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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 3,968 заболеваний (Disease) Сброс

Properdin deficiency

ORPHA:2966Disease
X-linked recessive

Propionic acidemia

ORPHA:35Disease
Autosomal recessive

Proteasome-associated autoinflammatory syndrome

ORPHA:324977Disease
Autosomal recessive

Protein S acquired deficiency

ORPHA:26349Disease
Not applicable

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

Pruritic urticarial papules and plaques of pregnancy

ORPHA:64745Disease

PsAPASH syndrome

ORPHA:641390Disease

Pseudo-TORCH syndrome type 2

ORPHA:481665Disease
Autosomal recessive

Pseudo-von Willebrand disease

ORPHA:52530Disease
Autosomal dominant

Pseudoachondroplasia

ORPHA:750Disease
Autosomal dominant

Pseudohypoaldosteronism type 1

ORPHA:756Disease
Autosomal dominant, Autosomal recessive

Pseudohypoaldosteronism type 2

ORPHA:757Disease
Autosomal dominant, Autosomal recessive

Pseudohypoparathyroidism type 1A

ORPHA:79443Disease
Autosomal dominant

Pseudohypoparathyroidism type 1B

ORPHA:94089Disease
Autosomal dominant, Not applicable

Pseudohypoparathyroidism type 1C

ORPHA:79444Disease
Autosomal dominant

Pseudohypoparathyroidism type 2

ORPHA:94090Disease
Not applicable

Pseudomyogenic hemangioendothelioma

ORPHA:673556Disease

Pseudomyxoma peritonei

ORPHA:26790Disease
Unknown

Pseudopelade of Brocq

ORPHA:129Disease
Not applicable

Pseudopseudohypoparathyroidism

ORPHA:79445Disease
Autosomal dominant