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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

Odontomicronychial dysplasia

ORPHA:1811Порок
Autosomal recessive

Odontotrichomelic syndrome

ORPHA:2723Порок
Autosomal recessive

Ogden syndrome

ORPHA:276432Порок
X-linked dominant, X-linked recessive

Oguchi disease

ORPHA:75382Порок
Autosomal recessive

Okihiro syndrome

ORPHA:93293Порок
Autosomal dominant

Okur-Chung neurodevelopmental syndrome

ORPHA:689422Порок
Autosomal dominant

Oliver syndrome

ORPHA:2920Порок
Autosomal recessive

Olivopontocerebellar atrophy-deafness syndrome

ORPHA:2732Порок
Autosomal recessive

Omodysplasia

ORPHA:2733Порок
Autosomal dominant, Autosomal recessive

Omphalocele syndrome, Shprintzen-Goldberg type

ORPHA:3164Порок

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

ORPHA:496693Порок

Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome

ORPHA:698090Порок
Autosomal dominant

Ophthalmomandibulomelic dysplasia

ORPHA:2741Порок

Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

ORPHA:2743Порок

Opitz GBBB syndrome

ORPHA:2745Порок
X-linked recessive

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

ORPHA:660021Порок

Orofaciodigital syndrome type 1

ORPHA:2750Порок
Not applicable, X-linked dominant

Orofaciodigital syndrome type 11

ORPHA:141000Порок
Not applicable

Orofaciodigital syndrome type 14

ORPHA:434179Порок
Autosomal recessive

Orofaciodigital syndrome type 18

ORPHA:508501Порок
Autosomal recessive

Orofaciodigital syndrome type 2

ORPHA:2751Порок
Autosomal recessive

Orofaciodigital syndrome type 4

ORPHA:2753Порок
Autosomal recessive

Orofaciodigital syndrome type 5

ORPHA:2919Порок
Autosomal recessive

Orofaciodigital syndrome type 6

ORPHA:2754Порок
Autosomal recessive, X-linked recessive