Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency - See Hyperprolinemia type 2
• 10p deletion - See Chromosome 10p deletion
• 10p duplication - See Chromosome 10p duplication
• 10p monosomy - See Chromosome 10p deletion
• 10p trisomy - See Chromosome 10p duplication
• 10q deletion - See Chromosome 10q deletion
• 10q duplication - See Chromosome 10q duplication
• 10q monosomy - See Chromosome 10q deletion
• 10q trisomy - See Chromosome 10q duplication
• 10q22.3q23 microdeletion syndrome
• 11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of - See Cortisone reductase deficiency
• 11-beta-hydroxylase deficiency
• 11p deletion - See Chromosome 11p deletion
• 11p deletion syndrome - See WAGR syndrome
• 11p duplication - See Chromosome 11p duplication
• 11p monosomy - See Chromosome 11p deletion
• 11p trisomy - See Chromosome 11p duplication
• 11p11.2 deletion - See Potocki-Shaffer syndrome
• 11q deletion - See Chromosome 11q deletion
• 11q duplication - See Chromosome 11q duplication
• 11q monosomy - See Chromosome 11q deletion
• 11q trisomy - See Chromosome 11q duplication
• 12p deletion - See Chromosome 12p deletion
• 12p duplication - See Chromosome 12p duplication
• 12p monosomy - See Chromosome 12p deletion
• 12p trisomy - See Chromosome 12p duplication
• 12q deletion - See Chromosome 12q deletion
• 12q duplication - See Chromosome 12q duplication
• 12q monosomy - See Chromosome 12q deletion
• 12q trisomy - See Chromosome 12q duplication
• 12q14 microdeletion syndrome
• 13q deletion - See Chromosome 13q deletion
• 13q duplication - See Chromosome 13q duplication
• 13q monosomy - See Chromosome 13q deletion
• 13q trisomy - See Chromosome 13q duplication
• 14q deletion - See Chromosome 14q deletion
• 14q duplication - See Chromosome 14q duplication
• 14q monosomy - See Chromosome 14q deletion
• 14q trisomy - See Chromosome 14q duplication
• 14q22q23 microdeletion syndrome - See Frias syndrome
• 14q22-q23 microdeletion syndrome - See Frias syndrome
• 15q deletion - See Chromosome 15q deletion
• 15q duplication - See Chromosome 15q duplication
• 15q monosomy - See Chromosome 15q deletion
• 15q trisomy - See Chromosome 15q duplication
• 15q11.2 BP1-BP2 microdeletion syndrome - See 15q11.2 microdeletion
• 15q11.2 microdeletion
• 15q11.2 microdeletion syndrome - See 15q11.2 microdeletion
• 15q13.3 microdeletion - See 15q13.3 microdeletion syndrome
• 15q13.3 microdeletion syndrome
• 15q13.3 microduplication - See 15q13.3 microduplication syndrome
• 15q13.3 microduplication syndrome
• 15q24 microdeletion syndrome
• 15q25.2 deletion - See Chromosome 15q25.2 microdeletion
• 15q25.2 deletion syndrome - See Chromosome 15q25.2 microdeletion
• 16p deletion - See Chromosome 16p deletion
• 16p duplication - See Chromosome 16p duplication
• 16p monosomy - See Chromosome 16p deletion
• 16p trisomy - See Chromosome 16p duplication
• 16p11.2 deletion syndrome
• 16p11.2 duplication
• 16p11.2 duplication syndrome - See 16p11.2 duplication
• 16p11.2 microduplication - See 16p11.2 duplication
• 16p13.11 microduplication syndrome
• 16p13.3 deletion syndrome - See Chromosome 16p13.3 deletion syndrome
• 16p13.3 duplication - See Chromosome 16p13.3 duplication
• 16p13.3 microduplication syndrome - See Chromosome 16p13.3 duplication
• 16q deletion - See Chromosome 16q deletion
• 16q duplication - See Chromosome 16q duplication
