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"

9 matching diseasesClear search ×

Tetrasomy 5p syndrome

Isochromosome 5p

ORPHA:3309

Isochromosome Y syndrome

ORPHA:96325

Isochromosomy Yp syndrome

ORPHA:98797

Isochromosomy Yq syndrome

ORPHA:98798

Pallister-Killian syndrome

Isochromosome 12p mosaicism · Isochromosome 12p syndrome

ORPHA:884

Ring chromosome 5 syndrome

Ring chromosome 5 · Ring 5

ORPHA:251043

Tetrasomy 18p syndrome

Isochromosome 18p

ORPHA:3307

Tetrasomy 21 syndrome

Isochromosome 21

ORPHA:96055

Tetrasomy 9p syndrome

Isochromosome 9p

ORPHA:3310