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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Takenouchi-Kosaki syndrome

ORPHA:487796Порок
Autosomal dominant

Tako-Tsubo cardiomyopathy

ORPHA:66529Заболевание
Unknown

Talaromycosis

ORPHA:697053Заболевание
Not applicable

Tall stature-intellectual disability-renal anomalies syndrome

ORPHA:500095Порок
Autosomal recessive

Tall stature-long halluces-multiple extra-epiphyses syndrome

ORPHA:329191Заболевание
Autosomal dominant

Talo-patello-scaphoid osteolysis

ORPHA:50809Порок
Autosomal recessive

Tangier disease

ORPHA:31150Заболевание
Autosomal recessive

Tarsal-carpal coalition syndrome

ORPHA:1412Порок
Autosomal dominant

Tatton-Brown-Rahman syndrome

ORPHA:404443Порок
Autosomal dominant

Tay-Sachs disease

ORPHA:845Заболевание
Autosomal recessive

Tay-Sachs disease, adult form

ORPHA:309192Клин. подт.
Autosomal recessive

Tay-Sachs disease, infantile form

ORPHA:309178Клин. подт.
Autosomal recessive

Tay-Sachs disease, juvenile form

ORPHA:309185Клин. подт.
Autosomal recessive

Teebi-Shaltout syndrome

ORPHA:3291Порок
Autosomal recessive

Tel Hashomer camptodactyly syndrome

ORPHA:3292Порок
Unknown

Telangiectasia macularis eruptiva perstans

ORPHA:90389Клин. подт.
Unknown

Telecanthus-hypertelorism-strabismus-pes cavus syndrome

ORPHA:3293Порок
Unknown

Telethonin-related limb-girdle muscular dystrophy R7

ORPHA:34514Заболевание
Autosomal recessive

Temperature-sensitive oculocutaneous albinism type 1

ORPHA:352737Клин. подт.
Autosomal recessive

Temple syndrome

ORPHA:254516Порок
Autosomal dominant, Not applicable

Temple syndrome due to maternal uniparental disomy of chromosome 14

ORPHA:96184Этиол. подт.

Temple syndrome due to paternal 14q32.2 hypomethylation

ORPHA:254531Этиол. подт.
Autosomal dominant, Not applicable

Temple syndrome due to paternal 14q32.2 microdeletion

ORPHA:254525Этиол. подт.
Autosomal dominant, Not applicable

Temple-Baraitser syndrome

ORPHA:420561Заболевание
Autosomal dominant