MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

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

Oculodental syndrome, Rutherfurd type

ORPHA:2709Malf.
Autosomal dominant

Oculodentodigital dysplasia

ORPHA:2710Malf.
Autosomal dominant, Autosomal recessive

Oculoectodermal syndrome

ORPHA:3339Malf.
Not applicable

Oculofaciocardiodental syndrome

ORPHA:2712Malf.
X-linked dominant

Oculogastrointestinal-neurodevelopmental syndrome

ORPHA:611201Malf.
Autosomal recessive

Oculomaxillofacial dysostosis

ORPHA:1794Malf.

Oculoosteocutaneous syndrome

ORPHA:2713Malf.
Autosomal recessive

Oculootodental syndrome

ORPHA:99806Malf.

Oculotrichoanal syndrome

ORPHA:2717Malf.
Autosomal recessive

Oculotrichodysplasia

ORPHA:2718Malf.
Autosomal recessive

Odonto-onycho dysplasia-alopecia syndrome

ORPHA:2722Malf.

Odonto-tricho-ungual-digito-palmar syndrome

ORPHA:69082Malf.
Autosomal dominant

Odontochondrodysplasia

ORPHA:166272Malf.
Autosomal recessive

Odontomatosis-aortae esophagus stenosis syndrome

ORPHA:2724Malf.