0-9 - Health Conditions - Genetics Home Reference - NIH

0-9 - Health Conditions - Genetics Home Reference - NIH

Health Conditions

Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.

• 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
• 16p12.1 microdeletion, see 16p12.2 microdeletion
• 16p12.2 microdeletion
• 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 duplication syndrome, see Potocki-Lupski syndrome
• 17p11.2 microduplication syndrome, see Potocki-Lupski syndrome
• 17p11.2 monosomy, see Smith-Magenis syndrome
• 17q12 chromosomal microdeletion, see 17q12 deletion syndrome
• 17q12 deletion syndrome
• 17q12 duplication
• 17q12 duplication syndrome, see 17q12 duplication
• 17q12 microdeletion, see 17q12 deletion syndrome
• 17q12 microduplication, see 17q12 duplication
• 17q12 microduplication syndrome, see 17q12 duplication
• 17q12 recurrent deletion syndrome, see 17q12 deletion syndrome
• 17q12 recurrent duplication, see 17q12 duplication
• 17q21.31 deletion syndrome, see Koolen-de Vries syndrome
• 17q21.31 microdeletion syndrome, see Koolen-de Vries syndrome
• 17β-hydroxysteroid dehydrogenase type 10 deficiency, see HSD10 disease
• 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, see Distal 18q deletion syndrome
• 18q deletion syndrome, see Proximal 18q deletion syndrome
• 18q- syndrome, see Distal 18q deletion syndrome
• 18q- syndrome, see Proximal 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 Short/branched chain acyl-CoA dehydrogenase deficiency
• 2-MBCD deficiency, see Short/branched chain acyl-CoA dehydrogenase deficiency
• 2-MBG, see Short/branched chain acyl-CoA dehydrogenase deficiency
• 2-methyl-3-hydroxybutyric aciduria, see HSD10 disease
• 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, see HSD10 disease
• 2-methylbutyryl glycinuria, see Short/branched chain acyl-CoA dehydrogenase deficiency
• 2-methylbutyryl-CoA dehydrogenase deficiency, see Short/branched chain acyl-CoA dehydrogenase deficiency
• 2-methylbutyryl-coenzyme A dehydrogenase deficiency, see Short/branched chain acyl-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 HSD10 disease
• 2q23.1 microdeletion syndrome, see MBD5-associated neurodevelopmental disorder
• 2q23.1 microduplication syndrome, see MBD5-associated neurodevelopmental disorder
• 2q32 deletion syndrome, see SATB2-associated syndrome
• 2q33.1 microdeletion syndrome, see SATB2-associated syndrome
• 2q37 deletion syndrome
• 2q37 microdeletion syndrome, see 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 HSD10 disease
• 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 7, see CLPB deficiency
• 3-methylglutaconic aciduria type III, see Costeff syndrome
• 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, and Leigh-like syndrome, see MEGDEL syndrome
• 3-methylglutaconic aciduria type V, see Dilated cardiomyopathy with ataxia syndrome
• 3-methylglutaconic aciduria type VII, see CLPB deficiency
• 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia, see CLPB deficiency
• 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-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome, see CLPB 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 HSD10 disease
• 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
• 3q subtelomere deletion syndrome, see 3q29 microdeletion syndrome
• 3q29 deletion syndrome, see 3q29 microdeletion syndrome
• 3q29 interstitial microduplication, see 3q29 microduplication syndrome
• 3q29 microdeletion syndrome
• 3q29 microduplication, see 3q29 microduplication syndrome
• 3q29 microduplication syndrome
• 3q29 recurrent deletion, see 3q29 microdeletion 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 alpha aminobutyrate transaminase deficiency, see GABA-transaminase 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,XXY syndrome, see Klinefelter syndrome
• 47,XY,+21, see Down syndrome
• 47,XYY syndrome
• 48,XXXY syndrome
• 48,XXYY syndrome
• 49,XXXXY chromosomal anomaly, see 49,XXXXY syndrome
• 49,XXXXY 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 SMA, see Spinal muscular atrophy
• 5q- syndrome, see 5q minus syndrome
• 5q31.3 microdeletion 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
• Published: December 4, 2018
• The resources on this site should not be used as a substitute for professional medical care or advice. Users with questions about a personal health condition should consult with a qualified healthcare professional.