Diseases

Name Orphanumber Description XREF(s)
3-methylcrotonyl-CoA carboxylase deficiency 6 A rare inherited disorder of leucine… Orphanet, OMIM, OMIM, MeSH, ICD-10
3-methylglutaconic aciduria type 1 67046 3-methylglutaconic aciduria (3-MGA)… Orphanet, OMIM, ICD-10
3-methylglutaconic aciduria type 3 67047 3-methylglutaconic aciduria type III (… Orphanet, MeSH, ICD-10, OMIM
3-methylglutaconic aciduria type 9 505216 A rare organic aciduria characterized… Orphanet, OMIM, ICD-10
3-methylglutaconic aciduria type 8 505208 A rare organic aciduria characterized… Orphanet
3-methylglutaconic aciduria type 7 445038 A rare organic aciduria characterized… Orphanet, ICD-10, OMIM
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form 79351 3-Phosphoglycerate dehydrogenase… Orphanet, OMIM, ICD-10
3-phosphoserine phosphatase deficiency, infantile/juvenile form 79350 3-Phosphoserine phosphatase deficiency… Orphanet, OMIM, ICD-10
45,X/46,XY mixed gonadal dysgenesis 1772 45,X/46,XY mixed gonadal dysgenesis (45… Orphanet
46,XY complete gonadal dysgenesis 242 A rare disorder of sex development (DSD… Orphanet, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, ICD-10
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 753 A rare disorder of sex development (DSD… Orphanet, OMIM, MedDRA, ICD-10
46,XY disorder of sex development due to isolated 17,20-lyase deficiency 90796 46,XY disorder of sex development due… Orphanet, OMIM, ICD-10
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 752 17-beta-hydroxysteroid dehydrogenase… Orphanet, ICD-10, OMIM
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 443087 Orphanet, OMIM, ICD-10
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 168558 46,XY disorder of sex development-… Orphanet, ICD-10, OMIM
46,XX gonadal dysgenesis 243 46,XX gonadal dysgenesis (46,XX GD) is… Orphanet, OMIM, MeSH, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 168563 46,XY gonadal dysgenesis-motor and… Orphanet, ICD-10, OMIM
46,XX ovarian dysgenesis-short stature syndrome 444048 A rare, genetic disorder of sex… Orphanet, ICD-10, OMIM
46,XX ovotesticular disorder of sex development 2138 A rare disorder of sex development (DSD… Orphanet, MeSH, ICD-10, OMIM
46,XY partial gonadal dysgenesis 251510 46,XY partial gonadal dysgenesis (46,XY… Orphanet, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
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