletal Syndrome 4
  213. Cerebrotendinous Xanthomatosis
  214. Cerulean Cataract, Congenital
  215. Cervical Artery Dissections, Spontaneous
  216. Chanarin-Dorfman Syndrome
  217. Charcot-Marie-Tooth Disease, Type 1A 
  218. Charcot-Marie-Tooth Disease, Type 1B
  219. Charcot-Marie-Tooth Disease, Type 1D
  220. Charcot-Marie-Tooth Disease, Axonal, Type 2A1
  221. Charcot-Marie-Tooth Disease, Axonal, Type 2A2
  222. Charcot-Marie-Tooth Disease, Axonal, Type 2B1
  223. Charcot-Marie-Tooth Disease, Axonal, Type 2D 
  224. Charcot-Marie-Tooth Disease, Axonal, Type 2E
  225. Charcot-Marie-Tooth Disease, Axonal, Type 2K
  226. Charcot-Marie-Tooth Disease, Type 2F
  227. Charcot-Marie-Tooth Disease, Type 2J 
  228. Charcot-Marie-Tooth Disease, Type 4C
  229. Charcot-Marie-Tooth Disease, Type 4F
  230. Charcot-Marie-Tooth Disease, Type 4H
  231. Charcot-Marie-Tooth Disease, Type 4J
  232. Charcot-Marie-Tooth Disease, Type 5
  233. Charcot-Marie-Tooth Disease, Type 6
  234. CHARGE Syndrome
  235. Chediak-Higashi Syndrome, Childhood Type
  236. Cherubism
  237. Cholesterol Ester Storage Disease
  238. Cholinesterasaemia
  239. Chondrocalcinosis 2
  240. Chondrodysplasia Punctata
  241. Choreoacanthocytosis
  242. Choroideremia
  243. Chronic Granulomatous Disease, Cytochrome b-Negative
  244. Chronic Granulomatous Disease, Cytochrome b-Positive, Chronic
  245. Chronic Granulomatous Disease, Cytochrome b-Positive,  Type II
  246. Chronic Insomnia
  247. Chronic Obstructive Pulmonary Disease, Severe Early-onset
  248. Chylomicron Retention Disease
  249. Ciliary Dyskinesia, Primary
  250. Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
  251. Cleft Palate and Ankyloglossia
  252. Cleidocranial Dysplasia
  253. Coagulation Defect, Vitamin K-Dependent
  254. Cohen Syndrome
  255. Combined Deficiency of Vitamin K-dependent Clotting Factors, Type 2
  256. Combined Oxidative Phosphorylation Deficiency
  257. Combined SAP Deficiency
  258. Complement C2 Deficiency, Type II
  259. Complement C3 Deficiency
  260. Complement C5 Deficiency
  261. Complete Adenine Phosphoribosyltransferase Deficiency, Icelandic Type
  262. Complex 1 Deficiency
  263. Complex 3 Deficiency
  264. Cone-rod Dystrophy
  265. Cone-rod Dystrophy 3
  266. Cone-rod Dystrophy 3
  267. Cone-rod Dystrophy 6
  268. Cone-rod Dystrophy 9
  269. Congenital Adrenal Hyperplasia
  270. Congenital Adrenal Hyperplasia due to Steroid-11 Beta-hydroxylase Deficiency
  271. Congenital Adrenal Hyperplasia, Non-classic
  272. Congenital Afibrinogenemia, Congenital Hypofibrinogenemia
  273. Congenital Cataract 
  274. Congenital Central Hypoventilation Syndrome
  275. Congenital Disorder of Glycosylation, Type Ia
  276. Congenital Disorder of Glycosylation, Type Ib
  277. Congenital Disorder of Glycosylation, Type Ic
  278. Congenital Disorder of Glycosylation, Type Id
  279. Congenital Disorder of Glycosylation, Type Ig
  280. Congenital Disorder of Glycosylation, Type Ik
  281. Congenital Disorder of Glycosylation, Type IIc
  282. Congenital Erythropoietic Porphyria
  283. Congenital Erythropoietic Porphyria, Mild, Cutaneous-only
  284. Congenital Fast Channel Myasthenic Syndrome
  285. Congenital Heart Defects
  286. Congenital Heart Disease Heterotaxy
  287. Congenital Insensitivity to Pain Syndrome
  288. Congenital Lipoid Adrenal Hyperplasia
  289. Congenital Merosin Deficient Muscular Dystrophy 
  290. Congenital Muscular Dystrophy, Type 1C, with Neurologic Abnormalities
  291. Congenital Myasthenic Syndrome
  292. Congenital Myasthenic Syndrome associated with Acetylcholine Receptor Deficiency
  293. Congenital Nephrosis 1, Finnish Type
  294. Congenital Sick Sinus Syndrome
  295. Congenital Slow Channel Myasthenic Syndrome
  296. Conjunctivitis, Ligneous
  297. Connatal Pelizaeus-Merzbacher Disease
  298. Contractural Arachnodactyly, Congenital
  299. Coproporphyria
  300. Corticosteroid-binding Globulin Deficiency
  301. Costello Syndrome
  302. Cowden Disease Bannayan-Riley-Ruvalcaba Syndrome
  303. Cowden Disease Bannayan-Riley-Ruvalcaba Syndrome, Macrocephaly/Autism Syndrome
  304. Craniofrontonasal Syndrome
  305. Craniometaphyseal Dysplasia
  306. Craniosynostosis Muenke Syndrome
  307. Creutzfeldt-Jakob Syndrome
  308. Crigler-Najjar Syndrome 1
  309. Crigler-Najjar Syndrome 2
  310. Crouzon syndrome
  311. Crouzon Syndrome with Acanthosis Nigricans
  312. Crouzonodermoskeletal Syndrome
  313. Cutis Laxa
  314. Cystathioninuria
  315. Cystic Fibrosis
  316. Cystic Fibrosis, Non-classic
  317. Cystinuria
  318. Cystinuria, Non-type I
  319. Cytochrome c Oxidase Deficiency
  320. Cytochrome P450 Deficiency
  321. Danon Disease
  322. Darier Disease
  323. Deafness, Childhood-onset
  324. Deafness, Aminoglycoside-induced
  325. Deafness, Congenital Heart Defects, and Posterior Embryotoxon
  326. Deafness, Congenital, Neurosensory
  327. Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
  328. Deafness, Neurosensory
  329. Deafness, Neurosensory 21
  330. Deafness, Neurosensory without Vestibular Involvement
  331. Deafness, Nonsyndromic
  332. Deafness, Nonsyndromic Sensorineural
  333. Deafness, Autosomal Recessive 1
  334. Deafness, Nonsyndromic Sensorineural 3
