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- 1-alpha-hydroxylase deficiency
- 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
- 11q terminal deletion 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
- 14q22-q23 microdeletion syndrome
- 14q22q23 microdeletion syndrome
- 14q24.1q24.3 microdeletion syndrome
- 14q32 duplication syndrome
- 15q overgrowth 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 deletion syndrome
- 15q26.3 microdeletion syndrome
- 16p11.2p12.2 microdeletion syndrome
- 16p11.2p12.2 microduplication syndrome
- 16p12.1p12.3 triplication syndrome
- 16p13.11 microdeletion syndrome
- 16p13.11 microduplication syndrome
- 16p13.3 microduplication syndrome
- 16q22 deletion 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 microdeletion syndrome
- 17q11.2 microduplication 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
- 1p21.3 microdeletion syndrome
- 1p31p32 microdeletion syndrome
- 1p35.2 microdeletion syndrome
- 1p36 deletion syndrome
- 1p36.33 duplication syndrome
- 1q21.1 microdeletion syndrome
- 1q21.1 microduplication syndrome
- 1q41q42 microdeletion syndrome
- 1q44 microdeletion syndrome
- 2,4-dienoyl-CoA reductase deficiency
- 2,8-dihydroxyadenine urolithiasis
- 2-aminoadipic 2-oxoadipic aciduria
- 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
- 20p subtelomeric deletion syndrome
- 20p12.3 microdeletion syndrome
- 20p13 microdeletion syndrome
- 20q11.2 microdeletion syndrome
- 20q11.2 microduplication syndrome
- 20q13.33 microdeletion syndrome
- 21q deletion syndrome
- 21q- syndrome
- 21q22.11q22.12 microdeletion syndrome
- 21q22.13q22.2 microdeletion syndrome
- 22q11.2 deletion syndrome
- 22q11.2 duplication syndrome
- 22q11.2 microduplication syndrome
- 22q11DS
- 22q13.3 deletion
- 2A syndrome
- 2p13.2 microdeletion syndrome
- 2p15p16.1 microdeletion syndrome
- 2p21 contiguous gene deletion syndrome
- 2p21 deletion syndrome
- 2p21 microdeletion syndrome
- 2p21 microdeletion syndrome without cystinuria
- 2q13 microdeletion syndrome
- 2q23.1 microdeletion syndrome
- 2q23.1 microduplication syndrome
- 2q31.1 microdeletion syndrome
- 2q32q33 microdeletion syndrome
- 2q33.1 microdeletion syndrome
- 2q37 microdeletion syndrome
- 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
- 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
- 3-M syndrome
- 3-mercaptopyruvate sulfurtransferase deficiency
- 3-methylcrotonyl-CoA carboxylase deficiency
- 3-methylcrotonylglycinuria
- 3-methylglutaconic aciduria
- 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-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome
- 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome
- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- 3-methylglutaconyl-CoA hydratase deficiency
- 3-oxothiolase deficiency
- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- 3-phosphoglycerate dehydrogenase deficiency, prenatal form
- 3-phosphoserine phosphatase deficiency, infantile/juvenile form
- 3-phosphoserine phosphatase deficiency, prenatal form
- 3A syndrome
- 3C syndrome
- 3M syndrome
- 3MC syndrome
- 3MG-CoA hydratase deficiency
- 3p deletion syndrome
- 3p- syndrome
- 3p25.3 microdeletion syndrome
- 3q subtelomere deletion syndrome
- 3q13 microdeletion syndrome
- 3q23 microdeletion syndrome
- 3q26 microduplication syndrome
- 3q26q27 microdeletion syndrome
- 3q27.3 microdeletion syndrome
- 3q29 microdeletion syndrome
- 3q29 microduplication syndrome
- 3qter deletion
- 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
- 4-HPPD deficiency
- 4-hydroxybutyric aciduria
- 4-hydroxyphenylpyruvic acid dioxygenase deficiency
- 45,X syndrome
- 45,X/46,XX syndrome
- 45,X/46,XY MGD
- 45,X/46,XY mixed gonadal dysgenesis
- 45,X0/46,XY MGD
- 45,X0/46,XY mixed gonadal dysgenesis
- 46,XX complete gonadal dysgenesis
- 46,XX difference of sex development
- 46,XX difference of sex development induced by androgens excess
- 46,XX difference of sex development induced by endogenous maternal-derived androgen
- 46,XX difference of sex development induced by exogenous maternal-derived androgen
- 46,XX difference of sex development induced by fetal androgens excess
- 46,XX difference of sex development induced by fetoplacental androgens excess
