Gene Dossiers

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Gene dossier Disorders Genes
Acromicric Dysplasia

London South West RGC St Georges - 2012

  • Acromicric Dysplasia
  • fibrillin 1
    • fibrillin
    • fibrillin 1 (marfan syndrome)
Acromicric Dysplasia and Geleophysic Dysplasia

London South West RGC St Georges - 2012

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
Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency Of

Sheffield 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
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency

London UCLH Biochemistry - 2011

  • Adrenal Hyperplasia, Congenital, due to 17-Alpha-Hydroxylase Deficiency
    • 17-Alpha-Hydroxylase Deficiency
    • Adrenal Hyperplasia V
  • cytochrome P450, family 17, subfamily A, member 1
    • cytochrome P450 family 17 subfamily A polypeptide 1
    • cytochrome p450, subfamily XVII
    • steroid 17-alpha-monooxygenase
    • steroid 17-hydroxylase/17,20-lyase
Adrenal Hyperplasia, Congenital, due to 21 Hydroxylase Deficiency; CAH (NIPD - Diagnostic Linked Haplotype Testing)

London North East RGC GOSH - 2015

  • Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
    • 21-@hydroxylase B, Included
    • 21-@hydroxylase Deficiency
    • Adrenal Hyperplasia III
    • Ca21h, Included
    • Congenital Adrenal Hyperplasia 1
    • Cyp21 Deficiency
    • Cyp21a1p, Included
    • Cyp21p, Included
    • Cytochrome P450, Subfamily XXI, Included
    • Cytochrome P450, Subfamily XXIa, Polypeptide 1 Pseudogene, Included
    • Cytochrome P450, Subfamily XXIa, Polypeptide 2, Included
    • Hyperandrogenism, Nonclassic Type, Due To 21-Hydroxylase Deficiency, Included
    • Steroid Cytochrome P450 21-Hydroxylase, Included
  • cytochrome P450, family 21, subfamily A, member 2
    • 21-hydroxylase B
    • 21-hydroxylase deficiency
    • CYP21 deficiency
    • cytochrome P450, family 21, subfamily A, polypeptide 2
    • cytochrome P450, subfamily XXI
    • cytochrome P450, subfamily XXIA, polypeptide 2
    • steroid cytochrome P450 21-hydroxylase
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency (NIPD)

Birmingham RGC - 2011

  • Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
    • 21-@hydroxylase B, Included
    • 21-@hydroxylase Deficiency
    • Adrenal Hyperplasia III
    • Ca21h, Included
    • Congenital Adrenal Hyperplasia 1
    • Cyp21 Deficiency
    • Cyp21a1p, Included
    • Cyp21p, Included
    • Cytochrome P450, Subfamily XXI, Included
    • Cytochrome P450, Subfamily XXIa, Polypeptide 1 Pseudogene, Included
    • Cytochrome P450, Subfamily XXIa, Polypeptide 2, Included
    • Hyperandrogenism, Nonclassic Type, Due To 21-Hydroxylase Deficiency, Included
    • Steroid Cytochrome P450 21-Hydroxylase, Included
  • cytochrome P450, family 21, subfamily A, member 2
    • 21-hydroxylase B
    • 21-hydroxylase deficiency
    • CYP21 deficiency
    • cytochrome P450, family 21, subfamily A, polypeptide 2
    • cytochrome P450, subfamily XXI
    • cytochrome P450, subfamily XXIA, polypeptide 2
    • steroid cytochrome P450 21-hydroxylase
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency (NIPD)

London North East RGC GOSH - 2011

  • Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
    • 21-@hydroxylase B, Included
    • 21-@hydroxylase Deficiency
    • Adrenal Hyperplasia III
    • Ca21h, Included
    • Congenital Adrenal Hyperplasia 1
    • Cyp21 Deficiency
    • Cyp21a1p, Included
    • Cyp21p, Included
    • Cytochrome P450, Subfamily XXI, Included
    • Cytochrome P450, Subfamily XXIa, Polypeptide 1 Pseudogene, Included
    • Cytochrome P450, Subfamily XXIa, Polypeptide 2, Included
    • Hyperandrogenism, Nonclassic Type, Due To 21-Hydroxylase Deficiency, Included
    • Steroid Cytochrome P450 21-Hydroxylase, Included
  • cytochrome P450, family 21, subfamily A, member 2
    • 21-hydroxylase B
    • 21-hydroxylase deficiency
    • CYP21 deficiency
    • cytochrome P450, family 21, subfamily A, polypeptide 2
    • cytochrome P450, subfamily XXI
    • cytochrome P450, subfamily XXIA, polypeptide 2
    • steroid cytochrome P450 21-hydroxylase
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency (NIPD)

Manchester RGC - 2011

  • Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
    • 21-@hydroxylase B, Included
    • 21-@hydroxylase Deficiency
    • Adrenal Hyperplasia III
    • Ca21h, Included
    • Congenital Adrenal Hyperplasia 1
    • Cyp21 Deficiency
    • Cyp21a1p, Included
    • Cyp21p, Included
    • Cytochrome P450, Subfamily XXI, Included
    • Cytochrome P450, Subfamily XXIa, Polypeptide 1 Pseudogene, Included
    • Cytochrome P450, Subfamily XXIa, Polypeptide 2, Included
    • Hyperandrogenism, Nonclassic Type, Due To 21-Hydroxylase Deficiency, Included
    • Steroid Cytochrome P450 21-Hydroxylase, Included
  • cytochrome P450, family 21, subfamily A, member 2
    • 21-hydroxylase B
    • 21-hydroxylase deficiency
    • CYP21 deficiency
    • cytochrome P450, family 21, subfamily A, polypeptide 2
    • cytochrome P450, subfamily XXI
    • cytochrome P450, subfamily XXIA, polypeptide 2
    • steroid cytochrome P450 21-hydroxylase
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency

London UCLH Biochemistry - 2008

  • Adrenal Hyperplasia, Congenital, due to Steroid 11-Beta-Hydroxylase Deficiency
    • 11-Beta-Hydroxylase Deficiency
    • Adrenal Hyperplasia IV
    • Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
    • Adrenal Hyperplasia, Hypertensive Form
    • P450c11b1 Deficiency
    • Steroid 11-Beta-Hydroxylase Deficiency
  • cytochrome P450, family 11, subfamily B, member 1
    • 11-@beta-hydroxylase deficiency
    • 18-@hydroxysteroid dehydrogenase deficiency, included
    • adrenal hyperplasia IV
    • adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
    • cytochrome P450, family 11, subfamily B, polypeptide 1
    • cytochrome p450, subfamily XIb, polypeptide 1, included
    • hypertensive form of adrenal hyperplasia
    • p450C11B1 deficiency
    • steroid 11-beta-hydroxylase

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