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

Blepharophimosis-intellectual disability syndrome, Ohdo type

ORPHA:2728Malf.
Not applicable

Blepharophimosis-intellectual disability syndrome, SBBYS type

ORPHA:3047Malf.
Autosomal dominant

Blepharophimosis-intellectual disability syndrome, Verloes type

ORPHA:293725Malf.
Unknown

Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome

ORPHA:597746Malf.

Blepharophimosis-ptosis-epicanthus inversus syndrome

ORPHA:126Malf.
Autosomal dominant, Not applicable

Blepharophimosis-ptosis-epicanthus inversus syndrome plus

ORPHA:572333Malf.

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

ORPHA:2057Malf.
Autosomal recessive

Blindness-scoliosis-arachnodactyly syndrome

ORPHA:171844Malf.
Autosomal dominant

Blomstrand lethal chondrodysplasia

ORPHA:50945Malf.
Autosomal recessive

Blount disease

ORPHA:2768Malf.
Autosomal recessive

Blue rubber bleb nevus

ORPHA:1059Malf.
Autosomal dominant, Not applicable

Bohring-Opitz syndrome

ORPHA:97297Malf.
Autosomal dominant

Bone dysplasia, lethal Holmgren type

ORPHA:1842Malf.
Autosomal recessive

Bonnemann-Meinecke-Reich syndrome

ORPHA:1261Malf.
Autosomal recessive

Borjeson-Forssman-Lehmann syndrome

ORPHA:127Malf.
X-linked recessive

Bosley-Salih-Alorainy syndrome

ORPHA:69737Malf.
Autosomal recessive

Bowen-Conradi syndrome

ORPHA:1270Malf.
Autosomal recessive

Brachydactyly type A1

ORPHA:93388Malf.
Autosomal dominant

Brachydactyly type A2

ORPHA:93396Malf.
Autosomal dominant

Brachydactyly type A4

ORPHA:93394Malf.
Autosomal dominant

Brachydactyly type A6

ORPHA:93382Malf.
Autosomal dominant

Brachydactyly type A7

ORPHA:93397Malf.

Brachydactyly type B

ORPHA:93383Malf.
Autosomal dominant

Brachydactyly type C

ORPHA:93384Malf.
Autosomal dominant, Autosomal recessive