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"

96 matching diseasesClear search ×

Hyper-IgM syndrome type 4

HIGM4

ORPHA:101091

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

ORPHA:101092

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

ORPHA:475

Leukocyte adhesion deficiency type II

CDG syndrome type IIc · CDG-IIc

ORPHA:99843

Marfan syndrome type 1

MFS1

ORPHA:284963

Marfan syndrome type 2

MFS2

ORPHA:284973

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

ORPHA:247775

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

ORPHA:2578

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

ORPHA:79329

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

ORPHA:79330

MPDU1-CDG

CDG syndrome type If · CDG-If

ORPHA:79323

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

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

ORPHA:3032

OBSOLETE: Peeling skin syndrome type C

OBSOLETE: Generalized deciduous skin type C · OBSOLETE: Generalized peeling skin syndrome type C

ORPHA:263558

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

ORPHA:2825

Peeling skin syndrome

Deciduous skin · Familial continuous skin peeling syndrome

ORPHA:817

Peeling skin syndrome type A

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

ORPHA:263548

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome

ORPHA:263553

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

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 1

ORPHA:90653

Stickler syndrome type 2

ORPHA:90654

Stiff skin syndrome

ORPHA:2833

STT3A-CDG

CDG syndrome type Iw · CDG-Iw

ORPHA:370921

STT3B-CDG

CDG syndrome type Ix · CDG-Ix

ORPHA:370924

Timothy syndrome

LQT8 · Long QT syndrome type 8

ORPHA:65283

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

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

ORPHA:101088