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"

18 matching diseasesClear search ×

Primary bone dysplasia

Primary osteodysplasia · Primary skeletal dysplasia

ORPHA:364526

Primary bone dysplasia with decreased bone density

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

ORPHA:93446

Primary bone dysplasia with defective bone mineralization

Primary osteodysplasia with defective bone mineralization · Primary skeletal dysplasia with defective bone mineralization

ORPHA:93447

Primary bone dysplasia with disorganized development of skeletal components

Primary osteodysplasia with disorganized development of skeletal components · Primary skeletal dysplasia with disorganized development of skeletal components

ORPHA:93450

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

Primary bone dysplasia with multiple joint dislocations

Primary osteodysplasia with multiple joint dislocations · Primary skeletal dysplasia with multiple joint dislocations

ORPHA:93441

Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments

Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments · Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments

ORPHA:364531

Adrenal hypoplasia congenita

Congenital adrenal hypoplasia · AHC

ORPHA:595337

Auriculoosteodysplasia

ORPHA:114

Hajdu-Cheney syndrome

Acroosteolysis dominant type · Acroosteolysis with osteoporosis and changes in skull and mandible

ORPHA:955

Idiopathic achalasia

Achalasia cardia · Idiopathic achalasia of esophagus

ORPHA:930

Nail-patella syndrome

Onychoosteodysplasia · Turner-Kieser syndrome

ORPHA:2614

Omodysplasia

ORPHA:2733

Osteofibrous dysplasia

OFD

ORPHA:488265

Osteoglosphonic dysplasia

Osteoglophonic dwarfism

ORPHA:2645

Primary osteolysis

ORPHA:93449

Primary pulmonary hypoplasia

ORPHA:2257