Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Cantú syndrome
Autosomal dominant, Not applicable
Neonatal
Cardiac anomalies-heterotaxy syndrome
Autosomal dominant
Antenatal, Infancy, Neonatal
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
Autosomal dominant
Infancy, Neonatal
Cardiocranial syndrome, Pfeiffer type
Autosomal dominant, Autosomal recessive, Not applicable
Infancy, Neonatal
Cardiofaciocutaneous syndrome
Autosomal dominant
Antenatal, Neonatal
Cardiospondylocarpofacial syndrome
Autosomal dominant
All ages
Carey-Fineman-Ziter syndrome
Autosomal recessive
Neonatal
Caroli disease
Autosomal recessive, Not applicable
All ages
Caroli syndrome
Autosomal recessive
All ages
Carpenter syndrome
Autosomal recessive
Antenatal, Childhood, Neonatal
Carpotarsal osteochondromatosis
Autosomal dominant
Adult
Cat-eye syndrome
Not applicable
Antenatal, Neonatal
Cataract-aberrant oral frenula-growth delay syndrome
Childhood
Cataract-congenital heart disease-neural tube defect syndrome
Infancy, Neonatal
Cataract-deafness-hypogonadism syndrome
Autosomal recessive
Infancy, Neonatal
Cataract-hypertrichosis-intellectual disability syndrome
Autosomal recessive
Neonatal
Cataract-intellectual disability-hypogonadism syndrome
Autosomal recessive
Neonatal
Cataract-microcornea syndrome
Autosomal dominant, Autosomal recessive
Neonatal
Cataract-nephropathy-encephalopathy syndrome
Autosomal recessive
Neonatal
Catel-Manzke syndrome
Autosomal recessive
Antenatal, Neonatal
Caudal appendage-deafness syndrome
Neonatal
Caudal duplication
Not applicable
Antenatal, Neonatal
Caudal regression syndrome
Multigenic/multifactorial, Not applicable
Antenatal, Neonatal
Cenani-Lenz syndrome
Autosomal recessive
Infancy, Neonatal