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

Luscan-Lumish syndrome

ORPHA:597738Malf.
Autosomal dominant

Lymphedema-atrial septal defects-facial changes syndrome

ORPHA:86915Malf.
Autosomal recessive

Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome

ORPHA:86914Malf.

Lymphedema-distichiasis syndrome

ORPHA:33001Malf.
Autosomal dominant

Lymphedema-posterior choanal atresia syndrome

ORPHA:99141Malf.
Autosomal recessive

Léri-Weill dyschondrosteosis

ORPHA:240Malf.
Autosomal dominant

MEHMO syndrome

ORPHA:85282Malf.
X-linked recessive

MEND syndrome

ORPHA:401973Malf.
X-linked recessive

MEPAN syndrome

ORPHA:508093Malf.
Autosomal recessive

MIR140-related spondyloepiphyseal dysplasia

ORPHA:623695Malf.

MMEP syndrome

ORPHA:3434Malf.

MOMO syndrome

ORPHA:2563Malf.
Autosomal recessive

Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome

ORPHA:662175Malf.
Autosomal dominant

Macrocephaly-developmental delay syndrome

ORPHA:397612Malf.
Autosomal recessive

Macrocephaly-intellectual disability-left ventricular non compaction syndrome

ORPHA:466791Malf.
X-linked recessive

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

ORPHA:457485Malf.
Autosomal dominant

Macrocephaly-short stature-paraplegia syndrome

ORPHA:2427Malf.
Unknown

Macrocephaly-spastic paraplegia-dysmorphism syndrome

ORPHA:2429Malf.
Autosomal recessive

Macrocystic lymphatic malformation

ORPHA:79489Malf.
Not applicable

Macrosomia-microphthalmia-cleft palate syndrome

ORPHA:2432Malf.

Macrostomia-preauricular tags-external ophthalmoplegia syndrome

ORPHA:83619Malf.
Autosomal dominant

Macular coloboma-cleft palate-hallux valgus syndrome

ORPHA:91494Malf.
Autosomal recessive

Malan overgrowth syndrome

ORPHA:420179Malf.
Autosomal dominant, Unknown

Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

ORPHA:2234Malf.
Unknown