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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

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

Oculocutaneous albinism

ORPHA:55Клин. гр.
Autosomal recessive

Oculocutaneous albinism type 1

ORPHA:352731Заболевание
Autosomal recessive

Oculocutaneous albinism type 1A

ORPHA:79431Клин. подт.
Autosomal recessive

Oculocutaneous albinism type 1B

ORPHA:79434Клин. подт.
Autosomal recessive

Oculocutaneous albinism type 2

ORPHA:79432Заболевание
Autosomal recessive

Oculocutaneous albinism type 3

ORPHA:79433Заболевание
Autosomal recessive

Oculocutaneous albinism type 4

ORPHA:79435Заболевание
Autosomal recessive

Oculocutaneous albinism type 5

ORPHA:370091Заболевание
Autosomal recessive

Oculocutaneous albinism type 6

ORPHA:370097Заболевание
Autosomal recessive

Oculocutaneous albinism type 7

ORPHA:352745Заболевание
Autosomal recessive

Oculocutaneous albinism type 8

ORPHA:597733Заболевание
Autosomal recessive

Oculodental syndrome, Rutherfurd type

ORPHA:2709Порок
Autosomal dominant

Oculodentodigital dysplasia

ORPHA:2710Порок
Autosomal dominant, Autosomal recessive

Oculoectodermal syndrome

ORPHA:3339Порок
Not applicable