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"

17 matching diseasesClear search ×

Distal 17p13.1 microdeletion syndrome

Distal del(17)(p13.1)

12p12.1 microdeletion syndrome

Del(12)(p12.1) · Monosomy 12p12.1

16p13.11 microdeletion syndrome

Del(16)(p13.11) · Monosomy 16p13.11

19p13.12 microdeletion syndrome

Del(19)(p13.12) · Monosomy 19p13.12

19p13.13 microdeletion syndrome

Del(19)(p13.13) · Monosomy 19p13.13

20p13 microdeletion syndrome

20p subtelomeric deletion syndrome · Del(20)(p13)

2p13.2 microdeletion syndrome

Del(2)(p13.2)

9p13 microdeletion syndrome

Del(9)(p13) · Monosomy 9p13

Distal 16p11.2 microdeletion syndrome

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

Distal 17p13.3 microdeletion syndrome

Distal del(17)(p13.3 ) · Distal monosomy 17p13.3

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 deletion 12p syndrome

12p13.33 microdeletion syndrome · Del(12)(p13.33)

Distal deletion 19p syndrome

Telomeric deletion 19p · Distal monosomy 19p13.3

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

Jacobsen syndrome

Chromosome 11q deletion syndrome · Del(11)(q23.3)

WAGR syndrome

Del(11)(p13) · Deletion 11p13