Diseases

Name Orphanumber Description XREF(s)
12p12.1 microdeletion syndrome 313884 A rare chromosomal anomaly syndrome,… Orphanet, ICD-10, OMIM
12q14 microdeletion syndrome 94063 12q14 microdeletion syndrome is… Orphanet, ICD-10
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…
15q11.2 microdeletion syndrome 261183 15q11.2 microdeletion syndrome is a… Orphanet, OMIM, ICD-10
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
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
19p13.3 microduplication syndrome 447980 A rare, genetic, syndromic intellectual… Orphanet
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