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"

17 matching diseasesClear search ×

Leukocyte adhesion deficiency type II

CDG syndrome type IIc · CDG-IIc

ORPHA:99843

B4GALT1-CDG

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

ORPHA:79332

CCDC115-CDG

CDG syndrome type IIo · CDG-IIo

ORPHA:468684

COG1-CDG

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

ORPHA:263508

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

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

ORPHA:79329

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

ORPHA:79330

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

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