MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Takenouchi-Kosaki syndrome

ORPHA:487796Malf.
Autosomal dominant

Tako-Tsubo cardiomyopathy

ORPHA:66529Kr.
Unknown

Talaromycosis

ORPHA:697053Kr.
Not applicable

Tall stature-intellectual disability-renal anomalies syndrome

ORPHA:500095Malf.
Autosomal recessive

Tall stature-long halluces-multiple extra-epiphyses syndrome

ORPHA:329191Kr.
Autosomal dominant

Talo-patello-scaphoid osteolysis

ORPHA:50809Malf.
Autosomal recessive

Tangier disease

ORPHA:31150Kr.
Autosomal recessive

Tarsal-carpal coalition syndrome

ORPHA:1412Malf.
Autosomal dominant

Tatton-Brown-Rahman syndrome

ORPHA:404443Malf.
Autosomal dominant

Tay-Sachs disease

ORPHA:845Kr.
Autosomal recessive

Tay-Sachs disease, adult form

ORPHA:309192Kl. subt.
Autosomal recessive

Tay-Sachs disease, infantile form

ORPHA:309178Kl. subt.
Autosomal recessive

Tay-Sachs disease, juvenile form

ORPHA:309185Kl. subt.
Autosomal recessive

Teebi-Shaltout syndrome

ORPHA:3291Malf.
Autosomal recessive

Tel Hashomer camptodactyly syndrome

ORPHA:3292Malf.
Unknown

Telangiectasia macularis eruptiva perstans

ORPHA:90389Kl. subt.
Unknown

Telecanthus-hypertelorism-strabismus-pes cavus syndrome

ORPHA:3293Malf.
Unknown

Telethonin-related limb-girdle muscular dystrophy R7

ORPHA:34514Kr.
Autosomal recessive

Temperature-sensitive oculocutaneous albinism type 1

ORPHA:352737Kl. subt.
Autosomal recessive

Temple syndrome

ORPHA:254516Malf.
Autosomal dominant, Not applicable

Temple syndrome due to maternal uniparental disomy of chromosome 14

ORPHA:96184Ätl. subt.

Temple syndrome due to paternal 14q32.2 hypomethylation

ORPHA:254531Ätl. subt.
Autosomal dominant, Not applicable

Temple syndrome due to paternal 14q32.2 microdeletion

ORPHA:254525Ätl. subt.
Autosomal dominant, Not applicable

Temple-Baraitser syndrome

ORPHA:420561Kr.
Autosomal dominant