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"

9 matching diseasesClear search ×

7q31 microdeletion syndrome

Del(7)(q31) · Monosomy 7q31

ORPHA:251061

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

ORPHA:251014

2q32q33 deletion syndrome

Monosomy 2q32q33 · Del(2)(q32q33)

ORPHA:251019

2q37 microdeletion syndrome

Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome

ORPHA:1001

9q31.1q31.3 microdeletion syndrome

Del(9)(q31.1q31.3) · Monosomy 9q31.1q31.3

ORPHA:401923

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

ORPHA:1627

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

ORPHA:96168

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