1. | Abetalipoproteinemia (1 recruiting study) |
2. | Abnormalities (318 recruiting studies) |
3. | Abnormalities, Multiple (14 recruiting studies) |
4. | Abnormalities, Radiation-Induced (1 recruiting study) |
5. | Adrenal Hyperplasia, Congenital (3 recruiting studies) |
6. | Adrenoleukodystrophy (3 recruiting studies) |
7. | Albinism (2 recruiting studies) |
8. | Alkaptonuria (1 recruiting study) |
9. | alpha-Mannosidosis (1 recruiting study) |
10. | Amino Acid Metabolism, Inborn Errors (1 recruiting study) |
11. | Anemia, Diamond-Blackfan (8 recruiting studies) |
12. | Anemia, Hemolytic, Congenital (26 recruiting studies) |
13. | Anemia, Hypoplastic, Congenital (8 recruiting studies) |
14. | Anemia, Sickle Cell (23 recruiting studies) |
15. | Anodontia (1 recruiting study) |
16. | Anophthalmos (1 recruiting study) |
17. | Arnold-Chiari Malformation (2 recruiting studies) |
18. | Arrhythmogenic Right Ventricular Dysplasia (1 recruiting study) |
19. | Arteriovenous Fistula (1 recruiting study) |
20. | Arteriovenous Malformations (2 recruiting studies) |
21. | Bardet-Biedl Syndrome (1 recruiting study) |
22. | beta-Thalassemia (6 recruiting studies) |
23. | Bifunctional Enzyme Deficiency (1 recruiting study) |
24. | Biliary Atresia (1 recruiting study) |
25. | Blood Coagulation Disorders, Inherited (6 recruiting studies) |
26. | Brain Diseases, Metabolic, Inborn (19 recruiting studies) |
27. | Bronchopulmonary Dysplasia (2 recruiting studies) |
28. | Cardiovascular Abnormalities (11 recruiting studies) |
29. | Caroli Disease (1 recruiting study) |
30. | Chorioamnionitis (1 recruiting study) |
31. | Chromosome Disorders (9 recruiting studies) |
32. | Cleft Lip (1 recruiting study) |
33. | Cleft Palate (2 recruiting studies) |
34. | Cockayne Syndrome (1 recruiting study) |
35. | Coloboma (1 recruiting study) |
36. | Colorectal Neoplasms, Hereditary Nonpolyposis (2 recruiting studies) |
37. | Congenital Cytomegalovirus (1 recruiting study) |
38. | Congenital Heart Block (2 recruiting studies) |
39. | Congenital, Hereditary, and Neonatal Diseases and Abnormalities (218 recruiting studies) |
40. | Conotruncal Cardiac Defects (1 recruiting study) |
41. | Craniofacial Abnormalities (5 recruiting studies) |
42. | Craniosynostoses (1 recruiting study) |
43. | Cystic Fibrosis (16 recruiting studies) |
44. | Cystinosis (3 recruiting studies) |
45. | DiGeorge Syndrome (2 recruiting studies) |
46. | Digestive System Abnormalities (2 recruiting studies) |
47. | Down Syndrome (2 recruiting studies) |
48. | Dyskeratosis Congenita (1 recruiting study) |
49. | Dysmorphic Syndromes (17 recruiting studies) |
50. | Eye Abnormalities (1 recruiting study) |
51. | Eye Diseases, Hereditary (5 recruiting studies) |
52. | Fabry Disease (5 recruiting studies) |
53. | Fanconi Anemia (6 recruiting studies) |
54. | Fanconi Syndrome (2 recruiting studies) |
55. | Favism (1 recruiting study) |
56. | Fetal Diseases (3 recruiting studies) |
57. | Fetal Growth Retardation (1 recruiting study) |
58. | Fragile X Syndrome (1 recruiting study) |
59. | Friedreich Ataxia (2 recruiting studies) |
60. | Fucosidosis (1 recruiting study) |
61. | Gangliosidoses (1 recruiting study) |
62. | Gangliosidosis GM1 (1 recruiting study) |
63. | Gaucher Disease (7 recruiting studies) |
64. | Genetic Diseases, Inborn (168 recruiting studies) |
65. | Genetic Diseases, X-Linked (24 recruiting studies) |
