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"

10 matching diseasesClear search ×

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

ORPHA:2963

Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency

Stüve-Wiedemann syndrome type 2 · AR CID due to complete GP130 deficiency

ORPHA:656283

Beckwith-Wiedemann syndrome

BWS · Exomphalos-macroglossia-gigantism syndrome

ORPHA:116

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

ORPHA:2379

Neu-Laxova syndrome

ORPHA:2671

OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome

OBSOLETE: Wiedemann-Oldigs-Oppermann syndrome

ORPHA:2156

Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome

Ectodermal dysplasia-adrenal cyst syndrome · Tuffli-Laxova syndrome

ORPHA:3391

Stüve-Wiedemann syndrome

STWS · Stüve-Wiedemann dysplasia

ORPHA:3206

Wiedemann-Rautenstrauch syndrome

Neonatal progeroid syndrome

ORPHA:3455

Wiedemann-Steiner syndrome

Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

ORPHA:319182