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"

118 matching diseasesClear search ×

Mosaic trisomy 15 syndrome

Trisomy 15 mosaicism · Mosaic trisomy chromosome 15

ORPHA:1706

Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11

Mosaic paternal uniparental disomy of chromosome 11 · UPD(11)pat

ORPHA:96193

Inverted duplicated chromosome 15 syndrome

Inv dup (15) syndrome · idic (15) syndrome

ORPHA:3306

Mosaic monosomy X syndrome

ORPHA:99228

Mosaic trisomy 1 syndrome

Mosaic trisomy chromosome 1 · Trisomy 1 mosaicism

ORPHA:1692

Mosaic trisomy 10 syndrome

Trisomy 10 mosaicism · Mosaic trisomy chromosome 10

ORPHA:96063

Mosaic trisomy 12 syndrome

Mosaic trisomy chromosome 12 · Trisomy 12 mosaicism

ORPHA:1698

Mosaic trisomy 14 syndrome

Mosaic trisomy chromosome 14 · Trisomy 14 mosaicism

ORPHA:1703

Mosaic trisomy 16 syndrome

Mosaic trisomy chromosome 16 · Trisomy 16 mosaicism

ORPHA:1708

Mosaic trisomy 17 syndrome

Trisomy 17 mosaicism · Mosaic trisomy chromosome 17

ORPHA:1711

Mosaic trisomy 2 syndrome

Trisomy 2 mosaicism · Mosaic trisomy chromosome 2

ORPHA:1723

Mosaic trisomy 20 syndrome

Trisomy 20 mosaicism · Mosaic trisomy chromosome 20

ORPHA:1724

Mosaic trisomy 22 syndrome

Mosaic trisomy chromosome 22 · Trisomy 22 mosaicism

ORPHA:96068

Mosaic trisomy 3 syndrome

Trisomy 3 mosaicism · Mosaic trisomy chromosome 3

ORPHA:100071

Mosaic trisomy 4 syndrome

Mosaic trisomy chromosome 4 · Trisomy 4 mosaicism

ORPHA:96059

Mosaic trisomy 5 syndrome

Trisomy 5 mosaicism · Mosaic trisomy chromosome 5

ORPHA:96060

Mosaic trisomy 7 syndrome

Mosaic trisomy chromosome 7 · Trisomy 7 mosaicism

ORPHA:1747

Mosaic trisomy 8 syndrome

Warkany syndrome · Trisomy 8 mosaicism

ORPHA:96061

Mosaic trisomy 9 syndrome

Mosaic trisomy chromosome 9 · Trisomy 9 mosaicism

ORPHA:99776

Pallister-Killian syndrome

Isochromosome 12p mosaicism · Isochromosome 12p syndrome

ORPHA:884

Partial deletion of chromosome 1 syndrome

Partial monosomy of chromosome 1

ORPHA:261766

Partial deletion of chromosome 10 syndrome

Partial monosomy of chromosome 10

ORPHA:261811

Partial deletion of chromosome 11 syndrome

Partial monosomy of chromosome 11

ORPHA:261816

Partial deletion of chromosome 12 syndrome

Partial monosomy of chromosome 12

ORPHA:282124

Partial deletion of chromosome 16 syndrome

Partial monosomy of chromosome 16

ORPHA:261826

Partial deletion of chromosome 17 syndrome

Partial monosomy of chromosome 17

ORPHA:261831

Partial deletion of chromosome 18 syndrome

Partial monosomy of chromosome 18

ORPHA:261836

Partial deletion of chromosome 19 syndrome

Partial monosomy of chromosome 19

ORPHA:261841

Partial deletion of the long arm of chromosome 1 syndrome

Partial deletion of chromosome 1q · Partial monosomy of chromosome 1q

ORPHA:262001

Partial deletion of the long arm of chromosome 10 syndrome

Partial deletion of chromosome 10q · Partial monosomy of the long arm of chromosome 10

ORPHA:262083

Partial deletion of the long arm of chromosome 11 syndrome

Partial deletion of chromosome 11q · Partial monosomy of chromosome 11q

ORPHA:262092

Partial deletion of the long arm of chromosome 12 syndrome

Partial deletion of chromosome 12q · Partial monosomy of chromosome 12q

ORPHA:261821

Partial deletion of the long arm of chromosome 13 syndrome

Partial deletion of chromosome 13q · Partial monosomy of chromosome 13q

ORPHA:262101

Partial deletion of the long arm of chromosome 14 syndrome

Partial deletion of chromosome 14q · Partial monosomy of chromosome 14q

ORPHA:262110

Partial deletion of the long arm of chromosome 15 syndrome

Partial deletion of chromosome 15q · Partial monosomy of chromosome 15q

ORPHA:262119

Partial deletion of the long arm of chromosome 16 syndrome

Partial deletion of chromosome 16q · Partial monosomy of chromosome 16q

ORPHA:262128

Partial deletion of the long arm of chromosome 17 syndrome

Partial deletion of chromosome 17q · Partial monosomy of chromosome 17q

ORPHA:262137

Partial deletion of the long arm of chromosome 18 syndrome

Partial deletion of chromosome 18q · Partial monosomy of chromosome 18q

ORPHA:262146

Partial deletion of the long arm of chromosome 19 syndrome

Partial deletion of chromosome 19q · Partial monosomy of chromosome 19q

ORPHA:262155

Partial deletion of the short arm of chromosome 1 syndrome

Partial deletion of chromosome 1p · Partial monosomy of chromosome 1p

ORPHA:261857

Partial deletion of the short arm of chromosome 10 syndrome

Partial deletion of chromosome 10p · Partial monosomy of chromosome 10p

ORPHA:261938

Partial deletion of the short arm of chromosome 11 syndrome

Partial deletion of chromosome 11p · Partial monosomy of chromosome 11p

ORPHA:261947

Partial deletion of the short arm of chromosome 12 syndrome

Partial deletion of chromosome 12p · Partial monosomy of chromosome 12p

ORPHA:316244

Partial deletion of the short arm of chromosome 16 syndrome

Partial deletion of chromosome 16p · Partial monosomy of chromosome 16p

ORPHA:261956

Partial deletion of the short arm of chromosome 17 syndrome

Partial deletion of chromosome 17p · Partial monosomy of the short arm of chromosome 17

ORPHA:261965

Partial deletion of the short arm of chromosome 18 syndrome

Partial deletion of chromosome 18p · Partial monosomy of chromosome 18p

ORPHA:261974

Partial deletion of the short arm of chromosome 19 syndrome

Partial deletion of chromosome 19p · Partial monosomy of chromosome 19p

ORPHA:261983

Partial duplication of chromosome 1 syndrome

Partial trisomy of chromosome 1

ORPHA:262191