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"

12 matching diseasesClear search ×

BIDS syndrome

Amish brittle hair syndrome · Trichothiodystrophy type D

ORPHA:1245

Beta-thalassemia-trichothiodystrophy syndrome

ORPHA:231256

Brittle hair syndrome, Sabinas type

Brittle hair-mental deficiency syndrome · Trichothiodystrophy type B

ORPHA:3123

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

ORPHA:453

Myotonic dystrophy type 3

ORPHA:54238

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

ORPHA:2739

PIBIDS syndrome

Trichothiodystrophy type F · Trichothiodystrophy-sun sensitivity syndrome

ORPHA:670

Pollitt syndrome

Trichorrhexis nodosa syndrome · Trichothiodystrophy type C

ORPHA:75790

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

ORPHA:606

SIBIDS syndrome

Trichothiodystrophy-osteosclerosis syndrome

ORPHA:75789

Steinert myotonic dystrophy

Myotonic dystrophy type 1 · Steinert disease

ORPHA:273

Trichothiodystrophy

ORPHA:33364