Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Autosomal recessive
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Autosomal recessive
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Autosomal recessive
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Autosomal recessive
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Autosomal recessive
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Autosomal recessive
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Autosomal dominant, Autosomal recessive
Adult
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Autosomal recessive
Childhood
Goblet cell carcinoma
Not applicable
Adult
Gorlin-Chaudhry-Moss syndrome
Autosomal recessive
Neonatal
Griscelli syndrome type 1
Autosomal recessive
Childhood, Infancy
Griscelli syndrome type 2
Autosomal recessive
Childhood, Infancy
Griscelli syndrome type 3
Autosomal recessive
Childhood
HHV-8-associated multicentric Castleman disease
All ages
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Autosomal dominant
Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
HSD10 disease, atypical type
X-linked dominant
Childhood, Infancy
HSD10 disease, infantile type
X-linked dominant
Infancy, Neonatal
HSD10 disease, neonatal type
X-linked dominant
Infancy, Neonatal
Hamel cerebro-palato-cardiac syndrome
X-linked recessive
Infancy, Neonatal
Hemoglobin E-beta-thalassemia intermedia
Autosomal recessive
Hemoglobin E-beta-thalassemia major
Autosomal recessive
Hemoglobin Lepore-beta-thalassemia intermedia
Autosomal recessive
Hemoglobin Lepore-beta-thalassemia major
Autosomal recessive
Hereditary North American Indian childhood cirrhosis
Autosomal recessive
Infancy, Neonatal