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

Isolated follicle stimulating hormone deficiency

ORPHA:52901Kr.
Autosomal recessive

Isolated generalized anhidrosis with normal sweat glands

ORPHA:468666Kr.
Autosomal recessive

Isolated glycerol kinase deficiency

ORPHA:408Kr.
X-linked recessive

Isolated hyperchlorhidrosis

ORPHA:542657Kr.
Autosomal recessive

Isolated lissencephaly type 1 without known genetic defects

ORPHA:1084Kr.
Unknown

Isolated melanotic schwannoma

ORPHA:590539Kr.

Isolated mesenteric vein thrombosis

ORPHA:583861Kr.

Isolated micronodular adrenocortical disease

ORPHA:647782Kr.

Isolated neonatal sclerosing cholangitis

ORPHA:480556Kr.
Autosomal recessive

Isolated osteopoikilosis

ORPHA:166119Kr.
Autosomal dominant

Isolated permanent neonatal diabetes mellitus

ORPHA:99885Kr.
Autosomal dominant, Autosomal recessive

Isolated primary pigmented nodular adrenocortical disease

ORPHA:647772Kr.

Isolated pulmonary capillaritis

ORPHA:264691Kr.
Not applicable

Isolated sedoheptulokinase deficiency

ORPHA:440713Kr.
Autosomal recessive

Isolated splenic vein thrombosis

ORPHA:583856Kr.

Isolated succinate-CoQ reductase deficiency

ORPHA:3208Kr.
Autosomal recessive

Isolated thyroid-stimulating hormone deficiency

ORPHA:90674Kr.
Autosomal recessive

Isolated thyrotropin-releasing hormone deficiency

ORPHA:238670Kr.
Unknown

Isosporiasis

ORPHA:472Kr.
Not applicable

Isovaleric acidemia

ORPHA:33Kr.
Autosomal recessive

Jansen-de Vries syndrome

ORPHA:653767Kr.
Autosomal dominant

Japanese encephalitis

ORPHA:79139Kr.
Not applicable

Jervell and Lange-Nielsen syndrome

ORPHA:90647Kr.
Autosomal recessive

Jessner lymphocytic infiltration of the skin

ORPHA:33314Kr.
Not applicable