Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Tetrasomy X syndrome
Infancy, Neonatal
Thakker-Donnai syndrome
Autosomal recessive
Antenatal, Neonatal
Thalidomide embryopathy
Not applicable
Antenatal, Neonatal
Thanatophoric dysplasia
Autosomal dominant, Not applicable
Antenatal, Neonatal
Thanatophoric dysplasia type 1
Autosomal dominant, Not applicable
Antenatal, Neonatal
Thanatophoric dysplasia type 2
Autosomal dominant, Not applicable
Infancy, Neonatal
Theca steroid-producing cell malignant tumor of ovary, not further specified
Adult
Therapy related acute myeloid leukemia and myelodysplastic syndrome
All ages
Thiamine-responsive encephalopathy
Autosomal recessive
Adolescent
Thiamine-responsive maple syrup urine disease
Autosomal recessive
Infancy
Thiamine-responsive megaloblastic anemia syndrome
Autosomal recessive
Childhood
Thickened earlobes-conductive deafness syndrome
Autosomal dominant
All ages
Thiel-Behnke corneal dystrophy
Autosomal dominant
Adolescent, Adult, Childhood
Thiemann disease, familial form
Not applicable
Adolescent
Thin ribs-tubular bones-dysmorphism syndrome
Neonatal
Thinking epilepsy
Thomas syndrome
Autosomal recessive
Antenatal, Neonatal
Thomsen and Becker disease
Autosomal dominant, Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Thoracic dysplasia-hydrocephalus syndrome
Antenatal
Thoracic outlet syndrome
Adult, Elderly
Thoraco-abdominal enteric duplication
Infancy
Thoracolaryngopelvic dysplasia
Autosomal dominant
Infancy, Neonatal
Thoracomelic dysplasia
Infancy
Thrombocythemia with distal limb defects
Autosomal dominant
Infancy, Neonatal