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 ×

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

Devriendt-Vandenberghe-Fryns syndrome

ORPHA:1014

Alopecia-hypogonadism-extrapyramidal syndrome

Devriendt-Legius-Fryns syndrome

ORPHA:1011

Brain malformation-congenital heart disease-postaxial polydactyly syndrome

Goossens-Devriendt syndrome

ORPHA:75389

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

OBSOLETE: Lethal chondrodysplasia, Moerman type

OBSOLETE: Moerman-Vandenberghe-Fryns syndrome

ORPHA:1420

Symbrachydactyly of hands and feet

De Smet-Fabry-Fryns syndrome

ORPHA:1570

Ulnar hypoplasia-split foot syndrome

Ulnar hypoplasia-lobster-claw deformity of feet syndrome · Van den Berghe-Dequecker syndrome

ORPHA:1122