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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Proximal myopathy with extrapyramidal signs

ORPHA:401768Заболевание
Autosomal recessive

Proximal myopathy with focal depletion of mitochondria

ORPHA:521305Заболевание
Mitochondrial inheritance

Proximal myotonic myopathy

ORPHA:606Заболевание
Autosomal dominant

Proximal renal tubular acidosis

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

Proximal spinal muscular atrophy

ORPHA:70Заболевание
Autosomal recessive

Proximal spinal muscular atrophy type 1

ORPHA:83330Клин. подт.
Autosomal recessive

Proximal spinal muscular atrophy type 2

ORPHA:83418Клин. подт.
Autosomal recessive

Proximal spinal muscular atrophy type 3

ORPHA:83419Клин. подт.
Autosomal recessive

Proximal spinal muscular atrophy type 4

ORPHA:83420Клин. подт.
Autosomal recessive

Proximal symphalangism

ORPHA:3250Порок
Autosomal dominant

Prune belly syndrome

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

Pruritic urticarial papules and plaques of pregnancy

ORPHA:64745Заболевание

PsAPASH syndrome

ORPHA:641390Заболевание

Pseudo-Meigs syndrome

ORPHA:314459Clinical syndrome
Not applicable

Pseudo-TORCH syndrome type 1

ORPHA:1229Порок
Autosomal recessive

Pseudo-TORCH syndrome type 2

ORPHA:481665Заболевание
Autosomal recessive

Pseudo-von Willebrand disease

ORPHA:52530Заболевание
Autosomal dominant

Pseudoachondroplasia

ORPHA:750Заболевание
Autosomal dominant

Pseudoaminopterin syndrome

ORPHA:221120Порок

Pseudodiastrophic dysplasia

ORPHA:85174Порок
Autosomal recessive

Pseudohypoaldosteronism type 1

ORPHA:756Заболевание
Autosomal dominant, Autosomal recessive

Pseudohypoaldosteronism type 2

ORPHA:757Заболевание
Autosomal dominant, Autosomal recessive

Pseudohypoaldosteronism type 2B

ORPHA:88939Этиол. подт.
Autosomal dominant

Pseudohypoaldosteronism type 2C

ORPHA:88940Этиол. подт.
Autosomal dominant