MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

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. подтип
Autosomal recessive

Proximal spinal muscular atrophy type 2

ORPHA:83418Клин. подтип
Autosomal recessive

Proximal spinal muscular atrophy type 3

ORPHA:83419Клин. подтип
Autosomal recessive

Proximal spinal muscular atrophy type 4

ORPHA:83420Клин. подтип
Autosomal recessive

Proximal symphalangism

ORPHA:3250Мальформация
Autosomal dominant

Prune belly syndrome

ORPHA:2970Мальформация
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:1229Мальформация
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:221120Мальформация

Pseudodiastrophic dysplasia

ORPHA:85174Мальформация
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. подтип
Autosomal dominant

Pseudohypoaldosteronism type 2C

ORPHA:88940Этиол. подтип
Autosomal dominant