MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Mammary-digital-nail syndrome

ORPHA:238744Malf.
Autosomal dominant

Mandibuloacral dysplasia

ORPHA:2457Malf.
Autosomal recessive

Mandibuloacral dysplasia associated to MTX2

ORPHA:647667Malf.
Autosomal recessive

Mandibulofacial dysostosis with alopecia

ORPHA:443995Malf.
Autosomal dominant, Not applicable

Mandibulofacial dysostosis-microcephaly syndrome

ORPHA:79113Malf.
Autosomal dominant

Marden-Walker syndrome

ORPHA:2461Malf.
Autosomal recessive

Marfanoid habitus-autosomal recessive intellectual disability syndrome

ORPHA:2463Malf.
Autosomal recessive

Marfanoid habitus-inguinal hernia-advanced bone age syndrome

ORPHA:314041Malf.

Marfanoid syndrome, De Silva type

ORPHA:2464Malf.

Marshall syndrome

ORPHA:560Malf.
Autosomal dominant, Autosomal recessive

Marshall-Smith syndrome

ORPHA:561Malf.
Autosomal dominant

Maternal hyperthermia-induced birth defects

ORPHA:2216Malf.

Maternal phenylketonuria syndrome

ORPHA:2209Malf.
Autosomal recessive

Maternal uniparental disomy of chromosome 1 syndrome

ORPHA:251009Malf.
Not applicable, Unknown

Maternal uniparental disomy of chromosome 13 syndrome

ORPHA:97678Malf.

Maternal uniparental disomy of chromosome 16 syndrome

ORPHA:96185Malf.

Maternal uniparental disomy of chromosome 2 syndrome

ORPHA:96179Malf.

Maternal uniparental disomy of chromosome 20 syndrome

ORPHA:96186Malf.

Maternal uniparental disomy of chromosome 21 syndrome

ORPHA:96187Malf.

Maternal uniparental disomy of chromosome 22 syndrome

ORPHA:96188Malf.

Maternal uniparental disomy of chromosome 4 syndrome

ORPHA:96180Malf.

Maternal uniparental disomy of chromosome 6 syndrome

ORPHA:96181Malf.

Maternal uniparental disomy of chromosome 9 syndrome

ORPHA:96183Malf.

Maternal uniparental disomy of chromosome X syndrome

ORPHA:261519Malf.