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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

Perrault syndrome

ORPHA:2855Disease
Autosomal recessive

Perry syndrome

ORPHA:178509Disease
Autosomal dominant

Persistent hyperplastic primary vitreous

ORPHA:91495Disease
Autosomal dominant, Autosomal recessive

Persistent idiopathic facial pain

ORPHA:398147Disease

Persistent placoid maculopathy

ORPHA:97341Disease

Persistent polyclonal B-cell lymphocytosis

ORPHA:300324Disease
Multigenic/multifactorial

Peutz-Jeghers syndrome

ORPHA:2869Disease
Autosomal dominant

Phacoanaphylactic uveitis

ORPHA:209959Disease
Not applicable

Phakomatosis pigmentovascularis

ORPHA:2875Disease
Not applicable

Phalangeal microgeodic syndrome

ORPHA:352636Disease
Not applicable

Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome

ORPHA:231426Disease
Multigenic/multifactorial, Not applicable

Phenylketonuria

ORPHA:716Disease
Autosomal recessive

Phosphoenolpyruvate carboxykinase deficiency

ORPHA:2880Disease
Autosomal recessive, Mitochondrial inheritance

Phosphoribosylpyrophosphate synthetase superactivity

ORPHA:3222Disease
X-linked recessive

Photosensitive occipital lobe epilepsy

ORPHA:166409Disease

Phyllodes tumor of the breast

ORPHA:180261Disease

Phyllodes tumor of the prostate

ORPHA:498228Disease

Piebaldism

ORPHA:2884Disease
Autosomal dominant

Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome

ORPHA:447961Disease
Autosomal recessive

Pigmented paravenous retinochoroidal atrophy

ORPHA:251295Disease
Autosomal dominant, Not applicable

Pili bifurcati

ORPHA:720Disease

Pili gemini

ORPHA:79492Disease

Pili torti

ORPHA:2889Disease
Autosomal recessive

Pilocytic astrocytoma

ORPHA:251612Disease
Not applicable