Rare Disease Library

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

B4GALT1-CDG

Beta-1,4-galactosyltransferase deficiency · CDG syndrome type IId

CCDC115-CDG

CDG syndrome type IIo · CDG-IIo

COG1-CDG

Congenital disorder of glycosylation type 2g · CDG syndrome type IIg

COG4-CDG

Congenital disorder of glycosylation type 2j · CDG syndrome type IIj

COG5-CDG

CDG syndrome type IIi · CDG-IIi

COG6-CGD

CDG2L · CDG syndrome type IIL

COG7-CDG

CDG syndrome type IIe · CDG-IIe

COG8-CDG

CDG syndrome type IIh · CDG-IIh

Leukocyte adhesion deficiency type II

CDG syndrome type IIc · CDG-IIc

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

SLC35A1-CDG

CDG syndrome type IIf · CDG-IIf

SLC35A2-CDG

CDG syndrome type IIm · CDG-IIm

SLC39A8-CDG

SLC39A8 deficiency · Congenital disorder of glycosylation type IIn

TMEM165-CDG

Carbohydrate deficient glycoprotein syndrome type IIk · Congenital disorder of glycosylation type 2k

TMEM199-CDG

CDG syndrome type IIp · CDG-IIp

22q11.2 deletion syndrome

22q11DS · CATCH 22

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

Aase-Smith syndrome type 1

Aase-Smith I syndrome · Hydrocephalus-cleft palate-joint contractures syndrome

Acrocardiofacial syndrome

ACFS · CCGE syndrome

Acropectorovertebral dysplasia

F syndrome

ALG1-CDG

CDG syndrome type Ik · CDG-Ik

ALG11-CDG

CDG syndrome type Ip · CDG-Ip

ALG12-CDG

CDG syndrome type Ig · CDG-Ig

ALG13-CDG

Congenital disorder of glycosylation type Is · CDG syndrome type Is

ALG3-CDG

CDG syndrome type Id · CDG-Id

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

ALG9-CDG

CDG syndrome type IL · CDG1L

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type

Andersen-Tawil syndrome

Andersen syndrome · LQT7

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Arthrochalasia Ehlers-Danlos syndrome

EDS VII · Ehlers-Danlos syndrome type 7

Arthrogryposis multiplex congenita-whistling face syndrome

Illum syndrome

Autoimmune interstitial lung disease-arthritis syndrome

COPA syndrome

Autosomal dominant otospondylomegaepiphyseal dysplasia

AD OSMED · Stickler syndrome type 3

Bartter syndrome type 1

Bartter syndrome type I

Bartter syndrome type 2

Bartter syndrome type II

Bartter syndrome type 3

Bartter syndrome type III

Bartter syndrome type 4

Bartter syndrome with sensorineural hearing loss · Bartter syndrome with sensorineural deafness

Biemond syndrome type 2

Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

Bowen-Conradi syndrome

Bowen syndrome, Hutterite type

C syndrome

OTCS · Opitz C trigonocephaly

CACH syndrome

Childhood ataxia with diffuse central nervous system hypomyelination · Leukoencephalopathy with vanishing white matter

CAD-CDG

CDG-Iz · Congenital disorder of glycosylation type 1z

CAMFAK syndrome

CAMAK syndrome · Cataract-microcephaly-arthrogryposis-kyphosis syndrome