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"

102 matching diseasesClear search ×

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

ORPHA:251028

Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

5q31.3 microdeletion syndrome · Del(5)(q31.3)

ORPHA:314655

WAGR syndrome

Del(11)(p13) · Deletion 11p13

ORPHA:893

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23

ORPHA:904

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21

ORPHA:1435