Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Aniridia-cerebellar ataxia-intellectual disability syndrome
Autosomal dominant, Autosomal recessive, Not applicable
Infancy, Neonatal
Aniridia-intellectual disability syndrome
Autosomal dominant
Childhood
Aniridia-ptosis-intellectual disability-familial obesity syndrome
Autosomal dominant
Childhood
Aniridia-renal agenesis-psychomotor retardation syndrome
Autosomal recessive
Neonatal
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Autosomal dominant
Neonatal
Ankylosing vertebral hyperostosis with tylosis
Autosomal dominant
Adult
Anonychia with flexural pigmentation
Autosomal dominant
Infancy, Neonatal
Anonychia-microcephaly syndrome
Autosomal recessive
Neonatal
Anophthalmia plus syndrome
Autosomal recessive
Antenatal, Neonatal
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
Autosomal recessive
Infancy, Neonatal
Anophthalmia/microphthalmia-esophageal atresia syndrome
Autosomal dominant, Not applicable
Antenatal, Neonatal
Antecubital pterygium syndrome
Autosomal dominant
Infancy, Neonatal
Anterior maxillary protrusion-strabismus-intellectual disability syndrome
Autosomal recessive
Childhood, Infancy
Antley-Bixler syndrome
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
Autosomal dominant
Infancy, Neonatal
Apert syndrome
Autosomal dominant
Antenatal, Neonatal
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Autosomal recessive
Neonatal
Aphalangy-syndactyly-microcephaly syndrome
Autosomal dominant
Antenatal, Neonatal
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
Autosomal recessive
Infancy, Neonatal
Aplasia cutis congenita
Autosomal dominant, Autosomal recessive, Not applicable
Antenatal, Neonatal
Aprosencephaly cerebellar dysgenesis
Antenatal
Arachnodactyly-abnormal ossification-intellectual disability syndrome
Unknown
Infancy, Neonatal
Arachnodactyly-intellectual disability-dysmorphism syndrome
Unknown
Infancy, Neonatal
Arterial dissection-lentiginosis syndrome
Unknown
Childhood