MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Bleeding diathesis due to integrin alpha2-beta1 deficiency

ORPHA:98886Etio. sub.
Autosomal dominant

Bleeding diathesis due to thromboxane synthesis deficiency

ORPHA:220443Disease

Bleeding disorder due to CalDAG-GEFI deficiency

ORPHA:420566Disease
Autosomal recessive

Bleeding disorder due to P2Y12 defect

ORPHA:36355Disease
Autosomal recessive

Bleeding disorder in hemophilia A carriers

ORPHA:177926Clin. sub.
X-linked recessive

Bleeding disorder in hemophilia B carriers

ORPHA:177929Clin. sub.
X-linked recessive

Blepharo-cheilo-odontic syndrome

ORPHA:1997Malform.
Autosomal dominant

Blepharonasofacial malformation syndrome

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

Blepharophimosis-intellectual disability syndrome

ORPHA:293642Clin. grp.
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive

Blepharophimosis-intellectual disability syndrome, MKB type

ORPHA:293707Malform.
X-linked recessive

Blepharophimosis-intellectual disability syndrome, Ohdo type

ORPHA:2728Malform.
Not applicable

Blepharophimosis-intellectual disability syndrome, SBBYS type

ORPHA:3047Malform.
Autosomal dominant

Blepharophimosis-intellectual disability syndrome, Verloes type

ORPHA:293725Malform.
Unknown

Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome

ORPHA:597746Malform.

Blepharophimosis-ptosis-epicanthus inversus syndrome

ORPHA:126Malform.
Autosomal dominant, Not applicable

Blepharophimosis-ptosis-epicanthus inversus syndrome plus

ORPHA:572333Malform.

Blepharophimosis-ptosis-epicanthus inversus syndrome type 1

ORPHA:572354Clin. sub.
Autosomal recessive

Blepharophimosis-ptosis-epicanthus inversus syndrome type 2

ORPHA:572361Clin. sub.
Autosomal dominant

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

ORPHA:2057Malform.
Autosomal recessive

Blepharoptosis-myopia-ectopia lentis syndrome

ORPHA:1259Disease
Autosomal dominant

Blepharospasm-oromandibular dystonia syndrome

ORPHA:93964Disease

Blindness-scoliosis-arachnodactyly syndrome

ORPHA:171844Malform.
Autosomal dominant

Blomstrand lethal chondrodysplasia

ORPHA:50945Malform.
Autosomal recessive

Bloom syndrome

ORPHA:125Disease
Autosomal recessive