MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

IgG4-related sclerosing cholangitis

ORPHA:447764Kl. subt.
Not applicable

IgG4-related submandibular gland disease

ORPHA:449432Kl. subt.
Not applicable

IgG4-related systemic disease

ORPHA:596448Kr.
Not applicable

IgG4-related thyroid disease

ORPHA:64744Kl. subt.
Not applicable

Ileal neuroendocrine tumor

ORPHA:100078Kr.
Not applicable

Ileal pouch anal anastomosis related faecal incontinence

ORPHA:238621spez. Sit.
Not applicable

Imagawa-Matsumoto syndrome

ORPHA:659463Malf.
Autosomal dominant

Imerslund-Gräsbeck syndrome

ORPHA:35858Kr.
Autosomal recessive

Iminoglycinuria

ORPHA:42062Kr.
Autosomal recessive

Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency

ORPHA:699590Kr.
Autosomal recessive

Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome

ORPHA:529980Kr.

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

ORPHA:238569Kr.
Autosomal recessive

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome

ORPHA:529977Kr.
Autosomal recessive

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

ORPHA:37042Kr.
X-linked recessive

Immune hydrops fetalis

ORPHA:364013Kl. subt.
Not applicable

Immune thrombocytopenia

ORPHA:3002Kr.
Not applicable

Immune-mediated necrotizing myopathy

ORPHA:206569Kr.
Not applicable

Immune-mediated scleritis

ORPHA:648681Kr.

Immune-mediated thrombotic thrombocytopenic purpura

ORPHA:93585Kl. subt.
Multigenic/multifactorial

Immunodeficiency by defective expression of MHC class I

ORPHA:34592Kr.
Autosomal recessive

Immunodeficiency by defective expression of MHC class II

ORPHA:572Kr.
Autosomal recessive

Immunodeficiency due to CD25 deficiency

ORPHA:169100Kr.
Autosomal recessive

Immunodeficiency due to MASP-2 deficiency

ORPHA:331187Kr.
Autosomal recessive

Immunodeficiency due to a classical component pathway complement deficiency

ORPHA:169147Kr.
Autosomal recessive