Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Takenouchi-Kosaki syndrome
Autosomal dominant
Neonatal
Tako-Tsubo cardiomyopathy
Unknown
All ages
Talaromycosis
Not applicable
Tall stature-intellectual disability-renal anomalies syndrome
Autosomal recessive
Antenatal, Neonatal
Tall stature-long halluces-multiple extra-epiphyses syndrome
Autosomal dominant
Childhood
Talo-patello-scaphoid osteolysis
Autosomal recessive
Childhood
Tangier disease
Autosomal recessive
Adolescent, Adult, Childhood, Infancy, Neonatal
Tarsal-carpal coalition syndrome
Autosomal dominant
Neonatal
Tatton-Brown-Rahman syndrome
Autosomal dominant
Neonatal
Tay-Sachs disease
Autosomal recessive
All ages
Tay-Sachs disease, adult form
Autosomal recessive
Tay-Sachs disease, infantile form
Autosomal recessive
Tay-Sachs disease, juvenile form
Autosomal recessive
Teebi-Shaltout syndrome
Autosomal recessive
Infancy, Neonatal
Tel Hashomer camptodactyly syndrome
Unknown
Infancy, Neonatal
Telangiectasia macularis eruptiva perstans
Unknown
Telecanthus-hypertelorism-strabismus-pes cavus syndrome
Unknown
Neonatal
Telethonin-related limb-girdle muscular dystrophy R7
Autosomal recessive
Adolescent, Childhood, Infancy
Temperature-sensitive oculocutaneous albinism type 1
Autosomal recessive
Infancy, Neonatal
Temple syndrome
Autosomal dominant, Not applicable
Antenatal, Infancy, Neonatal
Temple syndrome due to maternal uniparental disomy of chromosome 14
Antenatal, Neonatal
Temple syndrome due to paternal 14q32.2 hypomethylation
Autosomal dominant, Not applicable
Infancy, Neonatal
Temple syndrome due to paternal 14q32.2 microdeletion
Autosomal dominant, Not applicable
Infancy, Neonatal
Temple-Baraitser syndrome
Autosomal dominant
Infancy, Neonatal