Description
Categories covered
| Adams-oliver Syndrome | Early-onset Familial Alzheimer Disease | Hereditary Nonpolyposis Colorectal Cancer | Sanfilippo Syndrome |
| Aicardi Goutieres Syndrome | Ectodermal Dysplasia Skin Fragility Syndrome | Hereditary Pancreatitis | Schwartz Jampel Syndrome |
| Alport Syndrome | Ehlers-danlos Syndrome | Hereditary Paraganglioma- Pheochromocytoma Syndromes | Seckel Syndrome |
| Alstrom Syndrome | Ellis-van Creveld Syndrome | Hereditary Prostate Cancer | Segawa Syndrome |
| Angelman Syndrome | Enhanced S-cone Syndrome | Hereditary Sensory And Autonomic Neuropathy | Senior-loken Syndrome |
| Anomalies And Disordered Steroidogenesis | Enlarged Vestibular Aqueduct Syndrome | Hermansky-pudlak Syndrome | Severe Congenital Neutropenia |
| Antenatal Bartter Syndrome | Exfoliation Syndrome | Histiocytosis-lymphadenopathy Plus Syndrome | Short Qt Syndrome |
| Antley-bixler Syndrome With Genital | Familial Adenomatous Polyposis | Holt-oram Syndrome | Short Rib Polydactyly Syndrome |
| Ataxia-telangiectasia Syndrome | Familial Atrial Fibrillation | Hurler Syndrome | Sick Sinus Syndrome |
| Atypical Hemolytic Uremic Syndrome | Familial Atypical Mycobacteriosis | Hutchinson-gilford Progeria Syndrome | Sjagren-larsson Syndrome |
| Atypical Rett Syndrome | Familial Breast-ovarian Cancer | Hyper-ige Syndrome | Skin Fragility Woolly Hair Syndrome |
| Autoimmune Lymphoproliferative Syndrome | Familial Cancer Of Breast | Hyperbilirubinemia Transient Familial Neonatal | Smith-lemli-opitz Syndrome |
| Autosomal Recessive Congenital Ichthyosis | Familial Candidiasis | Hyperphosphatasia With Intellectual Disability Syndrome | Sotos Syndrome |
| Autosomal Recessive Dejerine-sottas Syndrome | Familial Colorectal Cancer | Hyperphosphatemic Familial Tumoral Calcinosis | Spiegler-brooke Syndrome |
| Bardet-biedl Syndrome | Familial Dysautonomia | Hypoplastic Left Heart Syndrome | Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
| Benign Familial Neonatal Seizures | Familial Erythrocytosis | Idiopathic Hypereosinophilic Syndrome | Steroid-resistant Nephrotic Syndrome |
| Bernard Soulier Syndrome | Familial Erythrocytosis | Inborn Genetic Diseases | Stevens-johnson Syndrome And Toxic Epidermal Necrolysis (Sjs-ten) |
| Blau Syndrome | Familial Exudative Vitreoretinopathy | Infantile-onset Ascending Hereditary Spastic Paralysis | Stuve-wiedemann Syndrome |
| Bloom Syndrome | Familial Hemiplegic Migraine | Intellectual Disability Syndrome | Sudden Infant Death Syndrome |
| Brugada Syndrome | Familial Hemophagocytic Lymphohistiocytosis | Jervell And Lange-nielsen Syndrome | Symphalangism-brachydactyly Syndrome |
| Budd-chiari Syndrome | Familial Hemophagocytic Lymphohistiocytosis | Joubert Syndrome | Oligodontia-colorectal Cancer Syndrome |
| C Syndrome | Familial High Density Lipoprotein Deficiency | Kabuki Syndrome | Osler Hemorrhagic Telangiectasia Syndrome |
| Carbohydrate-deficient Glycoprotein Syndrome | Familial Hypercholanemia | Kaeser Type Neurogenic Scapuloperoneal Syndrome | Oto-palato-digital Syndrome |
| Cardio-facio-cutaneous Syndrome | Familial Hypercholesterolemia | Kartagener Syndrome | Ovarian Hyperstimulation Syndrome |
| Caudal Dysgenesis Syndrome | Familial Hyperlipidemia | Keratitis-ichthyosis-deafness Syndrome | Pachydermoperiostosis Syndrome |
| Cerebrooculofacioskeletal Syndrome | Familial Hypertrophic Cardiomyopathy | Kindler's Syndrome | Paroxysmal Familial Ventricular Fibrillation |
| Char Syndrome | Familial Hypobetalipoproteinemia | Klippel-feil Syndrome | Pendred's Syndrome |
| Cockayne Syndrome | Familial Hypobetalipoproteinemia | Knobloch Syndrome | Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum |
| Coffin-siris Syndrome | Familial Hypocalciuric Hypercalcemia | Larsen Syndrome | Perrault Syndrome |
| Cohen Syndrome | Familial Hypoparathyroidism | Leber Congenital Amaurosis | Perry Syndrome |
| Congenital Adrenal Insufficiency | Familial Hypoplastic, Glomerulocystic Kidney | Leigh Syndrome | Peters Plus Syndrome |
| Congenital Afibrinogenemia | Familial Intrahepatic Cholestasis | Leprechaunism Syndrome | Pfeiffer Syndrome |
| Congenital Amegakaryocytic Thrombocytopenia | Familial Mediterranean Fever | Li-fraumeni Syndrome | Pineal Hyperplasia And Diabetes Mellitus Syndrome |
| Congenital Bilateral Absence Of The Vas Deferens | Familial Medullary Thyroid Carcinoma | Li-fraumeni-like Syndrome | Pitt-hopkins-like Syndrome |
