dbo:abstract |
Al Gazali Sabrinathan Nair syndrome, also known as Al Gazali-Nair syndrome is a very rare multi-systemic genetic disorder which is characterized by developmental delay, facial dysmorphy, and skeletal and ocular abnormalities. This disorder was first described in two siblings that came from consanguineous parents. No new cases have been described since 1994. (en) |
dbo:alias |
(en) Al Gazali-Nair syndrome, Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome (en) |
dbo:thumbnail |
wiki-commons:Special:FilePath/X_ray_for_osteogenesis_imperfecta.jpg?width=300 |
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dbo:wikiPageLength |
3333 (xsd:nonNegativeInteger) |
dbo:wikiPageRevisionID |
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dbo:wikiPageWikiLink |
dbr:Epilepsy dbr:Developmental_delay dbr:Dysmorphic_feature dbr:Genetic_disorder dbr:Genetic_mutation dbr:Consanguinity dbr:Medical_genetics dbc:Genetic_diseases_and_disorders dbr:Osteogenesis_imperfecta dbr:Retinal_detachment dbr:Hypertelorism dbr:Eyelash dbr:Wormian_bones dbr:Frontal_bossing dbr:Sclerae dbr:Optic_atrophy |
dbp:causes |
dbr:Genetic_mutation |
dbp:duration |
life-long (en) |
dbp:frequency |
very rare, only 2 cases reported in medical literature (en) |
dbp:name |
Al Gazali Sabrinathan Nair syndrome (en) |
dbp:onset |
birth (en) |
dbp:prevention |
none (en) |
dbp:specialty |
dbr:Medical_genetics |
dbp:symptoms |
ocular, skeletal and developmental abnormalities with facial dysmorphisms (en) |
dbp:synonyms |
Al Gazali-Nair syndrome, Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome (en) |
dbp:wikiPageUsesTemplate |
dbt:Reflist dbt:Infobox_medical_condition |
dcterms:subject |
dbc:Genetic_diseases_and_disorders |
rdf:type |
owl:Thing wikidata:Q12136 dbo:Disease |
rdfs:comment |
Al Gazali Sabrinathan Nair syndrome, also known as Al Gazali-Nair syndrome is a very rare multi-systemic genetic disorder which is characterized by developmental delay, facial dysmorphy, and skeletal and ocular abnormalities. This disorder was first described in two siblings that came from consanguineous parents. No new cases have been described since 1994. (en) |
rdfs:label |
Al Gazali Sabrinathan Nair syndrome (en) |
owl:sameAs |
wikidata:Al Gazali Sabrinathan Nair syndrome https://global.dbpedia.org/id/DVXi1 |
prov:wasDerivedFrom |
wikipedia-en:Al_Gazali_Sabrinathan_Nair_syndrome?oldid=1089940938&ns=0 |
foaf:depiction |
wiki-commons:Special:FilePath/X_ray_for_osteogenesis_imperfecta.jpg |
foaf:isPrimaryTopicOf |
wikipedia-en:Al_Gazali_Sabrinathan_Nair_syndrome |
is dbo:wikiPageWikiLink of |
dbr:List_of_diseases_(A) |
is foaf:primaryTopic of |
wikipedia-en:Al_Gazali_Sabrinathan_Nair_syndrome |