Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

43 matching diseasesClear search ×

MPI-CDG

CDG syndrome type Ib · CDG-Ib

ORPHA:79319

ALG1-CDG

CDG syndrome type Ik · CDG-Ik

ORPHA:79327

ALG11-CDG

CDG syndrome type Ip · CDG-Ip

ORPHA:280071

ALG12-CDG

CDG syndrome type Ig · CDG-Ig

ORPHA:79324

ALG13-CDG

Congenital disorder of glycosylation type Is · CDG syndrome type Is

ORPHA:324422

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

ORPHA:79326

ALG3-CDG

CDG syndrome type Id · CDG-Id

ORPHA:79321

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ORPHA:79320

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

ORPHA:79325

ALG9-CDG

CDG syndrome type IL · CDG1L

ORPHA:79328

B4GALT1-CDG

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

ORPHA:79332

CAD-CDG

CDG-Iz · Congenital disorder of glycosylation type 1z

ORPHA:448010

CCDC115-CDG

CDG syndrome type IIo · CDG-IIo

ORPHA:468684

COG1-CDG

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

ORPHA:263508

COG2-CDG

COG2-related congenital disorder of glycosylation

ORPHA:435934

COG4-CDG

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

ORPHA:263501

COG5-CDG

CDG syndrome type IIi · CDG-IIi

ORPHA:263487

COG6-CGD

CDG2L · CDG syndrome type IIL

ORPHA:464443

COG7-CDG

CDG syndrome type IIe · CDG-IIe

ORPHA:79333

COG8-CDG

CDG syndrome type IIh · CDG-IIh

ORPHA:95428

Congenital disorder of glycosylation

CDG · Carbohydrate deficient glycoprotein syndrome

ORPHA:137

Congenital muscular dystrophy with intellectual disability and severe epilepsy

CDG syndrome type Iu · CDG-Iu

ORPHA:329178

DDOST-CDG

CDG syndrome type Ir · CDG-Ir

ORPHA:300536

DK1-CDG

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

ORPHA:91131

DPAGT1-CDG

CDG syndrome type Ij · CDG-Ij

ORPHA:86309

DPM1-CDG

CDG syndrome type Ie · CDG-Ie

ORPHA:79322

DPM3-CDG

CDG syndrome type Io · CDG-Io

ORPHA:263494

Leukocyte adhesion deficiency type II

CDG syndrome type IIc · CDG-IIc

ORPHA:99843

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

ORPHA:79329

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

ORPHA:79330

MPDU1-CDG

CDG syndrome type If · CDG-If

ORPHA:79323

PGM1-CDG

CDG syndrome type It · CDG-It

ORPHA:319646

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

ORPHA:79318

RFT1-CDG

CDG1N · Carbohydrate deficient glycoprotein syndrome type In

ORPHA:244310

SLC35A1-CDG

CDG syndrome type IIf · CDG-IIf

ORPHA:238459

SLC35A2-CDG

CDG syndrome type IIm · CDG-IIm

ORPHA:356961

SLC39A8-CDG

SLC39A8 deficiency · Congenital disorder of glycosylation type IIn

ORPHA:468699

SRD5A3-CDG

CDG-Iq · CDG1Q

ORPHA:324737

SSR4-CDG

CDG syndrome type Iy · CDG-Iy

ORPHA:370927

STT3A-CDG

CDG syndrome type Iw · CDG-Iw

ORPHA:370921

STT3B-CDG

CDG syndrome type Ix · CDG-Ix

ORPHA:370924

TMEM165-CDG

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

ORPHA:314667

TMEM199-CDG

CDG syndrome type IIp · CDG-IIp

ORPHA:466703