GeneReviews
0-9 | A-B | C-D | E-F | G-H | I-J | K-L | M-N | O-P | Q-R | S-T | U-V | W-X | Y-Z
- CADASIL
- Caffey Disease
- Calpainopathy
- Campomelic Dysplasia
- Camurati-Engelmann Disease
- Canavan Disease
- CARASIL
- Cardiofaciocutaneous Syndrome
- Carney Complex
- Carnitine Palmitoyltransferase IA Deficiency
- Carnitine Palmitoyltransferase II Deficiency
- Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders
- Catecholaminergic Polymorphic Ventricular Tachycardia
- CATSPER-Related Male Infertility
- Caveolinopathies
- CDC73-Related Disorders
- Celiac Disease
- Central Core Disease
- Cerebrotendinous Xanthomatosis
- CFTR-Related Disorders
- Char Syndrome
- Charcot-Marie-Tooth Neuropathy
- Charcot-Marie-Tooth Neuropathy Type 1
- Charcot-Marie-Tooth Neuropathy Type 2
- Charcot-Marie-Tooth Neuropathy Type 2A
- Charcot-Marie-Tooth Neuropathy Type 2E/1F
- Charcot-Marie-Tooth Neuropathy Type 4
- Charcot-Marie-Tooth Neuropathy Type 4A
- Charcot-Marie-Tooth Neuropathy Type 4C
- Charcot-Marie-Tooth Neuropathy X Type 1
- Charcot-Marie-Tooth Neuropathy X Type 5
- CHARGE Syndrome
- Chediak-Higashi Syndrome
- Cherubism
- Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
- Chondrodysplasia Punctata 1, X-Linked
- Chondrodysplasia Punctata 2, X-Linked
- Chorea-acanthocytosis
- Choroideremia
- Chronic Granulomatous Disease
- CHST3-Related Skeletal Dysplasia
- Citrin Deficiency
- Citrullinemia Type I
- CLCN7-Related Osteopetrosis
- Cleidocranial Dysplasia
- Cockayne Syndrome
- Coffin-Lowry Syndrome
- Coffin-Siris Syndrome
- Cohen Syndrome
- COL1A1/2-Related Osteogenesis Imperfecta
- COL4A1-Related Disorders
- Cold-Induced Sweating Syndrome including Crisponi Syndrome
- Collagen Type VI-Related Disorders
- Common Variable Immune Deficiency
- Congenital Cataracts, Facial Dysmorphism, and Neuropathy
- Congenital Central Hypoventilation Syndrome
- Congenital Contractural Arachnodactyly
- Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia
- Congenital Diaphragmatic Hernia
- Congenital Disorders of Glycosylation
- Congenital Dyserythropoietic Anemia Type I
- Congenital Fiber-Type Disproportion
- Congenital Fibrosis of the Extraocular Muscles
- Congenital Hepatic Fibrosis
- Congenital Muscular Dystrophy
- Congenital Myasthenic Syndromes
- Congenital Stationary Night Blindness, X-Linked
- Congenital Stromal Corneal Dystrophy
- Cornelia de Lange Syndrome
- Costello Syndrome
- Craniofacial Microsomia
- Craniometaphyseal Dysplasia, Autosomal Dominant
- Creatine Deficiency Syndromes
- CSF1R-Related Hereditary Diffuse Leukoencephalopathy with Spheroids
- Cystinosis
- Cytochrome P450 Oxidoreductase Deficiency
- DCX-Related Disorders
- Deafness-Dystonia-Optic Neuronopathy Syndrome
- Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
- Dent Disease
- DFNA 2 Nonsyndromic Hearing Loss
- DFNA 3 Nonsyndromic Hearing Loss and Deafness
- DFNB 1 Nonsyndromic Hearing Loss and Deafness
- DFNX1 (DFN2) Nonsyndromic Hearing Loss and Deafness
- DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form
- Diabetes Mellitus, 6q24-Related Transient Neonatal
- Diamond-Blackfan Anemia
- Diastrophic Dysplasia
- Dilated Cardiomyopathy
- Disorders of Intracellular Cobalamin Metabolism
- DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy
- DNMT1-Related Dementia, Deafness, and Sensory Neuropathy
- Donnai-Barrow Syndrome
- Dopamine Beta-Hydroxylase Deficiency
- DRPLA
- Duane Syndrome
- Dysferlinopathy
- Dyskeratosis Congenita
- Dystonia
- Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
- Dystrophic Epidermolysis Bullosa
- Dystrophinopathies