0-9
-
10p12p11 microdeletion syndrome
-
10q22.3q23.3 microdeletion syndrome
-
10q22.3q23.3 microduplication syndrome
-
10q24 microduplication syndrome
-
11-beta-hydroxysteroid dehydrogenase deficiency type 1
-
11-beta-hydroxysteroid dehydrogenase deficiency type 2
-
11p11.2 deletion
-
11p15.4 microduplication syndrome
-
11q22.2q22.3 microdeletion syndrome
-
12p12.1 microdeletion syndrome
-
12p13.33 microdeletion syndrome
-
12q14 microdeletion syndrome
-
12q15q21.1 microdeletion syndrome
-
13q12.3 microdeletion syndrome
-
13q32 deletion
-
14q11.2 microdeletion syndrome
-
14q11.2 microduplication syndrome
-
14q12 microdeletion syndrome
-
14q22q23 microdeletion syndrome
-
14q22-q23 microdeletion syndrome
-
14q24.1q24.3 microdeletion syndrome
-
14q32 duplication syndrome
-
15q11.2 BP1-BP2 microdeletion syndrome
-
15q11.2 microdeletion syndrome
-
15q11q13 duplication syndrome
-
15q11q13 microduplication syndrome
-
15q13.3 microdeletion syndrome
-
15q14 microdeletion syndrome
-
15q24 microdeletion syndrome
-
15q26.3 microdeletion syndrome
-
15q26 deletion syndrome
-
15q overgrowth syndrome
-
16p11.2p12.2 microdeletion syndrome
-
16p11.2p12.2 microduplication syndrome
-
16p12.1p12.3 triplication syndrome
-
16p13.11 microdeletion syndrome
-
16p13.11 microduplication syndrome
-
16p13.2 microdeletion syndrome
-
16p13.3 microduplication syndrome
-
16q24.1 microdeletion syndrome
-
16q24.3 microdeletion syndrome
-
17-beta-hydroxysteroid dehydrogenase 3 deficiency
-
17-ketoreductase deficiency
-
17-ketosteroidreductase deficiency
-
17p11.2 microdeletion syndrome
-
17p11.2 microduplication syndrome
-
17p11.2p12 microduplication syndrome
-
17p13.3 duplication syndrome
-
17p13.3 microduplication syndrome
-
17q11.2 microduplication syndrome
-
17q11 microdeletion syndrome
-
17q12 microdeletion syndrome
-
17q12 microduplication syndrome
-
17q21.31 microdeletion syndrome
-
17q21.31 microduplication syndrome
-
17q23.1q23.2 microdeletion syndrome
-
17q24.2 microdeletion syndrome
-
18p- syndrome
-
18q deletion syndrome
-
18q- syndrome
-
19p13.12 microdeletion syndrome
-
19p13.13 microdeletion syndrome
-
19p13.3 microduplication syndrome
-
19q13.11 microdeletion syndrome
-
1-alpha-hydroxylase deficiency
-
1p21.3 microdeletion syndrome
-
1p31p32 microdeletion syndrome
-
1p35.2 microdeletion syndrome
-
1p36 deletion syndrome
-
1q21.1 microdeletion syndrome
-
1q21.1 microduplication syndrome
-
1q41q42 microdeletion syndrome
-
1q44 microdeletion syndrome
-
20p12.3 microdeletion syndrome
-
20p13 microdeletion syndrome
-
20p subtelomeric deletion syndrome
-
20q11.2 microdeletion syndrome
-
20q11.2 microduplication syndrome
-
20q13.33 microdeletion syndrome
-
21q22.11q22.12 microdeletion syndrome
-
21q22.13q22.2 microdeletion syndrome
-
21q deletion syndrome
-
21q- syndrome
-
22q11.2 deletion syndrome
-
22q11.2 microduplication syndrome
-
22q11DS
-
22q13 deletion
-
2,4-dienoyl-CoA reductase deficiency
-
2,8-dihydroxyadenine urolithiasis
-
2-aminoadipic 2-oxoadipic aciduria
-
2A syndrome
-
2-hydroxyglutaric acidemia
-
2-hydroxyglutaric aciduria
-
2-methyl-3-hydroxybutyric aciduria
-
2-methyl-3-hydroxybutyric aciduria, classic type
-
2-methyl-3-hydroxybutyric aciduria, infantile type
-
2-methyl-3-hydroxybutyric aciduria, neonatal type
-
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
-
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
-
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
-
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type
-
2-methylacyl-CoA racemase deficiency
-
2-methylbutyric aciduria
-
2-methylbutyryl-CoA dehydrogenase deficiency
-
2-oxoglutarate complex deficiency
-
2p13.2 microdeletion syndrome
-
2p15p16.1 microdeletion syndrome
-
2p21 contiguous gene deletion syndrome
-
2p21 deletion syndrome
-
2p21 microdeletion syndrome
-
2p21 microdeletion syndrome without cystinuria
-
2q23.1 microdeletion syndrome
-
2q23.1 microduplication syndrome
-
2q24 microdeletion syndrome
-
2q31.1 microdeletion syndrome
-
2q32q33 microdeletion syndrome
-
2q33.1 microdeletion syndrome
-
