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

Discoid lupus erythematosus

ORPHA:90281Заболевание

Dissecting cellulitis of the scalp

ORPHA:345Заболевание
Not applicable

Disseminated peritoneal leiomyomatosis

ORPHA:71274Заболевание
Unknown

Disseminated superficial actinic porokeratosis

ORPHA:79152Заболевание
Autosomal dominant

Distal anoctaminopathy

ORPHA:399096Заболевание
Autosomal recessive

Distal arthrogryposis type 5D

ORPHA:329457Заболевание
Autosomal recessive

Distal hereditary motor neuropathy type 1

ORPHA:139518Заболевание
Autosomal dominant

Distal hereditary motor neuropathy type 2

ORPHA:139525Заболевание
Autosomal dominant

Distal hereditary motor neuropathy type 5

ORPHA:139536Заболевание
Autosomal dominant

Distal hereditary motor neuropathy type 7

ORPHA:139589Заболевание
Autosomal dominant

Distal hereditary motor neuropathy, Jerash type

ORPHA:139552Заболевание
Autosomal recessive

Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy

ORPHA:700508Заболевание
Autosomal recessive

Distal myopathy with anterior tibial onset

ORPHA:178400Заболевание
Autosomal recessive

Distal myopathy, Tateyama type

ORPHA:488650Заболевание
Autosomal dominant

Distal myopathy, Welander type

ORPHA:603Заболевание
Autosomal dominant

Distal myotilinopathy

ORPHA:98911Заболевание
Autosomal dominant

Distal renal tubular acidosis

ORPHA:18Заболевание
Autosomal dominant, Autosomal recessive, Not applicable

Distal spinal muscular atrophy type 3

ORPHA:139547Заболевание
Autosomal recessive

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

ORPHA:244305Заболевание
Autosomal dominant

Dopa-responsive dystonia due to sepiapterin reductase deficiency

ORPHA:70594Заболевание
Autosomal recessive

Dopamine beta-hydroxylase deficiency

ORPHA:230Заболевание
Autosomal recessive

Dowling-Degos disease

ORPHA:79145Заболевание
Autosomal dominant

Dracunculiasis

ORPHA:231Заболевание

Dravet syndrome

ORPHA:33069Заболевание
Autosomal dominant