MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Tetrasomy X syndrome

ORPHA:9Malf.

Thakker-Donnai syndrome

ORPHA:1780Malf.
Autosomal recessive

Thalidomide embryopathy

ORPHA:3312Malf.
Not applicable

Thanatophoric dysplasia

ORPHA:2655Kr.
Autosomal dominant, Not applicable

Thanatophoric dysplasia type 1

ORPHA:1860Kl. subt.
Autosomal dominant, Not applicable

Thanatophoric dysplasia type 2

ORPHA:93274Kl. subt.
Autosomal dominant, Not applicable

Theca steroid-producing cell malignant tumor of ovary, not further specified

ORPHA:99917Kr.

Therapy related acute myeloid leukemia and myelodysplastic syndrome

ORPHA:86846Kat.

Thiamine-responsive encephalopathy

ORPHA:199348Kr.
Autosomal recessive

Thiamine-responsive maple syrup urine disease

ORPHA:268184Kl. subt.
Autosomal recessive

Thiamine-responsive megaloblastic anemia syndrome

ORPHA:49827Kr.
Autosomal recessive

Thickened earlobes-conductive deafness syndrome

ORPHA:2405Malf.
Autosomal dominant

Thiel-Behnke corneal dystrophy

ORPHA:98960Kr.
Autosomal dominant

Thiemann disease, familial form

ORPHA:3314Kr.
Not applicable

Thin ribs-tubular bones-dysmorphism syndrome

ORPHA:1506Malf.

Thinking epilepsy

ORPHA:166424Kr.

Thomas syndrome

ORPHA:3316Malf.
Autosomal recessive

Thomsen and Becker disease

ORPHA:614Kr.
Autosomal dominant, Autosomal recessive

Thoracic dysplasia-hydrocephalus syndrome

ORPHA:1861Malf.

Thoracic outlet syndrome

ORPHA:97330Kr.

Thoraco-abdominal enteric duplication

ORPHA:1759Malf.

Thoracolaryngopelvic dysplasia

ORPHA:3317Malf.
Autosomal dominant

Thoracomelic dysplasia

ORPHA:1803Kr.

Thrombocythemia with distal limb defects

ORPHA:329319Kr.
Autosomal dominant