MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Takenouchi-Kosaki syndrome

ORPHA:487796Мальформация
Autosomal dominant

Tako-Tsubo cardiomyopathy

ORPHA:66529Заболевание
Unknown

Talaromycosis

ORPHA:697053Заболевание
Not applicable

Tall stature-intellectual disability-renal anomalies syndrome

ORPHA:500095Мальформация
Autosomal recessive

Tall stature-long halluces-multiple extra-epiphyses syndrome

ORPHA:329191Заболевание
Autosomal dominant

Talo-patello-scaphoid osteolysis

ORPHA:50809Мальформация
Autosomal recessive

Tangier disease

ORPHA:31150Заболевание
Autosomal recessive

Tarsal-carpal coalition syndrome

ORPHA:1412Мальформация
Autosomal dominant

Tatton-Brown-Rahman syndrome

ORPHA:404443Мальформация
Autosomal dominant

Tay-Sachs disease

ORPHA:845Заболевание
Autosomal recessive

Tay-Sachs disease, adult form

ORPHA:309192Клин. подтип
Autosomal recessive

Tay-Sachs disease, infantile form

ORPHA:309178Клин. подтип
Autosomal recessive

Tay-Sachs disease, juvenile form

ORPHA:309185Клин. подтип
Autosomal recessive

Teebi-Shaltout syndrome

ORPHA:3291Мальформация
Autosomal recessive

Tel Hashomer camptodactyly syndrome

ORPHA:3292Мальформация
Unknown

Telangiectasia macularis eruptiva perstans

ORPHA:90389Клин. подтип
Unknown

Telecanthus-hypertelorism-strabismus-pes cavus syndrome

ORPHA:3293Мальформация
Unknown

Telethonin-related limb-girdle muscular dystrophy R7

ORPHA:34514Заболевание
Autosomal recessive

Temperature-sensitive oculocutaneous albinism type 1

ORPHA:352737Клин. подтип
Autosomal recessive

Temple syndrome

ORPHA:254516Мальформация
Autosomal dominant, Not applicable

Temple syndrome due to maternal uniparental disomy of chromosome 14

ORPHA:96184Этиол. подтип

Temple syndrome due to paternal 14q32.2 hypomethylation

ORPHA:254531Этиол. подтип
Autosomal dominant, Not applicable

Temple syndrome due to paternal 14q32.2 microdeletion

ORPHA:254525Этиол. подтип
Autosomal dominant, Not applicable

Temple-Baraitser syndrome

ORPHA:420561Заболевание
Autosomal dominant