Health Conditions - Genetics Home Reference: 0-9-27 [RARE DISEASES LIBRARY]

Health Conditions - Genetics Home Reference

 Health Conditions

Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.

• 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 WAGR syndrome
• 11p partial monosomy syndrome, see WAGR syndrome
• 11q deletion disorder, see Jacobsen syndrome
• 11q deletion syndrome, see Jacobsen syndrome
• 11q terminal deletion disorder, see Jacobsen syndrome
• 11q- deletion syndrome, see Jacobsen syndrome
• 11q23 deletion disorder, see Jacobsen syndrome
• 15q13.3 microdeletion
• 15q13.3 microdeletion syndrome, see 15q13.3 microdeletion
• 15q24 deletion, see 15q24 microdeletion
• 15q24 microdeletion
• 15q24 microdeletion syndrome, see 15q24 microdeletion
• 16p11.2 deletion syndrome
• 16p11.2 duplication
• 16p11.2 duplication syndrome, see 16p11.2 duplication
• 16p11.2 microduplication, see 16p11.2 duplication
• 17 alpha-hydroxylase/17,20-lyase deficiency
• 17-alpha-hydroxylase deficiency, see 17 alpha-hydroxylase/17,20-lyase deficiency
• 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia, see 17 alpha-hydroxylase/17,20-lyase deficiency
• 17-beta hydroxysteroid dehydrogenase 3 deficiency
• 17-beta hydroxysteroid dehydrogenase III deficiency, see 17-beta hydroxysteroid dehydrogenase 3 deficiency
• 17-beta-hydroxysteroid dehydrogenase IV deficiency, see D-bifunctional protein 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
• 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 18-hydroxylase deficiency, see corticosterone methyloxidase deficiency
• 18-oxidase deficiency, see corticosterone methyloxidase deficiency
• 18p isochromosome, see tetrasomy 18p
• 18p tetrasomy, see tetrasomy 18p
• 18q deletion syndrome
• 18q- syndrome, see 18q deletion syndrome
• 19p13.13 deletion syndrome
• 19p13.13 microdeletion, see 19p13.13 deletion syndrome
• 19p13.13 microdeletion syndrome, see 19p13.13 deletion syndrome
• 1p36 deletion syndrome
• 1q21.1 contiguous gene deletion, see 1q21.1 microdeletion
• 1q21.1 deletion, see 1q21.1 microdeletion
• 1q21.1 duplication, see 1q21.1 microduplication
• 1q21.1 duplication syndrome, see 1q21.1 microduplication
• 1q21.1 microdeletion
• 1q21.1 microduplication
• 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
• 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 glycinuria, see 2-methylbutyryl-CoA dehydrogenase deficiency
• 2-methylbutyryl-CoA dehydrogenase deficiency
• 2-methylbutyryl-coenzyme A dehydrogenase deficiency, see 2-methylbutyryl-CoA dehydrogenase deficiency
• 21-hydroxylase deficiency
• 22q11.2 deletion syndrome
• 22q11.2 duplication
• 22q11.2DS, see 22q11.2 deletion syndrome
• 22q13 deletion syndrome, see 22q13.3 deletion syndrome
• 22q13.3 deletion syndrome
• 2M3HBA, see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 2q37 deletion syndrome
• 3 beta-HSD deficiency, see 3-beta-hydroxysteroid dehydrogenase deficiency
• 3 beta-ol dehydrogenase deficiency, see 3-beta-hydroxysteroid dehydrogenase deficiency
• 3 methylglutaconic aciduria, type II, see Barth 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-hydroxysteroid dehydrogenase deficiency
• 3-beta–hydroxysteroid 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
• 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency, see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• 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
• 3-MCC, see 3-methylcrotonyl-CoA carboxylase deficiency
• 3-MCC deficiency, see 3-methylcrotonyl-CoA carboxylase deficiency
• 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 type 2, see Barth syndrome
