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"

130 matching diseasesClear search ×

Partial deletion of chromosome 9 syndrome

Partial monosomy of chromosome 9

ORPHA:261806

Partial deletion of the long arm of chromosome 9 syndrome

Partial deletion of chromosome 9q · Partial monosomy of the long arm of chromosome 9

ORPHA:262074

Partial deletion of the short arm of chromosome 9 syndrome

Partial deletion of chromosome 9p · Partial monosomy of chromosome 9p

ORPHA:261929

21q deletion syndrome

21q- syndrome · Partial 21q monosomy

ORPHA:574

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

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

ORPHA:96193

Maternal uniparental disomy of chromosome 9 syndrome

UPD(9)mat

ORPHA:96183

Mosaic trisomy 1 syndrome

Mosaic trisomy chromosome 1 · Trisomy 1 mosaicism

ORPHA:1692

Mosaic trisomy 2 syndrome

Trisomy 2 mosaicism · Mosaic trisomy chromosome 2

ORPHA:1723

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

Partial autosomal deletion syndrome

Partial autosomal monosomy

ORPHA:98142

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 chromosome 2 syndrome

Partial monosomy of chromosome 2

ORPHA:261771

Partial deletion of chromosome 20 syndrome

Partial monosomy of chromosome 20

ORPHA:261846

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 X syndrome

Partial monosomy of chromosome X

ORPHA:263726

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 long arm of chromosome 2 syndrome

Partial deletion of chromosome 2q · Partial monosomy of chromosome 2q

ORPHA:262010

Partial deletion of the long arm of chromosome 20 syndrome

Partial monosomy of the long arm of chromosome 20 · Partial deletion of chromosome 20q

ORPHA:262164

Partial deletion of the long arm of chromosome 21 syndrome

Partial deletion of chromosome 21q · Partial monosomy of chromosome 21q

ORPHA:262173

Partial deletion of the long arm of chromosome 22 syndrome

Partial deletion of chromosome 22q · Partial monosomy of chromosome 22q

ORPHA:262182

Partial deletion of the long arm of chromosome 3 syndrome

Partial deletion of chromosome 3q · Partial monosomy of chromosome 3q

ORPHA:262019