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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Mammary-digital-nail syndrome

ORPHA:238744Malform.
Autosomal dominant

Mandibuloacral dysplasia

ORPHA:2457Malform.
Autosomal recessive

Mandibuloacral dysplasia associated to MTX2

ORPHA:647667Malform.
Autosomal recessive

Mandibulofacial dysostosis with alopecia

ORPHA:443995Malform.
Autosomal dominant, Not applicable

Mandibulofacial dysostosis-microcephaly syndrome

ORPHA:79113Malform.
Autosomal dominant

Marden-Walker syndrome

ORPHA:2461Malform.
Autosomal recessive

Marfanoid habitus-autosomal recessive intellectual disability syndrome

ORPHA:2463Malform.
Autosomal recessive

Marfanoid habitus-inguinal hernia-advanced bone age syndrome

ORPHA:314041Malform.

Marfanoid syndrome, De Silva type

ORPHA:2464Malform.

Marshall syndrome

ORPHA:560Malform.
Autosomal dominant, Autosomal recessive

Marshall-Smith syndrome

ORPHA:561Malform.
Autosomal dominant

Maternal hyperthermia-induced birth defects

ORPHA:2216Malform.

Maternal phenylketonuria syndrome

ORPHA:2209Malform.
Autosomal recessive

Maternal uniparental disomy of chromosome 1 syndrome

ORPHA:251009Malform.
Not applicable, Unknown

Maternal uniparental disomy of chromosome 13 syndrome

ORPHA:97678Malform.

Maternal uniparental disomy of chromosome 16 syndrome

ORPHA:96185Malform.

Maternal uniparental disomy of chromosome 2 syndrome

ORPHA:96179Malform.

Maternal uniparental disomy of chromosome 20 syndrome

ORPHA:96186Malform.

Maternal uniparental disomy of chromosome 21 syndrome

ORPHA:96187Malform.

Maternal uniparental disomy of chromosome 22 syndrome

ORPHA:96188Malform.

Maternal uniparental disomy of chromosome 4 syndrome

ORPHA:96180Malform.

Maternal uniparental disomy of chromosome 6 syndrome

ORPHA:96181Malform.

Maternal uniparental disomy of chromosome 9 syndrome

ORPHA:96183Malform.

Maternal uniparental disomy of chromosome X syndrome

ORPHA:261519Malform.