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"

80 matching diseasesClear search ×

OBSOLETE: Cerebrorenodigital syndrome

ORPHA:1396

Oculo-palato-cerebral syndrome

Oculo-palato-cerebral dwarfism

ORPHA:2714

Oculocerebrofacial syndrome, Kaufman type

ORPHA:2707

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

ORPHA:534

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

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

ORPHA:2963

RFT1-CDG

CDG1N · Carbohydrate deficient glycoprotein syndrome type In

ORPHA:244310

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

ORPHA:140969

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

ORPHA:2715

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

STT3A-CDG

CDG syndrome type Iw · CDG-Iw

ORPHA:370921

STT3B-CDG

CDG syndrome type Ix · CDG-Ix

ORPHA:370924

Thyrocerebrorenal syndrome

Cutler-Bass-Romshe syndrome

ORPHA:3327

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

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

ORPHA:101088

Zellweger syndrome

Cerebrohepatorenal syndrome · ZS

ORPHA:912