Diseases
Name | Orphanumber | Description | XREF(s) |
---|---|---|---|
12p12.1 microdeletion syndrome | 313884 | 12p12.1 microdeletion syndrome is a… | Orphanet, ICD-10, OMIM |
12q14 microdeletion syndrome | 94063 | 12q14 microdeletion syndrome is… | Orphanet |
12q15q21.1 microdeletion syndrome | 289513 | 12q15q21.1 microdeletion syndrome is a… | Orphanet |
14q11.2 microduplication syndrome | 261229 | 14q11.2 microduplication syndrome is a… | Orphanet |
15q11.2 microdeletion syndrome | 261183 | 15q11.2 microdeletion syndrome is a… | Orphanet, OMIM, ICD-10 |
15q11.2 microdeletion syndrome | 261183 | 15q11.2 microdeletion syndrome is a… | |
15q11q13 microduplication syndrome | 238446 | The 15q11-q13 microduplication (… | Orphanet, ICD-10, OMIM |
15q13.3 microdeletion syndrome | 199318 | 15q13.3 microdeletion (microdel15q13.3… | Orphanet, ICD-10, OMIM |
15q14 microdeletion syndrome | 261190 | 15q14 microdeletion syndrome is a… | Orphanet, OMIM, ICD-10 |
15q24 microdeletion syndrome | 94065 | 15q24 microdeletion syndrome is a rare… | Orphanet, OMIM, ICD-10 |
16p13.2 microdeletion syndrome | 500055 | A partial deletion of the short arm of… | Orphanet |
16q24.3 microdeletion syndrome | 261250 | 16q24.3 microdeletion syndrome is a… | Orphanet, ICD-10 |
17p11.2 microduplication syndrome | 1713 | 17p11.2 microduplication syndrome is a… | Orphanet, OMIM, MeSH, ICD-10 |
17p13.3 microduplication syndrome | 217385 | 17p13.3 microduplication syndrome is… | Orphanet, OMIM, ICD-10 |
17q11 microdeletion syndrome | 97685 | 17q11 microdeletion syndrome is a rare… | Orphanet, ICD-10, OMIM |
17q11.2 microduplication syndrome | 139474 | 17q11.2 microduplication syndrome is… | Orphanet, ICD-10, OMIM |
17q12 microdeletion syndrome | 261265 | 17q12 microdeletion syndrome is a rare… | Orphanet, OMIM, ICD-10 |
17q21.31 microdeletion syndrome | 363958 | Orphanet, OMIM, ICD-10 | |
17q23.1q23.2 microdeletion syndrome | 261279 | 17q23.1q23.2 microdeletion syndrome is… | Orphanet, ICD-10, OMIM |
17q24.2 microdeletion syndrome | 529962 | A rare, genetic, multiple congenital… | Orphanet |