17-@beta Hydroxysteroid Dehydrogenase III Deficiency
Cambridge RGC - 2010 | - 17-Beta Hydroxysteroid Dehydrogenase III Deficiency
- 17-Ketosteroid Reductase Deficiency Of Testis
- 17-KSR Deficiency
- Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency
- Pseudohermaphroditism, Male, With Gynecomastia
| - hydroxysteroid 17-beta dehydrogenase 3
- hydroxysteroid (17-beta) dehydrogenase 3
- short chain dehydrogenase/reductase family 12c, member 2
|
3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency Of
London UCLH Biochemistry - 2013 | - Adrenal Hyperplasia, Congenital, due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
- 3-Beta-HSD Deficiency
- 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
- 3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency Of
- Adrenal Hyperplasia II
| - hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
- 3-beta-HSD, adrenal and gonadal type
- 3-beta-hydroxysteroid dehydrogenase 2
- 3-beta-hydroxysteroid dehydrogenase/delta-isomerase, type II
|
46,XY Sex Reversal 3
Cambridge RGC - 2012 | - 46,XY Sex Reversal 3
- 46,XY Gonadal Dysgenesis, Complete Or Partial, With Or Without Adrenal Failure
- 46,XY Sex Reversal, Partial or Complete, NR5A1-Related 4
- Sex Reversal, XY, With Or Without Adrenal Failure Disorder Of Sex Development, 46,XY
| - nuclear receptor subfamily 5, group A, member 1
|
Aarskog-Scott Syndrome
Exeter RGC - 2012 | - Aarskog-Scott Syndrome
- Aarskog Syndrome, X-Linked
- Faciodigitogenital Syndrome
- Faciogenital Dysplasia
| - FYVE, RhoGEF and PH domain containing 1
- faciogenital dysplasia (aarskog-scott syndrome)
|
Achondrogenesis, Type II
London South East RGC GSTT - 2010 | - Achondrogenesis, Type II
- Achondrogenesis, Langer-Saldino Type
- Achondrogenesis, Type 2
- Achondrogenesis, Type Ib, Formerly
- Chondrogenesis Imperfecta
| - collagen, type II, alpha 1 chain
- AOM
- chondrocalcin, included
- collagen of cartilage
- collagen, type II
- collagen, type II, alpha 1
- collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) SEDC
- vitreoretinopathy with phalangeal epiphyseal dysplasia, included
|
Acrodysostosis-1, with or without Hormone Resistance
Exeter RGC - 2013 | - Acrodysostosis-1, with or without Hormone Resistance
- Acrodysostosis-2, with or without Hormone Resistance
| - phosphodiesterase 4D
- dunce-like phosphodiesterase e3, formerly
- phosphodiesterase 4D, cAMP-specific
- phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3
- protein kinase cAMP-dependent type I regulatory subunit alpha
- protein kinase cAMP-dependent, regulatory, type I, alpha
- protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
- tissue-specific extinguisher 1
|
Acrodysostosis-2, with or without Hormone Resistance
Exeter RGC - 2013 | - Acrodysostosis-1, with or without Hormone Resistance
- Acrodysostosis-2, with or without Hormone Resistance
| - phosphodiesterase 4D
- dunce-like phosphodiesterase e3, formerly
- phosphodiesterase 4D, cAMP-specific
- phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3
- protein kinase cAMP-dependent type I regulatory subunit alpha
- protein kinase cAMP-dependent, regulatory, type I, alpha
- protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
- tissue-specific extinguisher 1
|
Acrogigantism (X-Linked)
Exeter RGC - 2016 | - Chromosome Xq26.3 Duplication Syndrome
- Acrogigantism X-Linked
- Chromosome Xq26 Microduplication Syndrome
- X-Linked Acrogigantism
| - G protein-coupled receptor 101
|
Acromicric Dysplasia and Geleophysic Dysplasia
London South West RGC St Georges - 2012 | - Acromicric Dysplasia
- Geleophysic Dysplasia 2
| - fibrillin 1
- fibrillin
- fibrillin 1 (marfan syndrome)
|
Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency Of
Dundee RGC - 2008 | - Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency Of
- ACADM Deficiency
- Carnitine Deficiency Secondary To Medium-Chain Acyl-CoA Dehydrogenase Deficiency
- MCAD Deficiency
- MCADH Deficiency
| - acyl-CoA dehydrogenase, C-4 to C-12 straight chain
- acyl-coa dehydrogenase, medium-chain
- acyl-coenzyme a dehydrogenase, c-4 to c-12 straight chain
- medium-chain acyl-coa dehydrogenase
|
