MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 1,772 заболеваний (Мальформация)Сбросить

Conductive deafness-ptosis-skeletal anomalies syndrome

ORPHA:3236Мальформация

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

ORPHA:514352Мальформация

Congenital cataract microcornea with corneal opacity

ORPHA:289499Мальформация
Autosomal recessive

Congenital cataract-anterior segment dysgenesis syndrome

ORPHA:162Мальформация
Autosomal dominant

Congenital cataracts-facial dysmorphism-neuropathy syndrome

ORPHA:48431Мальформация
Autosomal recessive

Congenital contractural arachnodactyly

ORPHA:115Мальформация
Autosomal dominant

Congenital ectropion uveae

ORPHA:91491Мальформация

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

ORPHA:708019Мальформация
Autosomal dominant

Congenital heart defect-round face-developmental delay syndrome

ORPHA:1355Мальформация

Congenital hydrocephalus

ORPHA:2185Мальформация
Not applicable

Congenital intrahepatic arterioportal fistula

ORPHA:694228Мальформация
Not applicable

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

ORPHA:495875Мальформация
Autosomal recessive

Congenital laryngeal palsy

ORPHA:137932Мальформация

Congenital laryngomalacia

ORPHA:2373Мальформация

Congenital left ventricular aneurysm

ORPHA:1055Мальформация

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

ORPHA:562528Мальформация
Autosomal dominant

Congenital macroglossia

ORPHA:2430Мальформация

Congenital microcoria

ORPHA:566Мальформация
Autosomal dominant

Congenital muscular dystrophy, Fukuyama type

ORPHA:272Мальформация
Autosomal recessive

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

ORPHA:2772Мальформация
Autosomal recessive

Congenital primary aphakia

ORPHA:83461Мальформация
Autosomal recessive

Congenital pulmonary airway malformation

ORPHA:2444Мальформация
Not applicable

Congenital pulmonary sequestration

ORPHA:3161Мальформация

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

ORPHA:697356Мальформация
Autosomal dominant