MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Emanuel syndrome

ORPHA:96170Malf.

Emery-Nelson syndrome

ORPHA:1927Malf.

Enamel-renal syndrome

ORPHA:1031Malf.
Autosomal recessive

Endocrine-cerebro-osteodysplasia syndrome

ORPHA:199332Malf.
Autosomal recessive

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

Epibulbar lipodermoid-preauricular appendage-polythelia syndrome

ORPHA:231742Malf.
Autosomal dominant

Epidermolysis bullosa simplex with anodontia/hypodontia

ORPHA:2325Malf.

Epilepsy-microcephaly-skeletal dysplasia syndrome

ORPHA:1948Malf.
Autosomal recessive

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

ORPHA:1825Malf.

Epiphyseal stippling-osteoclastic hyperplasia syndrome

ORPHA:1952Malf.
Autosomal recessive

Ermine phenotype

ORPHA:999Malf.
Autosomal recessive

Exostoses-anetodermia-brachydactyly type E syndrome

ORPHA:1962Malf.
Unknown

Exstrophy-epispadias complex

ORPHA:322Malf.
Multigenic/multifactorial

Extensor tendons of finger anomalies

ORPHA:3294Malf.

External auditory canal atresia-vertical talus-hypertelorism syndrome

ORPHA:3023Malf.
Autosomal dominant, Not applicable, Unknown

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

ORPHA:1964Malf.
Autosomal dominant

Eyebrow duplication-syndactyly syndrome

ORPHA:3172Malf.
Autosomal recessive

FATCO syndrome

ORPHA:2492Malf.

FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome

ORPHA:404451Malf.
Autosomal recessive

FOXP1 Syndrome

ORPHA:391372Malf.
Autosomal dominant

Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome

ORPHA:693549Malf.
Autosomal dominant