Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Serine biosynthesis pathway deficiency, infantile/juvenile form
Antenatal, Infancy, Neonatal
Serotonin syndrome
Not applicable
All ages
Serous carcinoma of the corpus uteri
Serous cystadenocarcinoma of pancreas
Not applicable
Adult
Serrated polyposis syndrome
Autosomal dominant, Multigenic/multifactorial, Unknown
Adult, Elderly
Severe X-linked mitochondrial encephalomyopathy
X-linked recessive
Infancy, Neonatal
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Autosomal dominant, Not applicable
Childhood
Severe acute respiratory syndrome
Not applicable
All ages
Severe autosomal recessive macrothrombocytopenia
Autosomal recessive
Infancy
Severe combined immunodeficiency due to CORO1A deficiency
Autosomal recessive
Childhood, Infancy, Neonatal
Severe combined immunodeficiency due to CTPS1 deficiency
Autosomal recessive
Childhood, Infancy, Neonatal
Severe combined immunodeficiency due to DCLRE1C deficiency
Autosomal recessive
Infancy, Neonatal
Severe combined immunodeficiency due to DNA-PKcs deficiency
Autosomal recessive
Infancy, Neonatal
Severe combined immunodeficiency due to FOXN1 deficiency
Autosomal recessive
Infancy, Neonatal
Severe combined immunodeficiency due to LAT deficiency
Autosomal recessive
Infancy
Severe combined immunodeficiency due to adenosine deaminase deficiency
Autosomal recessive
Infancy, Neonatal
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Autosomal recessive
Infancy
Severe congenital hypochromic anemia with ringed sideroblasts
Unknown
Infancy, Neonatal
Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
Autosomal recessive
Severe congenital nemaline myopathy
Autosomal recessive
Infancy, Neonatal
Severe congenital neutropenia due to G6PC3 deficiency
Autosomal recessive
Infancy, Neonatal
Severe congenital neutropenia due to JAGN1 deficiency
Autosomal recessive
Infancy, Neonatal
Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency
Autosomal dominant
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Autosomal recessive
Infancy, Neonatal