MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Endosteal hyperostosis, Worth type

ORPHA:2790Порок
Autosomal dominant

Endosteal sclerosis-cerebellar hypoplasia syndrome

ORPHA:85186Порок
Autosomal recessive

Eng-Strom syndrome

ORPHA:1937Порок
Autosomal dominant

Enlarged parietal foramina

ORPHA:60015Порок
Autosomal dominant

Enteric anendocrinosis

ORPHA:83620Заболевание
Autosomal recessive

Enteropathy-associated T-cell lymphoma

ORPHA:86880Заболевание
Not applicable

Enthesitis-related juvenile idiopathic arthritis

ORPHA:85438Заболевание
Unknown

Eosinophilic angiocentric fibrosis

ORPHA:449566Заболевание
Not applicable

Eosinophilic colitis

ORPHA:402035Заболевание

Eosinophilic cystitis

ORPHA:708684Заболевание

Eosinophilic fasciitis

ORPHA:3165Заболевание
Unknown

Eosinophilic gastroenteritis

ORPHA:2070Заболевание
Not applicable

Eosinophilic granulomatosis with polyangiitis

ORPHA:183Заболевание
Not applicable

Ependymal tumor

ORPHA:301Клин. гр.

Ependymoma

ORPHA:251636Заболевание
Not applicable

Epibulbar lipodermoid-preauricular appendage-polythelia syndrome

ORPHA:231742Порок
Autosomal dominant

Epidemic typhus

ORPHA:83314Заболевание
Not applicable

Epidermal nevus syndrome

ORPHA:35125Заболевание
Not applicable

Epidermolysis bullosa acquisita

ORPHA:46487Заболевание
Not applicable

Epidermolysis bullosa simplex

ORPHA:304Клин. гр.
Autosomal dominant, Autosomal recessive

Epidermolysis bullosa simplex due to BP230 deficiency

ORPHA:412181Заболевание
Autosomal recessive

Epidermolysis bullosa simplex due to exophilin 5 deficiency

ORPHA:412189Заболевание
Autosomal recessive

Epidermolysis bullosa simplex with anodontia/hypodontia

ORPHA:2325Порок

Epidermolysis bullosa simplex with circinate migratory erythema

ORPHA:158681Заболевание
Autosomal dominant