SERKAL syndrome (original) (raw)
SERKAL syndrome (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) is an autosomal recessive disorder in XX humans. It is caused by loss of function in WNT4, a protein involved in sex development. The main outcome is female to male sex reversal. Other names include sex reversion-kidneys and adrenal and lung dysgenesis syndrome. The condition's prevalence is lower than 1 in 1,000,000.
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| dbo:abstract | SERKAL syndrome (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) is an autosomal recessive disorder in XX humans. It is caused by loss of function in WNT4, a protein involved in sex development. The main outcome is female to male sex reversal. Other names include sex reversion-kidneys and adrenal and lung dysgenesis syndrome. The condition's prevalence is lower than 1 in 1,000,000. (en) Синдром SERKAL — аутосомно-рецессивное заболевание. Встречается у людей с кариотипом XX. Вызвано потерей функции в белке WNT4, участвующем в формировании пола. Основным результатом является реверсия пола с женского на мужской. Встречается реже чем 1 случай на 1 000 000. Название сформировано из первых букв (на английском языке) расстройств входящих в синдром: SEx Reversion, Kidneys, Adrenal and Lung dysgenesis. (ru) |
| dbo:wikiPageExternalLink | https://monarchinitiative.org/disease/OMIM:611812 |
| dbo:wikiPageID | 38078517 (xsd:integer) |
| dbo:wikiPageLength | 2930 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID | 1084669117 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:Dysgenesis_(embryology) dbr:WNT4 dbc:Intersex_variations dbc:Genetic_diseases_and_disorders dbr:Estriol dbc:Rare_syndromes dbr:Hypoplasia dbr:Recessive dbr:The_Monarch_Initiative |
| dbp:synonym | SEx Reversion, Kidneys, Adrenal and Lung dysgenesis (en) |
| dbp:wikiPageUsesTemplate | dbt:Empty_section dbt:Infobox_medical_condition dbt:Disease-stub |
| dcterms:subject | dbc:Intersex_variations dbc:Genetic_diseases_and_disorders dbc:Rare_syndromes |
| rdf:type | owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment | SERKAL syndrome (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) is an autosomal recessive disorder in XX humans. It is caused by loss of function in WNT4, a protein involved in sex development. The main outcome is female to male sex reversal. Other names include sex reversion-kidneys and adrenal and lung dysgenesis syndrome. The condition's prevalence is lower than 1 in 1,000,000. (en) Синдром SERKAL — аутосомно-рецессивное заболевание. Встречается у людей с кариотипом XX. Вызвано потерей функции в белке WNT4, участвующем в формировании пола. Основным результатом является реверсия пола с женского на мужской. Встречается реже чем 1 случай на 1 000 000. Название сформировано из первых букв (на английском языке) расстройств входящих в синдром: SEx Reversion, Kidneys, Adrenal and Lung dysgenesis. (ru) |
| rdfs:label | SERKAL syndrome (en) Синдром SERKAL (ru) |
| owl:sameAs | wikidata:SERKAL syndrome dbpedia-ru:SERKAL syndrome https://global.dbpedia.org/id/4usVJ |
| prov:wasDerivedFrom | wikipedia-en:SERKAL_syndrome?oldid=1084669117&ns=0 |
| foaf:isPrimaryTopicOf | wikipedia-en:SERKAL_syndrome |
| is dbo:wikiPageRedirects of | dbr:Serkal_syndrome dbr:Serkal_Syndrome |
| is dbo:wikiPageWikiLink of | dbr:List_of_OMIM_disorder_codes dbr:Serkal_syndrome dbr:Serkal_Syndrome |
| is foaf:primaryTopic of | wikipedia-en:SERKAL_syndrome |