MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 1,772 заболеваний (Мальф.) Қалпына келтіру

Mammary-digital-nail syndrome

ORPHA:238744Мальф.
Autosomal dominant

Mandibuloacral dysplasia

ORPHA:2457Мальф.
Autosomal recessive

Mandibuloacral dysplasia associated to MTX2

ORPHA:647667Мальф.
Autosomal recessive

Mandibulofacial dysostosis with alopecia

ORPHA:443995Мальф.
Autosomal dominant, Not applicable

Mandibulofacial dysostosis-microcephaly syndrome

ORPHA:79113Мальф.
Autosomal dominant

Marden-Walker syndrome

ORPHA:2461Мальф.
Autosomal recessive

Marfanoid habitus-autosomal recessive intellectual disability syndrome

ORPHA:2463Мальф.
Autosomal recessive

Marfanoid habitus-inguinal hernia-advanced bone age syndrome

ORPHA:314041Мальф.

Marfanoid syndrome, De Silva type

ORPHA:2464Мальф.

Marshall syndrome

ORPHA:560Мальф.
Autosomal dominant, Autosomal recessive

Marshall-Smith syndrome

ORPHA:561Мальф.
Autosomal dominant

Maternal hyperthermia-induced birth defects

ORPHA:2216Мальф.

Maternal phenylketonuria syndrome

ORPHA:2209Мальф.
Autosomal recessive

Maternal uniparental disomy of chromosome 1 syndrome

ORPHA:251009Мальф.
Not applicable, Unknown

Maternal uniparental disomy of chromosome 13 syndrome

ORPHA:97678Мальф.

Maternal uniparental disomy of chromosome 16 syndrome

ORPHA:96185Мальф.

Maternal uniparental disomy of chromosome 2 syndrome

ORPHA:96179Мальф.

Maternal uniparental disomy of chromosome 20 syndrome

ORPHA:96186Мальф.

Maternal uniparental disomy of chromosome 21 syndrome

ORPHA:96187Мальф.

Maternal uniparental disomy of chromosome 22 syndrome

ORPHA:96188Мальф.

Maternal uniparental disomy of chromosome 4 syndrome

ORPHA:96180Мальф.

Maternal uniparental disomy of chromosome 6 syndrome

ORPHA:96181Мальф.

Maternal uniparental disomy of chromosome 9 syndrome

ORPHA:96183Мальф.

Maternal uniparental disomy of chromosome X syndrome

ORPHA:261519Мальф.