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Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 1,772 заболеваний (Мальф.) Қалпына келтіру

Conductive deafness-ptosis-skeletal anomalies syndrome

ORPHA:3236Мальф.

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

ORPHA:514352Мальф.

Congenital cataract microcornea with corneal opacity

ORPHA:289499Мальф.
Autosomal recessive

Congenital cataract-anterior segment dysgenesis syndrome

ORPHA:162Мальф.
Autosomal dominant

Congenital cataracts-facial dysmorphism-neuropathy syndrome

ORPHA:48431Мальф.
Autosomal recessive

Congenital contractural arachnodactyly

ORPHA:115Мальф.
Autosomal dominant

Congenital ectropion uveae

ORPHA:91491Мальф.

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

ORPHA:708019Мальф.
Autosomal dominant

Congenital heart defect-round face-developmental delay syndrome

ORPHA:1355Мальф.

Congenital hydrocephalus

ORPHA:2185Мальф.
Not applicable

Congenital intrahepatic arterioportal fistula

ORPHA:694228Мальф.
Not applicable

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

ORPHA:495875Мальф.
Autosomal recessive

Congenital laryngeal palsy

ORPHA:137932Мальф.

Congenital laryngomalacia

ORPHA:2373Мальф.

Congenital left ventricular aneurysm

ORPHA:1055Мальф.

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

ORPHA:562528Мальф.
Autosomal dominant

Congenital macroglossia

ORPHA:2430Мальф.

Congenital microcoria

ORPHA:566Мальф.
Autosomal dominant

Congenital muscular dystrophy, Fukuyama type

ORPHA:272Мальф.
Autosomal recessive

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

ORPHA:2772Мальф.
Autosomal recessive

Congenital primary aphakia

ORPHA:83461Мальф.
Autosomal recessive

Congenital pulmonary airway malformation

ORPHA:2444Мальф.
Not applicable

Congenital pulmonary sequestration

ORPHA:3161Мальф.

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

ORPHA:697356Мальф.
Autosomal dominant