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"

14 matching diseasesClear search ×

Xq12-q13.3 duplication syndrome

Dup(X)(q12-q13.3) · Kaya-Prontera syndrome

13q12.3 microdeletion syndrome

Del(13)(q12.3) · Monosomy 13q12.3

15q11q13 microduplication syndrome

15q11q13 duplication syndrome · Dup(15)(q11q13)

15q13.3 microdeletion syndrome

Del(15)(q13.3) · Monosomy 15q13.3

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

17p13.3 microduplication syndrome

17p13.3 duplication syndrome · Dup(17)(p13.3)

17q12 microduplication syndrome

Dup(17)(q12) · Trisomy 17q12

19p13.3 microduplication syndrome

Dup(19)(p13.3)

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

7q36.3 microduplication syndrome · Dup(7)(q36.3)

Xq25 microduplication syndrome

Dup(X)(q25) · Xq25 microtriplication

Xq27.3q28 duplication syndrome

Dup(X)(q27.3q28) · Trisomy Xq27.3-q28