- 46,XX difference of sex development induced by maternal-derived androgen
- 46,XX difference of sex development-anorectal anomalies syndrome
- 46,XX difference of sex development-skeletal anomalies syndrome
- 46,XX disorder of gonadal development
- 46,XX disorder of sex development
- 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-anorectal anomalies syndrome
- 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 difference of sex development
- 46,XX ovotesticular disorder of sex development
- 46,XX ovotesticular DSD
- 46,XX pure gonadal dysgenesis
- 46,XX testicular difference of sex development
- 46,XX testicular disorder of sex development
- 46,XX testicular DSD
- 46,XX/46,XY chimerism
- 46,XY CGD
- 46,XY complete gonadal dysgenesis
- 46,XY difference of sex development
- 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
- 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
- 46,XY difference of sex development due to a cholesterol synthesis defect
- 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
- 46,XY difference of sex development due to a testosterone synthesis defect
- 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect
- 46,XY difference of sex development due to impaired androgen production
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency
- 46,XY difference of sex development due to testicular 17,20-desmolase deficiency
- 46,XY difference of sex development due to testicular steroidogenesis defect
- 46,XY difference of sex development induced by maternal exposure to endocrine disruptors
- 46,XY difference of sex development of endocrine origin
- 46,XY difference of sex development of gynecological interest
- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
- 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
- 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 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 a testosterone synthesis defect
- 46,XY disorder of sex development due to adrenal and testicular steroidogenesis 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 LH resistance or LHB deficiency
- 46,XY disorder of sex development due to 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 sex development-adrenal insufficiency due to CYP11A1 deficiency
- 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 a testosterone synthesis defect
- 46,XY DSD due to adrenal and testicular steroidogenesis 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 LH resistance or LHB deficiency
- 46,XY DSD due to 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 difference of sex development
- 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
- 4A syndrome
- 4H leukodystrophy
- 4H syndrome
- 4p- syndrome
- 4p16.3 microduplication syndrome
- 4q21 microdeletion syndrome
- 4q25 proximal deletion syndrome
- 5-amino-4-imidazole carboxamide ribosiduria
- 5-fluorouracil intoxication
- 5-fluorouracil poisoning
- 5-oxoprolinase deficiency
- 5p13 microduplication syndrome
- 5q- syndrome
- 5q14.3 microdeletion syndrome
- 5q23 microdeletion syndrome
- 5q31.3 microdeletion syndrome
- 5q35 microduplication syndrome
- 6-phosphogluconate dehydrogenase deficiency
- 6-pyruvoyl-tetrahydropterin synthase deficiency
- 6p subtelomeric deletion syndrome
- 6p22 microdeletion syndrome
- 6p25 microdeletion syndrome
- 6q terminal deletion syndrome
- 6q16 microdeletion syndrome
- 6q25.1 microdeletion syndrome
- 6q25.2q25.3 microdeletion syndrome
- 7-dehydrocholesterol reductase deficiency
- 7p22.1 microduplication syndrome
- 7q11.23 microduplication syndrome
- 7q31 microdeletion syndrome
- 7q36.3 microduplication syndrome
- 8p inverted duplication/deletion syndrome
- 8p11 myeloproliferative syndrome
- 8p11.2 deletion syndrome
- 8p23.1 duplication syndrome
- 8p23.1 microdeletion syndrome
- 8q12 microduplication syndrome
- 8q13 microdeletion syndrome
- 8q21.11 microdeletion syndrome
- 8q22.1 microdeletion syndrome
- 8q24.3 microdeletion syndrome
- 9p deletion syndrome
- 9p- syndrome
- 9p13 microdeletion syndrome
- 9q subtelomeric deletion syndrome
- 9q21.13 microdeletion syndrome
- 9q21.3 microdeletion syndrome
- 9q31.1q31.3 microdeletion syndrome
- 9q33.3q34.11 microdeletion syndrome
- 9qSTDS