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"

91 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 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 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 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 monosomy 7q36 syndrome

Distal deletion 7q36 · Monosomy 7qter

ORPHA:1636

FOXG1 syndrome due to 14q12 microdeletion

Del(14)(q12) · Monosomy 14q12

ORPHA:261144

Jacobsen syndrome

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

ORPHA:2308

Mesomelia-synostoses syndrome

8q13 microdeletion syndrome · Del(8)q(13)

ORPHA:2496

Miller-Dieker syndrome

Lissencephaly due to 17p13.3 deletion · Monosomy 17p13.3

ORPHA:531

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

OBSOLETE: Distal monosomy 20q

OBSOLETE: Monosomy 20qter · OBSOLETE: Distal deletion 20q

ORPHA:96152

OBSOLETE: Non-distal monosomy 20q

OBSOLETE: Non-distal deletion 20q · OBSOLETE: Non-telomeric monosomy 20q

ORPHA:96164

OBSOLETE: Non-distal monosomy 7p

OBSOLETE: Non-distal deletion 7p · OBSOLETE: Non-telomeric monosomy 7p

ORPHA:96136

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

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21

ORPHA:1435