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 |