Table 4: List of Rare Diseases and Related Terms as per US ...

6293 17q21.31 microdeletion syndrome
6294 17q23.1q23.2 microdeletion syndrome
6295 18 Hydroxylase deficiency
6296 19p13.12 microdeletion syndrome
6297 1q21.1 microdeletion syndrome
6298 1q44 microdeletion syndrome
6299 2,4-Dienoyl-CoA reductase deficiency
6300 21-hydroxylase deficiency
6301 22q11.2 deletion syndrome
6302 22q11.2 duplication syndrome
6303 22q13.3 deletion syndrome
6304 2-hydroxyethyl methacrylate sensitization
6305 2-Hydroxyglutaric aciduria
6306 2-methyl-3-hydroxybutyric aciduria
6307 2-Methylacetoacetyl CoA thiolase deficiency
6308 2-methylbutyryl-CoA dehydrogenase deficiency
6309 2q23.1 microdeletion syndrome
6310 2q37 deletion syndrome
6311 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency
6312 3 Methylcrotonyl-CoA carboxylase 1 deficiency
6313 3 methylglutaconic aciduria type I
6314 3 methylglutaconic aciduria type IV
6315 3 methylglutaconic aciduria type V
6316 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
6317 3-beta-hydroxysteroid dehydrogenase deficiency
6318 3-Hydroxyisobutyric aciduria
6319 3M syndrome
6320 3-methylcrotonyl-CoA carboxylase deficiency
6321 3-methylglutaconic aciduria type III
6322 3p deletion syndrome
6323 46, XY disorders of sexual development
6324 46,XX Gonadal dysgenesis epibulbar dermoid
6325 46,XX testicular disorder of sex development
6326 47 XXX syndrome
6327 47, XYY syndrome
6328 48,XXXY syndrome
6329 48,XXYY syndrome
6330 49,XXXXX syndrome
6331 49,XXXXY syndrome
6332 49,XXXYY syndrome