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1p36 deletion syndrome see 1p36 deletion syndrome
1q21.1 contiguous gene deletion see 1q21.1 microdeletion
1q21.1 deletion see 1q21.1 microdeletion
1q21.1 microdeletion see 1q21.1 microdeletion
2,8-dihydroxyadenine urolithiasis see adenine phosphoribosyltransferase deficiency
2,8-dihydroxyadeninuria see adenine phosphoribosyltransferase deficiency
2-alpha-methyl-3-hydroxybutyricacidemia see beta-ketothiolase deficiency
2-HGA see 2-hydroxyglutaric aciduria
2-hydroxyglutaric aciduria see 2-hydroxyglutaric aciduria
2-MBADD see 2-methylbutyryl-CoA dehydrogenase deficiency
2-MBCD deficiency see 2-methylbutyryl-CoA dehydrogenase deficiency
2-MBG see 2-methylbutyryl-CoA dehydrogenase deficiency
2-methyl-3-hydroxybutyric aciduria see 17β-hydroxysteroid dehydrogenase type 10 deficiency
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
2-methylbutyryl-CoA dehydrogenase deficiency see 2-methylbutyryl-CoA dehydrogenase deficiency
2-methylbutyryl-coenzyme A dehydrogenase deficiency see 2-methylbutyryl-CoA dehydrogenase deficiency
2-methylbutyryl glycinuria see 2-methylbutyryl-CoA dehydrogenase deficiency
2M3HBA see 17β-hydroxysteroid dehydrogenase type 10 deficiency
2q37 deletion syndrome see 2q37 deletion syndrome
3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
3-alpha-ketothiolase deficiency see beta-ketothiolase deficiency
3-alpha-ktd deficiency see beta-ketothiolase deficiency
3-alpha-oxothiolase deficiency see beta-ketothiolase deficiency
3 beta-HSD deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
3-beta-hydroxysteroid dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
3 beta-ol dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency see long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
3-hydroxyacyl-coenzyme A dehydrogenase deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
3-Ketothiolase deficiency see beta-ketothiolase deficiency
3-M syndrome see 3-M syndrome
3-MCC see 3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonyl-CoA carboxylase deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonyl-coenzyme A carboxylase deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonylglycinuria see 3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria see 3-methylglutaconic aciduria
3-Methylhydroxybutyric acidemia see beta-ketothiolase deficiency
3-MSBN see 3-M syndrome
3-OH 3-CH3 glutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-OH 3-methyl glutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-oxoacid CoA transferase deficiency see succinyl-CoA:3-ketoacid CoA transferase deficiency
3b-hydroxysteroid dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
3H2MBD deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
3HMG see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3MCC see 3-methylcrotonyl-CoA carboxylase deficiency
3MGA see 3-methylglutaconic aciduria
4-hydroxybutyric aciduria see succinic semialdehyde dehydrogenase deficiency
4-hydroxybutyricaciduria see succinic semialdehyde dehydrogenase deficiency
4p deletion syndrome see Wolf-Hirschhorn syndrome
4p- syndrome see Wolf-Hirschhorn syndrome
5-alpha reductase deficiency see 5-alpha reductase deficiency
5-oxoprolinemia see glutathione synthetase deficiency
5-oxoprolinuria see glutathione synthetase deficiency
5p deletion syndrome see cri-du-chat syndrome
5p- syndrome see cri-du-chat syndrome
6q24-related transient neonatal diabetes mellitus see 6q24-related transient neonatal diabetes mellitus
6q24-TNDM see 6q24-related transient neonatal diabetes mellitus
7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome
9q subtelomeric deletion syndrome see Kleefstra syndrome
9q- syndrome see Kleefstra syndrome
9q22.3 deletion see 9q22.3 microdeletion
9q22.3 microdeletion see 9q22.3 microdeletion
9q22 deletion syndrome see 9q22.3 microdeletion
9q34.3 deletion syndrome see Kleefstra syndrome
9q34.3 microdeletion syndrome see Kleefstra syndrome
11 beta hydroxylase deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
11b hydroxylase deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
11p deletion syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
11p partial monosomy syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
11q deletion disorder see Jacobsen syndrome
11q- deletion syndrome see Jacobsen syndrome
11q terminal deletion disorder see Jacobsen syndrome
11q23 deletion disorder see Jacobsen syndrome
15q13.3 microdeletion see 15q13.3 microdeletion
15q24 deletion see 15q24 microdeletion
15q24 microdeletion see 15q24 microdeletion
16p11.2 deletion syndrome see 16p11.2 deletion syndrome
17-beta hydroxysteroid dehydrogenase 3 deficiency see 17-beta hydroxysteroid dehydrogenase 3 deficiency
17β-hydroxysteroid dehydrogenase type 10 deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
17-ketosteroid reductase deficiency of testis see 17-beta hydroxysteroid dehydrogenase 3 deficiency
17-KSR deficiency see 17-beta hydroxysteroid dehydrogenase 3 deficiency
17p- syndrome see Smith-Magenis syndrome
17p11.2 monosomy see Smith-Magenis syndrome
17q21.31 deletion syndrome see Koolen-de Vries syndrome
17q21.31 microdeletion syndrome see Koolen-de Vries syndrome
18p isochromosome see tetrasomy 18p
21-hydroxylase deficiency see 21-hydroxylase deficiency
22q11.2 deletion syndrome see 22q11.2 deletion syndrome; Opitz G/BBB syndrome
22q11.2 duplication see 22q11.2 duplication
22q13.3 deletion syndrome see 22q13.3 deletion syndrome
22q13 deletion syndrome see 22q13.3 deletion syndrome
45,X see Turner syndrome
46,XX testicular disorder of sex development see 46,XX testicular disorder of sex development
46,XY CGD see Swyer syndrome
46,XY complete gonadal dysgenesis see Swyer syndrome
46,XY disorder of sex development due to LH defects see Leydig cell hypoplasia
46, XY Disorders of Sex Development
47,XX,+21 see Down syndrome
47,XXX see triple X syndrome
47,XXY see Klinefelter syndrome
47,XY,+21 see Down syndrome
47,XYY syndrome see 47,XYY syndrome
48,XXYY syndrome see 48,XXYY syndrome


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