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

Hip dysplasia, Beukes type

ORPHA:2114Заболевание
Autosomal dominant

Hirschsprung disease

ORPHA:388Заболевание
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable

His bundle tachycardia

ORPHA:3283Заболевание
Unknown

Histidinemia

ORPHA:2157Заболевание
Autosomal recessive

Histidinuria-renal tubular defect syndrome

ORPHA:2158Заболевание

Histiocytic sarcoma

ORPHA:86896Заболевание

Histiocytoid cardiomyopathy

ORPHA:137675Заболевание
Autosomal recessive, Unknown, X-linked dominant

Hobnail hemangioma

ORPHA:675362Заболевание

Holmes-Adie syndrome

ORPHA:454718Заболевание
Not applicable

Holocarboxylase synthetase deficiency

ORPHA:79242Заболевание
Autosomal recessive

Homocystinuria due to cystathionine beta-synthase deficiency

ORPHA:394Заболевание
Autosomal recessive

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

ORPHA:395Заболевание
Autosomal recessive

Homocystinuria without methylmalonic aciduria

ORPHA:622Заболевание
Autosomal recessive

Homozygous familial hypercholesterolemia

ORPHA:391665Заболевание
Autosomal dominant, Autosomal recessive

Homozygous hemoglobin O Arab disease

ORPHA:700111Заболевание
Autosomal recessive

Horizontal gaze palsy with progressive scoliosis

ORPHA:2744Заболевание
Autosomal recessive

Hot water reflex epilepsy

ORPHA:166412Заболевание
Autosomal dominant

Hoyeraal-Hreidarsson syndrome

ORPHA:3322Заболевание
Autosomal dominant, Autosomal recessive, X-linked recessive

Hughes-Stovin syndrome

ORPHA:228116Заболевание
Not applicable

Human infection by orthopoxvirus

ORPHA:438279Заболевание
Not applicable

Huntington disease

ORPHA:399Заболевание
Autosomal dominant

Huntington disease-like 1

ORPHA:157941Заболевание
Autosomal dominant

Huntington disease-like 2

ORPHA:98934Заболевание
Autosomal dominant

Huntington disease-like 3

ORPHA:157946Заболевание
Autosomal recessive