MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Endosteal hyperostosis, Worth type

ORPHA:2790Malf.
Autosomal dominant

Endosteal sclerosis-cerebellar hypoplasia syndrome

ORPHA:85186Malf.
Autosomal recessive

Eng-Strom syndrome

ORPHA:1937Malf.
Autosomal dominant

Enlarged parietal foramina

ORPHA:60015Malf.
Autosomal dominant

Enteric anendocrinosis

ORPHA:83620Kr.
Autosomal recessive

Enteropathy-associated T-cell lymphoma

ORPHA:86880Kr.
Not applicable

Enthesitis-related juvenile idiopathic arthritis

ORPHA:85438Kr.
Unknown

Eosinophilic angiocentric fibrosis

ORPHA:449566Kr.
Not applicable

Eosinophilic colitis

ORPHA:402035Kr.

Eosinophilic cystitis

ORPHA:708684Kr.

Eosinophilic fasciitis

ORPHA:3165Kr.
Unknown

Eosinophilic gastroenteritis

ORPHA:2070Kr.
Not applicable

Eosinophilic granulomatosis with polyangiitis

ORPHA:183Kr.
Not applicable

Ependymal tumor

ORPHA:301Kl. gruppe

Ependymoma

ORPHA:251636Kr.
Not applicable

Epibulbar lipodermoid-preauricular appendage-polythelia syndrome

ORPHA:231742Malf.
Autosomal dominant

Epidemic typhus

ORPHA:83314Kr.
Not applicable

Epidermal nevus syndrome

ORPHA:35125Kr.
Not applicable

Epidermolysis bullosa acquisita

ORPHA:46487Kr.
Not applicable

Epidermolysis bullosa simplex

ORPHA:304Kl. gruppe
Autosomal dominant, Autosomal recessive

Epidermolysis bullosa simplex due to BP230 deficiency

ORPHA:412181Kr.
Autosomal recessive

Epidermolysis bullosa simplex due to exophilin 5 deficiency

ORPHA:412189Kr.
Autosomal recessive

Epidermolysis bullosa simplex with anodontia/hypodontia

ORPHA:2325Malf.

Epidermolysis bullosa simplex with circinate migratory erythema

ORPHA:158681Kr.
Autosomal dominant