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 ×

Isolated lower lip fistula

Isolated lower lip pits · Non-syndromic familial congenital lower lip pits

ORPHA:141064

Isolated amelia of lower limb

Isolated congenital absence of lower limb

ORPHA:294969

Isolated cleft lip

ORPHA:199302

Isolated filum lipoma

Lipoma of the filum terminale

ORPHA:645325

Isolated permanent neonatal diabetes mellitus

Monogenic diabetes of infancy · Isolated PNDM

ORPHA:99885

Isolated persistent urogenital sinus

Isolated PUGS

ORPHA:647794

Isolated primary pigmented nodular adrenocortical disease

i-PPNAD · Isolated PPNAD

ORPHA:647772