MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Orofaciodigital syndrome type 6

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

Orofaciodigital syndrome type 8

ORPHA:2755Malf.
X-linked recessive

Orofaciodigital syndrome type 9

ORPHA:141007Malf.
Autosomal recessive

Oromandibular dystonia

ORPHA:93958Kr.

Oromandibular-limb hypogenesis syndrome

ORPHA:2749Kl. gruppe

Osgood-Schlatter disease

ORPHA:97335Kr.
Not applicable

Ossification anomalies-psychomotor developmental delay syndrome

ORPHA:73230Kr.

Osteochondritis dissecans

ORPHA:2764Kr.
Not applicable

Osteochondrosis of the metatarsal bone

ORPHA:564003Kr.

Osteochondrosis of the tarsal bone

ORPHA:563991Kr.

Osteocraniostenosis

ORPHA:2763Malf.
Autosomal dominant

Osteofibrous dysplasia

ORPHA:488265Kr.
Autosomal dominant

Osteogenesis imperfecta

ORPHA:666Kr.
Autosomal dominant, Autosomal recessive, X-linked recessive

Osteogenesis imperfecta type 1

ORPHA:216796Kl. subt.
Autosomal dominant

Osteogenesis imperfecta type 2

ORPHA:216804Kl. subt.
Autosomal dominant, Autosomal recessive

Osteogenesis imperfecta type 3

ORPHA:216812Kl. subt.
Autosomal dominant, Autosomal recessive, X-linked recessive

Osteogenesis imperfecta type 4

ORPHA:216820Kl. subt.
Autosomal dominant, Autosomal recessive, X-linked recessive

Osteogenesis imperfecta type 5

ORPHA:216828Kl. subt.
Autosomal dominant, Autosomal recessive

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

ORPHA:2773Malf.
Unknown

Osteoglosphonic dysplasia

ORPHA:2645Malf.
Autosomal dominant

Osteomesopyknosis

ORPHA:2777Malf.
Autosomal dominant

Osteopathia striata-cranial sclerosis syndrome

ORPHA:2780Malf.
X-linked dominant

Osteopathia striata-pigmentary dermopathy-white forelock syndrome

ORPHA:2779Malf.
Autosomal dominant, X-linked dominant

Osteopenia-intellectual disability-sparse hair syndrome

ORPHA:2324Malf.
Autosomal recessive