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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
17q21.31 microdeletion syndrome
17q21.31 microdeletion syndrome
see
17q21.31 microdeletion 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
Published: February 11, 2013