• 16q monosomy - See Chromosome 16q deletion
• 16q trisomy - See Chromosome 16q duplication
• 16q24.3 microdeletion syndrome
• 17 alpha ketosteroid reductase deficiency of testis - See 17-beta hydroxysteroid dehydrogenase 3 deficiency
• 17 alpha KSR deficiency - See 17-beta hydroxysteroid dehydrogenase 3 deficiency
• 17 beta hydroxysteroid dehydrogenase III deficiency - See 17-beta hydroxysteroid dehydrogenase 3 deficiency
• 17 beta-hydroxysteroid dehydrogenase type 10 deficiency - See 2-methyl-3-hydroxybutyric aciduria
• 17-alpha-hydroxylase deficiency
• 17-beta hydroxysteroid dehydrogenase 3 deficiency
• 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY - See D-bifunctional protein deficiency
• 17p deletion - See Chromosome 17p deletion
• 17p duplication - See Chromosome 17p duplication
• 17p monosomy - See Chromosome 17p deletion
• 17p trisomy - See Chromosome 17p duplication
• 17p13.1 deletion syndrome - See Chromosome 17p13.1 deletion syndrome
• 17q deletion - See Chromosome 17q deletion
• 17q duplication - See Chromosome 17q duplication
• 17q monosomy - See Chromosome 17q deletion
• 17q trisomy - See Chromosome 17q duplication
• 17q11 microdeletion syndrome - See Chromosome 17q11.2 deletion syndrome
• 17q12 deletion syndrome
• 17q12 duplication
• 17q12 microdeletion syndrome - See 17q12 deletion syndrome
• 17q12 microduplication - See 17q12 duplication
• 17q12 microduplication syndrome - See 17q12 duplication
• 17q12 recurrent deletion syndrome - See 17q12 deletion syndrome
• 17q21.31 deletion syndrome - See Koolen de Vries syndrome
• 17q21.31 microdeletion syndrome - See Koolen de Vries syndrome
• 17q23.1q23.2 microdeletion syndrome
• 17q23.1-q23.2 microdeletion syndrome - See 17q23.1q23.2 microdeletion syndrome
• 18 alpha hydroxylase deficiency - See 18 Hydroxylase deficiency
• 18 Hydroxylase deficiency
• 18 trisomy - See Trisomy 18
• 18p- - See Chromosome 18p deletion
• 18p duplication - See Chromosome 18p duplication
• 18p trisomy - See Chromosome 18p duplication
• 18q duplication - See Chromosome 18q duplication
• 18q partial trisomy - See Chromosome 18q duplication
• 18q trisomy - See Chromosome 18q duplication
• 19p deletion - See Chromosome 19p deletion
• 19p duplication - See Chromosome 19p duplication
• 19p monosomy - See Chromosome 19p deletion
• 19p trisomy - See Chromosome 19p duplication
• 19p13.12 microdeletion syndrome
• 19q deletion - See Chromosome 19q deletion
• 19q duplication - See Chromosome 19q duplication
• 19q monosomy - See Chromosome 19q deletion
• 19q trisomy - See Chromosome 19q duplication
• 1p deletion - See Chromosome 1p deletion
• 1p duplication - See Chromosome 1p duplication
• 1p monosomy - See Chromosome 1p deletion
• 1p trisomy - See Chromosome 1p duplication
• 1p36 deletion syndrome - See Chromosome 1p36 deletion syndrome
• 1q deletion - See Chromosome 1q deletion
• 1q duplications
• 1q monosomy - See Chromosome 1q deletion
• 1q21.1 microdeletion - See 1q21.1 microdeletion syndrome
• 1q21.1 microdeletion syndrome
• 1q21.1 microduplication syndrome - See Chromosome 1q21.1 duplication syndrome
• 1q41-q42 deletion syndrome - See Chromosome 1q41-q42 deletion syndrome
• 1q41-q42 microdeletion syndrome - See Chromosome 1q41-q42 deletion syndrome
• 1q44 microdeletion syndrome
• 2 alpha ketoglutarate dehydrogenase deficiency - See Alpha-ketoglutarate dehydrogenase deficiency
