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"

43 matching diseasesClear search ×

Dysplasia of head of femur, Meyer type

Meyer dysplasia · DECF

ORPHA:168621

Acrodysostosis

Acrodysplasia · Arkless-Graham syndrome

ORPHA:950

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

Ectodermal dysplasia syndrome

Ectodermal dysplasia

ORPHA:79373

Ellis Van Creveld syndrome

Chondroectodermal dysplasia · Mesodermic dysplasia

ORPHA:289

Epiphyseal stippling-osteoclastic hyperplasia syndrome

Pacman dysplasia

ORPHA:1952

Frontonasal dysplasia

Median cleft face syndrome

ORPHA:250

Geleophysic dysplasia

Geleophysic dwarfism

ORPHA:2623

Greenberg dysplasia

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

ORPHA:1426

Kniest dysplasia

ORPHA:485

Kyphomelic dysplasia

ORPHA:1801

Langer mesomelic dysplasia

Mesomelic dwarfism, Langer type

ORPHA:2632

Mandibuloacral dysplasia

MAD

ORPHA:2457

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

ORPHA:1248

Mesomelic and rhizo-mesomelic dysplasia

ORPHA:93438

Mesomelic dysplasia, Kantaputra type

Kantaputra mesomelic dysplasia · MDK

ORPHA:1836

Metatropic dysplasia

Metatropic dwarfism

ORPHA:2635

Multiple metaphyseal dysplasia

ORPHA:93430

Omodysplasia

ORPHA:2733

Otodental syndrome

Globodontia · Otodental dysplasia

ORPHA:2791

Pelvis-shoulder dysplasia

Kosenow syndrome · Scapuloiliac dysostosis

ORPHA:2839

Piepkorn dysplasia

Short ribs-craniosynostosis-polysyndactyly syndrome

ORPHA:156723

Renal dysplasia

Kidney dysplasia

ORPHA:93108

Septo-optic dysplasia spectrum

De Morsier syndrome · SOD

ORPHA:3157

Singleton-Merten dysplasia

Singleton-Merten syndrome

ORPHA:85191

Slender bone dysplasia

ORPHA:93440

Smith-McCort dysplasia

ORPHA:178355

Specific language disorder

Dysphasia

ORPHA:211053

SPONASTRIME dysplasia

Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia · Spondyloepimetaphyseal dysplasia, Sponastrime type

ORPHA:93357

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