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

Properdin deficiency

ORPHA:2966Kr.
X-linked recessive

Propionic acidemia

ORPHA:35Kr.
Autosomal recessive

Proteasome-associated autoinflammatory syndrome

ORPHA:324977Kr.
Autosomal recessive

Protein S acquired deficiency

ORPHA:26349Kr.
Not applicable

Proximal myopathy with extrapyramidal signs

ORPHA:401768Kr.
Autosomal recessive

Proximal myopathy with focal depletion of mitochondria

ORPHA:521305Kr.
Mitochondrial inheritance

Proximal myotonic myopathy

ORPHA:606Kr.
Autosomal dominant

Proximal renal tubular acidosis

ORPHA:47159Kr.
Autosomal dominant, Autosomal recessive, Not applicable

Proximal spinal muscular atrophy

ORPHA:70Kr.
Autosomal recessive

Pruritic urticarial papules and plaques of pregnancy

ORPHA:64745Kr.

PsAPASH syndrome

ORPHA:641390Kr.

Pseudo-TORCH syndrome type 2

ORPHA:481665Kr.
Autosomal recessive

Pseudo-von Willebrand disease

ORPHA:52530Kr.
Autosomal dominant

Pseudoachondroplasia

ORPHA:750Kr.
Autosomal dominant

Pseudohypoaldosteronism type 1

ORPHA:756Kr.
Autosomal dominant, Autosomal recessive

Pseudohypoaldosteronism type 2

ORPHA:757Kr.
Autosomal dominant, Autosomal recessive

Pseudohypoparathyroidism type 1A

ORPHA:79443Kr.
Autosomal dominant

Pseudohypoparathyroidism type 1B

ORPHA:94089Kr.
Autosomal dominant, Not applicable

Pseudohypoparathyroidism type 1C

ORPHA:79444Kr.
Autosomal dominant

Pseudohypoparathyroidism type 2

ORPHA:94090Kr.
Not applicable

Pseudomyogenic hemangioendothelioma

ORPHA:673556Kr.

Pseudomyxoma peritonei

ORPHA:26790Kr.
Unknown

Pseudopelade of Brocq

ORPHA:129Kr.
Not applicable

Pseudopseudohypoparathyroidism

ORPHA:79445Kr.
Autosomal dominant