• 2,4-alpha dienoyl-CoA reductase deficiency - See 2,4-Dienoyl-CoA reductase deficiency
• 2,4-Dienoyl-CoA reductase deficiency
• 2,8-dihydroxyadenine urolithiasis - See Adenine phosphoribosyltransferase deficiency
• 20p deletion - See Chromosome 20p deletion
• 20p duplication - See Chromosome 20p duplication
• 20p monosomy - See Chromosome 20p deletion
• 20p trisomy - See Chromosome 20p duplication
• 20p12.3 microdeletion syndrome
• 20q deletion - See Chromosome 20q deletion
• 20q duplication - See Chromosome 20q duplication
• 20q monosomy - See Chromosome 20q deletion
• 20q trisomy - See Chromosome 20q duplication
• 21 hydroxylase deficiency - See 21-hydroxylase deficiency
• 21-hydroxylase deficiency
• 21q deletion - See Chromosome 21q deletion
• 21q duplication - See Chromosome 21q duplication
• 21q monosomy - See Chromosome 21q deletion
• 21q trisomy - See Chromosome 21q duplication
• 22q deletion - See Chromosome 22q deletion
• 22q monosomy - See Chromosome 22q deletion
• 22q11.2 deletion syndrome
• 22q11.2 duplication - See 22q11.2 duplication syndrome
• 22q11.2 duplication syndrome
• 22q11.2 microduplication syndrome - See 22q11.2 duplication syndrome
• 22q13 deletion - See 22q13.3 deletion syndrome
• 22q13.3 deletion syndrome
• 2-HEMA sensitization - See 2-hydroxyethyl methacrylate sensitization
• 2-hydroxyethyl methacrylate sensitization
• 2-Hydroxyglutaric aciduria
• 2M3HBA - See 2-methyl-3-hydroxybutyric aciduria
• 2-methyl-3-hydroxybutyric aciduria
• 2-methyl-3-hydroxybutyricacidemia - See Beta ketothiolase deficiency
• 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency - See 2-methyl-3-hydroxybutyric aciduria
• 2-Methylacetoacetyl CoA thiolase deficiency
• 2-methylbutyric aciduria - See 2-methylbutyryl-CoA dehydrogenase deficiency
• 2-methylbutyryl-CoA dehydrogenase deficiency
• 2p deletion - See Chromosome 2p deletion
• 2p duplication - See Chromosome 2p duplication
• 2p monosomy - See Chromosome 2p deletion
• 2p trisomy - See Chromosome 2p duplication
• 2p15p16.1 microdeletion syndrome
• 2p15-p16.1 microdeletion syndrome - See 2p15p16.1 microdeletion syndrome
• 2q deletion - See Chromosome 2q deletion
• 2q duplication - See Chromosome 2q duplication
• 2q monosomy - See Chromosome 2q deletion
• 2q trisomy - See Chromosome 2q duplication
• 2q23.1 microdeletion syndrome
• 2q24 deletion - See Chromosome 2q24 microdeletion syndrome
• 2q24 microdeletion syndrome - See Chromosome 2q24 microdeletion syndrome
• 2q32-q33 microdeletion syndrome - See SATB2-associated syndrome
• 2q32q33 microdeletion syndromes - See SATB2-associated syndrome
• 2q37 deletion syndrome
• 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency
• 3 Alpha methylcrotonylglycinuria 1 - See 3 Methylcrotonyl-CoA carboxylase 1 deficiency
• 3 alpha methylcrotonylglycinuria 2 - See 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency
• 3 alpha methylglutaconic aciduria type I - See 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
• 3 alpha methylglutaconic aciduria type IV - See Not otherwise specified 3-MGA-uria type
• 3 alpha methylglutaconic aciduria type V - See 3 methylglutaconic aciduria type V
• 3 Methylcrotonyl-CoA carboxylase 1 deficiency
• 3 Methylcrotonyl-CoA carboxylase deficiency - See 3 Methylcrotonyl-CoA carboxylase 1 deficiency
