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"

23 matching diseasesClear search ×

Isolated gastric duplication

Isolated stomach duplication

ORPHA:662376

Isolated anal canal duplication

ACD

ORPHA:684752

Isolated colonic duplication

Isolated duplication of the colon

ORPHA:662392

Isolated congenital femoral bifurcation

Isolated congenital distal femoral duplication

ORPHA:667589

Isolated digestive duplication cyst of the tongue

Enteric duplication cyst of the tongue · Foregut duplication cyst of the tongue

ORPHA:141071

Isolated duodenal duplication

Isolated duplication of the duodenum

ORPHA:662473

Isolated esophageal duplication cyst

ORPHA:100047

Isolated gallbladder duplication

ORPHA:662388

Isolated jejuno-ileal duplication

Isolated duplication of the jejunum and ileum

ORPHA:662480

Isolated pyloric duplication

Isolated duplication cyst of the pyloric canal · Isolated duplication cyst of the pylorus

ORPHA:662405

Isolated rectal duplication

ORPHA:171220

Isolated small intestine duplication

ORPHA:662456

Isolated tubular duplication of the esophagus

ORPHA:100048

Spontaneous intestinal perforation

Focal intestinal perforation · Isolated perforation

ORPHA:645793

Trisomy 12p syndrome

Duplication 12p

ORPHA:1699

Trisomy 18p syndrome

Duplication 18p · Duplication of the short arm of chromosome 18

ORPHA:1715

Trisomy 1q syndrome

Duplication 1q

ORPHA:261344

Trisomy 4p syndrome

Trisomy of the short arm of chromosome 4 · Duplication 4p

ORPHA:1738

Trisomy 5p syndrome

Duplication 5p · Duplication of the short arm of chromosome 5

ORPHA:1742

Trisomy 8p syndrome

Duplication 8p

ORPHA:264450

Trisomy 8q syndrome

Duplication 8q

ORPHA:1752

Trisomy 9p syndrome

Duplication 9p · Duplication of the short arm of chromosome 9

ORPHA:236

Xp22.13p22.2 duplication syndrome

Dup(X)(p22) · Dup(X)(p22.13p22.2)

ORPHA:284180