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"

29 matching diseasesClear search ×

Ellis Van Creveld syndrome

Chondroectodermal dysplasia · Mesodermic dysplasia

ORPHA:289

Acromelic dysplasia

ORPHA:93436

Acromesomelic dysplasia

ORPHA:93437

Acromicric dysplasia

ORPHA:969

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

ORPHA:93347

Axial mesodermal dysplasia spectrum

Blastogenesis defect · Russell-Weaver-Bull syndrome

ORPHA:1834

Campomelic dysplasia

Campomelic dwarfism

ORPHA:140

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

ORPHA:3027

Cranioectodermal dysplasia

CED · Sensenbrenner syndrome

ORPHA:1515

Dentin dysplasia

DD

ORPHA:1653

Dermoodontodysplasia

ORPHA:1660

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

Epiphyseal stippling-osteoclastic hyperplasia syndrome

Pacman dysplasia

ORPHA:1952

Greenberg dysplasia

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

ORPHA:1426

Hidrotic ectodermal dysplasia

Clouston syndrome

ORPHA:189

Kniest dysplasia

ORPHA:485

Kyphomelic dysplasia

ORPHA:1801

Langer mesomelic dysplasia

Mesomelic dwarfism, Langer type

ORPHA:2632

Mesomelic and rhizo-mesomelic dysplasia

ORPHA:93438

Mesomelic dwarfism-cleft palate-camptodactyly syndrome

Reardon-Hall-Slaney syndrome · Mesomelic dysplasia, Reardon type

ORPHA:2631

Mesomelic dysplasia, Kantaputra type

Kantaputra mesomelic dysplasia · MDK

ORPHA:1836

Mesomelic dysplasia, Nievergelt type

Nievergelt syndrome · Mesomelic dwarfism, Nievergelt type

ORPHA:2633

Metatropic dysplasia

Metatropic dwarfism

ORPHA:2635

Otodental syndrome

Globodontia · Otodental dysplasia

ORPHA:2791

Pilodental dysplasia-refractive errors syndrome

Euhidrotic ectodermal dysplasia · Kopysc-Barczyk-Krol syndrome

ORPHA:2892

Renal dysplasia

Kidney dysplasia

ORPHA:93108

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

SED-BDS · Tattoo dysplasia

ORPHA:163654