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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Bleeding diathesis due to integrin alpha2-beta1 deficiency

ORPHA:98886Этиол. подт.
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. подт.
X-linked recessive

Bleeding disorder in hemophilia B carriers

ORPHA:177929Клин. подт.
X-linked recessive

Blepharo-cheilo-odontic syndrome

ORPHA:1997Порок
Autosomal dominant

Blepharonasofacial malformation syndrome

ORPHA:1252Порок
Autosomal dominant, X-linked dominant

Blepharophimosis-intellectual disability syndrome

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

Blepharophimosis-intellectual disability syndrome, MKB type

ORPHA:293707Порок
X-linked recessive

Blepharophimosis-intellectual disability syndrome, Ohdo type

ORPHA:2728Порок
Not applicable

Blepharophimosis-intellectual disability syndrome, SBBYS type

ORPHA:3047Порок
Autosomal dominant

Blepharophimosis-intellectual disability syndrome, Verloes type

ORPHA:293725Порок
Unknown

Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome

ORPHA:597746Порок

Blepharophimosis-ptosis-epicanthus inversus syndrome

ORPHA:126Порок
Autosomal dominant, Not applicable

Blepharophimosis-ptosis-epicanthus inversus syndrome plus

ORPHA:572333Порок

Blepharophimosis-ptosis-epicanthus inversus syndrome type 1

ORPHA:572354Клин. подт.
Autosomal recessive

Blepharophimosis-ptosis-epicanthus inversus syndrome type 2

ORPHA:572361Клин. подт.
Autosomal dominant

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

ORPHA:2057Порок
Autosomal recessive

Blepharoptosis-myopia-ectopia lentis syndrome

ORPHA:1259Заболевание
Autosomal dominant

Blepharospasm-oromandibular dystonia syndrome

ORPHA:93964Заболевание

Blindness-scoliosis-arachnodactyly syndrome

ORPHA:171844Порок
Autosomal dominant

Blomstrand lethal chondrodysplasia

ORPHA:50945Порок
Autosomal recessive

Bloom syndrome

ORPHA:125Заболевание
Autosomal recessive