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

Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency

ORPHA:574957Заболевание
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

ORPHA:319595Заболевание
Autosomal dominant

Meningioma

ORPHA:2495Заболевание
Not applicable

Meningococcal meningitis

ORPHA:33475Заболевание
Not applicable

Menkes disease

ORPHA:565Заболевание
X-linked recessive

Menstrual cycle-dependent periodic fever

ORPHA:498251Заболевание

Mercury poisoning

ORPHA:330021Заболевание
Not applicable

Mesial temporal lobe epilepsy with hippocampal sclerosis

ORPHA:99701Заболевание

Mesothelioma of the tunica vaginalis

ORPHA:685010Заболевание

Metabolic myopathy due to lactate transporter defect

ORPHA:171690Заболевание
Autosomal dominant

Metachromatic leukodystrophy

ORPHA:512Заболевание
Autosomal recessive

Metaphyseal anadysplasia

ORPHA:1040Заболевание
Autosomal dominant, Autosomal recessive

Metaphyseal chondrodysplasia, Jansen type

ORPHA:33067Заболевание
Autosomal dominant

Metaphyseal chondrodysplasia, Kaitila type

ORPHA:166038Заболевание

Metaphyseal chondrodysplasia, Rosenberg type

ORPHA:1837Заболевание

Metaphyseal chondrodysplasia, Schmid type

ORPHA:174Заболевание
Autosomal dominant

Metaphyseal chondrodysplasia, Spahr type

ORPHA:2501Заболевание
Autosomal recessive

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

ORPHA:99646Заболевание
Not applicable

Metaplastic carcinoma of the breast

ORPHA:213531Заболевание

Metatropic dysplasia

ORPHA:2635Заболевание
Autosomal dominant, Not applicable

Methanol poisoning

ORPHA:31825Заболевание
Not applicable

Methionine adenosyltransferase I/III deficiency

ORPHA:168598Заболевание
Autosomal recessive

Methotrexate toxicity

ORPHA:565782Заболевание
Not applicable

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

ORPHA:308425Заболевание
Autosomal recessive