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

Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis

ORPHA:324964Kr.
Not applicable

Chronic pneumonitis of infancy

ORPHA:91359Kr.
Not applicable

Chronic respiratory distress with surfactant metabolism deficiency

ORPHA:217566Kr.
Autosomal dominant

Chronic thromboembolic pulmonary hypertension

ORPHA:70591Kr.
Not applicable

Chronic visceral acid sphingomyelinase deficiency

ORPHA:77293Kr.
Autosomal recessive

Chuvash erythrocytosis

ORPHA:238557Kr.
Autosomal recessive

Chylomicron retention disease

ORPHA:71Kr.
Autosomal recessive

Chylous ascites

ORPHA:1160Kr.

Chédiak-Higashi syndrome

ORPHA:167Kr.
Autosomal recessive

Circumscribed palmoplantar hypokeratosis

ORPHA:69744Kr.
Unknown

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

ORPHA:309854Kr.
Autosomal recessive

Citrullinemia type I

ORPHA:247525Kr.
Autosomal recessive

Citrullinemia type II

ORPHA:247585Kr.
Autosomal recessive

Class I glucose-6-phosphate dehydrogenase deficiency

ORPHA:466026Kr.
X-linked recessive

Classic Hodgkin lymphoma

ORPHA:391Kr.
Unknown

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

ORPHA:90794Kr.
Autosomal recessive

Classic eosinophilic pustular folliculitis

ORPHA:617408Kr.

Classic galactosemia

ORPHA:79239Kr.
Autosomal recessive

Classic glucose transporter type 1 deficiency syndrome

ORPHA:71277Kr.
Autosomal dominant, Autosomal recessive

Classic hairy cell leukemia

ORPHA:58017Kr.
Unknown

Classic heparin-induced thrombocytopenia

ORPHA:3325Kr.
Not applicable

Classic mycosis fungoides

ORPHA:2584Kr.
Multigenic/multifactorial, Not applicable

Classical Ehlers-Danlos syndrome

ORPHA:287Kr.
Autosomal dominant

Classical-like Ehlers-Danlos syndrome type 1

ORPHA:230839Kr.
Autosomal recessive