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Diseases
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Name
Orphanumber
Description
XREF(s)
1p21.3 microdeletion syndrome
293948
1p21.3 microdeletion syndrome is an…
Orphanet
,
ICD-10
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
,
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
A rare disorder of lysine and…
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
A rare autosomal monosomy characterized…
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
3-methylcrotonyl-CoA carboxylase deficiency
6
A rare inherited disorder of leucine…
Orphanet
,
OMIM
,
OMIM
,
MeSH
,
ICD-10
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