MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
DiagnosticsOrphan drugsClinical trialsStatistics
AllBio anom.Cat.Clin. grp.Clin. sub.Clinical syndromeDiseaseEtio. sub.Hist. sub.Malform.Morph.Situation
1,772 diseases matched (Malform.) Reset

Distal deletion 17q syndrome

ORPHA:1597Malform.
Not applicable, Unknown

Distal deletion 19p syndrome

ORPHA:96129Malform.

Distal deletion 1q syndrome

ORPHA:36367Malform.

Distal deletion 3p syndrome

ORPHA:1620Malform.

Distal deletion 4q syndrome

ORPHA:96145Malform.

Distal deletion 6p syndrome

ORPHA:96125Malform.
Not applicable, Unknown

Distal deletion 7p syndrome

ORPHA:96126Malform.

Distal deletion 9p syndrome

ORPHA:1642Malform.

Distal duplication 10q syndrome

ORPHA:96102Malform.

Distal duplication 11q syndrome

ORPHA:96103Malform.

Distal duplication 13q syndrome

ORPHA:96105Malform.

Distal duplication 14q syndrome

ORPHA:1705Malform.

Distal duplication 16q syndrome

ORPHA:96106Malform.

Distal duplication 17q syndrome

ORPHA:3379Malform.

Distal duplication 18q syndrome

ORPHA:1716Malform.

Distal duplication 19q syndrome

ORPHA:1717Malform.

Distal duplication 1p36 syndrome

ORPHA:96069Malform.

Distal duplication 20q syndrome

ORPHA:96107Malform.

Distal duplication 22q syndrome

ORPHA:96109Malform.

Distal duplication 2p syndrome

ORPHA:96070Malform.

Distal duplication 2q syndrome

ORPHA:96094Malform.

Distal duplication 3p syndrome

ORPHA:96071Malform.

Distal duplication 4q syndrome

ORPHA:96096Malform.

Distal duplication 5q syndrome

ORPHA:96097Malform.
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