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"

152 matching diseasesClear search ×

Smith-Magenis syndrome

17p11.2 microdeletion syndrome

ORPHA:819

Temple syndrome due to paternal 14q32.2 microdeletion

Paternal del(14)(q32.2)

ORPHA:254525

X-linked Alport syndrome-diffuse leiomyomatosis

Xq22.3 microdeletion syndrome

ORPHA:1018

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome

ORPHA:261476

Xp22.3 microdeletion syndrome

Del(X)(p23)

ORPHA:1643

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21

ORPHA:1435

Xq25 microduplication syndrome

Dup(X)(q25) · Xq25 microtriplication

ORPHA:521258

ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion

10p15.3 microdeletion syndrome · Del(10)(p15.3)

ORPHA:687424