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"

54 matching diseasesClear search ×

OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral

OBSOLETE: Thumb hypodactyly, bilateral · OBSOLETE: Thumb oligodactyly, bilateral

ORPHA:295112

OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral

OBSOLETE: Thumb hypodactyly, unilateral · OBSOLETE: Thumb oligodactyly, unilateral

ORPHA:295110

OBSOLETE: Congenital adrenal hypoplasia of maternal cause

ORPHA:95701

OBSOLETE: Congenital unilateral pulmonary hypoplasia

ORPHA:2258

OBSOLETE: Isolated optic nerve hypoplasia/aplasia

ORPHA:137902

X-linked adrenal hypoplasia congenita

X-linked congenital adrenal hypoplasia · X-linked AHC

ORPHA:95702