  335. Deafness, Nonsyndromic Sensorineural 8
  336. Deafness, Nonsyndromic Sensorineural 12
  337. Deafness, Autosomal Dominant 12
  338. Deafness, Nonsyndromic Sensorineural with Dentinogenesis Imperfecta, Type I
  339. Deafness, Progressive
  340. Deafness, Sensorineural, with Migraine
  341. Deafness, Sensorineural, with Mild Renal Dysfunction
  342. Decreased Androgen (DHEA) Secretion
  343. Deficiency of 3-Beta-hydroxysteroid Dehydrogenase, Type II
  344. Deficiency of Factor XIII, A Subunit
  345. Dejerine-Sottas Neuropathy
  346. Delayed Sleep Phase Syndrome
  347. Demyelinating Charcot-Marie-Tooth Disease 4A Axonal Neuropathy with Vocal Cord Paresis, Axonal Charcot-Marie-Tooth Disease, Type 2K
  348. Dent Disease
  349. Dentinogenesis Imperfecta, Severe, with Very Mild Osteogenesis Imperfecta
  350. Dentinogenesis Imperfecta, Type I 
  351. Dentinogenesis Imperfecta, Shields Type II 
  352. Dentinogenesis Imperfecta, Shields Type III
  353. Denys-Drash Syndrome
  354. Denys-Drash Syndrome Mesangial Sclerosis, Isolated Diffuse
  355. Desmosterolosis
  356. Diabetes Insipidus, Central
  357. Diabetes Insipidus, Nephrogenic
  358. Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
  359. Diabetes Mellitus, Permanent Neonatal
  360. Diarrhea, Malabsorptive, Congenital
  361. Diastrophic Dysplasia
  362. Dihydropteridine Reductase Deficiency
  363. Dihydropyrimidine Dehydrogenase Deficiency
  364. Dihydropyrimidine Dehydrogenase Deficiency, Possible 5-FU Toxicity
  365. Dihydropyrimidine Dehydrogenase Deficiency, Partial
  366. Dilatative Myopathy
  367. Disordered Steroidogenesis
  368. Distal Arthrogryposis Syndrome 1
  369. Distal Arthrogryposis Syndrome 2b
  370. Distal Renal Tubular Acidosis
  371. Distal Renal Tubular Acidosis with Late-onset Sensorineural Hearing Loss
  372. Distal Renal Tubular Acidosis with Progressive Deafness
  373. Dopamine Beta Hydroxylase Deficiency
  374. Drug-induced Hemolysis Haemoglobin Variant
  375. Dubin-Johnson Syndrome
  376. Dysalbuminemic Hyperthyroxinaemia, Familial
  377. Dysautonomia, Familial
  378. Dysfibrinogenaemia 
  379. Fibrinogen Amiens 1 
  380. Fibrinogen Amiens 2
  381. Fibrinogen Bergamo 3
  382. Fibrinogen Bern 2
  383. Fibrinogen Bicetre 1
  384. Fibrinogen Birmingham 1
  385. Fibrinogen Chapel Hill 2
  386. Fibrinogen Clermont-Ferrand 1
  387. Fibrinogen Giessen 1
  388. Fibrinogen Leitchfield
  389. Fibrinogen Long Beach 1
  390. Fibrinogen Louisville 1
  391. Fibrinogen Manchester 1
  392. Fibrinogen Paris 6
  393. Fibrinogen Petoskey 1
  394. Fibrinogen Seattle 2
  395. Fibrinogen Sheffield 2
  396. Fibrinogen Sydney 1
  397. Fibrinogen Sydney 2
  398. Fibrinogen White Marsh 1
  399. Dysfibrinogenemia
  400. Dysfibrinogenemia, Fibrinogen Bergamo 1
  401. Dysfibrinogenemia Thrombophilia, Dysfibrinogenemic
  402. Fibrinogen Hershey 2
  403. Fibrinogen Homburg 2
  404. Fibrinogen Homburg 3
  405. Fibrinogen Kawaguchi 1
  406. Fibrinogen Leogan
  407. Fibrinogen Metz 1
  408. Fibrinogen New Albany
  409. Fibrinogen Osaka 1
  410. Fibrinogen Schwarzach 1
  411. Fibrinogen Stony Brook 1
  412. Fibrinogen Zurich 1
  413. Fibrinogen Torino 1
  414. Fibrinogen Ledyard
  415. Fibrinogen Hershey 3
  416. Fibrinogen Milano XII, Digenic
  417. Dyskeratosis Congenita
  418. Dystonia 12
  419. Dystonia, Adult-onset
  420. Dystonia, Dopa-responsive
  421. Dystonia, Torsion
  422. Ehlers-Danlos Syndrome
  423. Ehlers-Danlos Syndrome, Cardiac Valvular Form
  424. Ehlers-Danlos Syndrome, Hypermobility Type
  425. Ehlers-Danlos Syndrome, Progeroid Form
  426. Ehlers-Danlos Syndrome, Spondylocheiro Dysplastic Form
  427. Ehlers-Danlos Syndrome, Type I
  428. Ehlers-Danlos Syndrome, Type II
  429. Ehlers-Danlos Syndrome, Type IV
  430. Ehlers-Danlos Syndrome, Type VI-A
  431. Ehlers-Danlos Syndrome, Type VI-A, Nevo Syndrome
  432. Ehlers-Danlos Syndrome, Type VII
  433. Ehlers-Danlos Syndrome, Type VII-A
  434. Ehlers-Danlos Syndrome, Type VII-B
  435. Elliptocytosis
  436. Elliptocytosis, Hemolytic Anemia, Neonatal Nonimmune, Fatal and Near-fatal
  437. Elliptocytosis, Rhesus-Unlinked Type
  438. Elliptocytosis, Rhesus-Unlinked Type, Pyropoikilocytosis, Hereditary
  439. Encephalopathy, Ethylmalonic
  440. Encephalopathy, Familial, with Neuroserpin Inclusion Bodies
  441. Enhanced S-cone Syndrome
  442. Enhanced S-cone Syndrome, Retinitis Pigmentosa
  443. Epidermolysis Bullosa Dystrophica
  444. Epidermolysis Bullosa Dystrophica, Localisata Variant
  445. Epidermolysis Bullosa Simplex
  446. Epidermolysis Bullosa Simplex, Ogna Type
  447. Epidermolysis Bullosa with Pyloric Atresia
  448. Epidermolysis Bullosa without Pyloric Atresia, Generalized Atrophic Benign
  449. Epidermolysis Bullosa, Dowling-Meara
  450. Epidermolysis Bullosa, Generalized Atrophic Benign
  451. Epidermolysis Bullosa, Herlitz
  452. Epidermolysis Bullosa, Junctional
  453. Epidermolysis Bullosa, Junctional, Herlitz Type
  454. Epidermolysis Bullosa, Junctional, with Pyloric Atresia
  455. Epidermolysis Bullosa, Koebner
  456. Epidermolysis Bullosa, Lethal Acantholytic
  457. Epidermolysis Bullosa, Pretibial
  458. Epidermolysis Bullosa, Weber-Cockayne
  459. Epidermolytic Hyperkeratosis
