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 ×

Distal 22q11.2 microduplication syndrome

Distal dup(22)(q11.2) · Distal trisomy 22q11.2

14q11.2 microduplication syndrome

Dup(14)(q11.2) · Trisomy 14q11.2

17q11.2 microduplication syndrome

Dup(17)(q11.2) · Grisart-Destrée syndrome

20q11.2 microduplication syndrome

Dup(20)(q11.2)

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

7q11.23 microduplication syndrome

Dup(7)(q11.23) · Trisomy 7q11.23

Distal 16p11.2 microdeletion syndrome

Distal del(16)(p11.2) · Distal monosomy 16p11.2

Distal 22q11.2 microdeletion syndrome

Distal del(22)(q11.2) · Distal monosomy 22q11.2

Distal 7q11.23 microdeletion syndrome

Distal del(7)(q11.23) · Distal monosomy 7q11.23

Distal 7q11.23 microduplication syndrome

Distal dup(7)(q11.23) · Distal trisomy 7q11.23

Distal Xq28 microduplication syndrome

Int22h1/Int22h2 mediated-Xq28 microduplication syndrome · Distal dup(X)q(28)