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Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Inborn_errors_of_steroid_metabolism> ?p ?o }

• Inborn_errors_of_steroid_metabolism abstract "An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism.A variety of conditions of abnormal steroidogenesis exist due to genetic mutations in the enzymes involved in the process, of which include: 18,20-Desmolase (P450scc) deficiency: blocks production of all steroid hormones from cholesterol 3β-Hydroxysteroid dehydrogenase type 2 deficiency: impairs progestogen and androgen metabolism; prevents the synthesis of estrogens, glucocorticoids, and mineralocorticoids; causes androgen deficiency in males and androgen excess in females Combined 17α-hydroxylase/17,20-lyase deficiency: impairs progestogen metabolism; prevents androgen, estrogen, and glucocorticoid synthesis; causes mineralocorticoid excess Isolated 17,20-lyase deficiency: prevents androgen and estrogen synthesis 21-Hydroxylase deficiency: prevents glucocorticoid and mineralocorticoid synthesis; causes androgen excess in females 11β-Hydroxylase type 1 deficiency: impairs glucocorticoid and mineralocorticoid metabolism; causes glucocorticoid deficiency and mineralocorticoid excess as well as androgen excess in females 11β-Hydroxylase type 2 deficiency: impairs corticosteroid metabolism; results in excessive mineralocorticoid activity 18-Hydroxylase deficiency: impairs mineralocorticoid metabolism; results in mineralocorticoid deficiency 18-Hydroxylase overactivity: impairs mineralocorticoid metabolism; results in mineralocorticoid excess 17β-Hydroxysteroid dehydrogenase deficiency: impairs androgen and estrogen metabolism; results in androgen deficiency in males and androgen excess and estrogen deficiency in females 5α-Reductase type 2 deficiency: prevents the conversion of testosterone to dihydrotestosterone; causes androgen deficiency in males Aromatase deficiency: prevents estrogen synthesis; causes androgen excess in females Aromatase excess: causes excessive conversion of androgens to estrogens; results in estrogen excess in both sexes and androgen deficiency in malesIn addition, several conditions of abnormal steroidogenesis due to genetic mutations in receptors, as opposed to enzymes, also exist, including: Gonadotropin-releasing hormone (GnRH) insensitivity: prevents synthesis of sex steroids by the gonads in both sexes Follicle-stimulating (FSH) hormone insensitivity: prevents synthesis of sex steroids by the gonads in females; merely causes problems with fertility in males Luteinizing hormone (LH) insensitivity: prevents synthesis of sex steroids by the gonads in males; merely causes problems with fertility in females Luteinizing hormone (LH) oversensitivity: causes androgen excess in males, resulting in precocious puberty; females are asymptomaticNo activating mutations of the GnRH receptor in humans have been described in the medical literature, and only one of the FSH receptor has been described, which presented as asymptomatic.".
• Inborn_errors_of_steroid_metabolism thumbnail Steroidogenesis.svg?width=300.
• Inborn_errors_of_steroid_metabolism wikiPageExternalLink pmidlookup?view=long&pmid=21051590.
• Inborn_errors_of_steroid_metabolism wikiPageID "35934978".
• Inborn_errors_of_steroid_metabolism wikiPageLength "6700".
• Inborn_errors_of_steroid_metabolism wikiPageOutDegree "73".
• Inborn_errors_of_steroid_metabolism wikiPageRevisionID "621071275".
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink 17-beta-hydroxysteroid_dehydrogenase_deficiency.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink 18-Hydroxylase_deficiency.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink 5-alpha-reductase_deficiency.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Adrenal_cortex.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Adrenal_insufficiency.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Androgen.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Androgen_deficiency.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Apparent_mineralocorticoid_excess_syndrome.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Aromatase_deficiency.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Aromatase_excess_syndrome.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Category:Adrenal_gland_disorders.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Category:Cholesterol_and_steroid_metabolism_disorders.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Category:Endocrine_gonad_disorders.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Category:Genetic_disorders.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Category:Intersex_and_medicine.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Category:Rare_diseases.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Cholesterol.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Congenital_adrenal_hyperplasia.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Congenital_adrenal_hyperplasia_due_to_11β-hydroxylase_deficiency.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Congenital_adrenal_hyperplasia_due_to_17_alpha-hydroxylase_deficiency.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Corticosteroid.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Delayed_puberty.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Dihydrotestosterone.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Disease.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Disorders_of_sex_development.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Enzyme.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Estrogen.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Familial_male-limited_precocious_puberty.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink File:Steroidogenesis.svg.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Follicle-stimulating_hormone_insensitivity.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Glucocorticoid.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Glucocorticoid_remediable_aldosteronism.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Gonad.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Gonadotropin-releasing_hormone_insensitivity.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Hyperandrogenism.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Hyperestrogenism.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Hypergonadism.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Hypoestrogenism.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Hypogonadism.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Hypothalamic–pituitary–adrenal_axis.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Hypothalamic–pituitary–gonadal_axis.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Hypothalamus.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Inborn_error_of_metabolism.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Intersex.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Isolated_17,20-lyase_deficiency.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Leydig_cell_hypoplasia.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Lipoid_congenital_adrenal_hyperplasia.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Medical_literature.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Mineralocorticoid.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Mutation.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Neuroactive_steroid.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Ovary.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Pituitary_gland.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Precocious_puberty.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Progestogen.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Pseudohermaphroditism.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Receptor_(biochemistry).
