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

Isolated follicle stimulating hormone deficiency

ORPHA:52901Заболевание
Autosomal recessive

Isolated generalized anhidrosis with normal sweat glands

ORPHA:468666Заболевание
Autosomal recessive

Isolated glycerol kinase deficiency

ORPHA:408Заболевание
X-linked recessive

Isolated hyperchlorhidrosis

ORPHA:542657Заболевание
Autosomal recessive

Isolated lissencephaly type 1 without known genetic defects

ORPHA:1084Заболевание
Unknown

Isolated melanotic schwannoma

ORPHA:590539Заболевание

Isolated mesenteric vein thrombosis

ORPHA:583861Заболевание

Isolated micronodular adrenocortical disease

ORPHA:647782Заболевание

Isolated neonatal sclerosing cholangitis

ORPHA:480556Заболевание
Autosomal recessive

Isolated osteopoikilosis

ORPHA:166119Заболевание
Autosomal dominant

Isolated permanent neonatal diabetes mellitus

ORPHA:99885Заболевание
Autosomal dominant, Autosomal recessive

Isolated primary pigmented nodular adrenocortical disease

ORPHA:647772Заболевание

Isolated pulmonary capillaritis

ORPHA:264691Заболевание
Not applicable

Isolated sedoheptulokinase deficiency

ORPHA:440713Заболевание
Autosomal recessive

Isolated splenic vein thrombosis

ORPHA:583856Заболевание

Isolated succinate-CoQ reductase deficiency

ORPHA:3208Заболевание
Autosomal recessive

Isolated thyroid-stimulating hormone deficiency

ORPHA:90674Заболевание
Autosomal recessive

Isolated thyrotropin-releasing hormone deficiency

ORPHA:238670Заболевание
Unknown

Isosporiasis

ORPHA:472Заболевание
Not applicable

Isovaleric acidemia

ORPHA:33Заболевание
Autosomal recessive

Jansen-de Vries syndrome

ORPHA:653767Заболевание
Autosomal dominant

Japanese encephalitis

ORPHA:79139Заболевание
Not applicable

Jervell and Lange-Nielsen syndrome

ORPHA:90647Заболевание
Autosomal recessive

Jessner lymphocytic infiltration of the skin

ORPHA:33314Заболевание
Not applicable