Conditions by Category > Diseases and Abnormalities at or Before Birth
- Abetalipoproteinemia (4)
- Abnormalities, Drug-Induced (3)
- Abnormalities, Multiple (1,081)
- Abnormalities, Radiation-Induced (4)
- Achondroplasia (34)
- Acidosis, Renal Tubular (9)
- Acrocephalosyndactylia (3)
- Acrodermatitis (5)
- Activated Protein C Resistance (2)
- Acute Chest Syndrome (34)
- Adenomatous Polyposis Coli (80)
- Adrenal Hyperplasia, Congenital (143)
- Adrenogenital Syndrome (143)
- Adrenoleukodystrophy (64)
- Afibrinogenemia (17)
- Agenesis of Corpus Callosum (17)
- Aicardi Syndrome (2)
- Alagille Syndrome (22)
- Albinism (38)
- Albinism, Ocular (4)
- Albinism, Oculocutaneous (14)
- Alexander Disease (4)
- Alkaptonuria (9)
- Alpha 1-Antitrypsin Deficiency (137)
- Alstrom Syndrome (6)
- Amelogenesis Imperfecta (7)
- Amino Acid Metabolism, Inborn Errors (335)
- Amniotic Band Syndrome (2)
- Amyloid Neuropathies, Familial (45)
- Amyloidosis, Familial (77)
- Andersen Syndrome (3)
- Androgen-Insensitivity Syndrome (2)
- Anemia, Diamond-Blackfan (59)
- Anemia, Dyserythropoietic, Congenital (6)
- Anemia, Hemolytic, Congenital (1,244)
- Anemia, Hemolytic, Congenital Nonspherocytic (13)
- Anemia, Hypoplastic, Congenital (114)
- Anemia, Neonatal (35)
- Anemia, Sickle Cell (956)
- Anencephaly (9)
- Angelman Syndrome (37)
- Angioedemas, Hereditary (148)
- Aniridia (18)
- Anodontia (65)
- Anomalous Left Coronary Artery (1)
- Anophthalmos (7)
- Anorectal Malformations (23)
- Antithrombin III Deficiency (14)
- Aortic Coarctation (40)
- Arachnodactyly (54)
- Arachnoid Cysts (1)
- Argininosuccinic Aciduria (9)
- Arnold-Chiari Malformation (25)
- Arrhythmogenic Right Ventricular Dysplasia (33)
- Arteriovenous Fistula (267)
- Arteriovenous Malformations (301)
- Arthritis, Gouty (42)
- Arthrogryposis (86)
- Aspartylglucosaminuria (5)
- Asphyxia Neonatorum (97)
- Ataxia Telangiectasia (46)
- Autoimmune Lymphoproliferative Syndrome (12)
- Autosomal Emery-Dreifuss Muscular Dystrophy (1)
- Bardet-Biedl Syndrome (14)
- Barth Syndrome (8)
- Basal Cell Nevus Syndrome (37)
- Beckwith-Wiedemann Syndrome (9)
- Behcet Syndrome (97)
- Bicuspid Aortic Valve Disease (52)
- Biliary Atresia (52)
- Biotinidase Deficiency (5)
- Birt-Hogg-Dube Syndrome (7)
- Birth Injuries (38)
- Bladder Exstrophy (13)
- Blood Coagulation Disorders, Inherited (939)
- Bloom Syndrome (1)
- Brachydactyly (2)
- Brain Diseases, Metabolic, Inborn (1,010)
- Bronchomalacia (15)
- Bronchopulmonary Dysplasia (290)
- Brugada Syndrome (46)
- Bulbo-Spinal Atrophy, X-Linked (20)
- CADASIL (28)
- CHARGE Syndrome (2)
- Canavan Disease (10)
- Carbamoyl-Phosphate Synthase I Deficiency Disease (9)
- Carbohydrate Metabolism, Inborn Errors (601)
- Cardiomyopathy, Dilated (224)
- Cardiomyopathy, Hypertrophic, Familial (8)
- Cardiovascular Abnormalities (2,151)
- Carney Complex (4)
- Caroli Disease (3)