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Sex_steroid.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Steroid.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Steroid_hormone.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Testicle.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLink Testosterone.
• Inborn_errors_of_steroid_metabolism wikiPageWikiLinkText "Disorders of steroid metabolism".
• Inborn_errors_of_steroid_metabolism wikiPageWikiLinkText "Inborn errors of steroid metabolism".
• Inborn_errors_of_steroid_metabolism wikiPageWikiLinkText "Inborn errors of steroid metabolism".
• Inborn_errors_of_steroid_metabolism meshid "D043202".
• Inborn_errors_of_steroid_metabolism name "Inborn error of steroid metabolism".
• Inborn_errors_of_steroid_metabolism wikiPageUsesTemplate Template:Cite_journal.
• Inborn_errors_of_steroid_metabolism wikiPageUsesTemplate Template:Defects_of_cholesterol_and_steroid_metabolism.
• Inborn_errors_of_steroid_metabolism wikiPageUsesTemplate Template:Endocrine_pathology.
• Inborn_errors_of_steroid_metabolism wikiPageUsesTemplate Template:Infobox_Disease.
• Inborn_errors_of_steroid_metabolism wikiPageUsesTemplate Template:Reflist.
• Inborn_errors_of_steroid_metabolism subject Category:Adrenal_gland_disorders.
• Inborn_errors_of_steroid_metabolism subject Category:Cholesterol_and_steroid_metabolism_disorders.
• Inborn_errors_of_steroid_metabolism subject Category:Endocrine_gonad_disorders.
• Inborn_errors_of_steroid_metabolism subject Category:Genetic_disorders.
• Inborn_errors_of_steroid_metabolism subject Category:Intersex_and_medicine.
• Inborn_errors_of_steroid_metabolism subject Category:Rare_diseases.
• Inborn_errors_of_steroid_metabolism hypernym Error.
• Inborn_errors_of_steroid_metabolism type Disease.
• Inborn_errors_of_steroid_metabolism type Disorder.
• Inborn_errors_of_steroid_metabolism type Error.
• Inborn_errors_of_steroid_metabolism comment "An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism.A variety of conditions of abnormal steroidogenesis exist due to genetic mutations in the enzymes involved in the process, of which include: 18,20-Desmolase (P450scc) deficiency: blocks production of all steroid hormones from cholesterol 3β-Hydroxysteroid dehydrogenase type 2 deficiency: impairs progestogen and androgen metabolism; prevents the synthesis of estrogens, glucocorticoids, and mineralocorticoids; causes androgen deficiency in males and androgen excess in females Combined 17α-hydroxylase/17,20-lyase deficiency: impairs progestogen metabolism; prevents androgen, estrogen, and glucocorticoid synthesis; causes mineralocorticoid excess Isolated 17,20-lyase deficiency: prevents androgen and estrogen synthesis 21-Hydroxylase deficiency: prevents glucocorticoid and mineralocorticoid synthesis; causes androgen excess in females 11β-Hydroxylase type 1 deficiency: impairs glucocorticoid and mineralocorticoid metabolism; causes glucocorticoid deficiency and mineralocorticoid excess as well as androgen excess in females 11β-Hydroxylase type 2 deficiency: impairs corticosteroid metabolism; results in excessive mineralocorticoid activity 18-Hydroxylase deficiency: impairs mineralocorticoid metabolism; results in mineralocorticoid deficiency 18-Hydroxylase overactivity: impairs mineralocorticoid metabolism; results in mineralocorticoid excess 17β-Hydroxysteroid dehydrogenase deficiency: impairs androgen and estrogen metabolism; results in androgen deficiency in males and androgen excess and estrogen deficiency in females 5α-Reductase type 2 deficiency: prevents the conversion of testosterone to dihydrotestosterone; causes androgen deficiency in males Aromatase deficiency: prevents estrogen synthesis; causes androgen excess in females Aromatase excess: causes excessive conversion of androgens to estrogens; results in estrogen excess in both sexes and androgen deficiency in malesIn addition, several conditions of abnormal steroidogenesis due to genetic mutations in receptors, as opposed to enzymes, also exist, including: Gonadotropin-releasing hormone (GnRH) insensitivity: prevents synthesis of sex steroids by the gonads in both sexes Follicle-stimulating (FSH) hormone insensitivity: prevents synthesis of sex steroids by the gonads in females; merely causes problems with fertility in males Luteinizing hormone (LH) insensitivity: prevents synthesis of sex steroids by the gonads in males; merely causes problems with fertility in females Luteinizing hormone (LH) oversensitivity: causes androgen excess in males, resulting in precocious puberty; females are asymptomaticNo activating mutations of the GnRH receptor in humans have been described in the medical literature, and only one of the FSH receptor has been described, which presented as asymptomatic.".
• Inborn_errors_of_steroid_metabolism label "Inborn errors of steroid metabolism".
• Inborn_errors_of_steroid_metabolism sameAs Q15051314.
• Inborn_errors_of_steroid_metabolism sameAs m.0jwsjfc.
• Inborn_errors_of_steroid_metabolism sameAs Q15051314.
• Inborn_errors_of_steroid_metabolism wasDerivedFrom Inborn_errors_of_steroid_metabolism?oldid=621071275.
• Inborn_errors_of_steroid_metabolism depiction Steroidogenesis.svg.
• Inborn_errors_of_steroid_metabolism isPrimaryTopicOf Inborn_errors_of_steroid_metabolism.