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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Cantú syndrome

ORPHA:1517Порок
Autosomal dominant, Not applicable

Cardiac anomalies-heterotaxy syndrome

ORPHA:137628Порок
Autosomal dominant

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

ORPHA:228410Порок
Autosomal dominant

Cardiocranial syndrome, Pfeiffer type

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

Cardiofaciocutaneous syndrome

ORPHA:1340Порок
Autosomal dominant

Cardiospondylocarpofacial syndrome

ORPHA:3238Порок
Autosomal dominant

Carey-Fineman-Ziter syndrome

ORPHA:1358Порок
Autosomal recessive

Caroli disease

ORPHA:53035Порок
Autosomal recessive, Not applicable

Caroli syndrome

ORPHA:480520Порок
Autosomal recessive

Carpenter syndrome

ORPHA:65759Порок
Autosomal recessive

Carpotarsal osteochondromatosis

ORPHA:2767Порок
Autosomal dominant

Cat-eye syndrome

ORPHA:195Порок
Not applicable

Cataract-aberrant oral frenula-growth delay syndrome

ORPHA:1373Порок

Cataract-congenital heart disease-neural tube defect syndrome

ORPHA:314993Порок

Cataract-deafness-hypogonadism syndrome

ORPHA:1383Порок
Autosomal recessive

Cataract-hypertrichosis-intellectual disability syndrome

ORPHA:1375Порок
Autosomal recessive

Cataract-intellectual disability-hypogonadism syndrome

ORPHA:1387Порок
Autosomal recessive

Cataract-microcornea syndrome

ORPHA:1377Порок
Autosomal dominant, Autosomal recessive

Cataract-nephropathy-encephalopathy syndrome

ORPHA:1380Порок
Autosomal recessive

Catel-Manzke syndrome

ORPHA:1388Порок
Autosomal recessive

Caudal appendage-deafness syndrome

ORPHA:1123Порок

Caudal duplication

ORPHA:1756Порок
Not applicable

Caudal regression syndrome

ORPHA:3027Порок
Multigenic/multifactorial, Not applicable

Cenani-Lenz syndrome

ORPHA:3258Порок
Autosomal recessive