• 3 Methylcrotonylglycinuria - See 3 Methylcrotonyl-CoA carboxylase 1 deficiency
• 3 methylglutaconic aciduria type 1 - See 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
• 3 methylglutaconic aciduria type IV - See Not otherwise specified 3-MGA-uria type
• 3 methylglutaconic aciduria type V
• 3 methylglutaconyl CoA hydratase deficiency - See 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
• 3-alpha beta-hydroxy-delta-5-c27-steroid oxidoreductase, deficiency of - See Congenital bile acid synthesis defect, type 1
• 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
• 3-alpha methylglutaconic aciduria type III - See OPA3 defect
• 3-beta-HSD deficiency - See 3-beta-hydroxysteroid dehydrogenase deficiency
• 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency - See Congenital bile acid synthesis defect, type 1
• 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency - See Cholestasis, progressive familial intrahepatic 4
• 3-beta-hydroxysteroid dehydrogenase deficiency
• 3b-hydroxysteroid dehydrogenase deficiency - See 3-beta-hydroxysteroid dehydrogenase deficiency
• 3C syndrome - See Dandy-Walker like malformation with atrioventricular septal defect
• 3H2MBD deficiency - See 2-methyl-3-hydroxybutyric aciduria
• 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency - See 2-methyl-3-hydroxybutyric aciduria
• 3-hydroxy-3-methylglutaric aciduria - See HMG CoA lyase deficiency
• 3-hydroxy-3-methylglutaryl-CoA lyase deficiency - See HMG CoA lyase deficiency
• 3-hydroxyacyl-CoA dehydrogenase long chain deficiency - See LCHAD deficiency
• 3-Hydroxyisobutyric aciduria
• 3-Hydroxyisobutyryl-CoA hydrolase deficiency - See HIBCH deficiency
• 3-hydroxylacyl-CoA dehydrogenase deficiency - See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
• 3-ketothiolase deficiency - See Beta ketothiolase deficiency
• 3M syndrome
• 3-M syndrome - See 3M syndrome
• 3M1 - See 3M syndrome
• 3MC syndrome
• 3MCC - See 3-methylcrotonyl-CoA carboxylase deficiency
• 3-MCC deficiency - See 3-methylcrotonyl-CoA carboxylase deficiency
• 3-methylcrotonyl-CoA carboxylase deficiency
• 3-methylcrotonylglycinuria - See 3-methylcrotonyl-CoA carboxylase deficiency
• 3-methylglutaconic aciduria type 5 - See DCMA syndrome
• 3-methylglutaconic aciduria type II - See Barth syndrome
• 3-methylglutaconic aciduria type III - See OPA3 defect
• 3-methylglutaconic aciduria type VI - See MEGDEL syndrome
• 3-methylglutaconic aciduria, type V - See DCMA syndrome
• 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
• 3MG CoA hydratase deficiency - See 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
• 3-MGCA type I (3-MGCA-1) - See 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
• 3-MGCA type IV (3-MGCA-4) (formerly) - See TMEM70 defect
• 3-MGCA type IV (formerly) - See MEGDEL syndrome
• 3-MGCA-4 (formerly) - See MEGDEL syndrome
• 3-MSBN - See 3M syndrome
• 3-oxoacid CoA transferase deficiency - See SCOT deficiency
• 3-oxothiolase deficiency - See Beta ketothiolase deficiency
• 3p deletion - See Chromosome 3p deletion
• 3p duplication - See Chromosome 3p duplication
• 3p monosomy - See Chromosome 3p deletion
• 3p- syndrome - See Chromosome 3p- syndrome
• 3p trisomy - See Chromosome 3p duplication
• 3-phosphoglycerate dehydrogenase deficiency, neonatal form - See Neu Laxova syndrome
• 3q deletion - See Chromosome 3q deletion
