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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Oculo-auriculo-vertebral spectrum

ORPHA:141132Malform.
Not applicable

Oculo-palato-cerebral syndrome

ORPHA:2714Malform.
Autosomal recessive

Oculoauricular syndrome, Schorderet type

ORPHA:157962Malform.
Autosomal recessive

Oculoauriculofrontonasal syndrome

ORPHA:398156Malform.
Unknown

Oculoauriculovertebral spectrum with radial defects

ORPHA:2549Malform.

Oculocerebral hypopigmentation syndrome, Cross type

ORPHA:2719Malform.

Oculocerebral hypopigmentation syndrome, Preus type

ORPHA:2720Malform.

Oculocerebrocutaneous syndrome

ORPHA:1647Malform.
Not applicable

Oculocerebrofacial syndrome, Kaufman type

ORPHA:2707Malform.
Autosomal recessive

Oculocerebrorenal syndrome of Lowe

ORPHA:534Malform.
X-linked recessive

Oculodental syndrome, Rutherfurd type

ORPHA:2709Malform.
Autosomal dominant

Oculodentodigital dysplasia

ORPHA:2710Malform.
Autosomal dominant, Autosomal recessive

Oculoectodermal syndrome

ORPHA:3339Malform.
Not applicable

Oculofaciocardiodental syndrome

ORPHA:2712Malform.
X-linked dominant

Oculogastrointestinal-neurodevelopmental syndrome

ORPHA:611201Malform.
Autosomal recessive

Oculomaxillofacial dysostosis

ORPHA:1794Malform.

Oculoosteocutaneous syndrome

ORPHA:2713Malform.
Autosomal recessive

Oculootodental syndrome

ORPHA:99806Malform.

Oculotrichoanal syndrome

ORPHA:2717Malform.
Autosomal recessive

Oculotrichodysplasia

ORPHA:2718Malform.
Autosomal recessive

Odonto-onycho dysplasia-alopecia syndrome

ORPHA:2722Malform.

Odonto-tricho-ungual-digito-palmar syndrome

ORPHA:69082Malform.
Autosomal dominant

Odontochondrodysplasia

ORPHA:166272Malform.
Autosomal recessive

Odontomatosis-aortae esophagus stenosis syndrome

ORPHA:2724Malform.