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

Autoimmune hypoparathyroidism

ORPHA:36913Kr.
Not applicable

Autoimmune interstitial lung disease-arthritis syndrome

ORPHA:444092Kr.
Autosomal dominant

Autoimmune limbic encephalitis

ORPHA:623615Kr.

Autoimmune lymphoproliferative syndrome

ORPHA:3261Kr.
Autosomal dominant, Autosomal recessive

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

ORPHA:436159Kr.
Autosomal dominant

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

ORPHA:275517Kr.
Autosomal recessive

Autoimmune pancreatitis type 2

ORPHA:280315Kr.
Not applicable

Autoimmune polyendocrinopathy type 1

ORPHA:3453Kr.
Autosomal recessive

Autoimmune polyendocrinopathy type 2

ORPHA:3143Kr.

Autoimmune polyendocrinopathy type 3

ORPHA:227982Kr.
Multigenic/multifactorial

Autoimmune polyendocrinopathy type 4

ORPHA:227990Kr.
Multigenic/multifactorial

Autoimmune pulmonary alveolar proteinosis

ORPHA:747Kr.
Multigenic/multifactorial, Not applicable

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

ORPHA:324530Kr.
Autosomal dominant

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

ORPHA:329173Kr.
Autosomal recessive

Autosomal dominant ACTN2-related distal myopathy

ORPHA:708133Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation

ORPHA:487814Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

ORPHA:324611Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

ORPHA:435819Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

ORPHA:401964Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2A1

ORPHA:99946Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2A2

ORPHA:99947Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2B

ORPHA:99936Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2C

ORPHA:99937Kr.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2D

ORPHA:99938Kr.
Autosomal dominant