MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
727 Erkrankungen gefunden (Kl. subt.) Zurücksetzen

Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency

ORPHA:700333Kl. subt.
Autosomal recessive

Iatrogenic botulism

ORPHA:254509Kl. subt.

Idiopathic acute transverse myelitis

ORPHA:139423Kl. subt.
Not applicable

Idiopathic multicentric Castleman disease

ORPHA:570431Kl. subt.

Idiopathic multidrug-resistant nephrotic syndrome

ORPHA:567550Kl. subt.

Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy

ORPHA:567552Kl. subt.

IgG4-related aortitis

ORPHA:449400Kl. subt.
Not applicable

IgG4-related dacryoadenitis and sialadenitis

ORPHA:79078Kl. subt.
Not applicable

IgG4-related kidney disease

ORPHA:449395Kl. subt.
Not applicable

IgG4-related mediastinitis

ORPHA:63999Kl. subt.
Not applicable

IgG4-related mesenteritis

ORPHA:238593Kl. subt.
Not applicable

IgG4-related ophthalmic disease

ORPHA:449563Kl. subt.
Not applicable

IgG4-related pachymeningitis

ORPHA:449427Kl. subt.
Not applicable

IgG4-related retroperitoneal fibrosis

ORPHA:49041Kl. subt.
Not applicable, Unknown

IgG4-related sclerosing cholangitis

ORPHA:447764Kl. subt.
Not applicable

IgG4-related submandibular gland disease

ORPHA:449432Kl. subt.
Not applicable

IgG4-related thyroid disease

ORPHA:64744Kl. subt.
Not applicable

Immune hydrops fetalis

ORPHA:364013Kl. subt.
Not applicable

Immune-mediated thrombotic thrombocytopenic purpura

ORPHA:93585Kl. subt.
Multigenic/multifactorial

Immunoglobulin-mediated membranoproliferative glomerulonephritis

ORPHA:329903Kl. subt.
Multigenic/multifactorial, Unknown

Incomplete congenital stationary night blindness, Schubert-Bornschein type

ORPHA:714070Kl. subt.
Autosomal recessive, X-linked recessive

Infant botulism

ORPHA:178478Kl. subt.

Infantile CLN1 disease

ORPHA:699718Kl. subt.
Autosomal recessive

Infantile CLN2 disease

ORPHA:699751Kl. subt.
Autosomal recessive