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"

118 matching diseasesClear search ×

Distal deletion 14q syndrome

Distal monosomy 14q · Telomeric deletion 14q

ORPHA:96150

Distal deletion 15q syndrome

Distal monosomy 15q · 15q26 deletion syndrome

ORPHA:1596

Distal deletion 17q syndrome

Distal monosomy 17q · Monosomy 17qter

ORPHA:1597

Distal deletion 19p syndrome

Telomeric deletion 19p · Distal monosomy 19p13.3

ORPHA:96129

Distal deletion 1q syndrome

Distal monosomy 1q · Monosomy 1qter

ORPHA:36367

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

ORPHA:1620

Distal deletion 4q syndrome

Distal monosomy 4q · Monosomy 4qter

ORPHA:96145

Distal deletion 6p syndrome

6p subtelomeric deletion syndrome · 6p25 microdeletion syndrome

ORPHA:96125

Distal deletion 7p syndrome

Distal monosomy 7p · Monosomy 7pter

ORPHA:96126

Distal deletion 9p syndrome

Distal monosomy 9p · Monosomy 9pter

ORPHA:1642

Distal duplication 10q syndrome

Distal trisomy 10q · Telomeric duplication 10q

ORPHA:96102

Distal duplication 11q syndrome

Distal trisomy 11q · Telomeric duplication 11q

ORPHA:96103

Distal duplication 13q syndrome

Distal trisomy 13q · Telomeric duplication 13q

ORPHA:96105

Distal duplication 14q syndrome

Telomeric duplication 14q · Trisomy 14qter

ORPHA:1705

Distal duplication 15q syndrome

Distal trisomy 15q · Telomeric duplication 15q

ORPHA:1707

Distal duplication 16q syndrome

Distal trisomy 16q · Telomeric duplication 16q

ORPHA:96106

Distal duplication 17q syndrome

Distal trisomy 17q · Telomeric duplication 17q

ORPHA:3379

Distal duplication 18q syndrome

Distal trisomy 18q · Telomeric duplication 18q

ORPHA:1716

Distal duplication 19q syndrome

Telomeric duplication 19q · Trisomy 19qter

ORPHA:1717

Distal duplication 1p36 syndrome

Distal trisomy 1p36 · Telomeric duplication 1p36

ORPHA:96069

Distal duplication 20q syndrome

Distal trisomy 20q · Telomeric duplication 20q

ORPHA:96107

Distal duplication 22q syndrome

Distal trisomy 22q · Telomeric duplication 22q

ORPHA:96109

Distal duplication 2p syndrome

Distal trisomy 2p · Telomeric duplication 2p

ORPHA:96070

Distal duplication 2q syndrome

Distal trisomy 2q · Telomeric duplication 2q

ORPHA:96094

Distal duplication 3p syndrome

Distal trisomy 3p · Telomeric duplication 3p

ORPHA:96071

Distal duplication 4q syndrome

Distal trisomy 4q · Telomeric duplication 4q

ORPHA:96096

Distal duplication 5q syndrome

Distal trisomy 5q · Telomeric duplication 5q

ORPHA:96097

Distal duplication 6p syndrome

Distal trisomy 6p · Telomeric duplication 6p

ORPHA:1745

Distal duplication 6q syndrome

Distal trisomy 6q · Telomeric duplication 6q

ORPHA:96098

Distal duplication 7p syndrome

Distal trisomy 7p · Telomeric duplication 7p

ORPHA:96074

Distal duplication 8q syndrome

Distal trisomy 8q · Telomeric duplication 8q

ORPHA:96100

Distal duplication 9q syndrome

Distal trisomy 9q · Telomeric duplication 9q

ORPHA:96101

Distal limb deficiencies-micrognathia syndrome

10q24 microduplication syndrome · Buttiens-Fryns syndrome

ORPHA:1307

Distal Xq28 microduplication syndrome

Int22h1/Int22h2 mediated-Xq28 microduplication syndrome · Distal dup(X)q(28)

ORPHA:293939

Eyebrow duplication-syndactyly syndrome

ORPHA:3172

Fibular dimelia-diplopodia syndrome

Leg duplication-mirror foot syndrome

ORPHA:1757

Inverted duplicated chromosome 15 syndrome

Inv dup (15) syndrome · idic (15) syndrome

ORPHA:3306

Jacobsen syndrome

Chromosome 11q deletion syndrome · Del(11)(q23.3)

ORPHA:2308

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

ORPHA:1600

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

ORPHA:261112

Non-distal deletion 10q syndrome

Non-distal monosomy 10q · Non-telomeric monosomy 10q

ORPHA:1581

Non-distal deletion 12q syndrome

Non-distal monosomy 12q · Non-telomeric monosomy 12q

ORPHA:96160

Non-distal duplication 10q syndrome

Non-distal trisomy 10q · Non-telomeric trisomy 10q

ORPHA:1695

Non-distal duplication 13q syndrome

Non-distal trisomy 13q · Non-telomeric trisomy 13q

ORPHA:1702

Non-distal duplication 9q syndrome

Non-distal trisomy 9q · Non-telomeric trisomy 9q

ORPHA:96112

OBSOLETE: MECP2 duplication syndrome

OBSOLETE: X-linked intellectual disability-hypotonia-recurrent Infections syndrome · OBSOLETE: Lubs-Arena syndrome

ORPHA:85281

Partial autosomal duplication/triplication syndrome

Partial autosomal trisomy/tetrasomy

ORPHA:98132

Partial duplication of chromosome 1 syndrome

Partial trisomy of chromosome 1

ORPHA:262191