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

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

ORPHA:276598Kr.
Autosomal recessive

Dicarboxylic aminoaciduria

ORPHA:2195Kr.
Autosomal recessive

Didymosis aplasticosebacea

ORPHA:370046Kr.
Not applicable

Diencephalic syndrome

ORPHA:1672Kr.
Not applicable

Dietary iron overload disease

ORPHA:139507Kr.
Not applicable

Difference of sex development-intellectual disability syndrome

ORPHA:2983Kr.
Unknown

Differentiated thyroid carcinoma

ORPHA:146Kr.
Not applicable

Diffuse astrocytoma

ORPHA:251595Kr.

Diffuse cutaneous mastocytosis

ORPHA:79456Kr.
Not applicable

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

ORPHA:617916Kr.

Diffuse intrinsic pontine glioma

ORPHA:497188Kr.

Diffuse large B-cell lymphoma of the central nervous system

ORPHA:300849Kr.
Multigenic/multifactorial, Not applicable

Diffuse palmoplantar keratoderma with painful fissures

ORPHA:369999Kr.
Autosomal dominant

Diffuse palmoplantar keratoderma, Bothnian type

ORPHA:2337Kr.
Autosomal dominant

Diffuse palmoplantar keratoderma-acrocyanosis syndrome

ORPHA:86918Kr.
Autosomal dominant

Diffuse panbronchiolitis

ORPHA:171700Kr.
Multigenic/multifactorial

Digenic hemochromatosis

ORPHA:648581Kr.

Dihydropyrimidine dehydrogenase deficiency

ORPHA:1675Kr.
Autosomal recessive

Dihydropyrimidinuria

ORPHA:38874Kr.
Autosomal recessive

Dilated cardiomyopathy with ataxia

ORPHA:66634Kr.
Autosomal recessive

Dimethylglycine dehydrogenase deficiency

ORPHA:243343Kr.
Autosomal recessive

Diphtheria

ORPHA:1679Kr.

Diphyllobothriasis

ORPHA:128Kr.
Not applicable

Dirofilariasis

ORPHA:166291Kr.
Not applicable