Rare Disease Library

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

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

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Orofaciodigital syndrome type 6

Joubert syndrome with oral-facial-digital syndrome · OFD6

Parana hard skin syndrome

Hard skin syndrome, Parana type

Peeling skin syndrome type A

Generalized peeling skin syndrome type A · Non-inflammatory generalized peeling skin syndrome type A.

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome

Periodontal Ehlers-Danlos syndrome

Periodontal EDS · EDS VIII

Perrault syndrome type 1

XX gonadal dysgenesis-deafness syndrome-without neurological manifestations

Perrault syndrome type 2

XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

Pfeiffer syndrome type 2

Pfeiffer syndrome type 3

PGM1-CDG

CDG syndrome type It · CDG-It

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

Primary ciliary dyskinesia, Kartagener type

Dextrocardia-bronchiectasis-sinusitis syndrome · Immotile cilia syndrome, Kartagener type

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Pseudo-TORCH syndrome type 1

Band like calcification with simplified gyration and polymicrogyria · BLC-PMG

Pseudo-TORCH syndrome type 2

Pseudo-TORCH syndrome-2 · PTORCH2

RFT1-CDG

CDG1N · Carbohydrate deficient glycoprotein syndrome type In

Roberts syndrome

Pseudothalidomide syndrome · Roberts-SC phocomelia syndrome

Sanfilippo syndrome type A

Mucopolysaccharidosis type IIIA · Heparan sulfamidase deficiency

Sanfilippo syndrome type B

MPS3B · MPSIIIB

Sanfilippo syndrome type C

HGSNAT deficiency · Heparan-alpha-glucosaminide N-acetyltransferase deficiency

Sanfilippo syndrome type D

GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

SHORT syndrome

Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome

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

SRD5A3-CDG

CDG-Iq · CDG1Q

SSR4-CDG

CDG syndrome type Iy · CDG-Iy

Stickler syndrome type 1

Stickler syndrome type 2

STT3A-CDG

CDG syndrome type Iw · CDG-Iw

STT3B-CDG

CDG syndrome type Ix · CDG-Ix

Stüve-Wiedemann syndrome

STWS · Stüve-Wiedemann dysplasia

TARP syndrome

Pierre Robin sequence-congenital heart defect-talipes syndrome · Pierre Robin syndrome-congenital heart defect-talipes syndrome

Thrombocytopenia-absent radius syndrome

TAR syndrome

Timothy syndrome

LQT8 · Long QT syndrome type 8

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