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"

34 matching diseasesClear search ×

Epiphyseal stippling-osteoclastic hyperplasia syndrome

Pacman dysplasia

ORPHA:1952

Acromelic dysplasia

ORPHA:93436

Acromicric dysplasia

ORPHA:969

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

ORPHA:295000

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

ORPHA:93347

Boomerang dysplasia

ORPHA:1263

Campomelic dysplasia

Campomelic dwarfism

ORPHA:140

Campomelic dysplasia and related disorders

Bent bone dysplasia

ORPHA:93439

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

ORPHA:3027

Ciliopathies with major skeletal involvement

SRP · Short rib dysplasia

ORPHA:93426

Dentin dysplasia

DD

ORPHA:1653

Desbuquois syndrome

Desbuquois dysplasia · DBQD

ORPHA:1425

Diastrophic dysplasia

Diastrophic dwarfism

ORPHA:628

Dysplasia of head of femur, Meyer type

Meyer dysplasia · DECF

ORPHA:168621

Ectodermal dysplasia syndrome

Ectodermal dysplasia

ORPHA:79373

Ellis Van Creveld syndrome

Chondroectodermal dysplasia · Mesodermic dysplasia

ORPHA:289

Greenberg dysplasia

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

ORPHA:1426

Kniest dysplasia

ORPHA:485

Kyphomelic dysplasia

ORPHA:1801

Mandibuloacral dysplasia

MAD

ORPHA:2457

Metatropic dysplasia

Metatropic dwarfism

ORPHA:2635

Multiple epiphyseal dysplasia

MED · EDM

ORPHA:251

Omodysplasia

ORPHA:2733

Otodental syndrome

Globodontia · Otodental dysplasia

ORPHA:2791

Otomandibular dysplasia

ORPHA:155896

Parastremmatic dysplasia

Parastremmatic dwarfism

ORPHA:2646

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

ORPHA:93333

Piepkorn dysplasia

Short ribs-craniosynostosis-polysyndactyly syndrome

ORPHA:156723

Primary bone dysplasia

Primary osteodysplasia · Primary skeletal dysplasia

ORPHA:364526

Renal dysplasia

Kidney dysplasia

ORPHA:93108

Specific language disorder

Dysphasia

ORPHA:211053

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

SED-BDS · Tattoo dysplasia

ORPHA:163654

Supratip dysplasia

ORPHA:466695

Virus-associated trichodysplasia spinulosa

Cyclosporine-induced folliculodystrophy · Pilomatrix dysplasia

ORPHA:228379