- Carotid-Cavernous Sinus Fistula (1)
- Central Nervous System Cysts (3)
- Central Nervous System Vascular Malformations (58)
- Cerebral Amyloid Angiopathy, Familial (27)
- Charcot-Marie-Tooth Disease (570)
- Chediak-Higashi Syndrome (14)
- Cherubism (2)
- Choanal Atresia (1)
- Choledochal Cyst (10)
- Cholesterol Ester Storage Disease (33)
- Chondrodysplasia Punctata, Rhizomelic (3)
- Chorioamnionitis (35)
- Choroideremia (26)
- Chromosome Disorders (781)
- Ciliary Motility Disorders (59)
- Ciliopathies (277)
- Citrullinemia (12)
- Classical Lissencephalies and Subcortical Band Heterotopias (1)
- Cleft Lip (124)
- Cleft Palate (117)
- Cleidocranial Dysplasia (1)
- Clubfoot (139)
- Cockayne Syndrome (10)
- Coffin-Lowry Syndrome (1)
- Colic (194)
- Coloboma (10)
- Colorectal Neoplasms, Hereditary Nonpolyposis (93)
- Cone-Rod Dystrophies (19)
- Congenital Abnormalities (7,753)
- Congenital Bone Marrow Failure Syndromes (130)
- Congenital Disorders of Glycosylation (15)
- Congenital Hyperinsulinism (50)
- Congenital Hypothyroidism (16)
- Congenital Microtia (18)
- Congenitally Corrected Transposition of the Great Arteries (3)
- Coproporphyria, Hereditary (13)
- Corneal Dystrophies, Hereditary (109)
- Coronary Vessel Anomalies (26)
- Costello Syndrome (5)
- Craniofacial Abnormalities (403)
- Craniofacial Dysostosis (25)
- Craniosynostoses (38)
- Cri-du-Chat Syndrome (1)
- Crigler-Najjar Syndrome (13)
- Cryopyrin-Associated Periodic Syndromes (32)
- Cryptorchidism (30)
- Cutis Laxa (109)
- Cystic Adenomatoid Malformation of Lung, Congenital (5)
- Cystic Fibrosis (1,428)
- Cystinosis (35)
- Cystinuria (23)
- Darier Disease (10)
- De Lange Syndrome (5)
- Deaf-Blind Disorders (38)
- Dent Disease (10)
- Dental Enamel Hypoplasia (60)
- Dentinogenesis Imperfecta (2)
- Dentofacial Deformities (25)
- Denys-Drash Syndrome (2)
- Dermatitis, Atopic (1,152)
- Developmental Dysplasia of the Hip (136)
- Dextrocardia (36)
- DiGeorge Syndrome (49)
- Diaphragmatic Eventration (3)
- Diastema (4)
- Digestive System Abnormalities (170)
- Dihydropyrimidine Dehydrogenase Deficiency (1)
- Disorder of Sex Development, 46,XY (24)
- Disorders of Sex Development (295)
- Distal Myopathies (16)
- Double Outlet Right Ventricle (6)
- Down Syndrome (310)
- Duane Retraction Syndrome (1)
- Ductus Arteriosus, Patent (135)
- Dwarfism (325)
- Dysautonomia, Familial (12)
- Dyskeratosis Congenita (16)
- Dysplastic Nevus Syndrome (19)
- Dystonia Musculorum Deformans (1)
- Ebstein Anomaly (4)
- Ectodermal Dysplasia (41)
- Ectodermal Dysplasia 1, Anhidrotic (21)
- Ectopia Lentis (6)
- Ehlers-Danlos Syndrome (63)
- Eisenmenger Complex (24)
- Elliptocytosis, Hereditary (1)
- Ellis-Van Creveld Syndrome (1)
- Encephalocele (3)
- Endocardial Cushion Defects (9)
- Epidermolysis Bullosa (121)
- Epidermolysis Bullosa Acquisita (2)
- Epidermolysis Bullosa Dystrophica (62)
