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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

Mammary-digital-nail syndrome

ORPHA:238744Порок
Autosomal dominant

Mandibuloacral dysplasia

ORPHA:2457Порок
Autosomal recessive

Mandibuloacral dysplasia associated to MTX2

ORPHA:647667Порок
Autosomal recessive

Mandibulofacial dysostosis with alopecia

ORPHA:443995Порок
Autosomal dominant, Not applicable

Mandibulofacial dysostosis-microcephaly syndrome

ORPHA:79113Порок
Autosomal dominant

Marden-Walker syndrome

ORPHA:2461Порок
Autosomal recessive

Marfanoid habitus-autosomal recessive intellectual disability syndrome

ORPHA:2463Порок
Autosomal recessive

Marfanoid habitus-inguinal hernia-advanced bone age syndrome

ORPHA:314041Порок

Marfanoid syndrome, De Silva type

ORPHA:2464Порок

Marshall syndrome

ORPHA:560Порок
Autosomal dominant, Autosomal recessive

Marshall-Smith syndrome

ORPHA:561Порок
Autosomal dominant

Maternal hyperthermia-induced birth defects

ORPHA:2216Порок

Maternal phenylketonuria syndrome

ORPHA:2209Порок
Autosomal recessive

Maternal uniparental disomy of chromosome 1 syndrome

ORPHA:251009Порок
Not applicable, Unknown

Maternal uniparental disomy of chromosome 13 syndrome

ORPHA:97678Порок

Maternal uniparental disomy of chromosome 16 syndrome

ORPHA:96185Порок

Maternal uniparental disomy of chromosome 2 syndrome

ORPHA:96179Порок

Maternal uniparental disomy of chromosome 20 syndrome

ORPHA:96186Порок

Maternal uniparental disomy of chromosome 21 syndrome

ORPHA:96187Порок

Maternal uniparental disomy of chromosome 22 syndrome

ORPHA:96188Порок

Maternal uniparental disomy of chromosome 4 syndrome

ORPHA:96180Порок

Maternal uniparental disomy of chromosome 6 syndrome

ORPHA:96181Порок

Maternal uniparental disomy of chromosome 9 syndrome

ORPHA:96183Порок

Maternal uniparental disomy of chromosome X syndrome

ORPHA:261519Порок