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

Laryngeal abductor paralysis

ORPHA:2808Malf.

Laryngeal abductor paralysis-intellectual disability syndrome

ORPHA:2375Malf.
X-linked recessive

Laryngocele

ORPHA:2372Malf.

Larynx atresia

ORPHA:1202Malf.
Autosomal dominant

Lateral meningocele syndrome

ORPHA:2789Malf.
Autosomal dominant

Laurence-Moon syndrome

ORPHA:2377Malf.
Autosomal recessive

Laurin-Sandrow syndrome

ORPHA:2378Malf.
Autosomal dominant

Legius syndrome

ORPHA:137605Malf.
Autosomal dominant

Lelis syndrome

ORPHA:140936Malf.
Autosomal recessive

Lenz-Majewski hyperostotic dysplasia

ORPHA:2658Malf.
Autosomal dominant

Leri pleonosteosis

ORPHA:2900Malf.
Autosomal dominant

Lethal Kniest-like dysplasia

ORPHA:2347Malf.
Autosomal recessive

Lethal Larsen-like syndrome

ORPHA:2371Malf.
Autosomal recessive

Lethal brain and heart developmental defects

ORPHA:580933Malf.
Autosomal recessive

Lethal congenital contracture syndrome type 1

ORPHA:1486Malf.
Autosomal recessive

Lethal congenital contracture syndrome type 2

ORPHA:137776Malf.
Autosomal recessive

Lethal congenital contracture syndrome type 3

ORPHA:137783Malf.
Autosomal recessive

Lethal faciocardiomelic dysplasia

ORPHA:1972Malf.
Autosomal recessive

Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

ORPHA:444069Malf.
Autosomal recessive

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

ORPHA:439897Malf.
Autosomal recessive

Lethal hemolytic anemia-genital anomalies syndrome

ORPHA:1046Malf.
Unknown

Lethal hydranencephaly-diaphragmatic hernia syndrome

ORPHA:480528Malf.
Autosomal recessive

Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome

ORPHA:2570Malf.
X-linked recessive

Lethal multiple pterygium syndrome

ORPHA:33108Malf.
Autosomal recessive, X-linked recessive