66. | Glucosephosphate Dehydrogenase Deficiency (1 recruiting study) |
67. | Glycogen Storage Disease (1 recruiting study) |
68. | Glycogen Storage Disease Type II (1 recruiting study) |
69. | Gonadal Dysgenesis (2 recruiting studies) |
70. | Gout (1 recruiting study) |
71. | Granulomatous Disease, Chronic (6 recruiting studies) |
72. | Hamartoma Syndrome, Multiple (1 recruiting study) |
73. | Heart Defects, Congenital (9 recruiting studies) |
74. | Heart Septal Defects (1 recruiting study) |
75. | Heart Septal Defects, Ventricular (1 recruiting study) |
76. | Hemochromatosis (2 recruiting studies) |
77. | Hemoglobin SC Disease (3 recruiting studies) |
78. | Hemoglobinopathies (24 recruiting studies) |
79. | Hemophilia A (1 recruiting study) |
80. | Hemophilia B (4 recruiting studies) |
81. | Hereditary Central Nervous System Demyelinating Diseases (2 recruiting studies) |
82. | Holoprosencephaly (1 recruiting study) |
83. | Huntington Disease (4 recruiting studies) |
84. | Hydrocephalus (1 recruiting study) |
85. | Hypercholesterolemia, Familial (2 recruiting studies) |
86. | Hyperhomocysteinemia (1 recruiting study) |
87. | Hyperlipidemia, Familial Combined (3 recruiting studies) |
88. | Hypolipoproteinemia (2 recruiting studies) |
89. | Hypoplastic Left Heart Syndrome (1 recruiting study) |
90. | Infant, Newborn, Diseases (219 recruiting studies) |
91. | Jaundice, Neonatal (1 recruiting study) |
92. | Jaw Abnormalities (2 recruiting studies) |
93. | Kallmann Syndrome (1 recruiting study) |
94. | Klinefelter Syndrome (1 recruiting study) |
95. | Kugelberg-Welander Syndrome (1 recruiting study) |
96. | Leukodystrophy, Globoid Cell (1 recruiting study) |
97. | Leukodystrophy, Metachromatic (1 recruiting study) |
98. | Leukomalacia, Periventricular (1 recruiting study) |
99. | Li-Fraumeni Syndrome (1 recruiting study) |
100. | Limb Deformities, Congenital (1 recruiting study) |
101. | Lipid Metabolism, Inborn Errors (1 recruiting study) |
102. | Lipoidosis (12 recruiting studies) |
103. | Lissencephaly (1 recruiting study) |
104. | Lysosomal Storage Diseases (19 recruiting studies) |
105. | Lysosomal Storage Diseases, Nervous System (13 recruiting studies) |
106. | Mannosidase Deficiency Diseases (1 recruiting study) |
107. | Maxillofacial Abnormalities (2 recruiting studies) |
108. | Meconium Aspiration (1 recruiting study) |
109. | MELAS Syndrome (1 recruiting study) |
110. | Meningomyelocele (1 recruiting study) |
111. | Menkes Kinky Hair Syndrome (1 recruiting study) |
112. | Mental Retardation, X-Linked (5 recruiting studies) |
113. | Metabolism, Inborn Errors (53 recruiting studies) |
114. | Methylmalonic Acidemia (1 recruiting study) |
115. | Microphthalmos (1 recruiting study) |
116. | Mouth Abnormalities (2 recruiting studies) |
117. | Mucolipidoses (1 recruiting study) |
118. | Mucopolysaccharidoses (3 recruiting studies) |
119. | Mucopolysaccharidosis I (2 recruiting studies) |
120. | Mucopolysaccharidosis IV (9 recruiting studies) |
121. | Mucopolysaccharidosis VI (2 recruiting studies) |
122. | Multiple Endocrine Neoplasia (2 recruiting studies) |
123. | Muscular Dystrophies (5 recruiting studies) |
124. | Muscular Dystrophy, Duchenne (2 recruiting studies) |
125. | Muscular Dystrophy, Facioscapulohumeral (1 recruiting study) |
126. | Musculoskeletal Abnormalities (6 recruiting studies) |
127. | Myelodysplasia (172 recruiting studies) |
128. | Myotonic Dystrophy (1 recruiting study) |
