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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Bleeding diathesis due to integrin alpha2-beta1 deficiency

ORPHA:98886Этио. под.
Autosomal dominant

Bleeding diathesis due to thromboxane synthesis deficiency

ORPHA:220443Ауру

Bleeding disorder due to CalDAG-GEFI deficiency

ORPHA:420566Ауру
Autosomal recessive

Bleeding disorder due to P2Y12 defect

ORPHA:36355Ауру
Autosomal recessive

Bleeding disorder in hemophilia A carriers

ORPHA:177926Клин. под.
X-linked recessive

Bleeding disorder in hemophilia B carriers

ORPHA:177929Клин. под.
X-linked recessive

Blepharo-cheilo-odontic syndrome

ORPHA:1997Мальф.
Autosomal dominant

Blepharonasofacial malformation syndrome

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

Blepharophimosis-intellectual disability syndrome

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

Blepharophimosis-intellectual disability syndrome, MKB type

ORPHA:293707Мальф.
X-linked recessive

Blepharophimosis-intellectual disability syndrome, Ohdo type

ORPHA:2728Мальф.
Not applicable

Blepharophimosis-intellectual disability syndrome, SBBYS type

ORPHA:3047Мальф.
Autosomal dominant

Blepharophimosis-intellectual disability syndrome, Verloes type

ORPHA:293725Мальф.
Unknown

Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome

ORPHA:597746Мальф.

Blepharophimosis-ptosis-epicanthus inversus syndrome

ORPHA:126Мальф.
Autosomal dominant, Not applicable

Blepharophimosis-ptosis-epicanthus inversus syndrome plus

ORPHA:572333Мальф.

Blepharophimosis-ptosis-epicanthus inversus syndrome type 1

ORPHA:572354Клин. под.
Autosomal recessive

Blepharophimosis-ptosis-epicanthus inversus syndrome type 2

ORPHA:572361Клин. под.
Autosomal dominant

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

ORPHA:2057Мальф.
Autosomal recessive

Blepharoptosis-myopia-ectopia lentis syndrome

ORPHA:1259Ауру
Autosomal dominant

Blepharospasm-oromandibular dystonia syndrome

ORPHA:93964Ауру

Blindness-scoliosis-arachnodactyly syndrome

ORPHA:171844Мальф.
Autosomal dominant

Blomstrand lethal chondrodysplasia

ORPHA:50945Мальф.
Autosomal recessive

Bloom syndrome

ORPHA:125Ауру
Autosomal recessive