| dbo:abstract |
Boucher-Neuhäuser syndrome is a very rare genetic disorder which is characterized by a triad consisting of cerebellar ataxia, , and hypogonadism. (en) |
| dbo:alias |
(en) Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism, Ataxia-hypogonadism-choroidal dystrophy syndrome. (en) |
| dbo:thumbnail |
wiki-commons:Special:FilePath/Autorecessive.svg?width=300 |
| dbo:wikiPageID |
70967442 (xsd:integer) |
| dbo:wikiPageLength |
8642 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID |
1094306751 (xsd:integer) |
| dbo:wikiPageWikiLink |
dbr:Genetic_disorder dbr:Chromosome_19 dbr:Genetic_mutation dbc:Autosomal_recessive_disorders dbr:Medical_genetics dbc:Genetic_diseases_and_disorders dbr:PNPLA6 dbr:Hypogonadism dbr:Cerebellar_ataxia dbr:Chorioretinal_dystrophy |
| dbp:causes |
dbr:Genetic_mutation |
| dbp:deaths |
- (en) |
| dbp:duration |
Lifelong (en) |
| dbp:frequency |
very rare, only 22 cases have been described in medical literature (en) |
| dbp:imageSize |
200 (xsd:integer) |
| dbp:name |
Boucher-Neuhäuser syndrome (en) |
| dbp:onset |
Late childhood-adolescence-early adulthood (en) |
| dbp:prevention |
None (en) |
| dbp:prognosis |
Medium (en) |
| dbp:specialty |
dbr:Medical_genetics |
| dbp:symptoms |
Cerebellar ataxia, hypogonadism, and choroidal dystrophy (en) |
| dbp:synonyms |
Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism, Ataxia-hypogonadism-choroidal dystrophy syndrome. (en) |
| dbp:wikiPageUsesTemplate |
dbt:Orphan dbt:Reflist dbt:Infobox_medical_condition |
| dcterms:subject |
dbc:Autosomal_recessive_disorders dbc:Genetic_diseases_and_disorders |
| rdf:type |
owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment |
Boucher-Neuhäuser syndrome is a very rare genetic disorder which is characterized by a triad consisting of cerebellar ataxia, , and hypogonadism. (en) |
| rdfs:label |
Boucher-Neuhäuser syndrome (en) |
| owl:sameAs |
wikidata:Boucher-Neuhäuser syndrome https://global.dbpedia.org/id/CvRn8 |
| prov:wasDerivedFrom |
wikipedia-en:Boucher-Neuhäuser_syndrome?oldid=1094306751&ns=0 |
| foaf:depiction |
wiki-commons:Special:FilePath/Autorecessive.svg |
| foaf:isPrimaryTopicOf |
wikipedia-en:Boucher-Neuhäuser_syndrome |
| is foaf:primaryTopic of |
wikipedia-en:Boucher-Neuhäuser_syndrome |
