Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Acromesomelic dysplasia, Hunter-Thompson type
Autosomal recessive
Antenatal, Neonatal
Acromesomelic dysplasia, Maroteaux type
Autosomal recessive
Infancy, Neonatal
Acromicric dysplasia
Autosomal dominant
Neonatal
Acroosteolysis-keloid-like lesions-premature aging syndrome
Autosomal dominant
Infancy, Neonatal
Acrootoocular syndrome
Autosomal recessive
Infancy, Neonatal
Acropectoral syndrome
Autosomal dominant
Infancy, Neonatal
Acropectorovertebral dysplasia
Autosomal dominant
Antenatal, Neonatal
Acrorenal syndrome
Autosomal recessive
Neonatal
Actinic lichen planus
All ages
Actinic prurigo
Multigenic/multifactorial, Not applicable
Childhood
Actinomycosis
Not applicable
All ages
Actinomyopathy-associated syndromic thrombocytopenia
Autosomal dominant
Action myoclonus-renal failure syndrome
Autosomal recessive
Adolescent, Adult
Activated PI3K-delta syndrome
Autosomal dominant
Adult, Childhood, Infancy
Activated PI3K-delta syndrome 1
Autosomal dominant
Activated PI3K-delta syndrome 2
Autosomal dominant
Acute ackee fruit intoxication
Not applicable
All ages
Acute adrenal insufficiency
Autosomal recessive, Not applicable, X-linked dominant
All ages
Acute annular outer retinopathy
Not applicable
Adult
Acute basophilic leukemia
All ages
Acute bilirubin encephalopathy
Neonatal
Acute disseminated encephalomyelitis
Not applicable
All ages
Acute encephalopathy with biphasic seizures and late reduced diffusion
Infancy, Neonatal
Acute encephalopathy with inflammation-mediated status epilepticus
All ages