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

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

ORPHA:276598Заболевание
Autosomal recessive

Dicarboxylic aminoaciduria

ORPHA:2195Заболевание
Autosomal recessive

Didymosis aplasticosebacea

ORPHA:370046Заболевание
Not applicable

Diencephalic syndrome

ORPHA:1672Заболевание
Not applicable

Dietary iron overload disease

ORPHA:139507Заболевание
Not applicable

Difference of sex development-intellectual disability syndrome

ORPHA:2983Заболевание
Unknown

Differentiated thyroid carcinoma

ORPHA:146Заболевание
Not applicable

Diffuse astrocytoma

ORPHA:251595Заболевание

Diffuse cutaneous mastocytosis

ORPHA:79456Заболевание
Not applicable

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

ORPHA:617916Заболевание

Diffuse intrinsic pontine glioma

ORPHA:497188Заболевание

Diffuse large B-cell lymphoma of the central nervous system

ORPHA:300849Заболевание
Multigenic/multifactorial, Not applicable

Diffuse palmoplantar keratoderma with painful fissures

ORPHA:369999Заболевание
Autosomal dominant

Diffuse palmoplantar keratoderma, Bothnian type

ORPHA:2337Заболевание
Autosomal dominant

Diffuse palmoplantar keratoderma-acrocyanosis syndrome

ORPHA:86918Заболевание
Autosomal dominant

Diffuse panbronchiolitis

ORPHA:171700Заболевание
Multigenic/multifactorial

Digenic hemochromatosis

ORPHA:648581Заболевание

Dihydropyrimidine dehydrogenase deficiency

ORPHA:1675Заболевание
Autosomal recessive

Dihydropyrimidinuria

ORPHA:38874Заболевание
Autosomal recessive

Dilated cardiomyopathy with ataxia

ORPHA:66634Заболевание
Autosomal recessive

Dimethylglycine dehydrogenase deficiency

ORPHA:243343Заболевание
Autosomal recessive

Diphtheria

ORPHA:1679Заболевание

Diphyllobothriasis

ORPHA:128Заболевание
Not applicable

Dirofilariasis

ORPHA:166291Заболевание
Not applicable