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"

31 matching diseasesClear search ×

OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly

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

ORPHA:217023

Familial thrombomodulin anomalies

ORPHA:3324

OBSOLETE: Anomaly of chromosome 1

ORPHA:261697

OBSOLETE: Anomaly of chromosome 10

ORPHA:261724

OBSOLETE: Anomaly of chromosome 11

ORPHA:261730

OBSOLETE: Anomaly of chromosome 12

ORPHA:261733

OBSOLETE: Anomaly of chromosome 13

ORPHA:261736

OBSOLETE: Anomaly of chromosome 14

ORPHA:261739

OBSOLETE: Anomaly of chromosome 15

ORPHA:261742

OBSOLETE: Anomaly of chromosome 16

ORPHA:261745

OBSOLETE: Anomaly of chromosome 17

ORPHA:261748

OBSOLETE: Anomaly of chromosome 18

ORPHA:261751

OBSOLETE: Anomaly of chromosome 19

ORPHA:261754

OBSOLETE: Anomaly of chromosome 2

ORPHA:261700

OBSOLETE: Anomaly of chromosome 20

ORPHA:261757

OBSOLETE: Anomaly of chromosome 21

ORPHA:261760

OBSOLETE: Anomaly of chromosome 22

ORPHA:261763

OBSOLETE: Anomaly of chromosome 3

ORPHA:261703

OBSOLETE: Anomaly of chromosome 4

ORPHA:261706

OBSOLETE: Anomaly of chromosome 5

ORPHA:261709

OBSOLETE: Anomaly of chromosome 6

ORPHA:261712

OBSOLETE: Anomaly of chromosome 7

ORPHA:261715

OBSOLETE: Anomaly of chromosome 8

ORPHA:261718

OBSOLETE: Anomaly of chromosome 9

ORPHA:261721

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 I factor anomaly

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

ORPHA:93580

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: X chromosome anomaly

ORPHA:263711

OBSOLETE: Y chromosomal anomaly

ORPHA:263798