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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Proximal myopathy with extrapyramidal signs

ORPHA:401768Ауру
Autosomal recessive

Proximal myopathy with focal depletion of mitochondria

ORPHA:521305Ауру
Mitochondrial inheritance

Proximal myotonic myopathy

ORPHA:606Ауру
Autosomal dominant

Proximal renal tubular acidosis

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

Proximal spinal muscular atrophy

ORPHA:70Ауру
Autosomal recessive

Proximal spinal muscular atrophy type 1

ORPHA:83330Клин. под.
Autosomal recessive

Proximal spinal muscular atrophy type 2

ORPHA:83418Клин. под.
Autosomal recessive

Proximal spinal muscular atrophy type 3

ORPHA:83419Клин. под.
Autosomal recessive

Proximal spinal muscular atrophy type 4

ORPHA:83420Клин. под.
Autosomal recessive

Proximal symphalangism

ORPHA:3250Мальф.
Autosomal dominant

Prune belly syndrome

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

Pruritic urticarial papules and plaques of pregnancy

ORPHA:64745Ауру

PsAPASH syndrome

ORPHA:641390Ауру

Pseudo-Meigs syndrome

ORPHA:314459Clinical syndrome
Not applicable

Pseudo-TORCH syndrome type 1

ORPHA:1229Мальф.
Autosomal recessive

Pseudo-TORCH syndrome type 2

ORPHA:481665Ауру
Autosomal recessive

Pseudo-von Willebrand disease

ORPHA:52530Ауру
Autosomal dominant

Pseudoachondroplasia

ORPHA:750Ауру
Autosomal dominant

Pseudoaminopterin syndrome

ORPHA:221120Мальф.

Pseudodiastrophic dysplasia

ORPHA:85174Мальф.
Autosomal recessive

Pseudohypoaldosteronism type 1

ORPHA:756Ауру
Autosomal dominant, Autosomal recessive

Pseudohypoaldosteronism type 2

ORPHA:757Ауру
Autosomal dominant, Autosomal recessive

Pseudohypoaldosteronism type 2B

ORPHA:88939Этио. под.
Autosomal dominant

Pseudohypoaldosteronism type 2C

ORPHA:88940Этио. под.
Autosomal dominant