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"

27 matching diseasesClear search ×

OBSOLETE: Distal monosomy 20q

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

ORPHA:96152

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

ORPHA:1606

20p12.3 microdeletion syndrome

Del(20)(p12.3) · Monosomy 20p12.3

ORPHA:261295

20p13 microdeletion syndrome

20p subtelomeric deletion syndrome · Del(20)(p13)

ORPHA:313781

20q11.2 microdeletion syndrome

Del(20)(q11.2) · Monosomy 20q11

ORPHA:444051

20q13.33 microdeletion syndrome

Del(20)(q13.33) · Monosomy 20q13.33

ORPHA:261311

2q37 microdeletion syndrome

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

ORPHA:1001

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

ORPHA:65286

Distal deletion 10p syndrome

Distal monosomy 10p · Monosomy 10pter

ORPHA:1580

Distal deletion 10q syndrome

Distal monosomy 10q · Monosomy 10qter

ORPHA:96148

Distal deletion 12q syndrome

Distal monosomy 12q · Monosomy 12qter

ORPHA:96149

Distal deletion 17q syndrome

Distal monosomy 17q · Monosomy 17qter

ORPHA:1597

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 monosomy 7q36 syndrome

Distal deletion 7q36 · Monosomy 7qter

ORPHA:1636

Jacobsen syndrome

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

ORPHA:2308

OBSOLETE: Deletion 20p

OBSOLETE: Monosomy 20p

ORPHA:1611

OBSOLETE: Deletion 4q

OBSOLETE: Monosomy 4q

ORPHA:1625

OBSOLETE: Duplication 4q

OBSOLETE: Trisomy 4q

ORPHA:1739

OBSOLETE: Multicentric Castleman disease

OBSOLETE: MCD · OBSOLETE: Multicentric giant lymph node hyperplasia

ORPHA:93686

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

OBSOLETE: Uniparental disomy of chromosome 20

OBSOLETE: UPD(20)

ORPHA:263059