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"

9 matching diseasesClear search ×

Ventriculomegaly-cystic kidney disease

Congenital nephrosis-cerebral ventriculomegaly syndrome · VMCKD

ORPHA:443988

Congenital and infantile nephrotic syndrome

ORPHA:97556

Congenital central hypoventilation syndrome

CCHS · Ondine syndrome

ORPHA:661

Congenital nephrotic syndrome, Finnish type

Finnish congenital nephrosis

ORPHA:839

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome · VPS45 deficiency

ORPHA:369852

Congenital varicella syndrome

Mother-to-child transmission of varicella syndrome · Antenatal varicella virus infection

ORPHA:291

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

ORPHA:91132

Oley syndrome

Congenital hypotrichosis-milia syndrome

ORPHA:79458

Pierson syndrome

Microcoria-congenital nephrosis syndrome

ORPHA:2670