Rare Disease Library

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

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

Mucopolysaccharidosis type 2, severe form

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

Musculocontractural Ehlers-Danlos syndrome

Musculocontractural EDS · mcEDS

Myopathic Ehlers-Danlos syndrome

Myopathic EDS · EDS/myopathy overlap syndrome

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

OBSOLETE: Ehlers-Danlos syndrome type 1

OBSOLETE: EDS I

OBSOLETE: Ehlers-Danlos syndrome type 2

OBSOLETE: EDS II

OBSOLETE: Ehlers-Danlos syndrome type 7A

OBSOLETE: EDS VIIA

OBSOLETE: Ehlers-Danlos syndrome type 7B

OBSOLETE: EDS VIIB

OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type

OBSOLETE: Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality · OBSOLETE: EDS X

Periodontal Ehlers-Danlos syndrome

Periodontal EDS · EDS VIII

PGM1-CDG

CDG syndrome type It · CDG-It

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

RFT1-CDG

CDG1N · Carbohydrate deficient glycoprotein syndrome type In

Sanfilippo syndrome type D

GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency

SLC35A1-CDG

CDG syndrome type IIf · CDG-IIf

SLC35A2-CDG

CDG syndrome type IIm · CDG-IIm

SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

SCD-EDS · SLC39A13-related spEDS

SLC39A8-CDG

SLC39A8 deficiency · Congenital disorder of glycosylation type IIn

Spondylodysplastic Ehlers-Danlos syndrome

spEDS · Spondylodysplastic EDS

SRD5A3-CDG

CDG-Iq · CDG1Q

SSR4-CDG

CDG syndrome type Iy · CDG-Iy

Stickler syndrome type 1

Stickler syndrome type 2

STT3A-CDG

CDG syndrome type Iw · CDG-Iw

STT3B-CDG

CDG syndrome type Ix · CDG-Ix

Timothy syndrome type 1

TS1 · LQT8 type 1

Timothy syndrome type 2

TS2 · LQT8 type 2

TMEM165-CDG

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

TMEM199-CDG

CDG syndrome type IIp · CDG-IIp

Usher syndrome type 1

USH1

Usher syndrome type 2

USH2

Usher syndrome type 3

USH3

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4

Vascular Ehlers-Danlos-polymicrogyria syndrome

Vascular EDS with polymicrogyria

Vascular-like classical Ehlers-Danlos syndrome

Classical EDS due to COL1A1 p.(Arg312Cys) · Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys)

X-linked Ehlers-Danlos syndrome

EDS V · Ehlers-Danlos syndrome type 5