MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

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

Oculocutaneous albinism

ORPHA:55Clin. grp.
Autosomal recessive

Oculocutaneous albinism type 1

ORPHA:352731Disease
Autosomal recessive

Oculocutaneous albinism type 1A

ORPHA:79431Clin. sub.
Autosomal recessive

Oculocutaneous albinism type 1B

ORPHA:79434Clin. sub.
Autosomal recessive

Oculocutaneous albinism type 2

ORPHA:79432Disease
Autosomal recessive

Oculocutaneous albinism type 3

ORPHA:79433Disease
Autosomal recessive

Oculocutaneous albinism type 4

ORPHA:79435Disease
Autosomal recessive

Oculocutaneous albinism type 5

ORPHA:370091Disease
Autosomal recessive

Oculocutaneous albinism type 6

ORPHA:370097Disease
Autosomal recessive

Oculocutaneous albinism type 7

ORPHA:352745Disease
Autosomal recessive

Oculocutaneous albinism type 8

ORPHA:597733Disease
Autosomal recessive

Oculodental syndrome, Rutherfurd type

ORPHA:2709Malform.
Autosomal dominant

Oculodentodigital dysplasia

ORPHA:2710Malform.
Autosomal dominant, Autosomal recessive

Oculoectodermal syndrome

ORPHA:3339Malform.
Not applicable