MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Intraneural perineurioma

ORPHA:100003Kr.

Intraocular medulloepithelioma

ORPHA:268139Kr.
Not applicable

Intraoral basal cell carcinoma

ORPHA:667678Kr.
Not yet documented

Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome

ORPHA:508512Kr.
Autosomal recessive

Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome

ORPHA:436144Kr.
Autosomal dominant

Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome

ORPHA:659702Malf.

Intravascular large B-cell lymphoma

ORPHA:98839Kr.
Not applicable

Invasive candidiasis

ORPHA:636945Kr.

Invasive infections due to vancomycin-resistant enterococci

ORPHA:90078spez. Sit.

Invasive mole

ORPHA:99925Kr.
Not applicable

Invasive non-typhoidal salmonellosis

ORPHA:324648Kr.

Invasive scopulariopsis infection

ORPHA:633124Kr.

Inverted duplicated chromosome 15 syndrome

ORPHA:3306Malf.
Not applicable, Unknown

Iridocorneal endothelial syndrome

ORPHA:64734Kr.
Not applicable

Isaacs syndrome

ORPHA:84142Kr.
Not applicable

Isobutyryl-CoA dehydrogenase deficiency

ORPHA:79159Kr.
Autosomal recessive

Isochromosomy Yp syndrome

ORPHA:98797Malf.

Isochromosomy Yq syndrome

ORPHA:98798Malf.

Isolated ATP synthase deficiency

ORPHA:254913Kr.
Autosomal recessive

Isolated Dandy-Walker malformation

ORPHA:217Morph.
Multigenic/multifactorial

Isolated Dandy-Walker malformation with hydrocephalus

ORPHA:269212Kl. subt.

Isolated Dandy-Walker malformation without hydrocephalus

ORPHA:269215Kl. subt.
Multigenic/multifactorial

Isolated Joubert syndrome

ORPHA:475Malf.
Autosomal recessive

Isolated Klippel-Feil syndrome

ORPHA:2345Malf.
Autosomal dominant, Autosomal recessive, Not applicable