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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

Oculo-auriculo-vertebral spectrum

ORPHA:141132Порок
Not applicable

Oculo-palato-cerebral syndrome

ORPHA:2714Порок
Autosomal recessive

Oculoauricular syndrome, Schorderet type

ORPHA:157962Порок
Autosomal recessive

Oculoauriculofrontonasal syndrome

ORPHA:398156Порок
Unknown

Oculoauriculovertebral spectrum with radial defects

ORPHA:2549Порок

Oculocerebral hypopigmentation syndrome, Cross type

ORPHA:2719Порок

Oculocerebral hypopigmentation syndrome, Preus type

ORPHA:2720Порок

Oculocerebrocutaneous syndrome

ORPHA:1647Порок
Not applicable

Oculocerebrofacial syndrome, Kaufman type

ORPHA:2707Порок
Autosomal recessive

Oculocerebrorenal syndrome of Lowe

ORPHA:534Порок
X-linked recessive

Oculodental syndrome, Rutherfurd type

ORPHA:2709Порок
Autosomal dominant

Oculodentodigital dysplasia

ORPHA:2710Порок
Autosomal dominant, Autosomal recessive

Oculoectodermal syndrome

ORPHA:3339Порок
Not applicable

Oculofaciocardiodental syndrome

ORPHA:2712Порок
X-linked dominant

Oculogastrointestinal-neurodevelopmental syndrome

ORPHA:611201Порок
Autosomal recessive

Oculomaxillofacial dysostosis

ORPHA:1794Порок

Oculoosteocutaneous syndrome

ORPHA:2713Порок
Autosomal recessive

Oculootodental syndrome

ORPHA:99806Порок

Oculotrichoanal syndrome

ORPHA:2717Порок
Autosomal recessive

Oculotrichodysplasia

ORPHA:2718Порок
Autosomal recessive

Odonto-onycho dysplasia-alopecia syndrome

ORPHA:2722Порок

Odonto-tricho-ungual-digito-palmar syndrome

ORPHA:69082Порок
Autosomal dominant

Odontochondrodysplasia

ORPHA:166272Порок
Autosomal recessive

Odontomatosis-aortae esophagus stenosis syndrome

ORPHA:2724Порок