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"

94 matching diseasesClear search ×

Mosaic trisomy 8 syndrome

Warkany syndrome · Trisomy 8 mosaicism

ORPHA:96061

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

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

ORPHA:96193

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 15 syndrome

Trisomy 15 mosaicism · Mosaic trisomy chromosome 15

ORPHA:1706

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 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 2 syndrome

Partial monosomy of chromosome 2

ORPHA:261771

Partial deletion of chromosome 3 syndrome

Partial monosomy of chromosome 3

ORPHA:261776

Partial deletion of chromosome 4 syndrome

Partial monosomy of chromosome 4

ORPHA:261781

Partial deletion of chromosome 5 syndrome

Partial monosomy of chromosome 5

ORPHA:261786

Partial deletion of chromosome 6 syndrome

Partial monosomy of chromosome 6

ORPHA:261791

Partial deletion of chromosome 7 syndrome

Partial monosomy of chromosome 7

ORPHA:261796

Partial deletion of chromosome 8 syndrome

Partial monosomy of chromosome 8

ORPHA:261801

Partial deletion of chromosome 9 syndrome

Partial monosomy of chromosome 9

ORPHA:261806

Partial deletion of chromosome X syndrome

Partial monosomy of chromosome X

ORPHA:263726

Partial deletion of the long arm of chromosome 8 syndrome

Partial deletion of chromosome 8q · Partial monosomy of chromosome 8q

ORPHA:262065

Partial deletion of the short arm of chromosome 8 syndrome

Partial deletion of chromosome 8p · Partial monosomy of chromosome 8p

ORPHA:261920

Partial duplication of chromosome 1 syndrome

Partial trisomy of chromosome 1

ORPHA:262191

Partial duplication of chromosome 10 syndrome

Partial trisomy of chromosome 10

ORPHA:262648

Partial duplication of chromosome 11 syndrome

Partial trisomy of chromosome 11

ORPHA:262653

Partial duplication of chromosome 16 syndrome

Partial trisomy of chromosome 16

ORPHA:262672

Partial duplication of chromosome 17 syndrome

Partial trisomy of chromosome 17

ORPHA:262677

Partial duplication of chromosome 19 syndrome

Partial trisomy of chromosome 19

ORPHA:262687

Partial duplication of chromosome 2 syndrome

Partial trisomy of chromosome 2

ORPHA:262196

Partial duplication of chromosome 20 syndrome

Partial trisomy of chromosome 20

ORPHA:262692

Partial duplication of chromosome 3 syndrome

Partial trisomy of chromosome 3

ORPHA:262201

Partial duplication of chromosome 4 syndrome

Partial trisomy of chromosome 4

ORPHA:262206

Partial duplication of chromosome 6 syndrome

Partial trisomy of chromosome 6

ORPHA:262628

Partial duplication of chromosome 7 syndrome

Partial trisomy of chromosome 7

ORPHA:262633

Partial duplication of chromosome 8 syndrome

Partial trisomy of chromosome 8

ORPHA:262638

Partial duplication of chromosome X syndrome

Partial trisomy of chromosome X

ORPHA:263768

Partial duplication of the long arm of chromosome 1 syndrome

Partial duplication of chromosome 1q · Partial trisomy of chromosome 1q

ORPHA:262833

Partial duplication of the long arm of chromosome 10 syndrome

Partial duplication of chromosome 10q · Partial trisomy of chromosome 10q

ORPHA:262914

Partial duplication of the long arm of chromosome 11 syndrome

Partial duplication of chromosome 11q · Partial trisomy of chromosome 11q

ORPHA:262923