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"

15 matching diseasesClear search ×

Sclerosteosis

Cortical hyperostosis-syndactyly syndrome

ORPHA:3152

Amaurosis-hypertrichosis syndrome

ORPHA:1021

Caffey disease

Infantile cortical hyperostosis

ORPHA:1310

Corticobasal syndrome

ORPHA:454887

Curry-Jones syndrome

Corpus callosum agenesis-polysyndactyly syndrome

ORPHA:1553

Dysplastic cortical hyperostosis

ORPHA:646139

Dysplastic cortical hyperostosis, Al-Gazali type

ORPHA:646136

Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

ORPHA:247827

Huriez syndrome

Palmoplantar keratoderma-sclerodactyly syndrome · Palmoplantar hyperkeratosis-sclerodactyly syndrome

ORPHA:384

Hyperostosis corticalis generalisata

Van Buchem disease · Hyperphosphatasemia tarda

ORPHA:3416

Hypoglossia-hypodactyly syndrome

Aglossia-adactylia syndrome · Hanhart syndrome

ORPHA:989

Juvenile Paget disease

Familial osteoectasia · Hereditary hyperphosphatasia

ORPHA:2801

Piepkorn dysplasia

Short ribs-craniosynostosis-polysyndactyly syndrome

ORPHA:156723

Restrictive dermopathy

Lethal restrictive dermopathy · Lethal hyperkeratosis-contracture syndrome

ORPHA:1662

SAPHO syndrome

Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

ORPHA:793