MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Proximal myopathy with extrapyramidal signs

ORPHA:401768Disease
Autosomal recessive

Proximal myopathy with focal depletion of mitochondria

ORPHA:521305Disease
Mitochondrial inheritance

Proximal myotonic myopathy

ORPHA:606Disease
Autosomal dominant

Proximal renal tubular acidosis

ORPHA:47159Disease
Autosomal dominant, Autosomal recessive, Not applicable

Proximal spinal muscular atrophy

ORPHA:70Disease
Autosomal recessive

Proximal spinal muscular atrophy type 1

ORPHA:83330Clin. sub.
Autosomal recessive

Proximal spinal muscular atrophy type 2

ORPHA:83418Clin. sub.
Autosomal recessive

Proximal spinal muscular atrophy type 3

ORPHA:83419Clin. sub.
Autosomal recessive

Proximal spinal muscular atrophy type 4

ORPHA:83420Clin. sub.
Autosomal recessive

Proximal symphalangism

ORPHA:3250Malform.
Autosomal dominant

Prune belly syndrome

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

Pruritic urticarial papules and plaques of pregnancy

ORPHA:64745Disease

PsAPASH syndrome

ORPHA:641390Disease

Pseudo-Meigs syndrome

ORPHA:314459Clinical syndrome
Not applicable

Pseudo-TORCH syndrome type 1

ORPHA:1229Malform.
Autosomal recessive

Pseudo-TORCH syndrome type 2

ORPHA:481665Disease
Autosomal recessive

Pseudo-von Willebrand disease

ORPHA:52530Disease
Autosomal dominant

Pseudoachondroplasia

ORPHA:750Disease
Autosomal dominant

Pseudoaminopterin syndrome

ORPHA:221120Malform.

Pseudodiastrophic dysplasia

ORPHA:85174Malform.
Autosomal recessive

Pseudohypoaldosteronism type 1

ORPHA:756Disease
Autosomal dominant, Autosomal recessive

Pseudohypoaldosteronism type 2

ORPHA:757Disease
Autosomal dominant, Autosomal recessive

Pseudohypoaldosteronism type 2B

ORPHA:88939Etio. sub.
Autosomal dominant

Pseudohypoaldosteronism type 2C

ORPHA:88940Etio. sub.
Autosomal dominant