- Epidermolysis Bullosa Simplex (17)
- Epidermolysis Bullosa, Junctional (12)
- Epilepsy, Benign Neonatal (1)
- Epispadias (8)
- Equinus Deformity (139)
- Erythroblastosis, Fetal (27)
- Esophageal Atresia (32)
- Exostoses, Multiple Hereditary (13)
- Eye Abnormalities (87)
- Eye Diseases, Hereditary (813)
- Fabry Disease (203)
- Factor V Deficiency (1)
- Factor VII Deficiency (7)
- Factor X Deficiency (4)
- Factor XI Deficiency (3)
- Factor XII Deficiency (1)
- Factor XIII Deficiency (12)
- Familial Exudative Vitreoretinopathies (2)
- Familial Hypophosphatemic Rickets (59)
- Familial Mediterranean Fever (166)
- Familial Multiple Lipomatosis (1)
- Fanconi Anemia (99)
- Fanconi Syndrome (108)
- Farber Lipogranulomatosis (2)
- Favism (1)
- Fetal Alcohol Spectrum Disorders (54)
- Fetal Diseases (372)
- Fetal Growth Retardation (249)
- Fetal Hypoxia (20)
- Fetal Macrosomia (23)
- Fetofetal Transfusion (23)
- Fetomaternal Transfusion (4)
- Flatfoot (88)
- Focal Dermal Hypoplasia (5)
- Foot Deformities, Congenital (328)
- Foramen Ovale, Patent (111)
- Fragile X Syndrome (90)
- Fraser Syndrome (1)
- Frasier Syndrome (2)
- Friedreich Ataxia (82)
- Fructose Intolerance (12)
- Fructose Metabolism, Inborn Errors (12)
- Fructose-1,6-Diphosphatase Deficiency (1)
- Fuchs' Endothelial Dystrophy (74)
- Fucosidosis (9)
- Funnel Chest (60)
- Fused Kidney (1)
- GATA2 Deficiency (9)
- Galactosemias (12)
- Gangliosidoses (38)
- Gangliosidoses, GM2 (25)
- Gangliosidosis, GM1 (18)
- Gardner Syndrome (1)
- Gastroschisis (41)
- Gaucher Disease (145)
- Genetic Diseases, Inborn (12,882)
- Genetic Diseases, X-Linked (1,310)
- Giant Axonal Neuropathy (2)
- Gilbert Disease (2)
- Gitelman Syndrome (5)
- Glucosephosphate Dehydrogenase Deficiency (49)
- Glycogen Storage Disease (190)
- Glycogen Storage Disease Type I (14)
- Glycogen Storage Disease Type II (146)
- Glycogen Storage Disease Type III (9)
- Glycogen Storage Disease Type IIb (3)
- Glycogen Storage Disease Type IV (4)
- Glycogen Storage Disease Type V (16)
- Glycogen Storage Disease Type VI (3)
- Glycogen Storage Disease Type VII (4)
- Glycogen Storage Disease Type VIII (1)
- Glycosuria, Renal (3)
- Goldenhar Syndrome (10)
- Gonadal Dysgenesis (105)
- Gout (311)
- Granulomatous Disease, Chronic (73)
- Graves Ophthalmopathy (119)
- Gray Platelet Syndrome (2)
- Gyrate Atrophy (6)
- Hamartoma Syndrome, Multiple (21)
- Hand Deformities, Congenital (4)
- Heart Defects, Congenital (1,734)
- Heart Septal Defects (198)
- Heart Septal Defects, Atrial (142)
- Heart Septal Defects, Ventricular (56)
- Hemangioma, Cavernous, Central Nervous System (14)
- Hemimegalencephaly (2)
- Hemochromatosis (82)
- Hemoglobin C Disease (7)
- Hemoglobin SC Disease (32)
- Hemoglobinopathies (1,245)
- Hemophilia A (764)
- Hemophilia B (236)
- Hepatolenticular Degeneration (53)
- Hereditary Autoinflammatory Diseases (166)
