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"

10 matching diseasesClear search ×

Cloverleaf skull-asphyxiating thoracic dysplasia syndrome

Benallegue-Lacete syndrome

ORPHA:100978

Behr syndrome

Behr complicated familial optic atrophy

ORPHA:1239

Bencze syndrome

Hemifacial hyperplasia-strabismus syndrome

ORPHA:1241

Blue rubber bleb nevus

Bean syndrome · BRBN

ORPHA:1059

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

ORPHA:115

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

ORPHA:90024

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

ORPHA:2363

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

ORPHA:633

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

ORPHA:54247

X-linked fetal akinesia syndrome

Holmes-Benacerraf syndrome

ORPHA:995