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 |