| http://dbpedia.org/ontology/abstract
|
Multiple congenital anomalies-hypotonia-seizures syndrome is a rare multi-systemic genetic disorder which is characterized by developmental delay, seizures, hypotonia and heart, urinary, and gastrointestinal abnormalities.
|
| http://dbpedia.org/ontology/wikiPageID
|
70824937
|
| http://dbpedia.org/ontology/wikiPageLength
|
5869
|
| http://dbpedia.org/ontology/wikiPageRevisionID
|
1115315095
|
| http://dbpedia.org/ontology/wikiPageWikiLink
|
http://dbpedia.org/resource/Early_death +
, http://dbpedia.org/resource/Hypotonia +
, http://dbpedia.org/resource/Urinary_system +
, http://dbpedia.org/resource/Chromosome_18 +
, http://dbpedia.org/resource/Patent_ductus_arteriosus +
, http://dbpedia.org/resource/Patent_foramen_ovale +
, http://dbpedia.org/resource/Atrial_septal_defect +
, http://dbpedia.org/resource/Developmental_delays +
, http://dbpedia.org/resource/Category:Genetic_diseases_and_disorders +
, http://dbpedia.org/resource/Epicanthal_folds +
, http://dbpedia.org/resource/Seizure +
, http://dbpedia.org/resource/Philtrum +
, http://dbpedia.org/resource/Retrognathia +
, http://dbpedia.org/resource/Category:Medical_genetics +
, http://dbpedia.org/resource/Hypertelorism +
, http://dbpedia.org/resource/Specific_developmental_disorder +
, http://dbpedia.org/resource/PIGN +
, http://dbpedia.org/resource/Gastroesophageal_reflux +
, http://dbpedia.org/resource/Genetic_mutation +
, http://dbpedia.org/resource/Hydronephrosis +
, http://dbpedia.org/resource/Genetic_disorder +
, http://dbpedia.org/resource/Micrognathia +
, http://dbpedia.org/resource/Medical_genetics +
, http://dbpedia.org/resource/Strabismus +
|
| http://dbpedia.org/property/causes
|
http://dbpedia.org/resource/Genetic_mutation +
|
| http://dbpedia.org/property/complications
|
http://dbpedia.org/resource/Early_death +
|
| http://dbpedia.org/property/duration
|
Life-long
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| http://dbpedia.org/property/frequency
|
very rare, only 15 cases have been reported in medical literature.
|
| http://dbpedia.org/property/name
|
Multiple congenital anomalies-hypotonia-seizures syndrome
|
| http://dbpedia.org/property/onset
|
Birth
|
| http://dbpedia.org/property/prevention
|
none
|
| http://dbpedia.org/property/prognosis
|
Bad
|
| http://dbpedia.org/property/specialty
|
http://dbpedia.org/resource/Medical_genetics +
|
| http://dbpedia.org/property/symptoms
|
Hypotonia, congenital anomalies and seizures
|
| http://dbpedia.org/property/types
|
1234
|
| http://dbpedia.org/property/wikiPageUsesTemplate
|
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:Genetic_diseases_and_disorders +
, http://dbpedia.org/resource/Category:Medical_genetics +
|
| http://www.w3.org/ns/prov#wasDerivedFrom
|
http://en.wikipedia.org/wiki/Multiple_congenital_anomalies-hypotonia-seizures_syndrome?oldid=1115315095&ns=0 +
|
| http://xmlns.com/foaf/0.1/isPrimaryTopicOf
|
http://en.wikipedia.org/wiki/Multiple_congenital_anomalies-hypotonia-seizures_syndrome +
|
| owl:sameAs |
http://dbpedia.org/resource/Multiple_congenital_anomalies-hypotonia-seizures_syndrome +
, https://global.dbpedia.org/id/2VQrD +
, http://www.wikidata.org/entity/Q26492831 +
|
| rdf:type |
http://dbpedia.org/ontology/Disease +
, http://www.wikidata.org/entity/Q12136 +
|
| rdfs:comment |
Multiple congenital anomalies-hypotonia-seizures syndrome is a rare multi-systemic genetic disorder which is characterized by developmental delay, seizures, hypotonia and heart, urinary, and gastrointestinal abnormalities.
|
| rdfs:label |
Multiple congenital anomalies-hypotonia-seizures syndrome
|
