MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Takenouchi-Kosaki syndrome

ORPHA:487796Мальф.
Autosomal dominant

Tako-Tsubo cardiomyopathy

ORPHA:66529Ауру
Unknown

Talaromycosis

ORPHA:697053Ауру
Not applicable

Tall stature-intellectual disability-renal anomalies syndrome

ORPHA:500095Мальф.
Autosomal recessive

Tall stature-long halluces-multiple extra-epiphyses syndrome

ORPHA:329191Ауру
Autosomal dominant

Talo-patello-scaphoid osteolysis

ORPHA:50809Мальф.
Autosomal recessive

Tangier disease

ORPHA:31150Ауру
Autosomal recessive

Tarsal-carpal coalition syndrome

ORPHA:1412Мальф.
Autosomal dominant

Tatton-Brown-Rahman syndrome

ORPHA:404443Мальф.
Autosomal dominant

Tay-Sachs disease

ORPHA:845Ауру
Autosomal recessive

Tay-Sachs disease, adult form

ORPHA:309192Клин. под.
Autosomal recessive

Tay-Sachs disease, infantile form

ORPHA:309178Клин. под.
Autosomal recessive

Tay-Sachs disease, juvenile form

ORPHA:309185Клин. под.
Autosomal recessive

Teebi-Shaltout syndrome

ORPHA:3291Мальф.
Autosomal recessive

Tel Hashomer camptodactyly syndrome

ORPHA:3292Мальф.
Unknown

Telangiectasia macularis eruptiva perstans

ORPHA:90389Клин. под.
Unknown

Telecanthus-hypertelorism-strabismus-pes cavus syndrome

ORPHA:3293Мальф.
Unknown

Telethonin-related limb-girdle muscular dystrophy R7

ORPHA:34514Ауру
Autosomal recessive

Temperature-sensitive oculocutaneous albinism type 1

ORPHA:352737Клин. под.
Autosomal recessive

Temple syndrome

ORPHA:254516Мальф.
Autosomal dominant, Not applicable

Temple syndrome due to maternal uniparental disomy of chromosome 14

ORPHA:96184Этио. под.

Temple syndrome due to paternal 14q32.2 hypomethylation

ORPHA:254531Этио. под.
Autosomal dominant, Not applicable

Temple syndrome due to paternal 14q32.2 microdeletion

ORPHA:254525Этио. под.
Autosomal dominant, Not applicable

Temple-Baraitser syndrome

ORPHA:420561Ауру
Autosomal dominant