MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Pseudohypoaldosteronism type 2D

ORPHA:300525Этиол. подтип
Autosomal dominant, Autosomal recessive

Pseudohypoaldosteronism type 2E

ORPHA:300530Этиол. подтип
Autosomal dominant

Pseudohypoparathyroidism

ORPHA:97593Категория
Autosomal dominant, Not applicable

Pseudohypoparathyroidism type 1A

ORPHA:79443Заболевание
Autosomal dominant

Pseudohypoparathyroidism type 1B

ORPHA:94089Заболевание
Autosomal dominant, Not applicable

Pseudohypoparathyroidism type 1C

ORPHA:79444Заболевание
Autosomal dominant

Pseudohypoparathyroidism type 2

ORPHA:94090Заболевание
Not applicable

Pseudohypoparathyroidism with Albright hereditary osteodystrophy

ORPHA:457059Клин. группа

Pseudoleprechaunism syndrome, Patterson type

ORPHA:2976Мальформация

Pseudomyogenic hemangioendothelioma

ORPHA:673556Заболевание

Pseudomyxoma peritonei

ORPHA:26790Заболевание
Unknown

Pseudopelade of Brocq

ORPHA:129Заболевание
Not applicable

Pseudoprogeria syndrome

ORPHA:2985Мальформация
Unknown

Pseudopseudohypoparathyroidism

ORPHA:79445Заболевание
Autosomal dominant

Pseudotyphus of California

ORPHA:83316Заболевание
Not applicable

Pseudoxanthoma elasticum

ORPHA:758Заболевание
Autosomal recessive

Pseudoxanthoma elasticum-like papillary dermal elastolysis

ORPHA:228293Заболевание
Not applicable

Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

ORPHA:436274Заболевание
Autosomal recessive

Pseudoxanthomatous diffuse cutaneous mastocytosis

ORPHA:280794Клин. подтип
Not applicable

Psoriasis-related juvenile idiopathic arthritis

ORPHA:85436Заболевание
Unknown

Psychogenic movement disorders

ORPHA:71519Clinical syndrome
Not applicable

Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

ORPHA:505242Заболевание
Autosomal recessive

Pterin-4 alpha-carbinolamine dehydratase deficiency

ORPHA:1578Клин. подтип
Autosomal recessive

Pterygium colli-intellectual disability-digital anomalies syndrome

ORPHA:2988Мальформация
Autosomal dominant, X-linked dominant