MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Bleeding diathesis due to integrin alpha2-beta1 deficiency

ORPHA:98886Этиол. подтип
Autosomal dominant

Bleeding diathesis due to thromboxane synthesis deficiency

ORPHA:220443Заболевание

Bleeding disorder due to CalDAG-GEFI deficiency

ORPHA:420566Заболевание
Autosomal recessive

Bleeding disorder due to P2Y12 defect

ORPHA:36355Заболевание
Autosomal recessive

Bleeding disorder in hemophilia A carriers

ORPHA:177926Клин. подтип
X-linked recessive

Bleeding disorder in hemophilia B carriers

ORPHA:177929Клин. подтип
X-linked recessive

Blepharo-cheilo-odontic syndrome

ORPHA:1997Мальформация
Autosomal dominant

Blepharonasofacial malformation syndrome

ORPHA:1252Мальформация
Autosomal dominant, X-linked dominant

Blepharophimosis-intellectual disability syndrome

ORPHA:293642Клин. группа
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive

Blepharophimosis-intellectual disability syndrome, MKB type

ORPHA:293707Мальформация
X-linked recessive

Blepharophimosis-intellectual disability syndrome, Ohdo type

ORPHA:2728Мальформация
Not applicable

Blepharophimosis-intellectual disability syndrome, SBBYS type

ORPHA:3047Мальформация
Autosomal dominant

Blepharophimosis-intellectual disability syndrome, Verloes type

ORPHA:293725Мальформация
Unknown

Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome

ORPHA:597746Мальформация

Blepharophimosis-ptosis-epicanthus inversus syndrome

ORPHA:126Мальформация
Autosomal dominant, Not applicable

Blepharophimosis-ptosis-epicanthus inversus syndrome plus

ORPHA:572333Мальформация

Blepharophimosis-ptosis-epicanthus inversus syndrome type 1

ORPHA:572354Клин. подтип
Autosomal recessive

Blepharophimosis-ptosis-epicanthus inversus syndrome type 2

ORPHA:572361Клин. подтип
Autosomal dominant

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

ORPHA:2057Мальформация
Autosomal recessive

Blepharoptosis-myopia-ectopia lentis syndrome

ORPHA:1259Заболевание
Autosomal dominant

Blepharospasm-oromandibular dystonia syndrome

ORPHA:93964Заболевание

Blindness-scoliosis-arachnodactyly syndrome

ORPHA:171844Мальформация
Autosomal dominant

Blomstrand lethal chondrodysplasia

ORPHA:50945Мальформация
Autosomal recessive

Bloom syndrome

ORPHA:125Заболевание
Autosomal recessive