Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Isolated generalized anhidrosis with normal sweat glands
Autosomal recessive
Neonatal
Isolated geographic pattern capillary malformation
Not applicable
Isolated glycerol kinase deficiency
X-linked recessive
All ages
Isolated growth hormone deficiency type IA
Autosomal recessive
Infancy, Neonatal
Isolated growth hormone deficiency type IB
Autosomal recessive
Infancy, Neonatal
Isolated growth hormone deficiency type II
Autosomal dominant
Infancy, Neonatal
Isolated growth hormone deficiency type III
X-linked recessive
Infancy, Neonatal
Isolated growth hormone deficiency type IV
Autosomal recessive
Isolated hemihyperplasia
Autosomal dominant
Adolescent, Childhood, Infancy
Isolated hereditary congenital facial paralysis
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Isolated humero-radial synostosis
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Isolated humero-radio-ulnar synostosis
Unknown
Antenatal, Neonatal
Isolated humero-ulnar synostosis
Not applicable
No data available
Isolated hyperchlorhidrosis
Autosomal recessive
Infancy
Isolated jejuno-ileal duplication
Not applicable
Isolated left bronchial isomerism
Adult, Elderly
Isolated lissencephaly type 1 without known genetic defects
Unknown
Infancy, Neonatal
Isolated megalencephaly
Autosomal recessive
Antenatal, Neonatal
Isolated melanotic schwannoma
Adolescent, Adult, Childhood, Elderly
Isolated mesenteric vein thrombosis
Adult, Elderly
Isolated micronodular adrenocortical disease
Isolated microphthalmia-anophthalmia-coloboma
Autosomal dominant, Autosomal recessive, X-linked recessive
Antenatal, Neonatal
Isolated multiple intestinal atresia
Autosomal recessive
Antenatal, Neonatal
Isolated nail clubbing
Autosomal dominant, Autosomal recessive
Infancy, Neonatal