0-9

10p13-p14 deletion syndromeView → 10q22.3q23.3 microdeletion syndromeView → 10q22.3q23.3 microduplication syndromeView → 11p15.4 microduplication syndromeView → 11q22.2q22.3 microdeletion syndromeView → 12p12.1 microdeletion syndromeView → 12q14 microdeletion syndromeView → 12q15q21 microdeletion syndromeView → 12q24.31 microdeletion syndromeView → 13q12.3 microdeletion syndromeView → 14q11.2 microdeletion syndromeView → 14q11.2 microduplication syndromeView → 14q22q23 microdeletion syndromeView → 14q24.1q24.3 microdeletion syndromeView → 14q32 duplication syndromeView → 15q overgrowth syndromeView → 15q11.2 microdeletion syndrome1 recruitingView → 15q11q13 microduplication syndromeView → 15q13.3 microdeletion syndrome1 recruitingView → 15q24 microdeletion syndrome1 recruitingView → 16p11.2p12.2 microdeletion syndromeView → 16p11.2p12.2 microduplication syndromeView → 16p12.1p12.3 triplication syndromeView → 16p13.11 microdeletion syndrome1 recruitingView → 16p13.11 microduplication syndrome1 recruitingView → 16p13.3 microduplication syndrome1 recruitingView → 16q22 deletion syndromeView → 16q24.1 microdeletion syndromeView → 16q24.3 microdeletion syndromeView → 17p11.2 microduplication syndrome1 recruitingView → 17p13.3 microduplication syndrome1 recruitingView → 17q11 microdeletion syndromeView → 17q11.2 microduplication syndrome1 recruitingView → 17q12 microdeletion syndrome1 recruitingView → 17q12 microduplication syndrome1 recruitingView → 17q21.31 microdeletion syndrome1 recruitingView → 17q21.31 microduplication syndrome1 recruitingView → 17q23.1q23.2 microdeletion syndromeView → 17q24.2 microdeletion syndromeView → 19p13.12 microdeletion syndromeView → 19p13.13 microdeletion syndromeView → 19p13.3 microduplication syndromeView → 19q13.11 microdeletion syndromeView → 1p21.3 microdeletion syndromeView → 1p31p32 microdeletion syndromeView → 1p35.2 microdeletion syndromeView → 1p36 deletion syndrome1 recruitingView → 1p36.33 duplication syndromeView → 1q21.1 microdeletion syndrome1 recruitingView → 1q21.1 microduplication syndrome1 recruitingView → 1q41q42 microdeletion syndromeView → 1q44 microdeletion syndromeView → 2-aminoadipic 2-oxoadipic aciduriaMetabolicView → 2-methylbutyryl-CoA dehydrogenase deficiencyView → 20p12.3 microdeletion syndromeView → 20p13 microdeletion syndromeView → 20q11.2 microdeletion syndromeView → 20q11.2 microduplication syndromeView → 20q13.33 microdeletion syndromeView → 21q deletion syndromeView → 21q22.11q22.12 microdeletion syndromeView → 22q11.2 deletion syndrome11 recruitingView → 22q11.2 duplication syndromeView → 2p13.2 microdeletion syndromeView → 2p14p15 microdeletion syndromeView → 2p15p16.1 microdeletion syndromeView → 2p21 microdeletion syndromeView → 2p21 microdeletion syndrome without cystinuriaRenalView → 2p25.3 microduplication syndromeView → 2q13 microdeletion syndromeView → 2q23.1 microdeletion syndromeView → 2q23.1 microduplication syndromeView → 2q31.1 microdeletion syndromeView → 2q32q33 deletion syndromeView → 2q37 microdeletion syndrome1 recruitingView → 3-hydroxy-3-methylglutaric aciduriaMetabolicView → 3-hydroxy-3-methylglutaryl-CoA synthase deficiencyView → 3-hydroxyisobutyric aciduriaMetabolicView → 3-methylcrotonyl-CoA carboxylase deficiencyView → 3-methylglutaconic aciduria type 11 recruitingMetabolicView → 3-methylglutaconic aciduria type 31 recruitingMetabolicView → 3-methylglutaconic aciduria type 41 recruitingMetabolicView → 3-methylglutaconic aciduria type 81 recruitingMetabolicView → 3-methylglutaconic aciduria type 9MetabolicView → 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndromeBloodView → 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formView → 3-phosphoserine phosphatase deficiency, infantile/juvenile formView → 3C syndrome1 recruitingView → 3M syndromeView → 3MC syndromeView → 3p25.3 microdeletion syndromeView → 3q13 microdeletion syndromeView → 3q26 microduplication syndromeView → 3q26q27 microdeletion syndromeView → 3q26q28 deletion syndromeView → 3q27.3 microdeletion syndromeView → 3q29 microdeletion syndrome1 recruitingView → 3q29 microduplication syndrome1 recruitingView → 45,X/46,XY mixed gonadal dysgenesisView → 46,XX difference of sex developmentGroupView → 46,XX difference of sex development induced by androgens excessGroupView → 46,XX difference of sex development induced by fetal androgens excessGroupView → 46,XX difference of sex development induced by fetoplacental androgens excessGroupView → 46,XX difference of sex development induced by maternal-derived androgenGroupView → 46,XX difference of sex development-anorectal anomalies syndromeView → 46,XX difference of sex development-skeletal anomalies syndromeView → 46,XX disorder of gonadal developmentGroupView → 46,XX gonadal dysgenesis12 recruitingView → 46,XX ovarian dysgenesis-short stature syndromeView → 46,XX ovotesticular difference of sex developmentView → 46,XX testicular difference of sex developmentView → 46,XY complete gonadal dysgenesis1 recruitingView → 46,XY difference of sex developmentGroupView → 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiencyView → 46,XY difference of sex development due to 5-alpha-reductase 2 deficiencyView → 46,XY difference of sex development due to a cholesterol synthesis defectGroupView → 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissueGroupView → 46,XY difference of sex development due to a testosterone synthesis defectGroupView → 46,XY difference of sex development due to adrenal and testicular steroidogenesis defectRenalGroupView → 46,XY difference of sex development due to impaired androgen productionGroupView → 46,XY difference of sex development due to isolated 17,20-lyase deficiencyView → 46,XY difference of sex development due to testicular 17,20-desmolase deficiencyView → 46,XY difference of sex development due to testicular steroidogenesis defectGroupView → 46,XY difference of sex development induced by maternal exposure to endocrine disruptorsGroupView → 46,XY difference of sex development of endocrine originGroupView → 46,XY difference of sex development of gynecological interestGroupView → 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiencyRenalView → 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defectGroupView → 46,XY disorder of gonadal developmentGroupView → 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 recruitingView → 46,XY ovotesticular difference of sex developmentView → 46,XY partial gonadal dysgenesis2 recruitingView → 47,XYY syndrome2 recruitingView → 48,XXXY syndromeView → 48,XXYY syndrome2 recruitingView → 48,XYYY syndromeView → 49,XXXXY syndrome2 recruitingView → 49,XXXYY syndrome1 recruitingView → 49,XYYYY syndrome1 recruitingView → 4H leukodystrophy1 recruitingNeurologicalView → 4p16.3 microduplication syndrome1 recruitingView → 4q21 microdeletion syndromeView → 4q25 proximal deletion syndromeView → 5-oxoprolinase deficiencyView → 5p13 microduplication syndromeView → 5q14.3 microdeletion syndromeView → 5q22 microdeletion syndromeView → 5q35 microduplication syndrome1 recruitingView → 6-phosphogluconate dehydrogenase deficiencyView → 6-pyruvoyl-tetrahydropterin synthase deficiencyView → 6p22 microdeletion syndromeView → 6q terminal deletion syndromeView → 6q16 microdeletion syndrome1 recruitingView → 6q25.1 microdeletion syndromeView → 6q25.2q25.3 microdeletion syndromeView → 7p22.1 microduplication syndromeView → 7q11.23 microduplication syndrome3 recruitingView → 7q31 microdeletion syndromeView → 8p inverted duplication/deletion syndromeView → 8p11.2 deletion syndromeView → 8p23.1 duplication syndromeView → 8p23.1 microdeletion syndromeView → 8q12 microduplication syndromeView → 8q21.11 microdeletion syndromeView → 8q22.1 microdeletion syndromeView → 8q24.3 microdeletion syndromeView → 9p13 microdeletion syndromeView → 9p23p22.2 microdeletion syndromeView → 9q21.13 microdeletion syndromeView → 9q31.1q31.3 microdeletion syndromeView → 9q33.3q34.11 microdeletion syndromeView → Åland Islands eye diseaseView → OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiencyRetired termView →