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

Cantú syndrome

ORPHA:1517Мальформация
Autosomal dominant, Not applicable

Cardiac anomalies-heterotaxy syndrome

ORPHA:137628Мальформация
Autosomal dominant

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

ORPHA:228410Мальформация
Autosomal dominant

Cardiocranial syndrome, Pfeiffer type

ORPHA:2872Мальформация
Autosomal dominant, Autosomal recessive, Not applicable

Cardiofaciocutaneous syndrome

ORPHA:1340Мальформация
Autosomal dominant

Cardiospondylocarpofacial syndrome

ORPHA:3238Мальформация
Autosomal dominant

Carey-Fineman-Ziter syndrome

ORPHA:1358Мальформация
Autosomal recessive

Caroli disease

ORPHA:53035Мальформация
Autosomal recessive, Not applicable

Caroli syndrome

ORPHA:480520Мальформация
Autosomal recessive

Carpenter syndrome

ORPHA:65759Мальформация
Autosomal recessive

Carpotarsal osteochondromatosis

ORPHA:2767Мальформация
Autosomal dominant

Cat-eye syndrome

ORPHA:195Мальформация
Not applicable

Cataract-aberrant oral frenula-growth delay syndrome

ORPHA:1373Мальформация

Cataract-congenital heart disease-neural tube defect syndrome

ORPHA:314993Мальформация

Cataract-deafness-hypogonadism syndrome

ORPHA:1383Мальформация
Autosomal recessive

Cataract-hypertrichosis-intellectual disability syndrome

ORPHA:1375Мальформация
Autosomal recessive

Cataract-intellectual disability-hypogonadism syndrome

ORPHA:1387Мальформация
Autosomal recessive

Cataract-microcornea syndrome

ORPHA:1377Мальформация
Autosomal dominant, Autosomal recessive

Cataract-nephropathy-encephalopathy syndrome

ORPHA:1380Мальформация
Autosomal recessive

Catel-Manzke syndrome

ORPHA:1388Мальформация
Autosomal recessive

Caudal appendage-deafness syndrome

ORPHA:1123Мальформация

Caudal duplication

ORPHA:1756Мальформация
Not applicable

Caudal regression syndrome

ORPHA:3027Мальформация
Multigenic/multifactorial, Not applicable

Cenani-Lenz syndrome

ORPHA:3258Мальформация
Autosomal recessive