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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Oculofaciocardiodental syndrome

ORPHA:2712Malform.
X-linked dominant

Oculogastrointestinal muscular dystrophy

ORPHA:1876Disease
Autosomal recessive

Oculogastrointestinal-neurodevelopmental syndrome

ORPHA:611201Malform.
Autosomal recessive

Oculomaxillofacial dysostosis

ORPHA:1794Malform.

Oculoosteocutaneous syndrome

ORPHA:2713Malform.
Autosomal recessive

Oculootodental syndrome

ORPHA:99806Malform.

Oculopharyngeal muscular dystrophy

ORPHA:270Disease
Autosomal dominant, Autosomal recessive

Oculopharyngodistal myopathy

ORPHA:98897Disease
Autosomal dominant, Autosomal recessive

Oculoskeletodental syndrome

ORPHA:557003Disease
Autosomal recessive

Oculotrichoanal syndrome

ORPHA:2717Malform.
Autosomal recessive

Oculotrichodysplasia

ORPHA:2718Malform.
Autosomal recessive

Odonto-onycho dysplasia-alopecia syndrome

ORPHA:2722Malform.

Odonto-onycho-dermal dysplasia

ORPHA:2721Disease
Autosomal recessive

Odonto-tricho-ungual-digito-palmar syndrome

ORPHA:69082Malform.
Autosomal dominant

Odontochondrodysplasia

ORPHA:166272Malform.
Autosomal recessive

Odontohypophosphatasia

ORPHA:247685Clin. sub.
Autosomal dominant, Autosomal recessive

Odontoleukodystrophy

ORPHA:77295Clin. sub.
Autosomal recessive

Odontomatosis-aortae esophagus stenosis syndrome

ORPHA:2724Malform.

Odontomicronychial dysplasia

ORPHA:1811Malform.
Autosomal recessive

Odontotrichomelic syndrome

ORPHA:2723Malform.
Autosomal recessive

Off-periods in Parkinson disease not responding to oral treatment

ORPHA:391655Situation
Not applicable

Ogden syndrome

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

Oguchi disease

ORPHA:75382Malform.
Autosomal recessive

Okihiro syndrome

ORPHA:93293Malform.
Autosomal dominant