| http://dbpedia.org/ontology/abstract
|
Waardenburg Syndrome Type 4A is an extreme … Waardenburg Syndrome Type 4A is an extremely rare congenital disorder caused by a mutation in an endothelin receptor gene. It results in common Waardenburg syndrome symptoms such as abnormal hair and skin pigmentation and heterochromia, but also present with symptoms of Hirschsprung’s disease. Symptoms include abdominal pain and bowel obstruction. Waardenburg Syndrome Type 4A is the rarest among the types, appearing only once in about every 1,000,000 individuals. There have only been a total of 50 cases reported in total as of 2016. of 50 cases reported in total as of 2016.
|
| http://dbpedia.org/ontology/thumbnail
|
http://commons.wikimedia.org/wiki/Special:FilePath/Waardenburg_syndrome_type_1_%283%29.png?width=300 +
|
| http://dbpedia.org/ontology/wikiPageID
|
63827204
|
| http://dbpedia.org/ontology/wikiPageLength
|
8924
|
| http://dbpedia.org/ontology/wikiPageRevisionID
|
1062212412
|
| http://dbpedia.org/ontology/wikiPageWikiLink
|
http://dbpedia.org/resource/Hirschsprung%27s_disease +
, http://dbpedia.org/resource/Aganglionosis +
, http://dbpedia.org/resource/Enteric_nervous_system +
, http://dbpedia.org/resource/Hearing_loss +
, http://dbpedia.org/resource/Neural_tube +
, http://dbpedia.org/resource/Category:Rare_genetic_syndromes +
, http://dbpedia.org/resource/Heterozygous +
, http://dbpedia.org/resource/File:Waardenburg_syndrome_type_1_%283%29.png +
, http://dbpedia.org/resource/Penetrance +
, http://dbpedia.org/resource/Endothelin_B_receptor +
, http://dbpedia.org/resource/Dystopia_canthorum +
, http://dbpedia.org/resource/Phenotype +
, http://dbpedia.org/resource/File:Development_of_the_neural_tube.png +
, http://dbpedia.org/resource/Waardenburg_syndrome +
, http://dbpedia.org/resource/Dominance_%28genetics%29 +
, http://dbpedia.org/resource/Heterochromia_iridum +
, http://dbpedia.org/resource/EDNRB +
|
| http://dbpedia.org/property/synonym
|
Shah-Waardenburg Syndrome
|
| http://dbpedia.org/property/wikiPageUsesTemplate
|
http://dbpedia.org/resource/Template:Citation_needed +
, http://dbpedia.org/resource/Template:Infobox_medical_condition +
, http://dbpedia.org/resource/Template:Reflist +
|
| http://purl.org/dc/terms/subject
|
http://dbpedia.org/resource/Category:Rare_genetic_syndromes +
|
| http://www.w3.org/ns/prov#wasDerivedFrom
|
http://en.wikipedia.org/wiki/Waardenburg_Syndrome_Type_4A?oldid=1062212412&ns=0 +
|
| http://xmlns.com/foaf/0.1/depiction
|
http://commons.wikimedia.org/wiki/Special:FilePath/Development_of_the_neural_tube.png +
, http://commons.wikimedia.org/wiki/Special:FilePath/Waardenburg_syndrome_type_1_%283%29.png +
|
| http://xmlns.com/foaf/0.1/isPrimaryTopicOf
|
http://en.wikipedia.org/wiki/Waardenburg_Syndrome_Type_4A +
|
| owl:sameAs |
https://global.dbpedia.org/id/2yKAe +
, http://www.wikidata.org/entity/Q32145171 +
, http://dbpedia.org/resource/Waardenburg_Syndrome_Type_4A +
|
| rdf:type |
http://www.wikidata.org/entity/Q12136 +
, http://dbpedia.org/ontology/Disease +
|
| rdfs:comment |
Waardenburg Syndrome Type 4A is an extreme … Waardenburg Syndrome Type 4A is an extremely rare congenital disorder caused by a mutation in an endothelin receptor gene. It results in common Waardenburg syndrome symptoms such as abnormal hair and skin pigmentation and heterochromia, but also present with symptoms of Hirschsprung’s disease. Symptoms include abdominal pain and bowel obstruction. Waardenburg Syndrome Type 4A is the rarest among the types, appearing only once in about every 1,000,000 individuals. There have only been a total of 50 cases reported in total as of 2016. of 50 cases reported in total as of 2016.
|
| rdfs:label |
Waardenburg Syndrome Type 4A
|