  460. Epidermolytic Palmoplantar Keratoderma associated with Knuckle Pads
  461. Epilepsy, Benign Neonatal
  462. Epilepsy, Childhood Absence
  463. Epilepsy, Nocturnal Frontal Lobe
  464. Epilepsy, Progressive Myoclonus
  465. Epilepsy, Juvenile Absence
  466. Epilepsy, Juvenile Myoclonic
  467. Epilepsy, Severe Myoclonic, of Infancy (Dravet Syndrome)
  468. Epilepsy, Myoclonic, of Lafora
  469. Epilepsy, Myoclonic, with Mental Retardation and Spasticity
  470. Epiphyseal Dysplasia
  471. Epoxide Hydrolase Deficiency, Susceptibility to Lymphoproliferative Disorder
  472. Epstein Syndrome
  473. Erythermalgia, Primary
  474. Erythrocyte Lactate Transporter Defect
  475. Escobar Syndrome
  476. Essential Fructosuria
  477. Ethylmalonic Aciduria
  478. Excessive Daytime Sleepiness
  479. Exostoses, Multiple, Type II
  480. Extrapyramidal Movement Disorder
  481. Fabry Disease
  482. Faciogenital Dysplasia with Attention Deficit Hyperactivity Disorder
  483. Factor H Deficiency
  484. Factor V and Factor VIII Deficiency, Combined
  485. Factor V Deficiency
  486. Factor VII Deficiency
  487. Factor X Deficiency
  488. Factor XI Deficiency
  489. Factor XII Deficiency
  490. Familial Advanced Sleep Phase Syndrome
  491. Familial Cold Autoinflammatory Syndrome
  492. Familial Dysautonomia
  493. Familial Mediterranean Fever
  494. Fanconi Anemia, Complementation Group A
  495. Fanconi Anemia, Complementation Group C
  496. Fanconi Anemia, Complementation Group D1
  497. Fanconi Anemia, Complementation Group E
  498. Fanconi Anemia, Complementation Group J
  499. Fanconi Anemia, Complementation Group N
  500. Farber Lipogranulomatosis
  501. Fechtner Syndrome
  502. Fibromatosis, Juvenile Hyaline
  503. Fish-eye Disease
  504. Focal Segmental Glomerulosclerosis
  505. Foveomacular Dystrophy, Adult-onset, with Choroidal Neovascularization
  506. Fragile X Mental Retardation Syndrome
  507. Frasier Syndrome
  508. Friedreich Ataxia
  509. Friedreich-Like Ataxia with Isolated Vitamin E Deficiency
  510. Frontotemporal Dementia
  511. Frontotemporal Dementia, with Parkinsonism
  512. Frontotemporal Lobar Dementia, Ubiquitin-Positive
  513. Fuchs Endothelial Corneal Dystrophy, Polymorphous Posterior
  514. Fucosidosis
  515. Fucosyltransferase-6 Deficiency
  516. Fumarylacetoacetase Pseudodeficiency
  517. Galactosemia
  518. Galactosialidosis, Adult, Japanese Type
  519. Galactosialidosis, Late Infantile
  520. Gangliosidosis GM1
  521. Gangliosidosis GM1, Late Infantile/Juvenile Type
  522. Gaucher Disease, Type I
  523. Gaucher Disease, Type II
  524. Gaucher Disease, Type II, Perinatal Lethal Form
  525. Gaucher Disease, Type III
  526. Gaucher Disease, Type IIIC
  527. Gelatinous Drop-like Corneal Dystrophy 
  528. Generalized Epilepsy and Paroxysmal Dyskinesia
  529. Generalized Idiopathic Epilepsy Episodic Ataxia, Type 5
  530. Gerstmann-Straeussler Syndrome
  531. Giant Axonal Neuropathy
  532. Gilbert Syndrome
  533. Gitelman Syndrome
  534. Glanzmann Thrombasthenia
  535. Glaucoma, Primary Congenital
  536. Glaucoma 1, Open Angle, E
  537. Glaucoma 1, Open Angle, E, Glaucoma, Normal Tension
  538. Glaucoma 1A, Open Angle
  539. Glaucoma 1A, Primary Open Angle
  540. Glaucoma 1A, Primary Open Angle, Digenic
  541. Glaucoma 3A, Primary Congenital, Digenic
  542. Glucocorticoid Deficiency
  543. Glucose-6-phosphate Dehydrogenase Deficiency
  544. Glutamate Formiminotransferase Deficiency
  545. Glycine N-methyltransferase Deficiency
  546. Glycogen Storage Disease, Type 0
  547. Glycogen Storage Disease, Type Ia
  548. Glycogen Storage Disease, Type Ib
  549. Glycogen Storage Disease, Type II
  550. Glycogen Storage Disease, Type II, Adult Form
  551. Glycogen Storage Disease, Type II, Infantile Form
  552. Glycogen Storage Disease, Type IIIa
  553. Glycogen Storage Disease, Type IV, Classic Hepatic
  554. Glycogen Storage Disease, Type IV, Childhood Neuromuscular
  555. Glycogen Storage Disease, Type IV, Nonprogressive Hepatic
  556. Glycogen Storage Disease, Type VI
  557. Glycogen Storage Disease, Type VII
  558. GM1-Gangliosidosis, Adult/Chronic Type
  559. GM2-Gangliosidosis, Adult
  560. Goiter, Familial, with Hypothyroidism
  561. Goiter, Nonendemic Simple
  562. Gout, HPRT-related
  563. GRACILE Syndrome
  564. Greater Agonists Promoted Contractility
  565. Greig Cephalopolysyndactyly Syndrome
  566. Griscelli Syndrome, Type 2
  567. Growth Hormone Deficiency
  568. Growth Hormone Deficiency, Isolated
  569. Growth Hormone Deficiency, Isolated, Type 2
  570. Growth Retardation due to IGF1R
  571. Gyrate Atrophy
  572. Gyrate Atrophy with Pyridoxine-responsive Ornithinemia
  573. Haemoglobin H Disease
  574. Haemorrhagic Telangiectasia 1
  575. Hailey-Hailey Disease
  576. Haim-Munk Syndrome
  577. Harderoporphyria
  578. Harlequin Ichthyosis
  579. HARP Syndrome
  580. Hartnup Disorder
  581. Hawkinsinsuria
  582. Hearing Impairment, Nonsyndromic Sensorineural
  583. Hemochromatosis
  584. Hemochromatosis, Type 2A
  585. Hemochromatosis, Type 3
  586. Hemochromatosis, Type 4
  587. Hemolytic Anemia
  588. Hemolytic Anemia due to Adenylate Kinase Deficiency
  589. Hemolytic Anemia due to Glutathione Synthetase Deficiency of Erythrocytes
