Testing Criteria

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Testing criteria Disorders Genes Date
17-@beta Hydroxysteroid Dehydrogenase III Deficiency
  • 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
    • short chain dehydrogenase/reductase family 12c, member 2
2010
3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency Of
  • 3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency Of
    • 3-Beta-HSD Deficiency
    • 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
    • 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
2013
46,XY Sex Reversal 3
  • 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
2012
Aarskog-Scott Syndrome
  • Aarskog-Scott Syndrome
    • Aarskog Syndrome, X-Linked
    • Faciodigitogenital Syndrome
    • Faciogenital Dysplasia
  • FYVE, RhoGEF and PH domain containing 1
    • faciogenital dysplasia (aarskog-scott syndrome)
2012
Achondrogenesis, Type II
  • Achondrogenesis, Type II
    • Achondrogenesis, Langer-Saldino Type
    • Achondrogenesis, Type 2
    • Achondrogenesis, Type Ib, Formerly
    • Chondrogenesis Imperfecta
  • collagen, type II, alpha 1
    • AOM
    • chondrocalcin, included
    • collagen of cartilage
    • collagen, type II
    • collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) SEDC
    • vitreoretinopathy with phalangeal epiphyseal dysplasia, included
2010
Achondroplasia
  • Achondroplasia
  • fibroblast growth factor receptor 3
    • achondroplasia, thanatophoric dwarfism
2010
Acrodysostosis-1, with or without Hormone Resistance
  • Acrodysostosis-1, with or without Hormone Resistance
  • Acrodysostosis-2, with or without Hormone Resistance
  • phosphodiesterase 4D, cAMP-specific
    • dunce-like phosphodiesterase e3, formerly
    • phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3
  • protein kinase cAMP-dependent, regulatory, type I, alpha
    • protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
    • tissue-specific extinguisher 1
2013
Acrodysostosis-2, with or without Hormone Resistance
  • Acrodysostosis-1, with or without Hormone Resistance
  • Acrodysostosis-2, with or without Hormone Resistance
  • phosphodiesterase 4D, cAMP-specific
    • dunce-like phosphodiesterase e3, formerly
    • phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3
  • protein kinase cAMP-dependent, regulatory, type I, alpha
    • protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
    • tissue-specific extinguisher 1
2013
Acrogigantism (X-Linked)
  • Chromosome Xq26.3 Duplication Syndrome
    • Acrogigantism X-Linked
    • Chromosome Xq26 Microduplication Syndrome
    • X-Linked Acrogigantism
  • G protein-coupled receptor 101
    • 0
2016
Acromicric Dysplasia and Geleophysic Dysplasia
  • Acromicric Dysplasia
  • Geleophysic Dysplasia 2
  • fibrillin 1
    • fibrillin
    • fibrillin 1 (marfan syndrome)
2012

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