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"

8 matching diseasesClear search ×

Arachnodactyly-intellectual disability-dysmorphism syndrome

De Die-Smulders-Vles-Fryns syndrome

ORPHA:1130

Autosomal recessive distal osteolysis syndrome

Distal osteolysis-short stature-intellectual disability syndrome · Petit-Fryns syndrome

ORPHA:2776

Cerebro-oculo-facial-lymphatic syndrome

Fryns-Aftimos syndrome

ORPHA:94084

Distal limb deficiencies-micrognathia syndrome

10q24 microduplication syndrome · Buttiens-Fryns syndrome

ORPHA:1307

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

ORPHA:2059

Fryns-Smeets-Thiry syndrome

ORPHA:2058

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

ORPHA:776

Symbrachydactyly of hands and feet

De Smet-Fabry-Fryns syndrome

ORPHA:1570