  590. Hemolytic Anemia due to Triosephosphate Isomerase Deficiency
  591. Hemolytic Anemia, Rh-Null, Regulator Type
  592. Hemolytic Uremic Syndrome
  593. Hemophagocytic Lymphohistiocytosis, Familial
  594. Hemophilia A
  595. Hemophilia B
  596. Hemophilia B, Leyden
  597. Hemophilia B, Brandenburg
  598. Hemorrhagic Diathesis due to Antithrombin Pittsburgh
  599. Heparin Cofactor II Deficiency
  600. Hepatic Lipase Deficiency
  601. Hereditary Angioedema, Type II
  602. Hereditary Haemorrhagic Telangiectasia, Type 2
  603. Hereditary Hypophosphatemic Rickets with Hypercalciuria
  604. Hereditary Myopathy with Early Respiratory Failure
  605. Hereditary Nonpolyposis Colorectal Cancer, Type 1
  606. Hereditary Nonpolyposis Colorectal Cancer, Type 2
  607. Hereditary Nonpolyposis Colorectal Cancer, Type 5
  608. Hereditary Nonpolyposis Colorectal Cancer, Type 7
  609. Hereditary Nonployposis Colorectal Cancer, Type 9
  610. Hereditary Nonployposis Colorectal Cancer, Type 10
  611. Hereditary Persistence of Fetal Hemoglobin
  612. Hermansky-Pudlak Syndrome
  613. Heterotaxy
  614. Hidrotic Ectodermal Dysplasia
  615. High Myopia
  616. Hirschsprung Disease
  617. Hirschsprung Disease, Congenital Hypoventilation Syndrome
  618. Hirschsprung Disease, Waardenburg-Shah Syndrome
  619. HLA Class I Deficiency
  620. HMG-CoA Lyase Deficiency
  621. HMG-CoA Synthase Deficiency
  622. Holocarboxylase Synthetase Deficiency
  623. Holoprosencephaly 2
  624. Holoprosencephaly 3
  625. Holoprosencephaly 5
  626. Holoprosencephaly 7
  627. Holoprosencephaly 9
  628. Homocystinuria
  629. Hurler Syndrome
  630. Hutchinson-Gilford Progeria Syndrome, Restrictive Dermatopathy, Lethal
  631. Hydatidiform Mole, Recurrent
  632. Hydrocephalus, X-linked
  633. Hyperbilirubinemia, Transient Familial Neonatal
  634. Hypercholanemia, Familial
  635. Hypercholesterolemia, Familial
  636. Hyperekplexia
  637. Hyperglycerolemia
  638. Hyperglycinemia, Non-ketotic Glycine Encephalopathy
  639. Hypergonadotrophic Hypogonadism, Female
  640. Hyperhomocysteinemia due to MTHFR Deficiency, Folate Responsive
  641. Hyper-IgD Syndrome
  642. Hyper-IgE Syndrome
  643. Hyperinsulinism-hyperammonemia Syndrome
  644. Hyperkalaemic Periodic Paralysis, Paramyotonia Congenita
  645. Hyperlipidemia, Familial Combined
  646. Hyperornithinemia-hyperammonemia-homocitrullinemia Syndrome
  647. Hyperostosis-Hyperphosphatemia Syndrome 
  648. Hyperphenylalaninemia
  649. Hyperphenylalaninemia, Non-PKU
  650. Hyperproinsulinaemia, Familial
  651. Hyperprolinemia, Type 1 Schizophrenia
  652. Hypertriglyceridemia, Hereditary
  653. Hypocalciuric Hypercalcaemia, Familial, Hypoparathyrodism, Familial Isolated
  654. Hypocholesterolaemia
  655. Hypocholinesterasaemia
  656. Hypochondroplasia
  657. Hypogammaglobulinemia
  658. Hypoglycaemia, Persistent Hyperinsulinaemic
  659. Hypoglycemia
  660. Hypogonadotropic Hypogonadism
  661. Hypogonadotropic Hypogonadism, Fertile Eunuch Syndrome
  662. Hypokalaemic Periodic Paralysis
  663. Hypomagnesaemia with Secondary Hypocalcaemia
  664. Hypomagnesaemia, Primary
  665. Hypomagnesaemia, Renal
  666. Hypoparathyroidism, Familial Isolated
  667. Hypoparathyroidism, Familial Isolated, Hypocalemia with Bartter Syndrome
  668. Hypoparathyroidism-retardation-dysmorphism Syndrome
  669. Hypophosphatasia, Infantile
  670. Hypophosphatasia, Infantile, Mild
  671. Hypophosphatemia
  672. Hypophosphatemic Rickets
  673. Hypoplastic Left Heart Syndrome, Atrioventricular Septal Defect
  674. Hypothyroidism, Thyroid Hormonogenesis, Genetic Defect in
  675. Hypothyroidism, Congenital, Nongoitrous
  676. Hypotrichosis
  677. Hypotrichosis Simplex
  678. Hypotrichosis Simplex of Scalp
  679. Hypoxanthine Guanine Phosphoribosyltransferase Deficiency
  680. Hystrix-Like Ichthyosis with Deafness, Keratitis-ichthyosis-deafness Syndrome
  681. Ichthyosis Vulgaris
  682. Ichthyosis with Hypotrichosis
  683. Ichthyosis, Harlequin
  684. Ichthyosis, Lamellar 
  685. Idiopathic Infantile Nystagmus 
  686. Idiopathic Pulmonary Fibrosis
  687. Idiopathic Restrictive Cardiomyopathy
  688. Immunodeficiency with Hyper-IgM, Type 2
  689. Immunodeficiency with Hyper-IgM, Type 3
  690. Immunodeficiency with Hyper-IgM, Type 5
  691. Immunologically Anomalous Variant
  692. Inclusion Body Myopathy
  693. Infantile Nephronophthisis
  694. Intrahepatic Cholestasis of Pregnancy
  695. Intrahepatic Cholestasis, Familial Progressive 2
  696. Intrauterine and Postnatal Growth Retardation (Short Stature)
  697. Iodide Transport Defect, Thyroid Hormonogenesis, Genetic Defect in
  698. IPEX syndrome
  699. Iris Flocculi
  700. Isolated Lissencephaly Sequence
  701. Isolated Partial Atrioventricular Septal Defect
  702. Isovaleric Acidemia
  703. ITPase Deficiency
  704. Jervell and Lange-Nielsen Syndrome
  705. JK-Null Variant, Finnish Type
  706. Joubert Syndrome
  707. Joubert Syndrome 2
  708. Joubert Syndrome 3
  709. Joubert Syndrome, Leber Congenital Amaurosis, Type X
  710. Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
  711. Kallmann Syndrome
  712. Kallmann Syndrome 2
  713. Kartagener Syndrome
  714. Hemolytic Disease of the Newborn due to Anti-K
  715. Keratitis-ichthyosis-deafness Syndrome
