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"

22 matching diseasesClear search ×

OBSOLETE: Hashimoto-Pritzker syndrome

OBSOLETE: Congenital Langerhans cell histiocytosis

ORPHA:99872

Indeterminate cell histiocytosis

Indeterminate dendritic cell tumor · Indeterminate dendritic cell neoplasm

ORPHA:158019

Langerhans cell histiocytosis

Histiocytosis X · Langerhans cell granulomatosis

ORPHA:389

Multisystem Langerhans cell histiocytosis

Multisystem Langerhans cell granulomatosis · Multisystem histiocytosis X

ORPHA:687741

Non-Langerhans cell histiocytosis

ORPHA:157987

OBSOLETE: Adult pulmonary Langerhans cell histiocytosis

OBSOLETE: Pulmonary histiocytosis X

ORPHA:99874

OBSOLETE: Congenital hydromyelia

ORPHA:268874

OBSOLETE: Congenital hydronephrosis

ORPHA:2190

OBSOLETE: Congenital liver hemangioma

OBSOLETE: Congenital hepatic hemangioma

ORPHA:238691

OBSOLETE: Congenital neuronal ceroid lipofuscinosis

OBSOLETE: Congenital NCL

ORPHA:168486

OBSOLETE: Eosinophilic granuloma

OBSOLETE: Chronic and localized Langerhans cell histiocytosis

ORPHA:99871

OBSOLETE: Hand-Schüller-Christian disease

OBSOLETE: Multifocal eosinophilic granuloma · OBSOLETE: Chronic multifocal Langerhans cell histiocytosis

ORPHA:99873

OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood

OBSOLETE: Histiocytosis X in childhood and adulthood · OBSOLETE: Langerhans cell granulomatosis in childhood and adulthood

ORPHA:264955

OBSOLETE: Langerhans cell histiocytosis specific to adulthood

OBSOLETE: Langerhans cell granulomatosis specific to adulthood · OBSOLETE: Histiocytosis X specific to adulthood

ORPHA:264750

OBSOLETE: Langerhans cell histiocytosis specific to childhood

OBSOLETE: Langerhans cell granulomatosis specific to childhood · OBSOLETE: Histiocytosis X specific to childhood

ORPHA:264724

OBSOLETE: Letterer-Siwe disease

OBSOLETE: Acute and disseminated Langerhans cell histiocytosis

ORPHA:99870

OBSOLETE: Sea-blue histiocytosis

ORPHA:158029

OBSOLETE: Systemic non-Langerhans cell histiocytosis

ORPHA:240266

OBSOLETE: Terminal transverse defects of arm

OBSOLETE: Congenital limb amputation

ORPHA:93937

Pulmonary Langerhans cell histiocytosis

Single-system pulmonary Langerhans cell histiocytosis · Single-system pulmonary histiocytosis X

ORPHA:687733

Single-system multifocal Langerhans cell histiocytosis

Single-system multifocal histiocytosis X · Single-system multifocal Langerhans cell granulomatosis

ORPHA:687738

Unifocal Langerhans cell histiocytosis

Unifocal histiocytosis X · Unifocal Langerhans cell granulomatosis

ORPHA:687730