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

Brachydactyly type E

ORPHA:93387Malf.
Autosomal dominant

Brachydactyly-arterial hypertension syndrome

ORPHA:1276Malf.
Autosomal dominant

Brachydactyly-elbow wrist dysplasia syndrome

ORPHA:1275Malf.
Autosomal dominant

Brachydactyly-long thumb syndrome

ORPHA:2946Malf.
Autosomal dominant

Brachydactyly-mesomelia-intellectual disability-heart defects syndrome

ORPHA:1277Malf.

Brachydactyly-nystagmus-cerebellar ataxia syndrome

ORPHA:1246Malf.
Unknown

Brachydactyly-preaxial hallux varus syndrome

ORPHA:1278Malf.
Autosomal dominant

Brachydactyly-short stature-retinitis pigmentosa syndrome

ORPHA:166035Malf.
Autosomal recessive

Brachydactyly-syndactyly, Zhao type

ORPHA:93409Malf.
Autosomal dominant

Brachymorphism-onychodysplasia-dysphalangism syndrome

ORPHA:1292Malf.
Autosomal dominant

Brachyolmia, Maroteaux type

ORPHA:93302Malf.
Autosomal recessive

Brachyolmia-amelogenesis imperfecta syndrome

ORPHA:2899Malf.
Autosomal recessive

Brachytelephalangic chondrodysplasia punctata

ORPHA:79345Malf.
X-linked recessive

Brachytelephalangy-dysmorphism-Kallmann syndrome

ORPHA:1295Malf.
Autosomal dominant

Braddock syndrome

ORPHA:52047Malf.
Autosomal recessive

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome

ORPHA:664410Malf.
Autosomal dominant, Not applicable

Brain malformation-congenital heart disease-postaxial polydactyly syndrome

ORPHA:75389Malf.
Unknown

Branchio-oculo-facial syndrome

ORPHA:1297Malf.
Autosomal dominant

Branchiogenic deafness syndrome

ORPHA:50815Malf.
Autosomal dominant

Branchiootic syndrome

ORPHA:52429Malf.
Autosomal dominant

Branchioskeletogenital syndrome

ORPHA:1299Malf.
Autosomal recessive, X-linked dominant

Bronchopulmonary dysplasia

ORPHA:70589Malf.
Not applicable

Bruck syndrome

ORPHA:2771Malf.
Autosomal recessive

Burn-McKeown syndrome

ORPHA:1200Malf.
Autosomal recessive