  716. Keratoderma, palmoplantar
  717. Keratoderma, Palmoplantar, with Deafness, Nonsyndromic Sensorineural
  718. Knuckle pads, Leukonychia, Sensorineural Deafness
  719. Kowarski Syndrome
  720. Larsen Syndrome
  721. Late Infantile Metachromatic Leukodystrophy
  722. Lateral Temporal Lobe Epilepsy
  723. Lead Poisoning, Increased Susceptibility to
  724. Leber Congenital Amaurosis, Type I
  725. Leber Congenital Amaurosis, Type III
  726. Leber Congenital Amaurosis, Type VI
  727. Leber Congenital Amaurosis, Type VII
  728. Leber Congenital Amaurosis, Type X
  729. Leber Hereditary Optic Neuropathy
  730. Leber Hereditary Optic Neuropathy, Severe
  731. Leber Optic Atrophy
  732. Leigh Syndrome
  733. Leigh Syndrome due to Mitochondrial Complex I Deficiency
  734. Leigh Syndrome, French-Canadian Type
  735. Leiomyomatosis and Renal Cell Cancer
  736. Leprechaunism
  737. Lesch-Nyhan Syndrome
  738. Lethal Arthrogryposis with Anterior Horn Cell Disease
  739. Lethal Congenital Contracture Syndrome
  740. Lethal Contractural Syndrome, Type 3
  741. Leukocyte Adhesion Deficiency
  742. Leukoencephalopathy with Vanishing White Matter
  743. Leukoencephalopathy with Vanishing White Matter, Ovarioleukodystrophy 
  744. Leydig Cell Hypoplasia with Male Pseudohermaphroditism
  745. Liddle Syndrome
  746. Li-Fraumeni Syndrome
  747. Lipodystrophy with Diabetes
  748. Lipodystrophy, Familial Partial, Type II (Dunnigan)
  749. Lipoprotein Lipase Deficiency
  750. Lissencephaly, Subcortical Laminar Heterotopia
  751. Liver Glycogenosis, Type I
  752. Liver Glycogenosis, Type II
  753. Lujan-Fryns Syndrome
  754. Lymphangioleiomyomatosis
  755. Lymphoedema, Hereditary
  756. Lymphoedema-distichiasis Syndrome
  757. Macrocephaly/Autism Syndrome
  758. Macular Degeneration, Juvenile
  759. Macular Dystrophy
  760. Macular Dystrophy, Best
  761. Macular Dystrophy, Vitelliform
  762. Majeed Syndrome
  763. Mal de Meleda
  764. Malignant Hyperthermia
  765. Malonyl-CoA Decarboxylase Deficiency
  766. Mannose-binding Protein Deficiency
  767. Maple Syrup Urine Disease, Type IA
  768. Maple Syrup Urine Disease, Type IB
  769. Maple Syrup Urine Disease, Type II, Thiamine-response
  770. Maple Syrup Urine Disease, Type III
  771. Marfan Syndrome
  772. Marfan Syndrome, Atypical
  773. Marfan Syndrome, Neonatal
  774. Marfan Syndrome, Severe Classic
  775. Marfan Syndrome, Type II
  776. Marfanoid Skeletal Syndrome
  777. MASA syndrome
  778. Mast Cell Leukemia
  779. Mastocytosis, Sporadic, Childhood-onset
  780. Maturity-onset Diabetes of the Young, Type III
  781. Maximum Parasitemia, Mild Malaria Attack
  782. May-Hegglin Anomaly
  783. McArdle Disease
  784. McCune-Albright Syndrome
  785. McKusick-Kaufman Syndrome
  786. Meckel Syndrome
  787. Meckel Syndrome, Type 3
  788. Mediterranean Macrothrombocytopenia
  789. Medium Chain Acyl CoA Dehydrogenase Deficiency
  790. Meesmann Corneal Dystrophy
  791. Megablastic Anemia, Norwegian
  792. Megalencephalic Leukoencephalopathy with Subcortical Cysts
  793. Megaloblastic Anemia, Finnish Type
  794. Megaloblastic Anemia, Thiamine-Responsive
  795. MELAS Syndrome
  796. Melnick-Needles syndrome
  797. Membranoproliferative Glomerulonephritis, Type II and Dense Deposit Disease
  798. Meningioma, Li-Fraumeni Syndrome
  799. Menkes Disease, Mild
  800. MERRF Syndrome
  801. MERRF/MELAS Overlap Syndrome
  802. Metachromatic Leukodystrophy, Atypical
  803. Metachromatic Leukodystrophy, Adult
  804. Metachromatic Leukodystrophy, Juvenile
  805. Metaphyseal Dysplasia without Hypotrichosis
  806. Methionine Synthase Reductase Deficiency
  807. Methylmalonic Aciduria, cblB type
  808. Methylmalonic Aciduria and Homocystinuria, cblC Type
  809. Methylmalonic Aciduria, mut(0) Type
  810. Mevalonic Aciduria
  811. Microhaematuria and Protinuria
  812. Microphallus
  813. Microphthalmia with Associated Anomalies
  814. Microphthalmia, Posterior, with Retinitis Pigmentosa, Foveoschisis and Optic Disc Drusen
  815. Migraine, Familial Hemiplegic
  816. Migraine, Familial Hemiplegic with Progressive Cerebellar Ataxia
  817. Migraine, Sporadic Hemiplegic with Progressive Cerebellar Ataxia
  818. Mitochondrial Complex 1 Deficiency
  819. Mitochondrial Cytochrome c Oxidase Deficiency
  820. Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form
  821. Mitochondrial Myopathy and Sideroblastic Anemia
  822. Mitochondrial Neurogastrointestinal Encephalopathy
  823. Mitochondrial Neurogastrointestinal Encephalopathy without Leukoencephalopathy
  824. Miyoshi Myopathy
  825. ML / LEOPARD Syndrome
  826. Monilethrix
  827. Mucolipidosis, Type II
  828. Mucolipidosis, Type II, Alpha/Beta
  829. Mucolipidosis, Type III
  830. Mucolipidosis, Type III, Alpha/Beta
  831. Mucolipidosis, Type III, Gamma
  832. Mucolipidosis, Type IIIC
  833. Mucolipidosis, Type IV
  834. Mucopolysaccharidosis, Type II, Severe Form
  835. Mucopolysaccharidosis, Type IVA
  836. Mucopolysaccharidosis, Type IVA, Mild
  837. Mucopolysaccharidosis, Type VI
  838. Multi-minicore Disease
  839. Multiple Acyl-CoA Dehydrogenase Deficiency
  840. Multiple Carboxylase Deficiency, Biotin-responsive
  841. Multiple Cutaneous and Uterine Leiomyomata
