MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Oculo-auriculo-vertebral spectrum

ORPHA:141132Malf.
Not applicable

Oculo-palato-cerebral syndrome

ORPHA:2714Malf.
Autosomal recessive

Oculoauricular syndrome, Schorderet type

ORPHA:157962Malf.
Autosomal recessive

Oculoauriculofrontonasal syndrome

ORPHA:398156Malf.
Unknown

Oculoauriculovertebral spectrum with radial defects

ORPHA:2549Malf.

Oculocerebral hypopigmentation syndrome, Cross type

ORPHA:2719Malf.

Oculocerebral hypopigmentation syndrome, Preus type

ORPHA:2720Malf.

Oculocerebrocutaneous syndrome

ORPHA:1647Malf.
Not applicable

Oculocerebrofacial syndrome, Kaufman type

ORPHA:2707Malf.
Autosomal recessive

Oculocerebrorenal syndrome of Lowe

ORPHA:534Malf.
X-linked recessive

Oculocutaneous albinism

ORPHA:55Kl. gruppe
Autosomal recessive

Oculocutaneous albinism type 1

ORPHA:352731Kr.
Autosomal recessive

Oculocutaneous albinism type 1A

ORPHA:79431Kl. subt.
Autosomal recessive

Oculocutaneous albinism type 1B

ORPHA:79434Kl. subt.
Autosomal recessive

Oculocutaneous albinism type 2

ORPHA:79432Kr.
Autosomal recessive

Oculocutaneous albinism type 3

ORPHA:79433Kr.
Autosomal recessive

Oculocutaneous albinism type 4

ORPHA:79435Kr.
Autosomal recessive

Oculocutaneous albinism type 5

ORPHA:370091Kr.
Autosomal recessive

Oculocutaneous albinism type 6

ORPHA:370097Kr.
Autosomal recessive

Oculocutaneous albinism type 7

ORPHA:352745Kr.
Autosomal recessive

Oculocutaneous albinism type 8

ORPHA:597733Kr.
Autosomal recessive

Oculodental syndrome, Rutherfurd type

ORPHA:2709Malf.
Autosomal dominant

Oculodentodigital dysplasia

ORPHA:2710Malf.
Autosomal dominant, Autosomal recessive

Oculoectodermal syndrome

ORPHA:3339Malf.
Not applicable