| Congenital Bile Acid Synthesis Defect | Familial Multiple Polyposis Syndrome | Lig Syndrome | Polycystic Ovary Syndrome |
| Congenital Cataract | Familial Partial Lipodystrophy | Loeys-dietz Syndrome | Polyglandular Autoimmune Syndrome |
| Congenital Central Hypoventilation | Familial Periodic Fever | Long Qt Syndrome | Popliteal Pterygium Syndrome |
| Congenital Contractural Arachnodactyly | Familial Renal Hypouricemia | Lucey-driscoll Syndrome | Primary Congenital Glaucoma |
| Congenital Disorder Of Glycosylation | Familial Restrictive Cardiomyopathy | Lymphoproliferative Syndrome | Primary Familial Hypertrophic Cardiomyopathy |
| Congenital Distal Spinal Muscular Atrophy | Familial Temporal Epilepsy | Lynch Syndrome | Progressive Familial Intrahepatic Cholestasis |
| Congenital Glaucoma | Familial Type Hyperlipoproteinemia | Marfan Syndrome | Restless Legs Syndrome |
| Congenital Heart Disease | Familial Visceral Amyloidosis | Marles Greenberg Persaud Syndrome | Retinitis Pigmentosa-deafness Syndrome |
| Congenital Heart Malformation | Fanconi-bickel Syndrome | Marshall Syndrome | Romano-ward Syndrome |
| Congenital Hypothyroidism | Fatal Familial Insomnia | Mass Syndrome | Rotor Syndrome |
| Congenital Hypothyroidism | Finnish Congenital Nephrotic Syndrome | Mcleod Neuroacanthocytosis Syndrome | Rubinstein-taybi Syndrome |
| Congenital Ichthyosiform Erythroderma | Foveal Hypoplasia And Presenile Cataract Syndrome | Meckel Syndrome | Three M Syndrome |
| Congenital Intrinsic Factor Deficiency | Gerstmann-straussler-scheinker Syndrome | Meckel-gruber Syndrome | Tourette Syndrome |
| Congenital Lactase Deficiency | Gilbert's Syndrome | Meier-gorlin Syndrome | Treacher Collins Syndrome |
| Congenital Left-sided Heart Lesions | Goldmann-favre Syndrome | Melanoma-pancreatic Cancer Syndrome | Trichoepithelioma Multiple Familial |
| Congenital Long Qt Syndrome | Gonadotropin-independent Familial Sexual Precocity | Melnick-needles Syndrome | Trichohepatoenteric Syndrome |
| Congenital Muscular Dystrophy | Gorlin Syndrome | Menkes Kinky-hair Syndrome | Trichorhinophalangeal Syndrome |
| Congenital Muscular Dystrophy-dystroglycanopathy | Hecht Syndrome | Metabolic Syndrome | Tuberous Sclerosis Syndrome |
| Congenital Myasthenic Syndrome | Hennekam Lymphangiectasia-lymphedema Syndrome | Mitochondrial Dna Depletion Syndrome | Turcot Syndrome |
| Congenital Myasthenic Syndrome | Hereditary Angioedema | Mlh-related Lynch Syndrome | Upshaw-schulman Syndrome |
| Congenital Neuromuscular Disease | Hereditary Angiopathy | Morquio Syndrome | Usher Syndrome |
| Congenital Secretory Diarrhea | Hereditary Breast And Ovarian Cancer Syndrome | Mosaic Variegated Aneuploidy Syndrome | Van Der Woude Syndrome |
| Congenital Sensory Neuropathy | Hereditary Cancer-predisposing Syndrome | Muir-torrao Syndrome | Von Hippel-lindau Syndrome |
| Congenital Stationary Night Blindness | Hereditary Colorectal Cancer | Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, And Congenital Heart Defects | Wagner Syndrome |
| Cornelia De Lange Syndrome | Hereditary Coproporphyria | Multiple Pterygium Syndrome Escobar Type | Walker-warburg Congenital Muscular Dystrophy |
| Cortical Dysplasia-focal Epilepsy Syndrome | Hereditary Cutaneous Melanoma | Muscular Dystrophy-dystroglycanopathy | Walker-warburg Syndrome |
| Cowden Syndrome | Hereditary Diffuse Gastric Cancer | Myelodysplastic Syndrome | Warburg Micro Syndrome |
| Crigler-najjar Syndrome | Hereditary Diffuse Leukoencephalopathy | Nail-patella Syndrome | Weaver Syndrome |
| Cryptophthalmos Syndrome | Hereditary Essential Tremor | Nakajo Syndrome | Weill-marchesani Syndrome |
| Curry-hall Syndrome | Hereditary Factor Ii Deficiency Disease | Nephrotic Syndrome | Weissenbacher-zweymuller Syndrome |
| Cylindromatosis, Familial | Hereditary Factor Xi Deficiency Disease | Neuropathy Hereditary Sensory And Autonomic | Werner Syndrome |
| Cystic Fibrosis-like Syndrome | Hereditary Fructosuria | Nicolaides-baraitser Syndrome | Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
| Dengue Shock Syndrome | Hereditary Keratitis | Noonan Syndrome | Yao Syndrome |
| Down Syndrome | Hereditary Myopathy With Early Respiratory Failure | Noonan-like Syndrome Disorder | Zellweger Syndrome |
| Dubin-johnson Syndrome | Hereditary Neuralgic Amyotrophy (Hna) | Obstetric Antiphospholipid Syndrome |