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

Odontomicronychial dysplasia

ORPHA:1811Malf.
Autosomal recessive

Odontotrichomelic syndrome

ORPHA:2723Malf.
Autosomal recessive

Ogden syndrome

ORPHA:276432Malf.
X-linked dominant, X-linked recessive

Oguchi disease

ORPHA:75382Malf.
Autosomal recessive

Okihiro syndrome

ORPHA:93293Malf.
Autosomal dominant

Okur-Chung neurodevelopmental syndrome

ORPHA:689422Malf.
Autosomal dominant

Oliver syndrome

ORPHA:2920Malf.
Autosomal recessive

Olivopontocerebellar atrophy-deafness syndrome

ORPHA:2732Malf.
Autosomal recessive

Omodysplasia

ORPHA:2733Malf.
Autosomal dominant, Autosomal recessive

Omphalocele syndrome, Shprintzen-Goldberg type

ORPHA:3164Malf.

Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome

ORPHA:496693Malf.

Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome

ORPHA:698090Malf.
Autosomal dominant

Ophthalmomandibulomelic dysplasia

ORPHA:2741Malf.

Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

ORPHA:2743Malf.

Opitz GBBB syndrome

ORPHA:2745Malf.
X-linked recessive

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

ORPHA:660021Malf.

Orofaciodigital syndrome type 1

ORPHA:2750Malf.
Not applicable, X-linked dominant

Orofaciodigital syndrome type 11

ORPHA:141000Malf.
Not applicable

Orofaciodigital syndrome type 14

ORPHA:434179Malf.
Autosomal recessive

Orofaciodigital syndrome type 18

ORPHA:508501Malf.
Autosomal recessive

Orofaciodigital syndrome type 2

ORPHA:2751Malf.
Autosomal recessive

Orofaciodigital syndrome type 4

ORPHA:2753Malf.
Autosomal recessive

Orofaciodigital syndrome type 5

ORPHA:2919Malf.
Autosomal recessive

Orofaciodigital syndrome type 6

ORPHA:2754Malf.
Autosomal recessive, X-linked recessive