Rare Disease Library

Congenital pulmonary airway malformation type 2

CCAM type 2 · CPAM type 2

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

B4GALT1-CDG

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

CCDC115-CDG

CDG syndrome type IIo · CDG-IIo

Choledochal cyst

Congenital cystic dilatation of the biliary tract

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 CLN10 disease

CNCL · Congenital neuronal ceroid lipofuscinosis type 10

Congenital cystic eye

Congenital anophthalmos with cyst

Congenital pulmonary airway malformation

CCAM · CPAM

Congenital pulmonary airway malformation type 0

CPAM type 0 · Congenital cystic adenomatoid malformation of the lung type 0

Congenital pulmonary airway malformation type 1

CCAM type 1 · CPAM type 1

Congenital pulmonary airway malformation type 3

CCAM type 3 · CPAM type 3

Congenital pulmonary airway malformation type 4

CPAM type 4 · Congenital cystic adenomatoid malformation of the lung type 4

Congenital-onset Steinert myotonic dystrophy

Congenital-onset Steinert disease · Congenital-onset myotonic dystrophy type 1

Fetal methylmercury syndrome

Prenatal methylmercury poisoning · Congenital Minamata disease

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

SLC35A1-CDG

CDG syndrome type IIf · CDG-IIf

SLC35A2-CDG

CDG syndrome type IIm · CDG-IIm

SLC39A8-CDG

SLC39A8 deficiency · Congenital disorder of glycosylation type IIn

TMEM165-CDG

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

TMEM199-CDG

CDG syndrome type IIp · CDG-IIp

UMOD-related autosomal dominant tubulointerstitial kidney disease

UMOD-related ADTKD · ADTKD-UMOD