2q37 microdeletion syndrome
-
3A syndrome
-
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
-
3C syndrome
-
3-hydroxy-3-methylglutaric aciduria
-
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
-
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
3-hydroxyacyl-CoA dehydrogenase deficiency
-
3-hydroxyisobutyric aciduria
-
3-ketothiolase deficiency
-
3MC syndrome
-
3-mercaptopyruvate sulfurtransferase deficiency
-
3-methylcrotonyl-CoA carboxylase deficiency
-
3-methylcrotonylglycinuria
-
3-methylglutaconic aciduria
-
3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome
-
3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome
-
3-methylglutaconic aciduria type 1
-
3-methylglutaconic aciduria type 2
-
3-methylglutaconic aciduria type 3
-
3-methylglutaconic aciduria type 4
-
3-methylglutaconic aciduria type 5
-
3-methylglutaconic aciduria type 7
-
3-methylglutaconic aciduria type 8
-
3-methylglutaconic aciduria type 9
-
3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome
-
3-methylglutaconyl-CoA hydratase deficiency
-
3MG-CoA hydratase deficiency
-
3M syndrome
-
3-M syndrome
-
3-oxothiolase deficiency
-
3p25.3 microdeletion syndrome
-
3-Phosphoglycerate dehydrogenase deficiency
-
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
-
3-phosphoglycerate dehydrogenase deficiency, neonatal form
-
3-phosphoserine phosphatase deficiency
-
3p- syndrome
-
3q13 microdeletion syndrome
-
3q26 microduplication syndrome
-
3q26q27 microdeletion syndrome
-
3q27.3 microdeletion syndrome
-
3q29 microdeletion syndrome
-
3q29 microduplication syndrome
-
3q subtelomere deletion syndrome
-
3qter deletion
-
45,X0/46,XY MGD
-
45,X0/46,XY mixed gonadal dysgenesis
-
45,X/46,XX syndrome
-
45,X/46,XY MGD
-
45,X/46,XY mixed gonadal dysgenesis
-
45,X syndrome
-
46,XX/46,XY chimerism
-
46,XX complete gonadal dysgenesis
-
46,XX disorder of gonadal development
-
46,XX disorder of sex development
-
46,XX disorder of sex development-anorectal anomalies syndrome
-
46,XX disorder of sex development induced by androgens excess
-
46,XX disorder of sex development induced by endogenous maternal-derived androgen
-
46,XX disorder of sex development induced by exogenous maternal-derived androgen
-
46,XX disorder of sex development induced by fetal androgens excess
-
46,XX disorder of sex development induced by fetoplacental androgens excess
-
46,XX disorder of sex development induced by maternal-derived androgen
-
46,XX disorder of sex development-skeletal anomalies syndrome
-
46,XX DSD
-
46,XX DSD induced by androgens excess
-
46,XX DSD induced by endogenous maternal-derived androgen
-
46,XX DSD induced by exogenous maternal-derived androgen
-
46,XX DSD induced by fetal androgens excess
-
46,XX DSD induced by fetoplacental androgens excess
-
46,XX DSD induced by maternal-derived androgen
-
46,XX gonadal dysgenesis
-
46,XX ovarian dysgenesis
-
46,XX ovarian dysgenesis-short stature syndrome
-
46,XX ovotesticular disorder of sex development
-
46,XX ovotesticular DSD
-
46,XX pure gonadal dysgenesis
-
46,XX testicular disorder of sex development
-
46,XX testicular DSD
-
46,XY CGD
-
46,XY complete gonadal dysgenesis
-
46,XY disorder of gonadal development
-
46,XY disorder of sex developement due to partial LH receptor inactivation
-
46,XY disorder of sex developement due to partial LH resistance
-
46,XY disorder of sex developement due to partial luteinizing hormone resistance
-
46,XY disorder of sex development
-
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
-
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
-
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
46,XY disorder of sex development due to a cholesterol synthesis defect
-
46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
-
46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
-
46,XY disorder of sex development due to a testosterone synthesis defect
-
46,XY disorder of sex development due to complete LH receptor inactivation
-
46,XY disorder of sex development due to complete LH resistance
-
