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"

31 matching diseasesClear search ×

Mesomelic dysplasia, Kantaputra type

Kantaputra mesomelic dysplasia · MDK

ORPHA:1836

Acromelic dysplasia

ORPHA:93436

Acromesomelic dysplasia

ORPHA:93437

Acromesomelic dysplasia, Grebe type

Chondrodysplasia, Grebe type

ORPHA:2098

Acromesomelic dysplasia, Hunter-Thompson type

Acromesomelic dwarfism

ORPHA:968

Acromesomelic dysplasia, Maroteaux type

ORPHA:40

Brachydactyly type A6

Osebold-Remondini syndrome · Acromesomelic dysplasia, Osebold-Remondini type

ORPHA:93382

Campomelic dysplasia

Campomelic dwarfism

ORPHA:140

Dentin dysplasia type I

DD-I · DTDP1

ORPHA:99789

Dentin dysplasia type II

DD-II · DTDP2

ORPHA:99791

Dysplasia of head of femur, Meyer type

Meyer dysplasia · DECF

ORPHA:168621

Ellis Van Creveld syndrome

Chondroectodermal dysplasia · Mesodermic dysplasia

ORPHA:289

Hip dysplasia, Beukes type

BFHD · Beukes familial hip dysplasia

ORPHA:2114

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 dwarfism, Reinhardt-Pfeiffer type

Reinhardt-Pfeiffer mesomelic dysplasia · Reinhardt-Pfeiffer syndrome

ORPHA:2634

Mesomelic dysplasia, Nievergelt type

Nievergelt syndrome · Mesomelic dwarfism, Nievergelt type

ORPHA:2633

Mesomelic dysplasia, Savarirayan type

Mesomelic dysplasia with absent fibulas and triangular tibias · Triangular tibia-fibular aplasia syndrome

ORPHA:85170

Metatropic dysplasia

Metatropic dwarfism

ORPHA:2635

OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type

ORPHA:953

Platyspondylic dysplasia, Torrance type

PLSD-T · Platyspondylic dysplasia, Torrance-Luton type

ORPHA:85166

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

ORPHA:3005

Rhizomelic dysplasia, Patterson-Lowry type

ORPHA:2831

Spondyloepiphyseal dysplasia with metatarsal shortening

Czech dysplasia, metatarsal type · SED with metatarsal shortening

ORPHA:137678

Thanatophoric dysplasia

TD

ORPHA:2655

Thanatophoric dysplasia type 1

TD1 · Thanatophoric dwarfism type 1

ORPHA:1860

Thanatophoric dysplasia type 2

Cloverleaf skull-micromelic bone dysplasia syndrome · TD2

ORPHA:93274

Thoracomelic dysplasia

Rivera-Perez-Salas syndrome · Thoracolimb dysplasia, Rivera type

ORPHA:1803

Upper limb mesomelic dysplasia, type Fryns

Fryns-Hofkens-Fabry syndrome

ORPHA:2497