Rare Disease Library

Cockayne syndrome type 1

Cockayne syndrome type I

Cockayne syndrome type 2

Cockayne syndrome type II

Cockayne syndrome type 3

Cockayne syndrome type III

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

Congenital muscular dystrophy with intellectual disability and severe epilepsy

CDG syndrome type Iu · CDG-Iu

Craniomicromelic syndrome

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

DDOST-CDG

CDG syndrome type Ir · CDG-Ir

Dermato-cardio-skeletal syndrome, Borrone type

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

DK1-CDG

Dolichol kinase deficiency · Hypotonia and ichthyosis due to dolichol phosphate deficiency

DPAGT1-CDG

CDG syndrome type Ij · CDG-Ij

DPM1-CDG

CDG syndrome type Ie · CDG-Ie

DPM3-CDG

CDG syndrome type Io · CDG-Io

Dysequilibrium syndrome

CAMRQ syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

FG syndrome type 1

Opitz-Kaveggia syndrome

Griscelli syndrome type 1

Griscelli-Pruniéras syndrome type 1 · Hypopigmentation-neurologic impairment syndrome

Griscelli syndrome type 2

Griscelli-Pruniéras syndrome type 2 · Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome

Griscelli syndrome type 3

Griscelli-Pruniéras syndrome type 3

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Hyper-IgM syndrome type 3

HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

Hyper-IgM syndrome type 4

HIGM4

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

Hypermobile Ehlers-Danlos syndrome

EDS-HT · Ehlers-Danlos syndrome hypermobility type

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

Junctional epidermolysis bullosa with pyloric atresia

Carmi syndrome · JEB-PA

Leukocyte adhesion deficiency type II

CDG syndrome type IIc · CDG-IIc

Marfan syndrome type 1

MFS1

Marfan syndrome type 2

MFS2

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

MPDU1-CDG

CDG syndrome type If · CDG-If

MPI-CDG

CDG syndrome type Ib · CDG-Ib

Mucopolysaccharidosis type 2, attenuated form

Hunter syndrome type B · Iduronate 2-sulfatase deficiency type B