MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Oculofaciocardiodental syndrome

ORPHA:2712Malf.
X-linked dominant

Oculogastrointestinal muscular dystrophy

ORPHA:1876Kr.
Autosomal recessive

Oculogastrointestinal-neurodevelopmental syndrome

ORPHA:611201Malf.
Autosomal recessive

Oculomaxillofacial dysostosis

ORPHA:1794Malf.

Oculoosteocutaneous syndrome

ORPHA:2713Malf.
Autosomal recessive

Oculootodental syndrome

ORPHA:99806Malf.

Oculopharyngeal muscular dystrophy

ORPHA:270Kr.
Autosomal dominant, Autosomal recessive

Oculopharyngodistal myopathy

ORPHA:98897Kr.
Autosomal dominant, Autosomal recessive

Oculoskeletodental syndrome

ORPHA:557003Kr.
Autosomal recessive

Oculotrichoanal syndrome

ORPHA:2717Malf.
Autosomal recessive

Oculotrichodysplasia

ORPHA:2718Malf.
Autosomal recessive

Odonto-onycho dysplasia-alopecia syndrome

ORPHA:2722Malf.

Odonto-onycho-dermal dysplasia

ORPHA:2721Kr.
Autosomal recessive

Odonto-tricho-ungual-digito-palmar syndrome

ORPHA:69082Malf.
Autosomal dominant

Odontochondrodysplasia

ORPHA:166272Malf.
Autosomal recessive

Odontohypophosphatasia

ORPHA:247685Kl. subt.
Autosomal dominant, Autosomal recessive

Odontoleukodystrophy

ORPHA:77295Kl. subt.
Autosomal recessive

Odontomatosis-aortae esophagus stenosis syndrome

ORPHA:2724Malf.

Odontomicronychial dysplasia

ORPHA:1811Malf.
Autosomal recessive

Odontotrichomelic syndrome

ORPHA:2723Malf.
Autosomal recessive

Off-periods in Parkinson disease not responding to oral treatment

ORPHA:391655spez. Sit.
Not applicable

Ogden syndrome

ORPHA:276432Malf.
X-linked dominant, X-linked recessive

Oguchi disease

ORPHA:75382Malf.
Autosomal recessive

Okihiro syndrome

ORPHA:93293Malf.
Autosomal dominant