MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

ORPHA:444138Заболевание
Autosomal recessive

Pelizaeus-Merzbacher disease

ORPHA:702Заболевание
X-linked dominant, X-linked recessive

Pelizaeus-Merzbacher-like disease

ORPHA:280270Заболевание
Autosomal recessive

Pemphigoid gestationis

ORPHA:63275Заболевание

Pemphigus erythematosus

ORPHA:79480Заболевание

Pemphigus foliaceus

ORPHA:79481Заболевание

Pemphigus vegetans

ORPHA:79479Заболевание

Pemphigus vulgaris

ORPHA:704Заболевание
Not applicable

Pentosuria

ORPHA:2843Заболевание
Autosomal recessive

Perifoveal exudative vascular anomalous complex

ORPHA:674930Заболевание
Unknown

Perihilar cholangiocarcinoma

ORPHA:99978Заболевание
Not applicable

Periodic fever-immunodeficiency-thrombocytopenia syndrome

ORPHA:652522Заболевание
Autosomal recessive

Periodic fever-infantile enterocolitis-autoinflammatory syndrome

ORPHA:436166Заболевание
Autosomal dominant

Periodic paralysis with later-onset distal motor neuropathy

ORPHA:397750Заболевание
Mitochondrial inheritance

Periodic paralysis with transient compartment-like syndrome

ORPHA:397755Заболевание
Autosomal dominant

Periodontal Ehlers-Danlos syndrome

ORPHA:75392Заболевание
Autosomal dominant

Perioral myoclonia with absences

ORPHA:139426Заболевание

Peripartum cardiomyopathy

ORPHA:563Заболевание
Unknown

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

ORPHA:163746Заболевание
Autosomal dominant

Peripheral motor neuropathy-dysautonomia syndrome

ORPHA:2400Заболевание
Unknown

Peripheral primitive neuroectodermal tumor

ORPHA:370348Заболевание
Not applicable

Peritoneal inclusion cyst

ORPHA:168816Заболевание
Unknown

Perivascular epithelioid cell neoplasm

ORPHA:595133Заболевание

Peroxisomal acyl-CoA oxidase deficiency

ORPHA:2971Заболевание
Autosomal recessive