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"

7 matching diseasesClear search ×

Neurofaciodigitorenal syndrome

Freire Maia-Pinheiro-Opitz syndrome

ORPHA:2673

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

ORPHA:2379

FG syndrome type 1

Opitz-Kaveggia syndrome

ORPHA:93932

Oculotrichodysplasia

Cecato de Lima-Pinheiro syndrome

ORPHA:2718

Odontotrichomelic syndrome

Freire-Maia syndrome

ORPHA:2723

Opitz GBBB syndrome

Hypertelorism-oesophageal abnormality-hypospadias syndrome · Hypospadias-dysphagia syndrome

ORPHA:2745

Trichodermodysplasia-dental alterations syndrome

Pinheiro-Freire Maia-Miranda syndrome

ORPHA:3353