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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

Conductive deafness-ptosis-skeletal anomalies syndrome

ORPHA:3236Порок

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

ORPHA:514352Порок

Congenital cataract microcornea with corneal opacity

ORPHA:289499Порок
Autosomal recessive

Congenital cataract-anterior segment dysgenesis syndrome

ORPHA:162Порок
Autosomal dominant

Congenital cataracts-facial dysmorphism-neuropathy syndrome

ORPHA:48431Порок
Autosomal recessive

Congenital contractural arachnodactyly

ORPHA:115Порок
Autosomal dominant

Congenital ectropion uveae

ORPHA:91491Порок

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

ORPHA:708019Порок
Autosomal dominant

Congenital heart defect-round face-developmental delay syndrome

ORPHA:1355Порок

Congenital hydrocephalus

ORPHA:2185Порок
Not applicable

Congenital intrahepatic arterioportal fistula

ORPHA:694228Порок
Not applicable

Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome

ORPHA:495875Порок
Autosomal recessive

Congenital laryngeal palsy

ORPHA:137932Порок

Congenital laryngomalacia

ORPHA:2373Порок

Congenital left ventricular aneurysm

ORPHA:1055Порок

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

ORPHA:562528Порок
Autosomal dominant

Congenital macroglossia

ORPHA:2430Порок

Congenital microcoria

ORPHA:566Порок
Autosomal dominant

Congenital muscular dystrophy, Fukuyama type

ORPHA:272Порок
Autosomal recessive

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

ORPHA:2772Порок
Autosomal recessive

Congenital primary aphakia

ORPHA:83461Порок
Autosomal recessive

Congenital pulmonary airway malformation

ORPHA:2444Порок
Not applicable

Congenital pulmonary sequestration

ORPHA:3161Порок

Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome

ORPHA:697356Порок
Autosomal dominant