MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

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

Proximal spinal muscular atrophy type 1

ORPHA:83330Kl. subt.
Autosomal recessive

Proximal spinal muscular atrophy type 2

ORPHA:83418Kl. subt.
Autosomal recessive

Proximal spinal muscular atrophy type 3

ORPHA:83419Kl. subt.
Autosomal recessive

Proximal spinal muscular atrophy type 4

ORPHA:83420Kl. subt.
Autosomal recessive

Proximal symphalangism

ORPHA:3250Malf.
Autosomal dominant

Prune belly syndrome

ORPHA:2970Malf.
Autosomal dominant, Not applicable, X-linked recessive

Pruritic urticarial papules and plaques of pregnancy

ORPHA:64745Kr.

PsAPASH syndrome

ORPHA:641390Kr.

Pseudo-Meigs syndrome

ORPHA:314459Clinical syndrome
Not applicable

Pseudo-TORCH syndrome type 1

ORPHA:1229Malf.
Autosomal recessive

Pseudo-TORCH syndrome type 2

ORPHA:481665Kr.
Autosomal recessive

Pseudo-von Willebrand disease

ORPHA:52530Kr.
Autosomal dominant

Pseudoachondroplasia

ORPHA:750Kr.
Autosomal dominant

Pseudoaminopterin syndrome

ORPHA:221120Malf.

Pseudodiastrophic dysplasia

ORPHA:85174Malf.
Autosomal recessive

Pseudohypoaldosteronism type 1

ORPHA:756Kr.
Autosomal dominant, Autosomal recessive

Pseudohypoaldosteronism type 2

ORPHA:757Kr.
Autosomal dominant, Autosomal recessive

Pseudohypoaldosteronism type 2B

ORPHA:88939Ätl. subt.
Autosomal dominant

Pseudohypoaldosteronism type 2C

ORPHA:88940Ätl. subt.
Autosomal dominant