Rare Disease Library

Congenital pulmonary airway malformation type 1

CCAM type 1 · CPAM type 1

ALG1-CDG

CDG syndrome type Ik · CDG-Ik

ALG11-CDG

CDG syndrome type Ip · CDG-Ip

ALG12-CDG

CDG syndrome type Ig · CDG-Ig

ALG13-CDG

Congenital disorder of glycosylation type Is · CDG syndrome type Is

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

ALG3-CDG

CDG syndrome type Id · CDG-Id

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

ALG9-CDG

CDG syndrome type IL · CDG1L

CAD-CDG

CDG-Iz · Congenital disorder of glycosylation type 1z

Choledochal cyst

Congenital cystic dilatation of the biliary tract

Congenital CLN10 disease

CNCL · Congenital neuronal ceroid lipofuscinosis type 10

Congenital cystic eye

Congenital anophthalmos with cyst

Congenital muscular dystrophy with intellectual disability and severe epilepsy

CDG syndrome type Iu · CDG-Iu

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 2

CCAM type 2 · CPAM type 2

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

DDOST-CDG

CDG syndrome type Ir · CDG-Ir

DK1-CDG

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

DPAGT1-CDG

CDG syndrome type Ij · CDG-Ij

DPM1-CDG

CDG syndrome type Ie · CDG-Ie

DPM3-CDG

CDG syndrome type Io · CDG-Io

Fetal methylmercury syndrome

Prenatal methylmercury poisoning · Congenital Minamata disease

MPDU1-CDG

CDG syndrome type If · CDG-If

MPI-CDG

CDG syndrome type Ib · CDG-Ib

MUC1-related autosomal dominant tubulointerstitial kidney disease

MUC1-related medullary cystic kidney disease · MUCI-related ADTKD

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

SRD5A3-CDG

CDG-Iq · CDG1Q

SSR4-CDG

CDG syndrome type Iy · CDG-Iy

STT3A-CDG

CDG syndrome type Iw · CDG-Iw

STT3B-CDG

CDG syndrome type Ix · CDG-Ix