• 3q monosomy - See Chromosome 3q deletion
• 3q subtelomere deletion syndrome - See 3q29 microdeletion syndrome
• 3q29 deletion - See 3q29 microdeletion syndrome
• 3q29 deletion syndrome - See 3q29 microdeletion syndrome
• 3q29 microdeletion syndrome
• 3qter deletion - See 3q29 microdeletion syndrome
• 4 alpha aminobutyrate transaminase deficiency - See Gamma aminobutyric acid transaminase deficiency
• 4 alpha hydroxy-L-proline oxidase deficiency - See Hydroxyprolinemia
• 45, X Syndrome - See Turner syndrome
• 46, XX gonadal sex reversal - See 46,XX testicular disorder of sex development
• 46, XY CGD - See Swyer syndrome
• 46, XY complete gonadal dysgenesis - See Swyer syndrome
• 46, XY disorders of sexual development
• 46, XY DSD - See 46, XY disorders of sexual development
• 46, XY female - See 46, XY disorders of sexual development
• 46, XY pure gonadal dysgenesis - See Swyer syndrome
• 46,XX gonadal dysgenesis - See 46,XX testicular disorder of sex development
• 46,XX Gonadal dysgenesis epibulbar dermoid
• 46,XX testicular disorder of sex development
• 46,XX testicular DSD - See 46,XX testicular disorder of sex development
• 46,XY disorder of sex development due to LH defects - See Leydig cell hypoplasia
• 46,XY disorder of sex development due to LH resistance or LHB deficiency - See Leydig cell hypoplasia
• 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency - See Leydig cell hypoplasia
• 46,XY DSD due to LH resistance or LHB deficiency - See Leydig cell hypoplasia
• 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency - See Leydig cell hypoplasia
• 47 XXX syndrome
• 47 XXY - See 47, XXY - not a rare disease
• 47, XXY - not a rare disease
• 47, XYY syndrome
• 47,XXY syndrome - See Klinefelter syndrome - not a rare disease
• 47,XYY syndrome - See 47, XYY syndrome
• 48 XXXX - See Tetrasomy X
• 48 XXXX syndrome - See Tetrasomy X
• 48,XXXX syndrome - See Tetrasomy X
• 48,XXXY syndrome
• 48,XXYY Klinefelter syndrome - See 48,XXYY syndrome
• 48,XXYY syndrome
• 48,XXYY variant of Klinefelter's syndrome - See 48,XXYY syndrome
• 48,XYYY
• 49, XXXYY syndrome
• 49,XXXXX syndrome
• 49,XXXXY - See 49,XXXXY syndrome
• 49,XXXXY syndrome
• 4-alpha hydroxyphenylpyruvate dioxygenase deficiency - See Tyrosinemia type 3
• 4-alpha hydroxyphenylpyruvic acid oxidase deficiency - See Tyrosinemia type 3
• 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency - See Hawkinsinuria
• 4H syndrome - See POLR3-Related Leukodystrophy
• 4-hydroxybutyric aciduria - See Succinic semialdehyde dehydrogenase deficiency
• 4-hydroxy-L-proline oxidase deficiency - See Hydroxyprolinemia
• 4-hydroxyphenylacetic aciduria
• 4-hydroxyphenylpyruvate dioxygenase deficiency - See Tyrosinemia type 3
• 4p deletion - See Chromosome 4p deletion
• 4p duplication - See Chromosome 4p duplication
• 4p monosomy - See Chromosome 4p deletion
• 4p syndrome - See Wolf-Hirschhorn syndrome
• 4p- syndrome - See Wolf-Hirschhorn syndrome
• 4p trisomy - See Chromosome 4p duplication
• 4q deletion - See Chromosome 4q deletion
• 4q duplication - See Chromosome 4q duplication
• 4q monosomy - See Chromosome 4q deletion
• 4q trisomy - See Chromosome 4q duplication
• 5,10 alpha methylenetetrahydro-folate reductase deficiency - See Homocystinuria due to MTHFR deficiency
• 5,10-alpha-methylenetetrahydro-folate reductase deficiency - See Homocystinuria due to MTHFR deficiency
