Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Null syndrome
X-linked recessive
Childhood
O'Sullivan-McLeod syndrome
Adult
OBSOLETE: Cleft lip-retinopathy syndrome
Antenatal
OBSOLETE: Primary intraocular lymphoma
Not applicable
Adult
OBSOLETE: X-linked retinal dysplasia
Childhood
OSLAM syndrome
Autosomal dominant
Neonatal
Obesity due to CEP19 deficiency
Autosomal recessive
Childhood
Obesity due to SIM1 deficiency
Autosomal recessive
Infancy, Neonatal
Obesity due to congenital leptin deficiency
Autosomal recessive
Childhood
Obesity due to leptin receptor gene deficiency
Autosomal recessive
Childhood, Infancy
Obesity due to melanocortin 4 receptor deficiency
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Obesity due to pro-opiomelanocortin deficiency
Autosomal recessive
Infancy, Neonatal
Obesity due to prohormone convertase I deficiency
Autosomal recessive
Infancy, Neonatal
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
Unknown
Infancy, Neonatal
Oblique facial cleft
Infancy, Neonatal
Occipital encephalocele
Autosomal dominant
Occipital horn syndrome
X-linked recessive
Childhood, Infancy, Neonatal
Occipital pachygyria and polymicrogyria
Autosomal recessive
Infancy, Neonatal
Occult macular dystrophy
Autosomal dominant
All ages
Ocular albinism with late-onset sensorineural deafness
X-linked recessive
Adult
Ocular anomalies-axonal neuropathy-developmental delay syndrome
Autosomal dominant
Infancy, Neonatal
Ocular cystinosis
Autosomal recessive
Adult
Ocular motor apraxia, Cogan type
Autosomal recessive
Childhood
Ocular surface squamous neoplasia
Adolescent, Adult, Childhood, Elderly