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"

26 matching diseasesClear search ×

Campomelic dysplasia and related disorders

Bent bone dysplasia

ORPHA:93439

FGFR2-related bent bone dysplasia

Perinatal lethal bent bone dysplasia

ORPHA:313855

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

ORPHA:295000

Bone dysplasia, lethal Holmgren type

Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type

ORPHA:1842

Boomerang dysplasia

ORPHA:1263

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

ORPHA:3027

Dentin dysplasia

DD

ORPHA:1653

Dentin dysplasia type I

DD-I · DTDP1

ORPHA:99789

Dysplasia of head of femur, Meyer type

Meyer dysplasia · DECF

ORPHA:168621

Epiphyseal stippling-osteoclastic hyperplasia syndrome

Pacman dysplasia

ORPHA:1952

Fibrous dysplasia of bone

ORPHA:249

Greenberg dysplasia

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

ORPHA:1426

Hip dysplasia, Beukes type

BFHD · Beukes familial hip dysplasia

ORPHA:2114

Kniest dysplasia

ORPHA:485

OBSOLETE: Bone dysplasia, Azouz type

ORPHA:1844

Osteocraniostenosis

Gracile bone dysplasia · Osteocraniosplenic syndrome

ORPHA:2763

Osteosclerotic bone dysplasia

Raine syndrome

ORPHA:1832

Otodental syndrome

Globodontia · Otodental dysplasia

ORPHA:2791

Piepkorn dysplasia

Short ribs-craniosynostosis-polysyndactyly syndrome

ORPHA:156723

Primary bone dysplasia

Primary osteodysplasia · Primary skeletal dysplasia

ORPHA:364526

Primary bone dysplasia with increased bone density

Primary osteodysplasia with increased bone density · Primary skeletal dysplasia with increased bone density

ORPHA:93444

Primary bone dysplasia with micromelia

Primary osteodysplasia with micromelia · Primary skeletal dysplasia with micromelia

ORPHA:364536

Renal dysplasia

Kidney dysplasia

ORPHA:93108

Slender bone dysplasia

ORPHA:93440

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

SED-BDS · Tattoo dysplasia

ORPHA:163654

Supratip dysplasia

ORPHA:466695