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"

11 matching diseasesClear search ×

Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

Syndactyly-nystagmus syndrome due to dup(2)(q31.1) · Syndactyly-nystagmus syndrome due to trisomy 2q31.1

ORPHA:294026

Mosaic trisomy 1 syndrome

Mosaic trisomy chromosome 1 · Trisomy 1 mosaicism

ORPHA:1692

Tremor-nystagmus-duodenal ulcer syndrome

Neuhauser-Daly-Magnelli syndrome

ORPHA:3350

Trisomy 10p syndrome

ORPHA:171929

Trisomy 12p syndrome

Duplication 12p

ORPHA:1699

Trisomy 13 syndrome

Patau syndrome

ORPHA:3378

Trisomy 17p syndrome

Dup(17p)

ORPHA:261290

Trisomy 18 syndrome

Chromosome 18 duplication · Edwards syndrome

ORPHA:3380

Trisomy 18p syndrome

Duplication 18p · Duplication of the short arm of chromosome 18

ORPHA:1715

Trisomy 1q syndrome

Duplication 1q

ORPHA:261344

Trisomy 20p syndrome

Dup(20p) · Duplication of 20p

ORPHA:261318