- Hereditary Breast and Ovarian Cancer Syndrome (61)
- Hereditary Central Nervous System Demyelinating Diseases (102)
- Hereditary Complement Deficiency Diseases (134)
- Hereditary Sensory and Autonomic Neuropathies (15)
- Hereditary Sensory and Motor Neuropathy (570)
- Heredodegenerative Disorders, Nervous System (1,625)
- Hermanski-Pudlak Syndrome (10)
- Hernia, Umbilical (54)
- Hernias, Diaphragmatic, Congenital (81)
- Heterotaxy Syndrome (6)
- Hip Dislocation, Congenital (136)
- Hirschsprung Disease (51)
- Holocarboxylase Synthetase Deficiency (4)
- Holoprosencephaly (5)
- Homocystinuria (14)
- Huntington Disease (236)
- Hyaline Membrane Disease (52)
- Hyalinosis, Systemic (1)
- Hydranencephaly (1)
- Hydrophthalmos (24)
- Hydrops Fetalis (10)
- Hyper-IgM Immunodeficiency Syndrome (18)
- Hyper-IgM Immunodeficiency Syndrome, Type 1 (13)
- Hyperandrogenism (86)
- Hyperargininemia (9)
- Hyperbilirubinemia, Neonatal (109)
- Hyperglycinemia, Nonketotic (2)
- Hyperhomocysteinemia (48)
- Hyperkeratosis, Epidermolytic (3)
- Hyperlipidemia, Familial Combined (43)
- Hyperlipoproteinemia Type I (26)
- Hyperlipoproteinemia Type II (214)
- Hyperlipoproteinemia Type III (7)
- Hyperlipoproteinemia Type IV (8)
- Hyperlipoproteinemia Type V (12)
- Hyperoxaluria, Primary (42)
- Hypertelorism (13)
- Hypoalphalipoproteinemias (16)
- Hypobetalipoproteinemias (15)
- Hypokalemic Periodic Paralysis (3)
- Hypolipoproteinemias (28)
- Hypophosphatasia (35)
- Hypophosphatemia, Familial (55)
- Hypoplastic Left Heart Syndrome (62)
- Hypoprothrombinemias (1)
- Hypospadias (96)
- Ichthyosiform Erythroderma, Congenital (41)
- Ichthyosis (66)
- Ichthyosis Vulgaris (5)
- Ichthyosis, Lamellar (26)
- Ichthyosis, X-Linked (77)
- Incontinentia Pigmenti (1)
- Infant, Newborn, Diseases (4,048)
- Infant, Premature, Diseases (1,640)
- Intestinal Atresia (10)
- Intracranial Arteriovenous Malformations (37)
- Isolated Noncompaction of the Ventricular Myocardium (1)
- Jacobsen Distal 11q Deletion Syndrome (1)
- Jaundice, Neonatal (77)
- Jaw Abnormalities (183)
- Jervell-Lange Nielsen Syndrome (3)
- Job Syndrome (13)
- Kallmann Syndrome (22)
- Kartagener Syndrome (20)
- Keratoderma, Palmoplantar (4)
- Keratoderma, Palmoplantar, Diffuse (1)
- Kernicterus (8)
- Klinefelter Syndrome (37)
- Klippel-Feil Syndrome (4)
- LEOPARD Syndrome (2)
- Lactose Intolerance (45)
- Lafora Disease (2)
- Laminopathies (234)
- Laron Syndrome (2)
- Laryngomalacia (11)
- Laryngostenosis (8)
- Laurence-Moon Syndrome (14)
- Lecithin Cholesterol Acyltransferase Deficiency (4)
- Leigh Disease (17)
- Lennox Gastaut Syndrome (55)
- Lesch-Nyhan Syndrome (5)
- Leukocyte-Adhesion Deficiency Syndrome (8)
- Leukodystrophy, Globoid Cell (27)
- Leukodystrophy, Metachromatic (44)
- Leukomalacia, Periventricular (33)
- Li-Fraumeni Syndrome (17)
- Liddle Syndrome (1)
- Limb Deformities, Congenital (242)
