MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 1,772 заболеваний (Мальформация)Сбросить

Mammary-digital-nail syndrome

ORPHA:238744Мальформация
Autosomal dominant

Mandibuloacral dysplasia

ORPHA:2457Мальформация
Autosomal recessive

Mandibuloacral dysplasia associated to MTX2

ORPHA:647667Мальформация
Autosomal recessive

Mandibulofacial dysostosis with alopecia

ORPHA:443995Мальформация
Autosomal dominant, Not applicable

Mandibulofacial dysostosis-microcephaly syndrome

ORPHA:79113Мальформация
Autosomal dominant

Marden-Walker syndrome

ORPHA:2461Мальформация
Autosomal recessive

Marfanoid habitus-autosomal recessive intellectual disability syndrome

ORPHA:2463Мальформация
Autosomal recessive

Marfanoid habitus-inguinal hernia-advanced bone age syndrome

ORPHA:314041Мальформация

Marfanoid syndrome, De Silva type

ORPHA:2464Мальформация

Marshall syndrome

ORPHA:560Мальформация
Autosomal dominant, Autosomal recessive

Marshall-Smith syndrome

ORPHA:561Мальформация
Autosomal dominant

Maternal hyperthermia-induced birth defects

ORPHA:2216Мальформация

Maternal phenylketonuria syndrome

ORPHA:2209Мальформация
Autosomal recessive

Maternal uniparental disomy of chromosome 1 syndrome

ORPHA:251009Мальформация
Not applicable, Unknown

Maternal uniparental disomy of chromosome 13 syndrome

ORPHA:97678Мальформация

Maternal uniparental disomy of chromosome 16 syndrome

ORPHA:96185Мальформация

Maternal uniparental disomy of chromosome 2 syndrome

ORPHA:96179Мальформация

Maternal uniparental disomy of chromosome 20 syndrome

ORPHA:96186Мальформация

Maternal uniparental disomy of chromosome 21 syndrome

ORPHA:96187Мальформация

Maternal uniparental disomy of chromosome 22 syndrome

ORPHA:96188Мальформация

Maternal uniparental disomy of chromosome 4 syndrome

ORPHA:96180Мальформация

Maternal uniparental disomy of chromosome 6 syndrome

ORPHA:96181Мальформация

Maternal uniparental disomy of chromosome 9 syndrome

ORPHA:96183Мальформация

Maternal uniparental disomy of chromosome X syndrome

ORPHA:261519Мальформация