Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Isolated cerebellar vermis agenesis
Infancy, Neonatal
Isolated childhood apraxia of speech
Autosomal dominant
Childhood
Isolated cleft lip
Multigenic/multifactorial
Infancy, Neonatal
Isolated colonic duplication
Not applicable
Isolated complex I deficiency
Autosomal recessive, Mitochondrial inheritance, X-linked dominant
All ages
Isolated complex III deficiency
Autosomal recessive, Mitochondrial inheritance
Childhood, Infancy, Neonatal
Isolated congenital adermatoglyphia
Autosomal dominant
Infancy, Neonatal
Isolated congenital alacrima
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Isolated congenital anonychia
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Isolated congenital anosmia
Autosomal dominant, X-linked recessive
Infancy, Neonatal
Isolated congenital breast hypoplasia/aplasia
Autosomal recessive
Isolated congenital cholesteatoma of the middle ear
Unknown
Isolated congenital hepatic fibrosis
Neonatal
Isolated congenital hypoglossia/aglossia
Infancy, Neonatal
Isolated congenital hypogonadotropic hypogonadism
Autosomal dominant, Autosomal recessive, Oligogenic, Unknown, X-linked recessive
Adolescent, Infancy, Neonatal
Isolated congenital laryngeal web
Infancy, Neonatal
Isolated congenital megalocornea
X-linked recessive
Isolated congenital microcephaly
Antenatal, Neonatal
Isolated congenital nasal pyriform aperture stenosis
Neonatal
Isolated congenital onychodysplasia
Neonatal
Isolated congenital sclerocornea
Autosomal dominant
Isolated congenital syngnathia
Neonatal
Isolated congenitally uncorrected transposition of the great arteries
Multigenic/multifactorial, Not applicable
Infancy, Neonatal
Isolated corpus callosum agenesis
Not applicable
Antenatal