Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Infancy, Neonatal
Deafness-hypogonadism syndrome
Infancy, Neonatal
Deafness-infertility syndrome
Autosomal recessive
Childhood, Infancy, Neonatal
Deafness-intellectual disability syndrome, Martin-Probst type
X-linked recessive
Infancy, Neonatal
Deafness-oligodontia syndrome
Infancy, Neonatal
Deafness-vitiligo-achalasia syndrome
Autosomal recessive
Infancy, Neonatal
Delayed membranous cranial ossification
Infancy, Neonatal
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
Childhood
Deletion 5q35 syndrome
Not applicable, Unknown
Antenatal, Neonatal
Dental ankylosis
Adolescent, Adult, Childhood, Elderly
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
Autosomal recessive
Infancy, Neonatal
Dermatoosteolysis, Kirghizian type
Autosomal recessive
Infancy
Dermoodontodysplasia
Autosomal dominant
Childhood
Dermotrichic syndrome
Neonatal
Desbuquois syndrome
Autosomal recessive
Antenatal, Neonatal
Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome
Autosomal dominant
Antenatal, Infancy, Neonatal
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Autosomal dominant
Infancy, Neonatal
Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome
Autosomal dominant
Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
Autosomal dominant
Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome
Autosomal dominant
Developmental malformations-deafness-dystonia syndrome
Autosomal dominant
Adolescent, Infancy
Diabetic embryopathy
Not applicable
Antenatal, Neonatal
Diaphanospondylodysostosis
Autosomal recessive
Antenatal, Infancy, Neonatal
Diaphragmatic defect-limb deficiency-skull defect syndrome
Unknown
Antenatal