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"

57 matching diseasesClear search ×

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

ORPHA:2963

PYCR1-related De Barsy syndrome

PYCR1 deficiency · Pyrroline-5-carboxylate reductase 1 deficiency

ORPHA:293633

RFT1-CDG

CDG1N · Carbohydrate deficient glycoprotein syndrome type In

ORPHA:244310

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

Wiedemann-Rautenstrauch syndrome

Neonatal progeroid syndrome

ORPHA:3455

Wormian bones-micrognathia-abnormal dentition-progeroid syndrome

Marbach-Rustad progeroid syndrome · LEMD2-associated nuclear envelopathy with early progeroid appearance

ORPHA:659873