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"

83 matching diseasesClear search ×

MPI-CDG

CDG syndrome type Ib · CDG-Ib

ORPHA:79319

Mucopolysaccharidosis type 2, attenuated form

Hunter syndrome type B · Iduronate 2-sulfatase deficiency type B

ORPHA:217093

Mucopolysaccharidosis type 2, severe form

Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A

ORPHA:217085

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

ORPHA:647

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

ORPHA:3032

Perrault syndrome type 1

XX gonadal dysgenesis-deafness syndrome-without neurological manifestations

ORPHA:642945

Perrault syndrome type 2

XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations

ORPHA:642976

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

ORPHA:93258

Pfeiffer syndrome type 2

ORPHA:93259

Pfeiffer syndrome type 3

ORPHA:93260

PGM1-CDG

CDG syndrome type It · CDG-It

ORPHA:319646

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

ORPHA:79318

Pseudo-Meigs syndrome

Pseudo-Demons-Meigs syndrome

ORPHA:314459

Pseudo-TORCH syndrome type 1

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

ORPHA:1229

Pseudo-TORCH syndrome type 2

Pseudo-TORCH syndrome-2 · PTORCH2

ORPHA:481665

Pseudo-Zellweger syndrome

Thiolase deficiency

ORPHA:2981

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

ORPHA:2976

Pseudoprogeria syndrome

Hal-Berg-Rudolph syndrome · Absent eyebrows and eyelashes-intellectual disability syndrome

ORPHA:2985

RFT1-CDG

CDG1N · Carbohydrate deficient glycoprotein syndrome type In

ORPHA:244310

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

SRD5A3-CDG

CDG-Iq · CDG1Q

ORPHA:324737

SSR4-CDG

CDG syndrome type Iy · CDG-Iy

ORPHA:370927

Stickler syndrome type 2

ORPHA:90654

STT3A-CDG

CDG syndrome type Iw · CDG-Iw

ORPHA:370921

STT3B-CDG

CDG syndrome type Ix · CDG-Ix

ORPHA:370924

Timothy syndrome type 1

TS1 · LQT8 type 1

ORPHA:595098

Timothy syndrome type 2

TS2 · LQT8 type 2

ORPHA:595105

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

Usher syndrome type 1

USH1

ORPHA:231169

Usher syndrome type 2

USH2

ORPHA:231178

Usher syndrome type 3

USH3

ORPHA:231183

Waardenburg syndrome type 2

WS2 · Waardenburg syndrome type II

ORPHA:895