129. | Neoplastic Syndromes, Hereditary (19 recruiting studies) |
130. | Nephroblastoma (14 recruiting studies) |
131. | Nervous System Malformations (8 recruiting studies) |
132. | Neural Tube Defects (5 recruiting studies) |
133. | Neurocutaneous Syndromes (16 recruiting studies) |
134. | Neurofibromatoses (7 recruiting studies) |
135. | Neurofibromatosis 1 (4 recruiting studies) |
136. | Neurofibromatosis 2 (3 recruiting studies) |
137. | Neuronal Ceroid-Lipofuscinosis (1 recruiting study) |
138. | Niemann-Pick Diseases (1 recruiting study) |
139. | Opitz Syndrome (4 recruiting studies) |
140. | Osteogenesis Imperfecta (4 recruiting studies) |
141. | Pallister-Hall Syndrome (1 recruiting study) |
142. | Pentalogy of Cantrell (1 recruiting study) |
143. | Peroxisomal Disorders (3 recruiting studies) |
144. | Peutz-Jeghers Syndrome (1 recruiting study) |
145. | Polycystic Kidney Diseases (2 recruiting studies) |
146. | Polycystic Kidney, Autosomal Dominant (1 recruiting study) |
147. | Polycystic Kidney, Autosomal Recessive (1 recruiting study) |
148. | Polydactyly (2 recruiting studies) |
149. | Porencephaly (1 recruiting study) |
150. | Porphyria, Erythropoietic (1 recruiting study) |
151. | Prader-Willi Syndrome (1 recruiting study) |
152. | Proteus Syndrome (1 recruiting study) |
153. | Pseudohypoparathyroidism (1 recruiting study) |
154. | Pseudopseudohypoparathyroidism (1 recruiting study) |
155. | Purine-Pyrimidine Metabolism, Inborn Errors (1 recruiting study) |
156. | Refsum Disease (1 recruiting study) |
157. | Respiratory Distress Syndrome, Newborn (4 recruiting studies) |
158. | Retinitis Pigmentosa (2 recruiting studies) |
159. | Rett Syndrome (1 recruiting study) |
160. | Severe Combined Immunodeficiency (7 recruiting studies) |
161. | Sex Chromosome Disorders (3 recruiting studies) |
162. | Sex Differentiation Disorders (3 recruiting studies) |
163. | Shprintzen Syndrome (1 recruiting study) |
164. | Shwachman Syndrome (2 recruiting studies) |
165. | Sickle Cell Trait (1 recruiting study) |
166. | Sitosterolemia (1 recruiting study) |
167. | Skin Abnormalities (3 recruiting studies) |
168. | Skin Diseases, Genetic (4 recruiting studies) |
169. | Smith-Lemli-Opitz Syndrome (5 recruiting studies) |
170. | Smith-Magenis Syndrome (1 recruiting study) |
171. | Sphingolipidoses (14 recruiting studies) |
172. | Spinal Dysraphism (2 recruiting studies) |
173. | Spinocerebellar Degenerations (4 recruiting studies) |
174. | Stargardt's Disease (2 recruiting studies) |
175. | Stomatognathic System Abnormalities (3 recruiting studies) |
176. | Sturge-Weber Syndrome (16 recruiting studies) |
177. | Syndactyly (1 recruiting study) |
178. | Synostosis (2 recruiting studies) |
179. | Thalassemia (9 recruiting studies) |
180. | Tooth Abnormalities (1 recruiting study) |
181. | Tourette Syndrome (11 recruiting studies) |
182. | Transposition of Great Vessels (1 recruiting study) |
183. | Tuberous Sclerosis (3 recruiting studies) |
184. | Turner Syndrome (2 recruiting studies) |
185. | Tyrosinemias (1 recruiting study) |
186. | Urogenital Abnormalities (5 recruiting studies) |
187. | Wiskott-Aldrich Syndrome (3 recruiting studies) |
188. | Wolman Disease (1 recruiting study) |
189. | Xanthomatosis, Cerebrotendinous (2 recruiting studies) |
190. | Xeroderma Pigmentosum (2 recruiting studies) |
191. | Zellweger Syndrome (1 recruiting study) |