- Lipid Metabolism, Inborn Errors (872)
- Lipidoses (527)
- Lipodystrophy, Congenital Generalized (11)
- Lipodystrophy, Familial Partial (13)
- Lissencephaly (4)
- Loeys-Dietz Syndrome (8)
- Long QT Syndrome (97)
- Lower Extremity Deformities, Congenital (163)
- Lymphangiectasis, Intestinal (1)
- Lymphatic Abnormalities (71)
- Lynch Syndrome II (2)
- Lysosomal Storage Diseases (858)
- MELAS Syndrome (20)
- MERRF Syndrome (2)
- Machado-Joseph Disease (36)
- Malformations of Cortical Development (116)
- Malformations of Cortical Development, Group II (6)
- Mandibulofacial Dysostosis (12)
- Mannosidase Deficiency Diseases (26)
- Maple Syrup Urine Disease (8)
- Marfan Syndrome (59)
- Maxillofacial Abnormalities (212)
- May-Thurner Syndrome (17)
- Meckel Diverticulum (1)
- Meconium Aspiration Syndrome (20)
- Median Arcuate Ligament Syndrome (1)
- Megalencephaly (7)
- Meningocele (6)
- Meningomyelocele (50)
- Menkes Kinky Hair Syndrome (7)
- Mental Retardation, X-Linked (292)
- Metabolism, Inborn Errors (2,557)
- Metal Metabolism, Inborn Errors (233)
- Mevalonate Kinase Deficiency (4)
- Microcephaly (24)
- Micrognathism (30)
- Microphthalmos (8)
- Microstomia (4)
- Mineralocorticoid Excess Syndrome, Apparent (3)
- Mobius Syndrome (4)
- Mouth Abnormalities (204)
- Mucolipidoses (13)
- Mucopolysaccharidoses (215)
- Mucopolysaccharidosis I (68)
- Mucopolysaccharidosis II (73)
- Mucopolysaccharidosis III (45)
- Mucopolysaccharidosis IV (233)
- Mucopolysaccharidosis VI (34)
- Mucopolysaccharidosis VII (16)
- Muir-Torre Syndrome (5)
- Multicystic Dysplastic Kidney (9)
- Multiple Acyl Coenzyme A Dehydrogenase Deficiency (5)
- Multiple Carboxylase Deficiency (4)
- Multiple Endocrine Neoplasia (40)
- Multiple Endocrine Neoplasia Type 1 (20)
- Multiple Endocrine Neoplasia Type 2a (10)
- Multiple Endocrine Neoplasia Type 2b (6)
- Multiple Sulfatase Deficiency Disease (1)
- Muscular Dystrophies (628)
- Muscular Dystrophies, Limb-Girdle (50)
- Muscular Dystrophy, Duchenne (368)
- Muscular Dystrophy, Emery-Dreifuss (3)
- Muscular Dystrophy, Facioscapulohumeral (53)
- Muscular Dystrophy, Oculopharyngeal (12)
- Musculoskeletal Abnormalities (963)
- Myasthenic Syndromes, Congenital (13)
- Myocardial Bridging (7)
- Myotonia Congenita (7)
- Myotonic Dystrophy (78)
- Nail-Patella Syndrome (1)
- Neonatal Abstinence Syndrome (68)
- Neonatal Brachial Plexus Palsy (12)
- Neonatal Sepsis (154)
- Neoplastic Syndromes, Hereditary (751)
- Nephritis, Hereditary (23)
- Nervous System Malformations (517)
- Nesidioblastosis (50)
- Netherton Syndrome (15)
- Neural Tube Defects (177)
- Neuroacanthocytosis (1)
- Neurocutaneous Syndromes (387)
- Neurofibromatoses (296)
- Neurofibromatosis 1 (251)
- Neurofibromatosis 2 (55)
- Neuronal Ceroid-Lipofuscinoses (45)
- Nevus, Sebaceous of Jadassohn (5)
- Niemann-Pick Disease, Type A (58)
- Niemann-Pick Disease, Type B (1)
