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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Acro-renal-mandibular syndrome

ORPHA:958Порок
Autosomal recessive

Acro-renal-ocular syndrome

ORPHA:959Порок
Autosomal dominant

Acrocallosal syndrome

ORPHA:36Порок
Autosomal recessive

Acrocapitofemoral dysplasia

ORPHA:63446Порок
Autosomal recessive

Acrocardiofacial syndrome

ORPHA:2008Порок
Autosomal recessive

Acrocephalopolydactyly

ORPHA:221054Порок
Autosomal recessive

Acrocraniofacial dysostosis

ORPHA:949Порок
Autosomal recessive

Acrodermatitis continua of Hallopeau

ORPHA:163931Заболевание
Autosomal recessive

Acrodermatitis enteropathica

ORPHA:37Заболевание
Autosomal recessive

Acrodysostosis

ORPHA:950Порок
Autosomal dominant

Acrodysplasia scoliosis

ORPHA:2956Порок

Acrofacial dysostosis, Catania type

ORPHA:1786Порок
Autosomal dominant, X-linked dominant

Acrofacial dysostosis, Kennedy-Teebi type

ORPHA:64542Порок
Autosomal recessive

Acrofacial dysostosis, Palagonia type

ORPHA:1787Порок
Unknown

Acrofacial dysostosis, Rodríguez type

ORPHA:1788Порок
Autosomal dominant, Autosomal recessive

Acrofacial dysostosis, Weyers type

ORPHA:952Порок
Autosomal dominant

Acrofrontofacionasal dysostosis

ORPHA:1784Порок
Autosomal recessive

Acrogeria

ORPHA:2500Порок
Unknown

Acrokeratoelastoidosis of Costa

ORPHA:38Заболевание
Autosomal dominant, Not applicable

Acrokeratosis verruciformis of Hopf

ORPHA:79151Заболевание
Autosomal dominant

Acromegaly

ORPHA:963Заболевание
Not applicable

Acromelanosis

ORPHA:39Заболевание
Unknown

Acromelic frontonasal dysplasia

ORPHA:1827Порок
Autosomal dominant

Acromesomelic dysplasia, Grebe type

ORPHA:2098Порок
Autosomal recessive