Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Annular lichen planus
All ages
Annular pancreas
Autosomal dominant, Not applicable
Infancy, Neonatal
Anoctamin-5-related limb-girdle muscular dystrophy R12
Autosomal recessive
Adolescent, Adult, Childhood
Anonychia congenita totalis
Autosomal recessive
Anonychia with flexural pigmentation
Autosomal dominant
Infancy, Neonatal
Anonychia-microcephaly syndrome
Autosomal recessive
Neonatal
Anonychia-onychodystrophy syndrome
Autosomal dominant, Autosomal recessive
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
Anotia
Infancy, Neonatal
Antecubital pterygium syndrome
Autosomal dominant
Infancy, Neonatal
Antenatal multiminicore disease with arthrogryposis multiplex congenita
Antenatal
Anterior cutaneous nerve entrapment syndrome
Not applicable
All ages
Anterior maxillary protrusion-strabismus-intellectual disability syndrome
Autosomal recessive
Childhood, Infancy
Anterior segment developmental anomaly
Autosomal dominant
Neonatal
Anterior urethral valve
Not applicable
Adolescent, Antenatal, Childhood, Infancy, Neonatal
Anterior uveitis
Not applicable
All ages
Anti-glomerular basement membrane disease
Not applicable
Adolescent, Adult, Elderly
Anti-neutrophil cytoplasmic antibody-associated vasculitis
Anti-p200 pemphigoid
Not applicable
Adult, Elderly
Antisynthetase syndrome
Not applicable
Adult, Elderly
Antley-Bixler syndrome
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Autosomal recessive