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"

16 matching diseasesClear search ×

Mandibuloacral dysplasia associated to MTX2

Mandibuloacral dysplasia progeroid syndrome · MADaM

ORPHA:647667

Acro-renal-mandibular syndrome

Split hand/split foot-mandibular hypoplasia syndrome

ORPHA:958

Atypical Werner syndrome

Atypical progeroid syndrome

ORPHA:79474

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

ORPHA:2962

Ectodermal dysplasia syndrome

Ectodermal dysplasia

ORPHA:79373

Fontaine progeroid syndrome

ORPHA:697101

Genetic progeroid syndrome

ORPHA:363245

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

ORPHA:363649

Mandibuloacral dysplasia

MAD

ORPHA:2457

Mandibuloacral dysplasia with type A lipodystrophy

MADA

ORPHA:90153

Mandibuloacral dysplasia with type B lipodystrophy

ORPHA:90154

Progeroid syndrome

ORPHA:139033

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

ORPHA:2963

Senior-Loken syndrome

Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome

ORPHA:3156

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