  842. Multiple Diastrophic Dysplasia
  843. Multiple Endocrine Neoplasia, Type I
  844. Multiple Endocrine Neoplasia, Type I, Burin Variant, Prolactinoma, Hyperparathyroid, Carcinoid Syndrome
  845. Multiple Endocrine Neoplasia, Type IIA, Pheochromocytoma
  846. Multiple Endocrine Neoplasia, Type IV
  847. Multiple Epiphyseal Dysplasia
  848. Muscle Weakness, Atrial Fibrilation, Hypertriglyceridaemia
  849. Muscle-eye-brain Disease
  850. Muscle-eye-brain Like Disease
  851. Muscular Dystrophy, Becker
  852. Muscular Dystrophy, Duchenne
  853. Muscular Dystrophy, Emery-Dreifuss
  854. Muscular Dystrophy, Limb Girdle, Type 1A, Myotilinopathy
  855. Muscular Dystrophy, Limb Girdle, Type 1B
  856. Muscular Dystrophy, Limb Girdle, Type 1C
  857. Muscular Dystrophy, Limb Girdle, Type 2B
  858. Muscular Dystrophy, Limb Girdle, Type 2D
  859. Muscular Dystrophy, Limb Girdle, Type 2E
  860. Muscular Dystrophy, Limb Girdle, Type 2I
  861. Muscular Dystrophy, Limb Girdle, Type 2K
  862. Muscular Dystrophy, Merosin Deficient
  863. Myasthenic Syndrome
  864. Myeloperoxidase Deficiency
  865. Myoclonus-Dystonia Syndrome
  866. Myofibrillar Myopathy, ZASP related
  867. Myopathy
  868. Myopathy due to Muscle Phosphoglycerate Mutase Deficiency
  869. Myopathy, Desmin related
  870. Myopathy, Distal, with Rimmed Vacuoles
  871. Myopathy, Early-onset and Progeria
  872. Myopathy, Mitochondrial, Late-onset
  873. Myopathy, Mitochondrial, with Diabetes Mellitus
  874. Myopathy, Variable, Inducable with Anesthesia
  875. Myotilinopathy
  876. Myotonia Fluctuans
  877. Myotonic Dystrophy, Type 1
  878. Nail-Patella Syndrome
  879. Naxos Disease
  880. Nemaline Myopathy
  881. Neonatal Adrenoleukodystrophy
  882. Neonatal Alloimmune Thrombocytopenic Purpura, Posttransfusion Purpura
  883. Neonatal Death, Leigh Syndrome
  884. Nephrolithiasis, Hypercalciuric
  885. Nephronophthisis
  886. Nephronophthisis 1
  887. Nephronophthisis, Familial Juvenile
  888. Nephrotic Syndrome, Steroid Resistant
  889. Netherton Syndrome
  890. Neural Tube Defects
  891. Neuroblastoma
  892. Neurofibromatosis, Type I
  893. Neurofibromatosis 1–like Phenotype
  894. Neurofibromatosis, Type II
  895. Neuronal Ceroid Lipofuscinosis
  896. Neuronal Ceroid Lipofuscinosis, Late Infantile
  897. Neuropathy, Axonal, with Vocal Cord Paresis
  898. Neuropathy, Axonal, Distal Hereditary Motor, Type IIB
  899. Neuropathy, Distal Hereditary Motor, Type V
  900. Neuropathy, Hereditary Sensory, Type I
  901. Neuropathy, Hereditary Sensory, Type II
  902. Neuropathy, Hereditary Sensory and Autonomic, Type V, Loss of Pain & Temperature Perception
  903. Neuropathy with Liability to Pressure Palsies
  904. Neutropenia, Congenital
  905. Neutropenia, Cyclic
  906. Neutropenia, Nonimmune Chronic Idiopathic, of Adults
  907. Neutropenia, Severe Congenital
  908. Nevus, Epidermal, Epidermolytic Hyerkeratotic Type
  909. Niemann-Pick Disease, Type A
  910. Niemann-Pick Disease, Type B
  911. Niemann-Pick Disease, Type C1
  912. Niemann-Pick Disease, Type C2
  913. Niemann-Pick Disease, Variant Type C1
  914. Nijmegen Breakage Syndrome
  915. Nocturnal Frontal Lobe Epilepsy, Type 4, with Nocturnal Wandering and Ictal Fear
  916. Noncompaction, Left Ventricular, associated with Congenital Heart Defects
  917. Noncompaction, Left Ventricular, Isolated
  918. Noncompaction, Left Ventricular Myocardium, Familial Isolated
  919. Non-heterotaxy Cardiac Malformation
  920. Nonsyndromic Hearing Impairment
  921. Noonan Syndrome
  922. Noonan Syndrome 3
  923. Noonan Syndrome, LEOPARD Syndrome
  924. Normal Tension Glaucoma
  925. Norrie Disease
  926. Nucleoside Phosphorylase Deficiency
  927. Obesity, Hyperphagia, and Developmental Delay
  928. Obesity, Severe
  929. Obesity, Morbid, with Hypogonadism
  930. Occlusive Cerebrovascular Disease
  931. Oculofaciocardiodental Syndrome
  932. Odontoonychodermal Dysplasia
  933. Omenn Syndrome
  934. Ophthalmoplegia, Progressive External with Hypogonadism
  935. Opitz-Kaveggia Syndrome
  936. Optic Atrophy 1
  937. Optic Atrophy 1 with Deafness 
  938. Optic Atrophy, Deafness, Opthalmoplegia, and Myopathy
  939. Optic Atrophy and Cataract
  940. Ornithine Transcarbamylase Deficiency
  941. Osteogenesis Imperfecta, Type I
  942. Osteogenesis Imperfecta, Type II
  943. Osteogenesis Imperfecta, Type III
  944. Osteogenesis Imperfecta, Type IV
  945. Osteogenesis Imperfecta/Ehlers-Danlos Crossover Syndrome
  946. Osteopetrosis
  947. Osteopetrosis, Type 2
  948. Osteoporosis-pseudoglioma Syndrome
  949. Otopalatodigital Syndrome 2
  950. Pachyonychia Congenita, Type 1
  951. Pachyonychia Congenita, Type 2
  952. Palmoplantar Keratoderma, Epidermolytic
  953. Pancreatitis, Chronic
  954. Pantothenate Kinase-associated Neurodegeneration, Atypical Pantothenate Kinase-associated Neurodegeneration
  955. PAPA syndrome
  956. Papillon-Lefevre Syndrome
  957. Paragangliomas, Phaeochromocytoma
  958. Paramyotonia congenital
  959. Parkinson Disease
  960. Parkinson Disease, Early-onset
  961. Parkinsonism, Juvenile, Autosomal Recessive
  962. Paroxysmal Extreme Pain Disorder
  963. Partial Atrioventricular Septal Defect and Heterotaxy Syndrome
