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"

105 matching diseasesClear search ×

Thumb deformity-alopecia-pigmentation anomaly syndrome

Sparse hair-short stature-skin anomalies syndrome

ORPHA:2251

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome

ORPHA:3363

Typical urticaria pigmentosa

ORPHA:158766

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

ORPHA:101088

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

ORPHA:85332

X-linked reticulate pigmentary disorder

Familial cutaneous amyloidosis · PDR

ORPHA:85453

Xeroderma pigmentosum

ORPHA:910

Xeroderma pigmentosum variant

XPV

ORPHA:90342

Xeroderma pigmentosum-Cockayne syndrome complex

XP/CS complex

ORPHA:220295