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Редкие (орфанные) заболевания
Полная база 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, препаратами и исследованиями.
7,547
Заболевания
4 552
Гены
8 700
Фенотипы
140
Регионы
Все (7,547)Bio anomalyCategoryClinical groupClinical subtypeClinical syndromeDiseaseEtiological subtypeHistopathological subtypeMalformationMorphological anomalyClinical situation
CLN13 disease
Adolescent, Adult, Childhood, Elderly
CLN14 disease
CLN2 disease
Autosomal recessive
Infancy
CLN3 disease
Autosomal recessive
Infancy
CLN4 disease
Adult
CLN5 disease
Infancy
CLN6 disease
Autosomal recessive
Infancy
CLN7 disease
Infancy
CLN8 disease
Autosomal recessive
Infancy
CLOVES syndrome
Not applicable
Infancy, Neonatal
CNTNAP2-related developmental and epileptic encephalopathy
Autosomal recessive
Infancy
COASY protein-associated neurodegeneration
Autosomal recessive
Childhood
CODAS syndrome
Autosomal recessive
Infancy, Neonatal
COFS syndrome
Autosomal recessive
Antenatal, Neonatal
COG1-CDG
Autosomal recessive
Infancy, Neonatal
COG2-CDG
Autosomal recessive
Infancy
COG4-CDG
Autosomal recessive
Infancy, Neonatal
COG5-CDG
Autosomal recessive
Childhood
COG6-CGD
Autosomal recessive
Neonatal
COG7-CDG
Autosomal recessive
Infancy, Neonatal
COG8-CDG
Autosomal recessive
Childhood
COL4A1/2-related familial vascular leukoencephalopathy
Autosomal dominant
COQ7-related distal hereditary motor neuropathy
Autosomal recessive
CPE-related Prader-Willi-like syndrome
Childhood, Infancy