MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Bleeding diathesis due to integrin alpha2-beta1 deficiency

ORPHA:98886Ätl. subt.
Autosomal dominant

Bleeding diathesis due to thromboxane synthesis deficiency

ORPHA:220443Kr.

Bleeding disorder due to CalDAG-GEFI deficiency

ORPHA:420566Kr.
Autosomal recessive

Bleeding disorder due to P2Y12 defect

ORPHA:36355Kr.
Autosomal recessive

Bleeding disorder in hemophilia A carriers

ORPHA:177926Kl. subt.
X-linked recessive

Bleeding disorder in hemophilia B carriers

ORPHA:177929Kl. subt.
X-linked recessive

Blepharo-cheilo-odontic syndrome

ORPHA:1997Malf.
Autosomal dominant

Blepharonasofacial malformation syndrome

ORPHA:1252Malf.
Autosomal dominant, X-linked dominant

Blepharophimosis-intellectual disability syndrome

ORPHA:293642Kl. gruppe
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive

Blepharophimosis-intellectual disability syndrome, MKB type

ORPHA:293707Malf.
X-linked recessive

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-epicanthus inversus syndrome type 1

ORPHA:572354Kl. subt.
Autosomal recessive

Blepharophimosis-ptosis-epicanthus inversus syndrome type 2

ORPHA:572361Kl. subt.
Autosomal dominant

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

ORPHA:2057Malf.
Autosomal recessive

Blepharoptosis-myopia-ectopia lentis syndrome

ORPHA:1259Kr.
Autosomal dominant

Blepharospasm-oromandibular dystonia syndrome

ORPHA:93964Kr.

Blindness-scoliosis-arachnodactyly syndrome

ORPHA:171844Malf.
Autosomal dominant

Blomstrand lethal chondrodysplasia

ORPHA:50945Malf.
Autosomal recessive

Bloom syndrome

ORPHA:125Kr.
Autosomal recessive