46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation
-
46,XY disorder of sex development due to complete luteinizing hormone resistance
-
46,XY disorder of sex development due to impaired androgen production
-
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
-
46,XY disorder of sex development due to LHB deficiency
-
46,XY disorder of sex development due to LH resistance or LHB deficiency
-
46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
-
46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
-
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
-
46,XY disorder of sex development due to testicular steroidogenesis defect
-
46,XY disorder of sex development induced by maternal exposure to endocrine disruptors
-
46,XY disorder of sex development of endocrine origin
-
46,XY disorder of sex development of gynecological interest
-
46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
-
46,XY DSD
-
46,XY DSD due to 5-alpha-reductase 2 deficiency
-
46,XY DSD due to a cholesterol synthesis defect
-
46,XY DSD due to adrenal and testicular steroidogenesis defect
-
46,XY DSD due to a testosterone synthesis defect
-
46,XY DSD due to complete LH receptor inactivation
-
46,XY DSD due to complete LH resistance
-
46,XY DSD due to complete luteinizing hormone receptor inactivation
-
46,XY DSD due to complete luteinizing hormone resistance
-
46,XY DSD due to impaired androgen production
-
46,XY DSD due to LHB deficiency
-
46,XY DSD due to LH resistance or LHB deficiency
-
46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
-
46,XY DSD due to luteinizing hormone subunit beta deficiency
-
46,XY DSD due to partial LH receptor inactivation
-
46,XY DSD due to partial LH resistance
-
46,XY DSD due to partial luteinizing hormone resistance
-
46,XY DSD due to testicular steroidogenesis defect
-
46,XY DSD induced by maternal-exposure to endocrine disruptors
-
46,XY DSD of endocrine origin
-
46,XY DSD of gynecological interest
-
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
-
46,XY ovotesticular disorder of sex development
-
46,XY ovotesticular DSD
-
46,XY partial gonadal dysgenesis
-
46,XY partial testicular dysgenesis
-
46,XY PGD
-
46,XY pure gonadal dysgenesis
-
47,XXX syndrome
-
47,XYY syndrome
-
48,XXXX syndrome
-
48,XXXY syndrome
-
48,XXYY syndrome
-
48,XYYY syndrome
-
49,XXXXX syndrome
-
49,XXXXY syndrome
-
49,XXXYY syndrome
-
49,XYYYY syndrome
-
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
-
4A syndrome
-
4-HPPD deficiency
-
4H syndrome
-
4-hydroxybutyric aciduria
-
4-hydroxyphenylpyruvic acid dioxygenase deficiency
-
4p16.3 microduplication syndrome
-
4p- syndrome
-
4q21 microdeletion syndrome
-
4q25 proximal deletion syndrome
-
5-amino-4-imidazole carboxamide ribosiduria
-
5-fluorouracil intoxication
-
5-fluorouracil poisoning
-
5-fluorouracil toxicity
-
5-oxoprolinase deficiency
-
5p13 microduplication syndrome
-
5q14.3 microdeletion syndrome
-
5q23 microdeletion syndrome
-
5q31.3 microdeletion syndrome
-
5q35 microduplication syndrome
-
5q- syndrome
-
6p22 microdeletion syndrome
-
6p25 microdeletion syndrome
-
6-phosphogluconate dehydrogenase deficiency
-
6p subtelomeric deletion syndrome
-
6-pyruvoyl-tetrahydropterin synthase deficiency
-
6q16 microdeletion syndrome
-
6q25 microdeletion syndrome
-
6q terminal deletion syndrome
-
7-dehydrocholesterol reductase deficiency
-
7p22.1 microduplication syndrome
-
7q11.23 microduplication syndrome
-
7q31 microdeletion syndrome
-
7q36.3 microduplication syndrome
-
8p11.2 deletion syndrome
-
8p11 myeloproliferative syndrome
-
8p23.1 duplication syndrome
-
8p23.1 microdeletion syndrome
-
8p inverted duplication/deletion syndrome
-
8q12 microduplication syndrome
-
8q13 microdeletion syndrome
-
8q21.11 microdeletion syndrome
-
8q22.1 microdeletion syndrome
-
8q24.3 microdeletion syndrome
-
9p13 microdeletion syndrome
-
9p deletion syndrome
-
9p- syndrome
-
9q21.13 microdeletion syndrome
-
9q21.3 microdeletion syndrome
-
9q31.1q31.3 microdeletion syndrome
-
9q33.3q34.11 microdeletion syndrome
-
9qSTDS
-
9q subtelomeric deletion syndrome