Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome
X-linked recessive
TMEM165-CDG
Autosomal recessive
Infancy, Neonatal
TMEM199-CDG
Autosomal recessive
Adolescent, Childhood, Infancy
TMEM70-related mitochondrial encephalo-cardio-myopathy
Autosomal recessive
Infancy, Neonatal
TNP03-related limb-girdle muscular dystrophy D2
Autosomal dominant
Adolescent, Adult, Childhood, Infancy
TOR1AIP1-related limb-girdle muscular dystrophy
Autosomal recessive
Adolescent, Childhood
TRAPPC11-related limb-girdle muscular dystrophy R18
Autosomal recessive
Childhood, Infancy
TRIM22-related inflammatory bowel disease
Autosomal recessive
Neonatal
TRIM32-related limb-girdle muscular dystrophy R8
Autosomal recessive
Adolescent, Adult, Childhood
TSH-secreting pituitary adenoma
Adolescent, Adult, Childhood, Elderly
Takayasu arteritis
Not applicable
Adolescent, Adult
Tako-Tsubo cardiomyopathy
Unknown
All ages
Talaromycosis
Not applicable
Tall stature-long halluces-multiple extra-epiphyses syndrome
Autosomal dominant
Childhood
Tangier disease
Autosomal recessive
Adolescent, Adult, Childhood, Infancy, Neonatal
Tay-Sachs disease
Autosomal recessive
All ages
Telethonin-related limb-girdle muscular dystrophy R7
Autosomal recessive
Adolescent, Childhood, Infancy
Temple-Baraitser syndrome
Autosomal dominant
Infancy, Neonatal
Tenosynovial giant cell tumor
Not applicable
Adolescent, Adult, Childhood
Testicular seminomatous germ cell tumor
Not applicable
Adult
Testicular teratoma
Adolescent, Adult, Childhood, Infancy
Tetanus
All ages
Thanatophoric dysplasia
Autosomal dominant, Not applicable
Antenatal, Neonatal
Theca steroid-producing cell malignant tumor of ovary, not further specified
Adult