• 5-alpha reductase deficiency
• 5-alpha-oxoprolinase deficiency - See 5-oxoprolinase deficiency
• 5-Aminolevulinic acid dehydratase deficiency porphyria - See Aminolevulinate dehydratase deficiency porphyria
• 5'NT syndrome - See 5-Nucleotidase syndrome
• 5-Nucleotidase syndrome
• 5-oxoprolinase deficiency
• 5-Oxoprolinuria - See Glutathione synthetase deficiency
• 5p deletion - See Chromosome 5p deletion
• 5p deletion syndrome - See Cri du chat syndrome
• 5p duplication - See Chromosome 5p duplication
• 5p minus syndrome - See Cri du chat syndrome
• 5p monosomy - See Chromosome 5p deletion
• 5p- syndrome - See Cri du chat syndrome
• 5p trisomy - See Chromosome 5p duplication
• 5q deletion - See Chromosome 5q deletion
• 5q deletion syndrome - See 5q- syndrome
• 5q minus syndrome - See 5q- syndrome
• 5q monosomy - See Chromosome 5q deletion
• 5q syndrome - See 5q- syndrome
• 5q- syndrome
• 5q14.3 deletion syndrome - See 5q14.3 microdeletion syndrome
• 5q14.3 microdeletion syndrome
• 6-mercaptopurine sensitivity - See Thiopurine S methyltranferase deficiency
• 6p deletion - See Chromosome 6p deletion
• 6p duplication - See Chromosome 6p duplication
• 6p monosomy - See Chromosome 6p deletion
• 6p trisomy - See Chromosome 6p duplication
• 6-pyruvoyl-tetrahydropterin synthase deficiency
• 6q deletion - See Chromosome 6q deletion
• 6q duplication - See Chromosome 6q duplication
• 6q monosomy - See Chromosome 6q deletion
• 6q trisomy - See Chromosome 6q duplication
• 6q25 microdeletion syndrome - See Chromosome 6q25 microdeletion syndrome
• 6th nerve palsy - See Sixth nerve palsy
• 7-Dehydrocholesterol reductase deficiency - See Smith-Lemli-Opitz syndrome
• 7p deletion - See Chromosome 7p deletion
• 7p duplication - See Chromosome 7p duplication
• 7p monosomy - See Chromosome 7p deletion
• 7p trisomy - See Chromosome 7p duplication
• 7q deletion - See Chromosome 7q deletion
• 7q duplication - See Chromosome 7q duplication
• 7q monosomy - See Chromosome 7q deletion
• 7q trisomy - See Chromosome 7q duplication
• 7q11.23 duplication syndrome
• 7q11.23 microduplication syndrome - See 7q11.23 duplication syndrome
• 8p deletion - See Chromosome 8p deletion
• 8p duplication - See Chromosome 8p duplication
• 8p inverted duplication and deletion - See 8p inverted duplication/deletion syndrome
• 8p inverted duplication/deletion syndrome
• 8p monosomy - See Chromosome 8p deletion
• 8p trisomy - See Chromosome 8p duplication
• 8p23.1 deletion - See Chromosome 8p23.1 deletion
• 8p23.1 duplication syndrome
• 8p23.1 microdeletion syndrome - See Chromosome 8p23.1 deletion
• 8q deletion - See Chromosome 8q deletion
• 8q duplication - See Chromosome 8q duplication
• 8q monosomy - See Chromosome 8q deletion
• 8q trisomy - See Chromosome 8q duplication
• 8q12 microduplication syndrome
• 8q22.1 microdeletion syndrome - See Nablus mask-like facial syndrome
• 9p deletion - See Chromosome 9p deletion
• 9p duplication - See Chromosome 9p duplication
• 9p monosomy - See Chromosome 9p deletion
• 9p trisomy - See Chromosome 9p duplication
• 9q deletion - See Chromosome 9q deletion
• 9q duplication - See Chromosome 9q duplication
• 9q monosomy - See Chromosome 9q deletion
• 9q- syndrome - See Kleefstra syndrome
• 9q trisomy - See Chromosome 9q duplication
• 9q34.3 microdeletion syndrome - See Kleefstra syndrome