Diseases

Name Orphanumber Description XREF(s)
19p13.3 microduplication syndrome 447980 A rare, genetic, syndromic intellectual… Orphanet
1p21.3 microdeletion syndrome 293948 1p21.3 microdeletion syndrome is an… Orphanet
1p31p32 microdeletion syndrome 401986 1p31p32 microdeletion syndrome is a… Orphanet, ICD-10, OMIM
1p36 deletion syndrome 1606 A rare chromosomal anomaly… Orphanet, ICD-10, OMIM, OMIM
1q44 microdeletion syndrome 238769 1q44 microdeletion syndrome is a newly… Orphanet, ICD-10
20p12.3 microdeletion syndrome 261295 20p12.3 microdeletion syndrome is a… Orphanet, ICD-10
21q22.11q22.12 microdeletion syndrome 261323 A rare, genetic, chromosomal anomaly… Orphanet
22q11.2 deletion syndrome 567 A rare chromosomal anomaly which causes… Orphanet, OMIM, OMIM, MedDRA, MedDRA, ICD-10, MeSH
22q11.2 duplication syndrome 1727 A rare chromosomal anomaly… Orphanet, OMIM, ICD-10
2-aminoadipic 2-oxoadipic aciduria 79154 2-aminoadipic 2-oxoadipic aciduria is a… Orphanet, OMIM, ICD-10
2-methylbutyryl-CoA dehydrogenase deficiency 79157 A rare organic aciduria characterized… Orphanet, ICD-10, OMIM
2p21 microdeletion syndrome 163693 The 2p21 microdeletion syndrome… Orphanet, OMIM, ICD-10
2p21 microdeletion syndrome without cystinuria 369881 2p21 microdeletion syndrome without… Orphanet
2q23.1 microdeletion syndrome 228402 The newly described 2q23.1… Orphanet, OMIM, ICD-10
2q24 microdeletion syndrome 1617 2q24 microdeletion syndrome is a… Orphanet, MeSH, ICD-10
2q32q33 microdeletion syndrome 251019 2q32q33 microdeletion syndrome is a… Orphanet, OMIM, ICD-10
2q37 microdeletion syndrome 1001 A rare chromosomal anomaly involving… Orphanet, MeSH, OMIM, ICD-10
3-hydroxy-3-methylglutaric aciduria 20 A rare organic aciduria, due to… Orphanet, OMIM, ICD-10
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 35701 3-hydroxy-3-methylglutaryl-CoA synthase… Orphanet, ICD-10, OMIM
3MC syndrome 293843 A rare multiple congenital anomalies… Orphanet, OMIM, OMIM, OMIM, ICD-10
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