Rare Disease Library

Griscelli syndrome type 3

Griscelli-Pruniéras syndrome type 3

Heart-hand syndrome type 3

Atriodigital dysplasia type 3 · Cardiomelic syndrome type 3

Hyper-IgM syndrome type 3

HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

Kyphoscoliotic Ehlers-Danlos syndrome

Kyphoscoliotic EDS · kEDS

Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency

Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss · FKBP22-deficient EDS

Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

EDS VIA · Ocular-scoliotic EDS

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

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

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

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Periodontal Ehlers-Danlos syndrome

Periodontal EDS · EDS VIII

Pfeiffer syndrome type 3

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

LQT8 · Long QT syndrome type 8

Timothy syndrome type 1

TS1 · LQT8 type 1