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"

2 matching diseasesClear search ×

Syndromic recessive X-linked ichthyosis

Syndromic RXLI · Recessive X-linked ichthyosis with extracutaneous manifestations

ORPHA:281090

Recessive X-linked ichthyosis

RXLI · Steroid sulfatase deficiency

ORPHA:461