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 |