Dandy-Walker Syndrome is a rare congenital brain malformation.
Danon disease is a rare lysosomal storage disorder characterized by an X-linked dominant inheritance pattern.
Darier disease, also known as keratosis follicularis, is a rare genetic disorder of the skin. It is characterized by skin lesions that consist of thickened, scaly bumps which can be yellow or br...
Degos Disease is a rare disorder that affects the lining of the veins and arteries.
Dent disease is a rare X-linked recessive, chronic kidney condition found almost exclusively in males. The severity of the disease and the specific symptoms can vary. Females, who can be carrier...
Dentatorubral Pallidoluysian Atrophy is a rare disorder characterized by spinocerebellar degeneration.
Dermatitis Herpetiformis is a rare chronic blistering skin condition.
Dermatofibrosarcoma Protuberans is a rare type of malignant tumor.
Dermatomyositis is a rare autoimmune connective tissue disorder related to Polymyositis.
Desmin Related Myopathy is a disorder characterized by mutation in the gene for desmin which prevents it from forming protein filaments.
Diabetes mellitus type 1 is an autoimmune disease characterized by the permanent destruction of insulin-producing beta cells of the pancreas.
Diamond Blackfan Anemia is a rare blood condition where bone marrow produces little or no red blood cells.
Diastrophic Dysplasia is a congenial disorder which affects cartilage and bone development.
Diffuse ideopathic skeletal hyperostosis is a form of degenerative arthritis characterized by excessive bone growth along the sides of the vertebrae of the spine.
Diffuse Palmoplantar Keratoderma is characterized by an even, thick, symmetric hyperkeratosis over the whole of the palm and sole.
Diploid Triploid Mosaicism is a rare chromosomal disorder in which additional chromosomes are found in a portion of cells.
Distal Myopathy is a group of rare, slowly progressive, muscle disorders that primarily affect muscles in the lower arms, hands, lower legs and feet.
Distal Trisomy 10q is a rare disorder caused by an extra portion of the long arm on chromosome 10.
Donohue Syndrome is a rare genetic disorder caused by an impaired insulin receptor.
Dopamine-Responsive Dystonia is a genetic movement disorder.
Double Cortex Syndrome is a rare brain disorder that can cause mental retardation, learning disabilities, cognative disabilities and epilepsy due to an extra layer of nerves developed under the bra...
Down syndrome is a disorder originating from an additional 21st chromosome.
Dravet Syndrome is a rare epileptic encephalopathy classified in 1989 by the International League Against Epilepsy (ILAE) as a "syndrome undetermined as to whether seizures are focal or generalized...
Duane Syndrome is a rare eye movement disorder.
Duodenal Cancer is a rare cancer in the beginning section of the small intestine located between the stomach and the jejunum.
Dupuytren's Contracture is a rare condition in which the fingers bend towards the palm and cannot be fully straightened.
Dyskeratosis congenita is a rare congenital disorder resulting in premature aging.