MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Primary essential cutis verticis gyrata

ORPHA:357220Kr.

Primary failure of tooth eruption

ORPHA:412206Kr.
Autosomal dominant

Primary familial polycythemia

ORPHA:90042Kr.
Autosomal dominant

Primary hepatic neuroendocrine carcinoma

ORPHA:100085Kr.
Not applicable

Primary hyperaldosteronism-seizures-neurological abnormalities syndrome

ORPHA:369929Kr.
Not applicable

Primary hypereosinophilic syndrome

ORPHA:314950Kr.

Primary hypergonadotropic hypogonadism-partial alopecia syndrome

ORPHA:2232Kr.
Autosomal recessive

Primary hyperoxaluria

ORPHA:416Kr.
Autosomal recessive

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

ORPHA:306516Kr.
Autosomal recessive

Primary hypomagnesemia with secondary hypocalcemia

ORPHA:30924Kr.
Autosomal recessive

Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome

ORPHA:620363Kr.
Autosomal dominant, Autosomal recessive

Primary hypomagnesemia-refractory seizures-intellectual disability syndrome

ORPHA:564178Kr.
Autosomal dominant

Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency

ORPHA:90023Kr.
Autosomal recessive

Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

ORPHA:75391Kr.
Autosomal recessive

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

ORPHA:431166Kr.
Autosomal recessive

Primary intestinal lymphangiectasia

ORPHA:90362Kr.

Primary lateral sclerosis

ORPHA:35689Kr.
Autosomal dominant, Autosomal recessive, Not applicable

Primary mediastinal large B-cell lymphoma

ORPHA:98838Kr.
Multigenic/multifactorial, Not applicable

Primary melanoma of the central nervous system

ORPHA:252050Kr.

Primary membranoproliferative glomerulonephritis

ORPHA:54370Kr.
Not applicable

Primary membranous glomerulonephritis

ORPHA:97560Kr.

Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome

ORPHA:306558Kr.
Autosomal recessive

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

ORPHA:391408Kr.
Autosomal recessive

Primary myelofibrosis

ORPHA:824Kr.
Not applicable