Orphanet Database • Orphadata CC-BY-4.0
Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
7,547
Заболеваний
4 552
Генов
8 700
Фенотипов
140
Регионов
Все (7,547)Biological anomalyCategoryClinical groupClinical subtypeClinical syndromeDiseaseEtiological subtypeHistopathological subtypeMalformation syndromeMorphological anomalyParticular clinical situation in a disease or syndrome
Laryngotracheoesophageal cleft type 2
Infancy, Neonatal
Laryngotracheoesophageal cleft type 3
Infancy, Neonatal
Laryngotracheoesophageal cleft type 4
Infancy, Neonatal
Larynx atresia
Autosomal dominant
All ages
Lassa fever
All ages
Late infantile CACH syndrome
Autosomal recessive
Childhood
Late infantile CLN1 disease
Autosomal recessive
Late infantile CLN10 disease
Autosomal recessive
Late infantile CLN2 disease
Autosomal recessive
Late infantile CLN5 disease
Late infantile CLN6 disease
Autosomal recessive
Late infantile CLN8 disease
Autosomal recessive
Late-infantile/juvenile Krabbe disease
Autosomal recessive
Adolescent, Childhood, Infancy
Late-onset Steinert myotonic dystrophy
Autosomal dominant
Elderly
Late-onset citrullinemia type I
Autosomal recessive
Adult
Late-onset combined immunodeficiency due to ICOS deficiency
Autosomal recessive
Late-onset combined immunodeficiency due to ICOSL deficiency
Late-onset distal myopathy, Markesbery-Griggs type
Autosomal dominant
Adult
Late-onset familial hypoaldosteronism
Adult, Elderly
Late-onset focal dermal elastosis
Not applicable
Adult
Late-onset idiopathic chronic pancreatitis
Not applicable
Late-onset isolated ACTH deficiency
Not applicable
Adult
Late-onset junctional epidermolysis bullosa
Autosomal recessive
Adolescent, Adult, Childhood
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Unknown
Childhood