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"

15 matching diseasesClear search ×

Virus-associated trichodysplasia spinulosa

Cyclosporine-induced folliculodystrophy · Pilomatrix dysplasia

ORPHA:228379

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

ORPHA:3027

Dentin dysplasia

DD

ORPHA:1653

Dysplasia of head of femur, Meyer type

Meyer dysplasia · DECF

ORPHA:168621

Epiphyseal stippling-osteoclastic hyperplasia syndrome

Pacman dysplasia

ORPHA:1952

Greenberg dysplasia

Hydrops-ectopic calcification-motheaten syndrome · Skeletal dysplasia, Greenberg type

ORPHA:1426

Heart-hand syndrome

Atriodigital dysplasia

ORPHA:228184

Kniest dysplasia

ORPHA:485

Metatropic dysplasia

Metatropic dwarfism

ORPHA:2635

Parastremmatic dysplasia

Parastremmatic dwarfism

ORPHA:2646

Piepkorn dysplasia

Short ribs-craniosynostosis-polysyndactyly syndrome

ORPHA:156723

Pilomatrix carcinoma

Calcified epithelial carcinoma of Malherbe · Calcifying epitheliocarcinoma

ORPHA:499182

Pilomatrixoma

Epithelioma calcificans of Malherbe · Pilomatricoma

ORPHA:91414

Renal dysplasia

Kidney dysplasia

ORPHA:93108

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

SED-BDS · Tattoo dysplasia

ORPHA:163654