| dbo:abstract |
Retinal cone dystrophy 3B is a very rare genetic disorder which is characterized by ocular anomalies. Approximately 34 cases from 20 families across the world have been described in medical literature (OMIM). This disorder is associated with autosomal recessive mutations in the KCNV2 and genes. (en) |
| dbo:thumbnail |
wiki-commons:Special:FilePath/Autorecessive.svg?width=300 |
| dbo:wikiPageID |
70919859 (xsd:integer) |
| dbo:wikiPageLength |
4573 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID |
1103980201 (xsd:integer) |
| dbo:wikiPageWikiLink |
dbr:United_Arab_Emirates dbr:United_Kingdom dbr:Visual_acuity dbr:Nystagmus dbr:Genetic_disorder dbr:Genetic_mutation dbc:Autosomal_recessive_disorders dbr:Medical_genetics dbc:Genetic_diseases_and_disorders dbr:Pakistan dbr:KCNV2 dbr:Astigmatism dbr:Iran dbr:Dyschromatopsia dbr:Somalia dbr:Photophobia dbr:Scotoma dbr:Nearsightedness dbr:Colorblindness dbr:PDE6H |
| dbp:causes |
dbr:Genetic_mutation |
| dbp:complications |
Vision impairment, colorblindness (en) |
| dbp:deaths |
- (en) |
| dbp:duration |
Life-long (en) |
| dbp:frequency |
very rare, only 34 cases have been described worldwide. (en) |
| dbp:name |
Retinal cone dystrophy 3B (en) |
| dbp:onset |
Mid/late childhood-early adulthood (en) |
| dbp:prevention |
none (en) |
| dbp:specialty |
dbr:Medical_genetics |
| dbp:symptoms |
Ocular abnormalities (en) |
| dbp:wikiPageUsesTemplate |
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 |
Retinal cone dystrophy 3B is a very rare genetic disorder which is characterized by ocular anomalies. Approximately 34 cases from 20 families across the world have been described in medical literature (OMIM). This disorder is associated with autosomal recessive mutations in the KCNV2 and genes. (en) |
| rdfs:label |
Retinal cone dystrophy 3B (en) |
| owl:sameAs |
wikidata:Retinal cone dystrophy 3B https://global.dbpedia.org/id/GbrLw |
| prov:wasDerivedFrom |
wikipedia-en:Retinal_cone_dystrophy_3B?oldid=1103980201&ns=0 |
| foaf:depiction |
wiki-commons:Special:FilePath/Autorecessive.svg |
| foaf:isPrimaryTopicOf |
wikipedia-en:Retinal_cone_dystrophy_3B |
| is dbo:wikiPageWikiLink of |
dbr:List_of_OMIM_disorder_codes |
| is foaf:primaryTopic of |
wikipedia-en:Retinal_cone_dystrophy_3B |