  964. Peeling Skin Syndrome
  965. Pelizaeus-Merzbacher Disease, Mild
  966. Pendred Syndrome
  967. Periodic Fever, Autosomal Dominant
  968. Periodontitis, Juvenile
  969. Periventricular Heterotopia with Microcephaly
  970. Peroxisome Biogenesis Disorder
  971. Peroxisome Biogenesis Disorder, Complementation Group 3
  972. Peroxisome Biogenesis Disorder, Complementation Group 8
  973. Peroxisome Biogenesis Disorder, Complementation Group 9
  974. Persistence of Fetal Hemoglobin
  975. Peters' Anomaly
  976. Peutz-Jeghers Syndrome
  977. Pfeiffer Syndrome, Jackson-Weiss Syndrome
  978. Pfeiffer Syndrome, Type III
  979. Phenylketonuria
  980. Pheochromocytoma
  981. Phosphoserine Phosphatase Deficiency
  982. Piebaldism with Sensorineural Deafness
  983. Pigmentary Retinopathy and Sensorineural Deafness
  984. Pigmented Nodular Adrenocortical Disease, Primary
  985. Pigmented Paravenous Chorioretinal Atrophy
  986. Pitt-Hopkins Syndrome
  987. Placental Aromatase deficiency
  988. Platelet Glycoprotein IV Deficiency
  989. Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
  990. Polycythemia Vera
  991. Polycythemia, Chuvash Type
  992. Polymicrogyria, Bilateral Frontoparietal
  993. POR Deficiency
  994. Porphyria Cutanea Tarda
  995. Porphyria, Acute Hepatic, Delta-aminolevulinate Dehydratase Porphyria
  996. Porphyria, Acute Intermittent
  997. Porphyria, Acute Intermittent, Nonerythroid Variant
  998. Porphyria, Hepatoerythropoietic
  999. Porphyria, Variegate
  1000. Postanesthetic Apnea
  1001. Posterior Polymorphons Corneal Dystrophy 1
  1002. Prealbumin Chicago, Euthyroid Dystransthyretinemic Hyperthyroxinemia
  1003. Precocious Puberty, Male-Limited
  1004. Premature Ovarian Failure
  1005. Primary Congenital Glaucoma
  1006. Primary Spontaneous Pneumothorax
  1007. Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
  1008. Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Type 2
  1009. Progressive Familial Intrahepatic Cholestasis, Benign Recurrent Intrahepatic Cholestasis
  1010. Progressive Supranuclear Palsy
  1011. Progressive Supranuclear Palsy, Parkinson Disease
  1012. Prolonged Bleeding Time due to Plasminogen Activator Inhibitor 1 Deficiency
  1013. Properdin Deficiency, Type I
  1014. Properdin Deficiency, Type II
  1015. Propionic Acidemia
  1016. Protoporphyria, Erythropoietic
  1017. Pseudoachondroplasia
  1018. Pseudohermaphroditism, Leydig Cell Hypoplasia
  1019. Pseudohermaphroditism, Male
  1020. Pseudohypoaldosteronism, Type 1
  1021. Pseudohypoparathyroidism 1a, with Testotoxicosis
  1022. Pseudorheumatoid Dysplasia, Progressive
  1023. Pseudovaginal Perineoscrotal Hypospadias
  1024. Pseudoxanthoma Elasticum
  1025. Pulmonary Arterial Hypertension, Primary, Dexfenfluramine-associated
  1026. Pulmonary Hypertension, Primary
  1027. Pulmonary Surfactant Metabolism Dysfunction, Type 2, Respiratory Insufficiency, Infantile-onset Progressive
  1028. Pulmonary Toxicity when Exposed to Thioureas
  1029. Pycnodysostosis
  1030. Pyridoxine Responsive Homocystinuria
  1031. Pyruvate Carboxylase Deficiency
  1032. Pyruvate Dehydrogenase E1-alpha Deficiency
  1033. Pyruvate Dehydrogenase E1-beta Deficiency
  1034. Pyruvate Kinase Deficiency
  1035. Pyruvate Kinase Deficiency, Amish Type
  1036. RAPADILINO Syndrome
  1037. Refsum Disease
  1038. Refsum Disease, Infantile Form
  1039. Reifenstein Syndrome
  1040. Renal Glucosuria
  1041. Renal Tubular Dysgenesis
  1042. Restrictive Cardiomyopathy
  1043. Retinal Degeneration in Ciliopathies
  1044. Retinal Degeneration with Early Macular Involvement
  1045. Retinitis Pigmentosa
  1046. Retinitis Pigmentosa 1
  1047. Retinitis Pigmentosa 2
  1048. Retinitis Pigmentosa 4
  1049. Retinitis Pigmentosa 19
  1050. Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy
  1051. Retinitis Pigmentosa without Hearing Loss
  1052. Retinitis Pigmentosa, Digenic
  1053. Retinitis Pigmentosa, Late-onset
  1054. Retinitis Punctata Albescens
  1055. Retinitis Punctata Albescens, Newfoundland Rod-cone Dystrophy
  1056. Retinoblastoma
  1057. Retinoblastoma, Incomplete Penetrance Type
  1058. Rheumatoid Arthritis, Juvenile, Systemic Onset
  1059. Rhizomelic Chondrodysplasia Punctata, Type 2
  1060. Rhizomelic Chondrodysplasia Punctata, Type 3
  1061. Rickets, Vitamin D-dependent, Type I
  1062. Rickets, Vitamin D-dependent, Type II
  1063. Rickets, Vitamin D-resistant, Type I
  1064. Ring Dermoid of the Cornea
  1065. Rippling Muscle Disease 2
  1066. Robinow Syndrome
  1067. Rod Monochromacy
  1068. Romano-Ward Syndrome
  1069. Rothmund-Thomson Syndrome
  1070. Roussy-Levy Syndrome
  1071. Rubinstein-Taybi Syndrome
  1072. Saddan Dysplasia
  1073. Salt-Wasting Congenital Adrenal Hyperplasia
  1074. Sandhoff Disease, Infantile Type
  1075. Scheie Syndrome
  1076. Schnyder Crystalline Corneal Dystrophy
  1077. Schwannomatosis
  1078. Scott Syndrome
  1079. Seckel Syndrome
  1080. Segawa Syndrome
  1081. Senile Amyloidosis Inclusion Body Myositis
  1082. Senior-Loken Syndrome
  1083. Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis
  1084. Severe Combined Immunodeficiency (SCID), Athabascan-Type
  1085. Severe Combined Immunodeficiency (SCID), B Cell-negative 
