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"

10,911 rare diseases

OSLAM syndrome

Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome

ORPHA:2760

Ossification anomalies-psychomotor developmental delay syndrome

ORPHA:73230

Osteoblastoma

ORPHA:58040

Osteochondritis dissecans

König disease

ORPHA:2764

Osteochondrosis

ORPHA:399319

Osteochondrosis of genetic origin

ORPHA:399391

Osteochondrosis of the metatarsal bone

Freiberg infraction · Avascular necrosis of the metatarsal bone

ORPHA:564003

Osteochondrosis of the tarsal bone

Avascular necrosis of the tarsal bone · Kohler disease

ORPHA:563991

Osteocraniostenosis

Gracile bone dysplasia · Osteocraniosplenic syndrome

ORPHA:2763

Osteofibrous dysplasia

OFD

ORPHA:488265

Osteogenesis imperfecta

Brittle bone disease · Glass bone disease

ORPHA:666

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta

ORPHA:216796

Osteogenesis imperfecta type 2

Lethal osteogenesis imperfecta · OI type 2

ORPHA:216804

Osteogenesis imperfecta type 3

OI type 3 · Progressive deforming osteogenesis imperfecta

ORPHA:216812

Osteogenesis imperfecta type 4

OI type 4

ORPHA:216820

Osteogenesis imperfecta type 5

OI type 5

ORPHA:216828

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

Al Gazali-Nair syndrome

ORPHA:2773

Osteoglosphonic dysplasia

Osteoglophonic dwarfism

ORPHA:2645

Osteomesopyknosis

Osteomesopycnosis · Axial osteosclerosis

ORPHA:2777

Osteonecrosis

Bone necrosis

ORPHA:399158

Osteonecrosis of genetic origin

Bone necrosis of genetic origin

ORPHA:399380

Osteonecrosis of the jaw

ORPHA:399293

Osteopathia striata-cranial sclerosis syndrome

Hyperostosis generalisata with striations · Robinow-Unger syndrome

ORPHA:2780

Osteopathia striata-pigmentary dermopathy-white forelock syndrome

Whyte-Murphy syndrome

ORPHA:2779

Osteopenia-intellectual disability-sparse hair syndrome

Kaler-Garrity-Stern syndrome

ORPHA:2324

Osteopetrosis and related disorders

ORPHA:2781

Osteopetrosis with renal tubular acidosis

Carbonic anhydrase 2 deficiency · Guibaud-Vainsel syndrome

ORPHA:2785

Osteopetrosis-hypogammaglobulinemia syndrome

Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia · Autosomal recessive osteopetrosis type 7

ORPHA:178389

Osteoporosis-oculocutaneous hypopigmentation syndrome

Hernández-Fragoso syndrome · OOCHS

ORPHA:2786

Osteoporosis-pseudoglioma syndrome

OPPG

ORPHA:2788

Osteoradionecrosis of the mandible

MORN

ORPHA:521127

Osteosarcoma

Osteogenic sarcoma

ORPHA:668

Osteosclerosis-developmental delay-craniosynostosis syndrome

ORPHA:178377

Osteosclerosis-ichthyosis-premature ovarian failure syndrome

Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome

ORPHA:75325

Osteosclerotic bone dysplasia

Raine syndrome

ORPHA:1832

Osteosclerotic metaphyseal dysplasia

ORPHA:500548

Other acquired skin disease

ORPHA:90077

Other dermis disorder

ORPHA:79381

Other epidermal disorder

ORPHA:79359

Other genetic dermis disorder

ORPHA:477808

Other genetic epidermal disease

ORPHA:79360

Other immunodeficiency syndromes due to defects in innate immunity

ORPHA:331193

Other metabolic disease

ORPHA:91088

Other metabolic disease with epilepsy

ORPHA:225713

Other metabolic disease with skin involvement

ORPHA:79217

Other rare diabetes mellitus

ORPHA:181381

Other syndrome with a central nervous system malformation as a major feature

ORPHA:269531

Other syndrome with lissencephaly as a major feature

ORPHA:102010