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"

161 matching diseasesClear search ×

Partial duplication of the short arm of chromosome 7 syndrome

Partial duplication of chromosome 7p · Partial trisomy of chromosome 7p

ORPHA:262749

Partial duplication of the short arm of chromosome 8 syndrome

Partial duplication of chromosome 8p · Partial trisomy of chromosome 8p

ORPHA:262758

Partial duplication of the short arm of chromosome X syndrome

Partial duplication of chromosome Xp · Partial trisomy of chromosome Xp

ORPHA:263775

Partial duplication/triplication of the short arm of chromosome 9 syndrome

Partial duplication of chromosome 9p · Partial duplication of the short arm of chromosome 9

ORPHA:262767

Paternal uniparental disomy of chromosome 1 syndrome

UPD(1)pat

ORPHA:251004

Paternal uniparental disomy of chromosome 13 syndrome

UPD(13)pat

ORPHA:99324

Paternal uniparental disomy of chromosome 20 syndrome

UPD(20)pat · Paternal UPD(20)

ORPHA:96194

Paternal uniparental disomy of chromosome 21 syndrome

UPD(21)pat

ORPHA:96195

Paternal uniparental disomy of chromosome 5 syndrome

UPD(5)pat

ORPHA:96190

Paternal uniparental disomy of chromosome 6 syndrome

UPD(6)pat

ORPHA:96191

Paternal uniparental disomy of chromosome 7 syndrome

UPD(7)pat

ORPHA:96192

Paternal uniparental disomy of chromosome X syndrome

UPD(X)pat

ORPHA:261524

Paternal uniparental disomy syndrome

ORPHA:98154

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11

UPD(11)mat

ORPHA:231147

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

UPD(7)mat

ORPHA:96182

Temple syndrome due to maternal uniparental disomy of chromosome 14

UPD(14)mat

ORPHA:96184

Uniparental disomy of chromosome X syndrome

UPD(X)

ORPHA:263793