  1086. Severe Combined Immunodeficiency (SCID), B Cell-negative, T Cell-negative, NK Cell-negative
  1087. Severe Combined Immunodeficiency (SCID), B Cell-positive T Cell-negative, NK Cell-positive
  1088. Severe Metachromatic Leukodystrophy
  1089. Shah-Waardenburg Syndrome
  1090. Short Chain Acyl-CoA-dehydrogenase Deficiency
  1091. Shwachman-Diamond Syndrome
  1092. Sialidosis, Type II
  1093. Sialuria
  1094. Sickle Cell Disease (Sickle Cell Anemia)
  1095. Sickle Cell Trait
  1096. Sideroblastic Anemia and Spinocerebellar Ataxia
  1097. Sideroblastic Anemia, Hereditary
  1098. Simple Virilizing Congenital Adrenal Hyperplasia
  1099. Simpson-Golabi-Behmel Syndrome
  1100. Sinus Bradycardia Syndrome, Familial
  1101. Sinus Node Disease
  1102. Sitosterolemia
  1103. Sjogren-Larsson Syndrome
  1104. Skeleton-Skin-Brain Syndrome
  1105. Skin Fragility-Woolly Hair Syndrome
  1106. Small Patella Syndrome
  1107. Smith-Lemli-Opitz Syndrome
  1108. Spastic Paralysis, Infantile-onset
  1109. Spastic Paraplegia
  1110. Spastic Paraplegia 3
  1111. Spastic Paraplegia 10
  1112. Spastic Paraplegia, Autosomal Dominant
  1113. Spherocytosis, Hereditary
  1114. Spherocytosis, Hereditary, due to Protein 4.2-Notame
  1115. Spherocytosis, Hereditary, Japanese Type
  1116. Spinal Muscular Atrophy, Distal, Childhood-onset
  1117. Spinal Muscular Atrophy, Type I
  1118. Spondyloepiphyseal Dysplasia Tarda
  1119. Spondyloepiphyseal Dysplasia Tarda and Arthropathy
  1120. Spondyloepiphyseal Dysplasia, Omani Type
  1121. Spongiform Encephalopathy with Neuropsychiatric Features
  1122. Stargardt Disease
  1123. Stargardt Disease, Cone-rod Dystrophy 3
  1124. Stargardt Disease, Mild
  1125. Steroid-5 Alpha-reductase Deficiency
  1126. Stiff Skin Syndrome
  1127. Subcortical Laminar Heterotopia/Pachygyria
  1128. Superoxide Dismutase, Elevated Extracellular
  1129. Supravalvular Aortic Stenosis
  1130. Symphalangism
  1131. Symphalangism, Proximal
  1132. Symphalangism, Type 1
  1133. Synpolydactyly 1
  1134. Tangier Disease
  1135. Tarsal-Carpal Coalition Syndrome
  1136. Tay-Sachs Disease
  1137. Tay-Sachs Disease, AB Variant
  1138. Tay-Sachs Disease, B1 Variant
  1139. Thalassemia Beta
  1140. Thalassemia Beta-Plus
  1141. Thalassemia Delta
  1142. Thanatophoric Dysplasia, Type I
  1143. Thanatophoric Dysplasia, Type II
  1144. Thin Basement Membrane Disease
  1145. Thoracic Aortic Aneurysm and Dissection
  1146. Thrombocythemia, Essential
  1147. Thrombocytopenia
  1148. Thrombocytopenia 1
  1149. Thrombocytopenia with associated Acute Myeloid Leukemia
  1150. Thrombocytosis
  1151. Thrombophilia due to Heparin Cofactor II Deficiency
  1152. Thrombophilia due to Plasminogen Deficiency
  1153. Thrombotic Thrombocytopenic Purpura, Congenital
  1154. Thyroid Hormone Resistance, Generalized
  1155. Thyroxine-binding Globulin Deficiency, Partial
  1156. Thyroxine-binding Globulin Deficiency, Slow
  1157. Tibial Muscular Dystrophy, Tardive
  1158. Timothy Syndome
  1159. Tolbutamide Poor Metabolizer
  1160. Total Iodide Organification Defect
  1161. Tourette Syndrome
  1162. Tourette Syndrome Facial Tic 
  1163. TPMT Deficiency
  1164. Transcobalamin II Deficiency
  1165. Transient Bullous Dermolysis of the Newborn
  1166. Transposition of the Great Arteries, Dextro-looped 
  1167. Treacher-Collins Syndrome
  1168. Trichorhinophalangeal Syndrome, Type I
  1169. Trichothiodystrophy Xeroderma Pigmentosum, Group D
  1170. Trichotillomania
  1171. Trigonocephaly Antley-Bixler Syndrome
  1172. Trimethylaminuria
  1173. Troyer Syndrome
  1174. Tuberculoid Leprosy versus Lepromatous Leprosy
  1175. Tuberous Sclerosis
  1176. Tumoral Calcinosis, Hyperphasphatemic
  1177. Tyrosinemia, Type I
  1178. Tyrosinemia, Type II
  1179. Tyrosinemia, Type III
  1180. Unna-Thost Disease
  1181. Urea Transport Defect JK-Null Variant
  1182. Usher Syndrome, Type 1B
  1183. Usher Syndrome, Type 1C
  1184. Usher Syndrome, Type 1D
  1185. Usher Syndrome, Type 1F
  1186. Usher Syndrome, Type 1G
  1187. Usher Syndrome, Type 2A
  1188. Usher Syndrome, Type 2C
  1189. Usher Syndrome, Type 3
  1190. UV-sensitive Syndrome
  1191. Vohwinkel Syndrome
  1192. Von Hippel-Lindau syndrome
  1193. Von Willebrand Disease, Type I
  1194. Von Willebrand Disease, Type IIB
  1195. Von Willebrand Disease, Type IIM
  1196. Von Willebrand Disease, Type III
  1197. Waardenburg Syndrome, Type IIA
  1198. Waardenburg Syndrome, Type III
  1199. Waardenburg Syndrome, Type IVA
  1200. Walker-Warburg Syndrome
  1201. Werner Syndrome
  1202. Werner Syndrome, Atypical
  1203. WHIM Syndrome
  1204. Wilson Disease
  1205. Wiskott-Aldrich Syndrome
  1206. Wiskott-Aldrich Syndrome, Attenuated
  1207. Wolff-Parkinson-White Syndrome, Hereditary
  1208. Wolman Disease
  1209. Xanthinuria, Type I
  1210. Xeroderma Pigmentosum, Complementation Group C
  1211. Xeroderma Pigmentosum, Complementation Group D
  1212. Xeroderma Pigmentosum, Complementation Group E
  1213. Xeroderma Pigmentosum, Complementation Group G
  1214. XRCC3 Deficiency
  1215. XY Sex Reversal with Adrenal Insufficiency
  1216. XY Sex Reversal without Adrenal Insufficiency
  1217. Zellweger Syndrome
  1218. Zellweger Syndrome, Complementation Group G