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"

12 matching diseasesClear search ×

OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly

OBSOLETE: Hemolytic uremic syndrome without diarrhea with I factor anomaly · OBSOLETE: aHUS with I factor anomaly

ORPHA:93580

Immunodeficiency with factor H anomaly

ORPHA:200421

Immunodeficiency with factor I anomaly

Complete factor I deficiency

ORPHA:200418

OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly

OBSOLETE: aHUS with B factor anomaly · OBSOLETE: D- HUS with B factor anomaly

ORPHA:93578

OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly

OBSOLETE: Hemolytic uremic syndrome without diarrhea with C3 anomaly · OBSOLETE: aHUS with C3 anomaly

ORPHA:93575

OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly

OBSOLETE: aHUS with H factor anomaly · OBSOLETE: D- HUS with H factor anomaly

ORPHA:93579

OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly

OBSOLETE: D- HUS with MCP/CD46 anomaly · OBSOLETE: Atypical HUS with MCP/CD46 anomaly

ORPHA:93576

OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly

OBSOLETE: aHUS with thrombomodulin anomaly · OBSOLETE: D- HUS with thrombomodulin anomaly

ORPHA:217023

OBSOLETE: Canthal anomaly

ORPHA:98572

OBSOLETE: Nervous system anomaly with eye involvement

ORPHA:98692

OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly

ORPHA:98693

OBSOLETE: Von Hippel anomaly

ORPHA:98941