MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Primary essential cutis verticis gyrata

ORPHA:357220Заболевание

Primary failure of tooth eruption

ORPHA:412206Заболевание
Autosomal dominant

Primary familial polycythemia

ORPHA:90042Заболевание
Autosomal dominant

Primary hepatic neuroendocrine carcinoma

ORPHA:100085Заболевание
Not applicable

Primary hyperaldosteronism-seizures-neurological abnormalities syndrome

ORPHA:369929Заболевание
Not applicable

Primary hypereosinophilic syndrome

ORPHA:314950Заболевание

Primary hypergonadotropic hypogonadism-partial alopecia syndrome

ORPHA:2232Заболевание
Autosomal recessive

Primary hyperoxaluria

ORPHA:416Заболевание
Autosomal recessive

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

ORPHA:306516Заболевание
Autosomal recessive

Primary hypomagnesemia with secondary hypocalcemia

ORPHA:30924Заболевание
Autosomal recessive

Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome

ORPHA:620363Заболевание
Autosomal dominant, Autosomal recessive

Primary hypomagnesemia-refractory seizures-intellectual disability syndrome

ORPHA:564178Заболевание
Autosomal dominant

Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency

ORPHA:90023Заболевание
Autosomal recessive

Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

ORPHA:75391Заболевание
Autosomal recessive

Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

ORPHA:431166Заболевание
Autosomal recessive

Primary intestinal lymphangiectasia

ORPHA:90362Заболевание

Primary lateral sclerosis

ORPHA:35689Заболевание
Autosomal dominant, Autosomal recessive, Not applicable

Primary mediastinal large B-cell lymphoma

ORPHA:98838Заболевание
Multigenic/multifactorial, Not applicable

Primary melanoma of the central nervous system

ORPHA:252050Заболевание

Primary membranoproliferative glomerulonephritis

ORPHA:54370Заболевание
Not applicable

Primary membranous glomerulonephritis

ORPHA:97560Заболевание

Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome

ORPHA:306558Заболевание
Autosomal recessive

Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome

ORPHA:391408Заболевание
Autosomal recessive

Primary myelofibrosis

ORPHA:824Заболевание
Not applicable