• 3-methylglutaconic aciduria type 3, see Costeff syndrome
• 3-methylglutaconic aciduria type III, see Costeff syndrome
• 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, and Leigh-like syndrome, seeMEGDEL syndrome
• 3-methylglutaconic aciduria type V, see dilated cardiomyopathy with ataxia syndrome
• 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, see MEGDEL syndrome
• 3-methylglutaconic aciduria, type I, see 3-methylglutaconyl-CoA hydratase deficiency
• 3-methylglutaconyl-CoA hydratase deficiency
• 3-Methylhydroxybutyric acidemia, see beta-ketothiolase deficiency
• 3-MG-CoA-hydratase deficiency, see 3-methylglutaconyl-CoA hydratase 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
• 3-PGDH deficiency, see phosphoglycerate dehydrogenase deficiency
• 3-phosphoglycerate dehydrogenase deficiency, see phosphoglycerate dehydrogenase deficiency
• 3b-hydroxysteroid dehydrogenase deficiency, see 3-beta-hydroxysteroid dehydrogenase deficiency
• 3beta-HSDH deficiency, see congenital bile acid synthesis defect type 1
• 3beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency, see congenital bile acid synthesis defect type 1
• 3beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency, see congenital bile acid synthesis defect type 1
• 3H2MBD deficiency, see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 3HMG, see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• 3MC syndrome
• 3MCC, see 3-methylcrotonyl-CoA carboxylase deficiency
• 3p deletion syndrome
• 3p partial monosomy syndrome, see 3p deletion syndrome
• 3p- syndrome, see 3p deletion syndrome
• 3β-HSD deficiency, see 3-beta-hydroxysteroid dehydrogenase deficiency
• 3β-HSD deficiency congenital adrenal hyperplasia, see 3-beta-hydroxysteroid dehydrogenase deficiency
• 3β-hydroxysteroid dehydrogenase deficiency, see 3-beta-hydroxysteroid dehydrogenase deficiency
• 4-hydroxybutyric aciduria, see succinic semialdehyde dehydrogenase deficiency
• 4-hydroxybutyricaciduria, see succinic semialdehyde dehydrogenase deficiency
• 45,X, see Turner syndrome
• 46,XX disorder of sex development (DSD) due to placental aromatase deficiency, see aromatase deficiency
• 46,XX sex reversal, see 46,XX testicular disorder of sex development
• 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 sex reversal, see Swyer syndrome
• 47,XX,+21, see Down syndrome
• 47,XXX, see triple X syndrome
• 47,XXX syndrome, see triple X syndrome
• 47,XY,+21, see Down syndrome
• 47,XYY syndrome
• 48,XXYY syndrome
• 4H syndrome, see Pol III-related leukodystrophy
• 4p deletion syndrome, see Wolf-Hirschhorn syndrome
• 4p- syndrome, see Wolf-Hirschhorn syndrome
• 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
• 5q minus syndrome
• 5q- syndrome, see 5q minus syndrome
• 6q24-related transient neonatal diabetes mellitus
• 6q24-TNDM, see 6q24-related transient neonatal diabetes mellitus
• 7-Dehydrocholesterol reductase deficiency, see Smith-Lemli-Opitz syndrome
• 7q11.23 duplication syndrome
• 7q11.23 microduplication syndrome, see 7q11.23 duplication syndrome
• 8p11 myeloproliferative syndrome
• 8p11 stem cell leukemia/lymphoma syndrome, see 8p11 myeloproliferative syndrome
• 8p11 stem cell syndrome, see 8p11 myeloproliferative syndrome
• 9q subtelomeric deletion syndrome, see Kleefstra syndrome
• 9q- syndrome, see Kleefstra syndrome
• 9q22 deletion syndrome, see 9q22.3 microdeletion
• 9q22.3 deletion, see 9q22.3 microdeletion
• 9q22.3 microdeletion
• 9q34.3 deletion syndrome, see Kleefstra syndrome
• 9q34.3 microdeletion syndrome, see Kleefstra syndrome