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"

13 matching diseasesClear search ×

Lower limb malformation-hypospadias syndrome

Fried-Goldberg-Mundel syndrome

ORPHA:2487

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

ORPHA:754

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

ORPHA:1969

Focal dermal hypoplasia

Goltz syndrome · Goltz-Gorlin syndrome

ORPHA:2092

Fried syndrome

ORPHA:85335

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

ORPHA:351

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

ORPHA:66629

Goldenhar syndrome

Facioauriculovertebral sequence

ORPHA:374

Growth deficiency-brachydactyly-dysmorphism syndrome

Frias syndrome

ORPHA:2055

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

ORPHA:3032

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

ORPHA:166272

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

Lundberg syndrome

ORPHA:2928

Shprintzen-Goldberg syndrome

Marfanoid craniosynostosis syndrome · SGS

ORPHA:2462