- Niemann-Pick Disease, Type C (58)
- Niemann-Pick Diseases (58)
- Noonan Syndrome (23)
- Nuchal Cord (2)
- Nystagmus, Congenital (3)
- Oculocerebrorenal Syndrome (6)
- Olivopontocerebellar Atrophies (3)
- Ophthalmia Neonatorum (2)
- Optic Atrophies, Hereditary (46)
- Optic Atrophy, Autosomal Dominant (5)
- Optic Atrophy, Hereditary, Leber (37)
- Optic Nerve Hypoplasia (4)
- Ornithine Carbamoyltransferase Deficiency Disease (28)
- Orofaciodigital Syndromes (3)
- Osteoarthropathy, Primary Hypertrophic (2)
- Osteochondrodysplasias (238)
- Osteogenesis Imperfecta (66)
- POEMS Syndrome (10)
- Pachyonychia Congenita (11)
- Pain Insensitivity, Congenital (4)
- Pallister-Hall Syndrome (1)
- Pantothenate Kinase-Associated Neurodegeneration (13)
- Papillon-Lefevre Disease (1)
- Paralysis, Hyperkalemic Periodic (4)
- Paralysis, Obstetric (2)
- Pectus Carinatum (15)
- Pelizaeus-Merzbacher Disease (7)
- Pemphigus, Benign Familial (4)
- Pentalogy of Cantrell (3)
- Periventricular Nodular Heterotopia (2)
- Peroxisomal Disorders (69)
- Persistent Fetal Circulation Syndrome (36)
- Persistent Hyperplastic Primary Vitreous (1)
- Peutz-Jeghers Syndrome (18)
- Phenylketonuria, Maternal (4)
- Phenylketonurias (143)
- Piebaldism (5)
- Pierre Robin Syndrome (9)
- Plagiocephaly (19)
- Plagiocephaly, Nonsynostotic (13)
- Platybasia (2)
- Polycystic Kidney Diseases (165)
- Polycystic Kidney, Autosomal Dominant (139)
- Polycystic Kidney, Autosomal Recessive (5)
- Polydactyly (6)
- Polymicrogyria (5)
- Porencephaly (3)
- Porokeratosis (2)
- Porphyria Cutanea Tarda (50)
- Porphyria, Acute Intermittent (20)
- Porphyria, Erythropoietic (59)
- Porphyria, Variegate (8)
- Porphyrias, Hepatic (51)
- Port-Wine Stain (86)
- Prader-Willi Syndrome (120)
- Primary Immunodeficiency Diseases (472)
- Progeria (9)
- Prognathism (41)
- Prolidase Deficiency (1)
- Propionic Acidemia (22)
- Protein C Deficiency (5)
- Proteus Syndrome (7)
- Protoporphyria, Erythropoietic (22)
- Pseudohypoaldosteronism (7)
- Pseudohypoparathyroidism (17)
- Pseudopseudohypoparathyroidism (17)
- Pseudoxanthoma Elasticum (25)
- Pulmonary Atresia (9)
- Purine-Pyrimidine Metabolism, Inborn Errors (194)
- Pyelectasis (1)
- Pyruvate Carboxylase Deficiency Disease (1)
- Pyruvate Dehydrogenase Complex Deficiency Disease (5)
- Pyruvate Metabolism, Inborn Errors (32)
- Refsum Disease (8)
- Refsum Disease, Infantile (4)
- Renal Tubular Transport, Inborn Errors (177)
- Respiratory Distress Syndrome, Newborn (1,523)
- Respiratory System Abnormalities (43)
- Retinitis Pigmentosa (252)
- Retinopathy of Prematurity (151)
- Retrognathia (22)
- Rett Syndrome (73)
- Romano-Ward Syndrome (4)
- Rothmund-Thomson Syndrome (2)
- Rubella Syndrome, Congenital (2)
- Rubinstein-Taybi Syndrome (4)
- Sandhoff Disease (21)
- Sarcoglycanopathies (6)
- Scimitar Syndrome (5)
- Septo-Optic Dysplasia (3)
- Severe Combined Immunodeficiency (82)
