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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 3,968 заболеваний (Disease) Сброс

Primary essential cutis verticis gyrata

ORPHA:357220Disease

Primary failure of tooth eruption

ORPHA:412206Disease
Autosomal dominant

Primary familial polycythemia

ORPHA:90042Disease
Autosomal dominant

Primary hepatic neuroendocrine carcinoma

ORPHA:100085Disease
Not applicable

Primary hyperaldosteronism-seizures-neurological abnormalities syndrome

ORPHA:369929Disease
Not applicable

Primary hypereosinophilic syndrome

ORPHA:314950Disease

Primary hypergonadotropic hypogonadism-partial alopecia syndrome

ORPHA:2232Disease
Autosomal recessive

Primary hyperoxaluria

ORPHA:416Disease
Autosomal recessive

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

ORPHA:306516Disease
Autosomal recessive

Primary hypomagnesemia with secondary hypocalcemia

ORPHA:30924Disease
Autosomal recessive

Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome

ORPHA:620363Disease
Autosomal dominant, Autosomal recessive

Primary hypomagnesemia-refractory seizures-intellectual disability syndrome

ORPHA:564178Disease
Autosomal dominant

Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency

ORPHA:90023Disease
Autosomal recessive

Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

ORPHA:75391Disease
Autosomal recessive

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

ORPHA:431166Disease
Autosomal recessive

Primary intestinal lymphangiectasia

ORPHA:90362Disease

Primary lateral sclerosis

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

Primary mediastinal large B-cell lymphoma

ORPHA:98838Disease
Multigenic/multifactorial, Not applicable

Primary melanoma of the central nervous system

ORPHA:252050Disease

Primary membranoproliferative glomerulonephritis

ORPHA:54370Disease
Not applicable

Primary membranous glomerulonephritis

ORPHA:97560Disease

Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome

ORPHA:306558Disease
Autosomal recessive

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

ORPHA:391408Disease
Autosomal recessive

Primary myelofibrosis

ORPHA:824Disease
Not applicable