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"

21 matching diseasesClear search ×

Acrodysplasia scoliosis

Prata-Liberal-Goncalves syndrome · Brachydactyly-scoliosis-carpal fusion syndrome

ORPHA:2956

Acrodysostosis

Acrodysplasia · Arkless-Graham syndrome

ORPHA:950

Acrocapitofemoral dysplasia

ORPHA:63446

Acromelic dysplasia

ORPHA:93436

Acromelic frontonasal dysplasia

Acromelic frontonasal dysostosis · AFND

ORPHA:1827

Acromesomelic dysplasia

ORPHA:93437

Acromicric dysplasia

ORPHA:969

Acropectororenal dysplasia

ORPHA:956

Acropectorovertebral dysplasia

F syndrome

ORPHA:957

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

ORPHA:93347

Auriculoosteodysplasia

ORPHA:114

Dentin dysplasia

DD

ORPHA:1653

Dysplasia of head of femur, Meyer type

Meyer dysplasia · DECF

ORPHA:168621

Greenberg dysplasia

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

ORPHA:1426

Hajdu-Cheney syndrome

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

ORPHA:955

Lethal chondrodysplasia

ORPHA:93465

Metaphyseal acroscyphodysplasia

Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome

ORPHA:1240

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

ORPHA:166272

Omodysplasia

ORPHA:2733

Opsismodysplasia

ORPHA:2746

Renal dysplasia

Kidney dysplasia

ORPHA:93108