- Sex Chromosome Disorders (210)
- Sialic Acid Storage Disease (1)
- Sickle Cell Trait (48)
- Silver-Russell Syndrome (4)
- Single Umbilical Artery (1)
- Situs Inversus (42)
- Sjogren-Larsson Syndrome (4)
- Skin Abnormalities (430)
- Skin Diseases, Genetic (1,676)
- Smith-Lemli-Opitz Syndrome (17)
- Smith-Magenis Syndrome (15)
- Sotos Syndrome (2)
- Spastic Paraplegia, Hereditary (28)
- Spherocytosis, Hereditary (5)
- Sphingolipidoses (447)
- Spina Bifida Cystica (50)
- Spina Bifida Occulta (3)
- Spinal Dysraphism (181)
- Spinal Muscular Atrophies of Childhood (27)
- Spinocerebellar Ataxias (207)
- Spinocerebellar Degenerations (207)
- Stargardt Disease (42)
- Steroid Metabolism, Inborn Errors (98)
- Stomatognathic System Abnormalities (438)
- Sulfatidosis (36)
- Syndactyly (8)
- Synostosis (44)
- Syphilis, Congenital (5)
- Talipes (139)
- Talipes Cavus (9)
- Tangier Disease (5)
- Tarsal Coalition (2)
- Tay-Sachs Disease (27)
- Tay-Sachs Disease, AB Variant (3)
- Telangiectasia, Hereditary Hemorrhagic (83)
- Tetralogy of Fallot (78)
- Thalassemia (436)
- Thrombasthenia (69)
- Thrombocytopenia, Neonatal Alloimmune (12)
- Thyroid Dysgenesis (2)
- Tooth Abnormalities (130)
- Tooth, Supernumerary (2)
- Tourette Syndrome (209)
- Toxoplasmosis, Congenital (7)
- Tracheobronchomalacia (15)
- Tracheobronchomegaly (1)
- Tracheomalacia (5)
- Transient Tachypnea of the Newborn (33)
- Transposition of Great Vessels (50)
- Trichothiodystrophy Syndromes (2)
- Tricuspid Atresia (10)
- Trisomy 13 Syndrome (22)
- Trisomy 18 Syndrome (24)
- Truncus Arteriosus, Persistent (6)
- Tuberous Sclerosis (96)
- Turner Syndrome (105)
- Twins, Conjoined (1)
- Tyrosinemias (16)
- Univentricular Heart (112)
- Unverricht-Lundborg Syndrome (5)
- Upper Extremity Deformities, Congenital (10)
- Urea Cycle Disorders, Inborn (74)
- Urogenital Abnormalities (460)
- Usher Syndromes (28)
- Vascular Malformations (465)
- Vascular Ring (2)
- Vein of Galen Malformations (2)
- Velopharyngeal Insufficiency (16)
- Vitelliform Macular Dystrophy (8)
- Von Hippel-Lindau Disease (45)
- Von Willebrand Disease, Type 1 (4)
- Von Willebrand Disease, Type 2 (3)
- Von Willebrand Disease, Type 3 (4)
- Von Willebrand Diseases (87)
- WAGR Syndrome (2)
- Waardenburg Syndrome (1)
- Walker-Warburg Syndrome (2)
- Werner Syndrome (3)
- Williams Syndrome (21)
- Wilms Tumor (240)
- Wiskott-Aldrich Syndrome (40)
- Wolf-Hirschhorn Syndrome (1)
- Wolff-Parkinson-White Syndrome (6)
- Wolfram Syndrome (11)
- Wolman Disease (34)
- X-Linked Combined Immunodeficiency Diseases (15)
- X-Linked Emery-Dreifuss Muscular Dystrophy (1)
- Xanthomatosis, Cerebrotendinous (11)
- Xeroderma Pigmentosum (14)
- Zellweger Syndrome (6)
- alpha-Mannosidosis (26)
- alpha-Thalassemia (24)
- beta-Mannosidosis (1)
- beta-Thalassemia (269)
- 22q11 Deletion Syndrome (46)
- 46, XX Disorders of Sex Development (61)