Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Primary essential cutis verticis gyrata
Adolescent, Adult
Primary failure of tooth eruption
Autosomal dominant
Primary familial polycythemia
Autosomal dominant
All ages
Primary hepatic neuroendocrine carcinoma
Not applicable
Adult
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Not applicable
Infancy, Neonatal
Primary hypereosinophilic syndrome
All ages
Primary hypergonadotropic hypogonadism-partial alopecia syndrome
Autosomal recessive
Neonatal
Primary hyperoxaluria
Autosomal recessive
All ages
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Autosomal recessive
Childhood, Infancy
Primary hypomagnesemia with secondary hypocalcemia
Autosomal recessive
Infancy, Neonatal
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
Autosomal dominant, Autosomal recessive
Childhood, Infancy
Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
Autosomal dominant
Infancy, Neonatal
Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
Autosomal recessive
Infancy, Neonatal
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Autosomal recessive
Childhood
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Autosomal recessive
Infancy
Primary intestinal lymphangiectasia
All ages
Primary lateral sclerosis
Autosomal dominant, Autosomal recessive, Not applicable
Adult, Elderly
Primary mediastinal large B-cell lymphoma
Multigenic/multifactorial, Not applicable
Adult
Primary melanoma of the central nervous system
Adult
Primary membranoproliferative glomerulonephritis
Not applicable
Adult
Primary membranous glomerulonephritis
Adult
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Autosomal recessive
Neonatal
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Autosomal recessive
Adolescent, Childhood
Primary myelofibrosis
Not applicable
Adult