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"

37 matching diseasesClear search ×

Non-distal deletion 12q syndrome

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

ORPHA:96160

12p12.1 microdeletion syndrome

Del(12)(p12.1) · Monosomy 12p12.1

ORPHA:313884

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

ORPHA:94063

12q15q21 microdeletion syndrome

Del(12)(q15)(q21) · Deletion 12q15q21

ORPHA:289513

19p13.12 microdeletion syndrome

Del(19)(p13.12) · Monosomy 19p13.12

ORPHA:254346

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

ORPHA:1606

1q44 microdeletion syndrome

Del(1)(q44) · Monosomy 1q44

ORPHA:238769

Distal 16p11.2 microdeletion syndrome

Distal del(16)(p11.2) · Distal monosomy 16p11.2

ORPHA:261222

Distal 17p13.3 microdeletion syndrome

Distal del(17)(p13.3 ) · Distal monosomy 17p13.3

ORPHA:261257

Distal 22q11.2 microdeletion syndrome

Distal del(22)(q11.2) · Distal monosomy 22q11.2

ORPHA:261330

Distal 7q11.23 microdeletion syndrome

Distal del(7)(q11.23) · Distal monosomy 7q11.23

ORPHA:254351

Distal deletion 10p syndrome

Distal monosomy 10p · Monosomy 10pter

ORPHA:1580

Distal deletion 10q syndrome

Distal monosomy 10q · Monosomy 10qter

ORPHA:96148

Distal deletion 12p syndrome

12p13.33 microdeletion syndrome · Del(12)(p13.33)

ORPHA:280325

Distal deletion 12q syndrome

Distal monosomy 12q · Monosomy 12qter

ORPHA:96149

Distal deletion 13q syndrome

Distal monosomy 13q · 13q32 deletion

ORPHA:1590

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 7p syndrome

Distal monosomy 7p · Monosomy 7pter

ORPHA:96126

Distal deletion 9p syndrome

Distal monosomy 9p · Monosomy 9pter

ORPHA:1642

Distal duplication 2q syndrome

Distal trisomy 2q · Telomeric duplication 2q

ORPHA:96094

Distal monosomy 7q36 syndrome

Distal deletion 7q36 · Monosomy 7qter

ORPHA:1636

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

Non-distal deletion 10q syndrome

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

ORPHA:1581

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: 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

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280