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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Diseases Beginning With 0-9

The purpose of the Rare Diseases and Related Terms list is to distribute information; although the list is updated regularly, it should not be used as a reference or guarantee that a condition is rare. The prevalence of a rare disease is usually an estimate and may change over time. A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.
Is Rare Condition? Disease Name
* 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
* 11-alpha beta-hydroxylase deficiency - See 11-beta-hydroxylase deficiency
* 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
* 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
* 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 microdeletion - See Microdeletion 15q11.2
* 15q13.3 microdeletion - See 15q13.3 microdeletion syndrome
* 15q13.3 microdeletion syndrome
* 15q13.3 microduplication - See 15q13.3 microduplication syndrome
* 15q13.3 microduplication syndrome
* 15q25.2 deletion syndrome - See Chromosome 15q25.2 deletion
* 15q25.2 microdeletion - See Chromosome 15q25.2 deletion
* 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
* 16p13.3 deletion syndrome - See Chromosome 16p13.3 deletion syndrome
* 16p13.3 duplication - 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
* 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
* 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 syndrome
* 18p deletion syndrome - See Chromosome 18p deletion syndrome
* 18p duplication - See Chromosome 18p duplication
* 18p minus syndrome - See Chromosome 18p deletion syndrome
* 18p- syndrome - See Chromosome 18p deletion syndrome
* 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 duplication - See Chromosome 1q duplication
* 1q monosomy - See Chromosome 1q deletion
* 1q trisomy - See Chromosome 1q duplication
* 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
* 20p deletion - See Chromosome 20p deletion
* 20p duplication - See Chromosome 20p duplication
* 20p monosomy - See Chromosome 20p deletion
* 20p trisomy - See Chromosome 20p duplication
* 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
* 22q13.3 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
* 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
* 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 methylglutaconic aciduria type I
* 3 alpha methylglutaconic aciduria type IV - See 3 methylglutaconic aciduria type IV
* 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 I
* 3 methylglutaconic aciduria type IV
* 3 methylglutaconic aciduria type V
* 3 methylglutaconyl CoA hydratase deficiency - See 3 methylglutaconic aciduria type I
* 3-alpha beta-hydroxy-delta-5-c27-steroid oxidoreductase, deficiency of - See Bile acid synthesis defect, congenital, 1
* 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
* 3-alpha methylglutaconic aciduria type III - See 3-methylglutaconic aciduria type III
* 3-beta-HSD deficiency - See 3-beta-hydroxysteroid dehydrogenase deficiency
* 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-hydroxylacyl-CoA dehydrogenase deficiency - See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
* 3-ketothiolase deficiency - See Beta ketothiolase deficiency
* 3M syndrome
* 3M1 - See 3M 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 II - See Barth syndrome
* 3-methylglutaconic aciduria type III
* 3MG CoA hydratase deficiency - See 3 methylglutaconic aciduria type I
* 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 deletion syndrome
* 3p duplication - See Chromosome 3p duplication
* 3p monosomy - See Chromosome 3p deletion
* 3p- syndrome - See 3p deletion syndrome
* 3p trisomy - See Chromosome 3p duplication
* 3q deletion - See Chromosome 3q deletion
* 3q monosomy - See Chromosome 3q deletion
* 3q subtelomere deletion syndrome - See 3q29 deletion syndrome
* 3q29 deletion syndrome
* 3q29 microdeletion syndrome - See 3q29 deletion 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
* 47 XXX syndrome
*   47 XXY - See 47, XXY
*   47, XXY
* 47, XYY syndrome
* 48 XXXX - 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,XXXXX syndrome
* 49,XXXXY - See 49,XXXXY syndrome
* 49,XXXXY syndrome
* 49,XXXYY 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
* 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 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 Homocysteinemia due to MTHFR deficiency
* 5,10-alpha-methylenetetrahydro-folate reductase deficiency - See Homocysteinemia 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 duplication - See Chromosome 5q duplication
* 5q minus syndrome - See 5q- syndrome
* 5q monosomy - See Chromosome 5q deletion
* 5q syndrome - See 5q- syndrome
* 5q- syndrome
* 5q trisomy - See Chromosome 5q duplication
* 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 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
* 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