Rare Disease Library

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

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

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Parana hard skin syndrome

Hard skin syndrome, Parana type

PGM1-CDG

CDG syndrome type It · CDG-It

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

RFT1-CDG

CDG1N · Carbohydrate deficient glycoprotein syndrome type In

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

Split hand-split foot-deafness syndrome

Split hand-split foot-hearing loss syndrome

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

Tako-Tsubo cardiomyopathy

Ampulla cardiomyopathy · Apical ballooning syndrome

Timothy syndrome type 1

TS1 · LQT8 type 1

Timothy syndrome type 2

TS2 · LQT8 type 2

TMEM165-CDG

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

TMEM199-CDG

CDG syndrome type IIp · CDG-IIp

Usher syndrome type 1

USH1

Usher syndrome type 2

USH2

Usher syndrome type 3

USH3

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency