MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Metabolic myopathy due to lactate transporter defect

ORPHA:171690Заболевание
Autosomal dominant

Metachondromatosis

ORPHA:2499Мальформация
Autosomal dominant

Metachromatic leukodystrophy

ORPHA:512Заболевание
Autosomal recessive

Metachromatic leukodystrophy, adult form

ORPHA:309271Клин. подтип
Autosomal recessive

Metachromatic leukodystrophy, juvenile form

ORPHA:309263Клин. подтип
Autosomal recessive

Metachromatic leukodystrophy, late infantile form

ORPHA:309256Клин. подтип
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

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

ORPHA:2502Мальформация
Autosomal recessive

Metaphyseal dysplasia, Braun-Tinschert type

ORPHA:85188Мальформация

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome

ORPHA:2504Мальформация
Autosomal dominant

Metaplastic carcinoma of the breast

ORPHA:213531Заболевание

Metatropic dysplasia

ORPHA:2635Заболевание
Autosomal dominant, Not applicable

Methanol poisoning

ORPHA:31825Заболевание
Not applicable

Methimazole embryofetopathy

ORPHA:1923Мальформация
Not applicable

Methionine adenosyltransferase I/III deficiency

ORPHA:168598Заболевание
Autosomal recessive

Methotrexate toxicity

ORPHA:565782Заболевание
Not applicable

Methylcobalamin deficiency type cblDv1

ORPHA:308380Клин. подтип
Autosomal recessive

Methylcobalamin deficiency type cblE

ORPHA:2169Клин. подтип
Autosomal recessive