MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
1,772 diseases matched (Malform.) Reset

Laryngeal abductor paralysis

ORPHA:2808Malform.

Laryngeal abductor paralysis-intellectual disability syndrome

ORPHA:2375Malform.
X-linked recessive

Laryngocele

ORPHA:2372Malform.

Larynx atresia

ORPHA:1202Malform.
Autosomal dominant

Lateral meningocele syndrome

ORPHA:2789Malform.
Autosomal dominant

Laurence-Moon syndrome

ORPHA:2377Malform.
Autosomal recessive

Laurin-Sandrow syndrome

ORPHA:2378Malform.
Autosomal dominant

Legius syndrome

ORPHA:137605Malform.
Autosomal dominant

Lelis syndrome

ORPHA:140936Malform.
Autosomal recessive

Lenz-Majewski hyperostotic dysplasia

ORPHA:2658Malform.
Autosomal dominant

Leri pleonosteosis

ORPHA:2900Malform.
Autosomal dominant

Lethal Kniest-like dysplasia

ORPHA:2347Malform.
Autosomal recessive

Lethal Larsen-like syndrome

ORPHA:2371Malform.
Autosomal recessive

Lethal brain and heart developmental defects

ORPHA:580933Malform.
Autosomal recessive

Lethal congenital contracture syndrome type 1

ORPHA:1486Malform.
Autosomal recessive

Lethal congenital contracture syndrome type 2

ORPHA:137776Malform.
Autosomal recessive

Lethal congenital contracture syndrome type 3

ORPHA:137783Malform.
Autosomal recessive

Lethal faciocardiomelic dysplasia

ORPHA:1972Malform.
Autosomal recessive

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

ORPHA:444069Malform.
Autosomal recessive

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

ORPHA:439897Malform.
Autosomal recessive

Lethal hemolytic anemia-genital anomalies syndrome

ORPHA:1046Malform.
Unknown

Lethal hydranencephaly-diaphragmatic hernia syndrome

ORPHA:480528Malform.
Autosomal recessive

Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome

ORPHA:2570Malform.
X-linked recessive

Lethal multiple pterygium syndrome

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