Diseases

Name Orphanumber Description XREF(s)
17p11.2 microduplication syndrome 1713 17p11.2 microduplication syndrome is a… Orphanet, OMIM, MeSH, ICD-10
16q24.3 microdeletion syndrome 261250 16q24.3 microdeletion syndrome is a… Orphanet, ICD-10
15q24 microdeletion syndrome 94065 15q24 microdeletion syndrome is a rare… Orphanet, OMIM, ICD-10
15q14 microdeletion syndrome 261190 15q14 microdeletion syndrome is a… Orphanet, OMIM, ICD-10
15q13.3 microdeletion syndrome 199318 15q13.3 microdeletion (microdel15q13.3… Orphanet, ICD-10, OMIM
15q11q13 microduplication syndrome 238446 The 15q11-q13 microduplication (… Orphanet, ICD-10, OMIM
15q11.2 microdeletion syndrome 261183 15q11.2 microdeletion syndrome is a…
15q11.2 microdeletion syndrome 261183 15q11.2 microdeletion syndrome is a… Orphanet, OMIM, ICD-10
14q11.2 microduplication syndrome 261229 14q11.2 microduplication syndrome is a… Orphanet
12q15q21.1 microdeletion syndrome 289513 12q15q21.1 microdeletion syndrome is a… Orphanet
12q14 microdeletion syndrome 94063 12q14 microdeletion syndrome is… Orphanet, ICD-10
12p12.1 microdeletion syndrome 313884 A rare chromosomal anomaly syndrome,… Orphanet, ICD-10, OMIM