MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome

ORPHA:675628Kr.
X-linked recessive

TMEM165-CDG

ORPHA:314667Kr.
Autosomal recessive

TMEM199-CDG

ORPHA:466703Kr.
Autosomal recessive

TMEM70-related mitochondrial encephalo-cardio-myopathy

ORPHA:1194Kr.
Autosomal recessive

TNP03-related limb-girdle muscular dystrophy D2

ORPHA:55595Kr.
Autosomal dominant

TOR1AIP1-related limb-girdle muscular dystrophy

ORPHA:424261Kr.
Autosomal recessive

TRAPPC11-related limb-girdle muscular dystrophy R18

ORPHA:369840Kr.
Autosomal recessive

TRIM22-related inflammatory bowel disease

ORPHA:597201Kr.
Autosomal recessive

TRIM32-related limb-girdle muscular dystrophy R8

ORPHA:1878Kr.
Autosomal recessive

TSH-secreting pituitary adenoma

ORPHA:91347Kr.

Takayasu arteritis

ORPHA:3287Kr.
Not applicable

Tako-Tsubo cardiomyopathy

ORPHA:66529Kr.
Unknown

Talaromycosis

ORPHA:697053Kr.
Not applicable

Tall stature-long halluces-multiple extra-epiphyses syndrome

ORPHA:329191Kr.
Autosomal dominant

Tangier disease

ORPHA:31150Kr.
Autosomal recessive

Tay-Sachs disease

ORPHA:845Kr.
Autosomal recessive

Telethonin-related limb-girdle muscular dystrophy R7

ORPHA:34514Kr.
Autosomal recessive

Temple-Baraitser syndrome

ORPHA:420561Kr.
Autosomal dominant

Tenosynovial giant cell tumor

ORPHA:66627Kr.
Not applicable

Testicular seminomatous germ cell tumor

ORPHA:842Kr.
Not applicable

Testicular teratoma

ORPHA:363483Kr.

Tetanus

ORPHA:3299Kr.

Thanatophoric dysplasia

ORPHA:2655Kr.
Autosomal dominant, Not applicable

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

ORPHA:99917Kr.