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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Orofaciodigital syndrome type 6

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

Orofaciodigital syndrome type 8

ORPHA:2755Malform.
X-linked recessive

Orofaciodigital syndrome type 9

ORPHA:141007Malform.
Autosomal recessive

Oromandibular dystonia

ORPHA:93958Disease

Oromandibular-limb hypogenesis syndrome

ORPHA:2749Clin. grp.

Osgood-Schlatter disease

ORPHA:97335Disease
Not applicable

Ossification anomalies-psychomotor developmental delay syndrome

ORPHA:73230Disease

Osteochondritis dissecans

ORPHA:2764Disease
Not applicable

Osteochondrosis of the metatarsal bone

ORPHA:564003Disease

Osteochondrosis of the tarsal bone

ORPHA:563991Disease

Osteocraniostenosis

ORPHA:2763Malform.
Autosomal dominant

Osteofibrous dysplasia

ORPHA:488265Disease
Autosomal dominant

Osteogenesis imperfecta

ORPHA:666Disease
Autosomal dominant, Autosomal recessive, X-linked recessive

Osteogenesis imperfecta type 1

ORPHA:216796Clin. sub.
Autosomal dominant

Osteogenesis imperfecta type 2

ORPHA:216804Clin. sub.
Autosomal dominant, Autosomal recessive

Osteogenesis imperfecta type 3

ORPHA:216812Clin. sub.
Autosomal dominant, Autosomal recessive, X-linked recessive

Osteogenesis imperfecta type 4

ORPHA:216820Clin. sub.
Autosomal dominant, Autosomal recessive, X-linked recessive

Osteogenesis imperfecta type 5

ORPHA:216828Clin. sub.
Autosomal dominant, Autosomal recessive

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

ORPHA:2773Malform.
Unknown

Osteoglosphonic dysplasia

ORPHA:2645Malform.
Autosomal dominant

Osteomesopyknosis

ORPHA:2777Malform.
Autosomal dominant

Osteopathia striata-cranial sclerosis syndrome

ORPHA:2780Malform.
X-linked dominant

Osteopathia striata-pigmentary dermopathy-white forelock syndrome

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

Osteopenia-intellectual disability-sparse hair syndrome

ORPHA:2324Malform.
Autosomal recessive