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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Oculofaciocardiodental syndrome

ORPHA:2712Порок
X-linked dominant

Oculogastrointestinal muscular dystrophy

ORPHA:1876Заболевание
Autosomal recessive

Oculogastrointestinal-neurodevelopmental syndrome

ORPHA:611201Порок
Autosomal recessive

Oculomaxillofacial dysostosis

ORPHA:1794Порок

Oculoosteocutaneous syndrome

ORPHA:2713Порок
Autosomal recessive

Oculootodental syndrome

ORPHA:99806Порок

Oculopharyngeal muscular dystrophy

ORPHA:270Заболевание
Autosomal dominant, Autosomal recessive

Oculopharyngodistal myopathy

ORPHA:98897Заболевание
Autosomal dominant, Autosomal recessive

Oculoskeletodental syndrome

ORPHA:557003Заболевание
Autosomal recessive

Oculotrichoanal syndrome

ORPHA:2717Порок
Autosomal recessive

Oculotrichodysplasia

ORPHA:2718Порок
Autosomal recessive

Odonto-onycho dysplasia-alopecia syndrome

ORPHA:2722Порок

Odonto-onycho-dermal dysplasia

ORPHA:2721Заболевание
Autosomal recessive

Odonto-tricho-ungual-digito-palmar syndrome

ORPHA:69082Порок
Autosomal dominant

Odontochondrodysplasia

ORPHA:166272Порок
Autosomal recessive

Odontohypophosphatasia

ORPHA:247685Клин. подт.
Autosomal dominant, Autosomal recessive

Odontoleukodystrophy

ORPHA:77295Клин. подт.
Autosomal recessive

Odontomatosis-aortae esophagus stenosis syndrome

ORPHA:2724Порок

Odontomicronychial dysplasia

ORPHA:1811Порок
Autosomal recessive

Odontotrichomelic syndrome

ORPHA:2723Порок
Autosomal recessive

Off-periods in Parkinson disease not responding to oral treatment

ORPHA:391655Ситуация
Not applicable

Ogden syndrome

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

Oguchi disease

ORPHA:75382Порок
Autosomal recessive

Okihiro syndrome

ORPHA:93293Порок
Autosomal dominant